#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KLHL17	339451	broad.mit.edu	37	1	897302	897302	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:897302G>T	ENST00000338591.3	+	4	693	c.586G>T	c.(586-588)Ggt>Tgt	p.G196C	NOC2L_ENST00000487214.1_5'Flank|NOC2L_ENST00000327044.6_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	196	BACK.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)	p.G196C(2)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACTGCCTGGGTATCCGGGG	0.627																																							uc001aca.1		NA																	2	Substitution - Missense(2)		lung(1)|kidney(1)		0						c.(586-588)GGT>TGT		kelch-like 17							68.0	68.0	68.0					1																	897302		2203	4300	6503	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:897302G>T	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.586G>T	1.37:g.897302G>T	ENSP00000343930:p.Gly196Cys					NOC2L_uc001abz.3_5'Flank|NOC2L_uc009vjq.2_5'Flank|NOC2L_uc009vjr.1_5'Flank|KLHL17_uc001acb.1_Missense_Mutation_p.G72C|KLHL17_uc010nya.1_Missense_Mutation_p.G72C|KLHL17_uc001acc.1_5'Flank|KLHL17_uc010nyb.1_5'Flank	p.G196C	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	693	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	196			BACK.		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.586G>T	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526455	0.85600	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	T	0.71698	-0.59	5.16	5.16	0.70880	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93219	0.6607	10	0.87932	D	0	.	19.0301	0.92953	0.0:0.0:1.0:0.0	.	72;72;196	B3KXL7;Q86XA8;Q6TDP4	.;.;KLH17_HUMAN	C	196;72	ENSP00000343930:G196C	ENSP00000343930:G196C	G	+	1	0	KLHL17	887165	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.779000	0.99018	2.577000	0.86979	0.561000	0.74099	GGT		0.627	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		5	45	1	0	0.000602214	0.000602	0.000682885	5	45				
AGRN	375790	broad.mit.edu	37	1	979000	979000	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:979000G>A	ENST00000379370.2	+	9	1736	c.1686G>A	c.(1684-1686)ttG>ttA	p.L562L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	562	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.L562L(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCGTGGCTTTGGCCCAGCCCG	0.682																																							uc001ack.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(1684-1686)TTG>TTA		agrin precursor							65.0	68.0	67.0					1																	979000		2203	4297	6500	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:979000G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1686G>A	1.37:g.979000G>A							p.L562L	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	9	1736	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	562			Kazal-like 6.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.1686G>A	CCDS30551.1																																																																																				0.682	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		8	36	0	0	0	0.00308	0	8	36				
TAS1R3	83756	broad.mit.edu	37	1	1268367	1268367	+	Nonsense_Mutation	SNP	G	G	T	rs143311630		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:1268367G>T	ENST00000339381.5	+	4	1374	c.1342G>T	c.(1342-1344)Gga>Tga	p.G448*		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	448					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.G448*(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CGACAGCAGCGGAAACGTGGA	0.662																																							uc010nyk.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1342-1344)GGA>TGA		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						49.0	49.0	49.0					1																	1268367		2200	4295	6495	SO:0001587	stop_gained	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268367G>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1342G>T	1.37:g.1268367G>T	ENSP00000344411:p.Gly448*						p.G448*	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	4	1342	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	448			Extracellular (Potential).		Q5TA49|Q8NGW9	Nonsense_Mutation	SNP	ENST00000339381.5	37	c.1342G>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443269	0.83993	.	.	ENSG00000169962	ENST00000339381	.	.	.	4.86	4.86	0.63082	.	0.268407	0.35708	N	0.003021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	13.8532	0.63510	0.0:0.2029:0.7971:0.0	.	.	.	.	X	448	.	ENSP00000344411:G448X	G	+	1	0	TAS1R3	1258230	0.969000	0.33509	0.143000	0.22291	0.163000	0.22366	2.578000	0.46051	2.261000	0.74972	0.456000	0.33151	GGA		0.662	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			5	21	1	0	0.000602214	0.000602	0.000682885	5	21				
ACTRT2	140625	broad.mit.edu	37	1	2939307	2939307	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:2939307A>T	ENST00000378404.2	+	1	1262	c.1057A>T	c.(1057-1059)Agc>Tgc	p.S353C		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	353						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S353C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCTCTGAGTAGCTTCAAGCA	0.602																																							uc001ajz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)AGC>TGC		actin-related protein M2							117.0	130.0	125.0					1																	2939307		2203	4300	6503	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2939307A>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.1057A>T	1.37:g.2939307A>T	ENSP00000367658:p.Ser353Cys						p.S353C	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1262	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	353					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.1057A>T	CCDS45.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.28|19.28	3.796610|3.796610	0.70567|0.70567	.|.	.|.	ENSG00000169717|ENSG00000169717	ENST00000378404|ENST00000543312	D|.	0.94828|.	-3.53|.	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	0.220511|.	0.31963|.	N|.	0.006794|.	T|.	0.79690|.	0.4489|.	M|M	0.92268|0.92268	3.29|3.29	0.50632|0.50632	D|D	0.999887|0.999887	D|.	0.89917|.	1.0|.	D|.	0.74348|.	0.983|.	T|.	0.83064|.	-0.0146|.	10|.	0.87932|.	D|.	0|.	.|.	9.1038|9.1038	0.36685|0.36685	0.8362:0.0:0.0:0.1638|0.8362:0.0:0.0:0.1638	.|.	353|.	Q8TDY3|.	ACTT2_HUMAN|.	C|L	353|329	ENSP00000367658:S353C|.	ENSP00000367658:S353C|.	S|X	+|+	1|2	0|0	ACTRT2|ACTRT2	2929167|2929167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.499000|3.499000	0.53310|0.53310	1.735000|1.735000	0.51646|0.51646	0.459000|0.459000	0.35465|0.35465	AGC|TAG		0.602	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		26	91	0	0	0	0.005443	0	26	91				
AJAP1	55966	broad.mit.edu	37	1	4772150	4772150	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:4772150G>T	ENST00000378191.4	+	2	601	c.220G>T	c.(220-222)Gtc>Ttc	p.V74F	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.V74F	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	74					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V74F(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCCAGCGCGGGTCCCGGCCCC	0.761																																							uc001alm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(220-222)GTC>TTC		adherens junction associated protein 1							8.0	12.0	11.0					1																	4772150		1658	3568	5226	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772150G>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.220G>T	1.37:g.4772150G>T	ENSP00000367433:p.Val74Phe					AJAP1_uc001aln.2_Missense_Mutation_p.V74F	p.V74F	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	601	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	74			Extracellular (Potential).		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.220G>T	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	8.802	0.933167	0.18131	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45276	0.9;0.9	5.08	-10.2	0.00374	.	1.288740	0.05681	N	0.590485	T	0.21227	0.0511	N	0.14661	0.345	0.09310	N	1	B	0.18968	0.032	B	0.21360	0.034	T	0.30090	-0.9990	10	0.44086	T	0.13	-0.4	8.8739	0.35334	0.6167:0.2183:0.1649:0.0	.	74	Q9UKB5	AJAP1_HUMAN	F	74	ENSP00000367432:V74F;ENSP00000367433:V74F	ENSP00000367432:V74F	V	+	1	0	AJAP1	4672010	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.930000	0.03972	-1.803000	0.01242	-0.251000	0.11542	GTC		0.761	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		4	36	1	0	0.000602214	0.000602	0.000682885	4	36				
CAMTA1	23261	broad.mit.edu	37	1	7737720	7737720	+	Silent	SNP	G	G	T	rs372537435		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:7737720G>T	ENST00000303635.7	+	11	3048	c.2841G>T	c.(2839-2841)tcG>tcT	p.S947S	CAMTA1_ENST00000439411.2_Silent_p.S947S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	947	IPT/TIG.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S947S(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCTCCAACTCGGTGGTGTTTG	0.552			T	WWTR1	epitheliod hemangioendothelioma																																		uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					2	Substitution - coding silent(2)		lung(1)|pancreas(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2839-2841)TCG>TCT		calmodulin-binding transcription activator 1							171.0	150.0	157.0					1																	7737720		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7737720G>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2841G>T	1.37:g.7737720G>T						CAMTA1_uc010nzv.1_Silent_p.S34S|CAMTA1_uc001aok.3_5'Flank	p.S947S	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	11	3048	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	947			IPT/TIG.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2841G>T	CCDS30576.1																																																																																				0.552	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		15	72	1	0	6.31663e-08	0.003163	9.21544e-08	15	72				
SLC45A1	50651	broad.mit.edu	37	1	8397904	8397904	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:8397904C>T	ENST00000471889.1	+	7	2011	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	SLC45A1_ENST00000377479.2_Silent_p.L576L|SLC45A1_ENST00000289877.8_Silent_p.L542L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	542					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.L542L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGCTCTTCTACACAG	0.557																																							uc001apb.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1624-1626)CTC>CTT		DNB5							148.0	137.0	141.0					1																	8397904		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8397904C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1626C>T	1.37:g.8397904C>T						SLC45A1_uc001apc.2_Silent_p.L240L	p.L542L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	6	1626	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	542			Helical; (Potential).		Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1626C>T	CCDS30577.1																																																																																				0.557	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			13	90	0	0	0	0.003163	0	13	90				
UBE4B	10277	broad.mit.edu	37	1	10207066	10207066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:10207066G>T	ENST00000253251.8	+	18	2961	c.2122G>T	c.(2122-2124)Gag>Tag	p.E708*	UBE4B_ENST00000377157.3_Nonsense_Mutation_p.E592*|UBE4B_ENST00000343090.6_Nonsense_Mutation_p.E837*					ubiquitination factor E4B									p.E708*(1)|p.E837*(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCTACTTGACGAGAGCTTCCT	0.527																																							uc001aqs.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2509-2511)GAG>TAG		ubiquitination factor E4B isoform 1							171.0	145.0	154.0					1																	10207066		2203	4300	6503	SO:0001587	stop_gained	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10207066G>T	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2122G>T	1.37:g.10207066G>T	ENSP00000253251:p.Glu708*					UBE4B_uc001aqr.3_Nonsense_Mutation_p.E708*|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Nonsense_Mutation_p.E292*|UBE4B_uc001aqt.1_Nonsense_Mutation_p.E177*	p.E837*	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	19	3222	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	837						Nonsense_Mutation	SNP	ENST00000253251.8	37	c.2509G>T	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	49	15.094886	0.99822	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	.	.	.	5.68	5.68	0.88126	.	0.107599	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-25.7774	19.8593	0.96777	0.0:0.0:1.0:0.0	.	.	.	.	X	708;592;837	.	ENSP00000253251:E708X	E	+	1	0	UBE4B	10129653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	2.700000	0.92200	0.558000	0.71614	GAG		0.527	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		22	60	1	0	9.95505e-16	0.002299	1.75905e-15	22	60				
MTOR	2475	broad.mit.edu	37	1	11264722	11264722	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:11264722C>A	ENST00000361445.4	-	26	3916	c.3840G>T	c.(3838-3840)tgG>tgT	p.W1280C		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1280					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.W1280C(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCCATTCCAGCCAGTCATCTT	0.582																																							uc001asd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(3838-3840)TGG>TGT		FK506 binding protein 12-rapamycin associated							43.0	41.0	42.0					1																	11264722		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11264722C>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3840G>T	1.37:g.11264722C>A	ENSP00000354558:p.Trp1280Cys						p.W1280C	NM_004958	NP_004949	P42345	MTOR_HUMAN			26	3961	-			1280					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.3840G>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603667	0.87157	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68765	-0.35	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	M	0.88181	2.935	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	D	0.87105	0.2181	10	0.87932	D	0	-16.6809	20.3409	0.98764	0.0:1.0:0.0:0.0	.	1280	P42345	MTOR_HUMAN	C	1280	ENSP00000354558:W1280C	ENSP00000354558:W1280C	W	-	3	0	MTOR	11187309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.409000	0.80053	2.814000	0.96858	0.655000	0.94253	TGG		0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		6	16	1	0	0.00307968	0.00308	0.0033563	6	16				
PTCHD2	57540	broad.mit.edu	37	1	11579514	11579514	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:11579514C>A	ENST00000294484.6	+	8	2130	c.1992C>A	c.(1990-1992)ccC>ccA	p.P664P	PTCHD2_ENST00000389575.3_Silent_p.P664P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	664					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.P881P(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCCCATACCCTACCTGGATG	0.647																																							uc001ash.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(1990-1992)CCC>CCA		patched domain containing 2							133.0	147.0	142.0					1																	11579514		2029	4195	6224	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11579514C>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1992C>A	1.37:g.11579514C>A						PTCHD2_uc001asi.1_Silent_p.P664P	p.P664P	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	8	2130	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	664			Cytoplasmic (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.1992C>A	CCDS41247.1																																																																																				0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		23	117	1	0	7.01153e-11	0.007291	1.13305e-10	23	117				
TNFRSF8	943	broad.mit.edu	37	1	12164553	12164553	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:12164553C>T	ENST00000263932.2	+	4	608	c.386C>T	c.(385-387)tCt>tTt	p.S129F	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S18F	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	129					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.S129F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TTCTTCCATTCTGTCTGTCCG	0.577																																							uc001atq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(385-387)TCT>TTT		tumor necrosis factor receptor superfamily,							137.0	104.0	115.0					1																	12164553		2203	4300	6503	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12164553C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.386C>T	1.37:g.12164553C>T	ENSP00000263932:p.Ser129Phe					TNFRSF8_uc010obc.1_Missense_Mutation_p.S18F	p.S129F	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	608	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	129			TNFR-Cys 3.|Extracellular (Potential).		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.386C>T	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	18.15	3.559724	0.65538	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.06849	3.25;3.25	4.52	4.52	0.55395	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.884077	0.09673	N	0.770867	T	0.24392	0.0591	M	0.62723	1.935	0.20563	N	0.999886	D;D	0.64830	0.994;0.994	P;P	0.61397	0.888;0.888	T	0.08046	-1.0741	10	0.45353	T	0.12	-18.2412	13.5402	0.61671	0.0:1.0:0.0:0.0	.	18;129	D3YTD8;P28908	.;TNR8_HUMAN	F	129;18	ENSP00000263932:S129F;ENSP00000390650:S18F	ENSP00000263932:S129F	S	+	2	0	TNFRSF8	12087140	0.201000	0.23410	0.106000	0.21319	0.036000	0.12997	3.585000	0.53943	2.468000	0.83385	0.650000	0.86243	TCT		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			3	22	0	0	0	0.009096	0	3	22				
Unknown	0	broad.mit.edu	37	1	13183308	13183308	+	IGR	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:13183308G>C								RP13-221M14.3 (18840 upstream) : PRAMEF26 (33047 downstream)																							TGTTTTATCTGGGTCAACTCC	0.433																																							uc010obg.1		NA																	0					0						c.(565-567)CAG>GAG		heterogeneous nuclear ribonucleoprotein C-like							61.0	44.0	49.0					1																	13183308		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183308G>C																													1.37:g.13183308G>C							p.Q189E	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	660	-			189						Missense_Mutation	SNP		37	c.565C>G																																																																																				0	0.433									29	367	0	0	0	0.003755	0	29	367				
CTRC	11330	broad.mit.edu	37	1	15770036	15770036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:15770036G>A	ENST00000375949.4	+	5	505	c.479G>A	c.(478-480)tGg>tAg	p.W160*	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	160	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.W160*(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACCGGCTGGGGCCGCCTC	0.587																																							uc001awi.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(478-480)TGG>TAG		chymotrypsin C preproprotein							92.0	90.0	91.0					1																	15770036		2203	4300	6503	SO:0001587	stop_gained	11330				proteolysis		serine-type endopeptidase activity	g.chr1:15770036G>A	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.479G>A	1.37:g.15770036G>A	ENSP00000365116:p.Trp160*					CTRC_uc001awj.1_Nonsense_Mutation_p.W160*	p.W160*	NM_007272	NP_009203	Q99895	CTRC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	502	+		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)	160			Peptidase S1.		A8K082|O00765|Q9NUH5	Nonsense_Mutation	SNP	ENST00000375949.4	37	c.479G>A	CCDS156.1	.	.	.	.	.	.	.	.	.	.	.	19.68	3.872173	0.72180	.	.	ENSG00000162438	ENST00000375949	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5808	16.8963	0.86101	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000365116:W160X	W	+	2	0	CTRC	15642623	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.540000	0.98080	2.576000	0.86940	0.549000	0.68633	TGG		0.587	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		26	99	0	0	0	0.003954	0	26	99				
IGSF21	84966	broad.mit.edu	37	1	18661461	18661461	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:18661461G>C	ENST00000251296.1	+	4	764	c.381G>C	c.(379-381)gaG>gaC	p.E127D		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	127	Ig-like 1.					extracellular region (GO:0005576)		p.E127D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCACCAGGGAGAAGGTGGTCC	0.607																																							uc001bau.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(379-381)GAG>GAC		immunoglobin superfamily, member 21 precursor							102.0	73.0	83.0					1																	18661461		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18661461G>C	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.381G>C	1.37:g.18661461G>C	ENSP00000251296:p.Glu127Asp						p.E127D	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	4	764	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	127			Ig-like 1.		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.381G>C	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.1|25.1	4.601100|4.601100	0.87055|0.87055	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000251296|ENST00000412684	T|T	0.26223|0.27256	1.75|1.68	5.57|5.57	5.57|5.57	0.84162|0.84162	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.33235|0.33235	0.0856|0.0856	L|L	0.51914|0.51914	1.62|1.62	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.63046|.	0.992|.	D|.	0.77004|.	0.989|.	T|T	0.01879|0.01879	-1.1255|-1.1255	10|8	0.51188|0.27082	T|T	0.08|0.32	-20.8985|-20.8985	11.5798|11.5798	0.50885|0.50885	0.0819:0.0:0.9181:0.0|0.0819:0.0:0.9181:0.0	.|.	127|.	Q96ID5|.	IGS21_HUMAN|.	D|Q	127|80	ENSP00000251296:E127D|ENSP00000388681:E80Q	ENSP00000251296:E127D|ENSP00000388681:E80Q	E|E	+|+	3|1	2|0	IGSF21|IGSF21	18534048|18534048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.243000|5.243000	0.65395|0.65395	2.614000|2.614000	0.88457|0.88457	0.651000|0.651000	0.88453|0.88453	GAG|GAA		0.607	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		4	23	0	0	0	0.009096	0	4	23				
KLHDC7A	127707	broad.mit.edu	37	1	18808309	18808309	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:18808309G>T	ENST00000400664.1	+	1	886	c.834G>T	c.(832-834)gcG>gcT	p.A278A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	278						integral component of membrane (GO:0016021)		p.A278A(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGAAGGCGGAGGGGGTTG	0.592																																							uc001bax.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(832-834)GCG>GCT		kelch domain containing 7A							82.0	84.0	84.0					1																	18808309		2203	4300	6503	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18808309G>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.834G>T	1.37:g.18808309G>T						KLHDC7A_uc009vpg.2_Silent_p.A60A	p.A278A	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	886	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	278					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.834G>T	CCDS185.2																																																																																				0.592	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		12	91	1	0	7.93312e-07	0.00245	1.09071e-06	12	91				
TAS1R2	80834	broad.mit.edu	37	1	19166166	19166166	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:19166166A>G	ENST00000375371.3	-	6	2468	c.2447T>C	c.(2446-2448)cTc>cCc	p.L816P		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	816					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.L816P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGGGTAGAAGAGGATCATGTA	0.607																																							uc001bba.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2446-2448)CTC>CCC		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						101.0	81.0	88.0					1																	19166166		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166166A>G		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2447T>C	1.37:g.19166166A>G	ENSP00000364520:p.Leu816Pro						p.L816P	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2448	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	816			Cytoplasmic (Potential).		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2447T>C	CCDS187.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552111	0.65311	.	.	ENSG00000179002	ENST00000375371	D	0.93247	-3.19	5.05	5.05	0.67936	GPCR, family 3, C-terminal (1);	0.000000	0.43579	D	0.000553	D	0.96294	0.8791	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.96713	0.9527	10	0.87932	D	0	.	12.7906	0.57530	1.0:0.0:0.0:0.0	.	816	Q8TE23	TS1R2_HUMAN	P	816	ENSP00000364520:L816P	ENSP00000364520:L816P	L	-	2	0	TAS1R2	19038753	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	7.444000	0.80532	1.910000	0.55303	0.524000	0.50904	CTC		0.607	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			4	28	0	0	0	0.000602	0	4	28				
UBR4	23352	broad.mit.edu	37	1	19486754	19486754	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:19486754G>C	ENST00000375254.3	-	39	5455	c.5428C>G	c.(5428-5430)Ctc>Gtc	p.L1810V	UBR4_ENST00000375217.2_Missense_Mutation_p.L1810V|UBR4_ENST00000375226.2_Missense_Mutation_p.L1810V|UBR4_ENST00000375267.2_Missense_Mutation_p.L1810V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1810					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1810V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTAACACGAGAGGAGCGAAG	0.413																																							uc001bbi.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(5428-5430)CTC>GTC		retinoblastoma-associated factor 600							47.0	45.0	46.0					1																	19486754		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19486754G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5428C>G	1.37:g.19486754G>C	ENSP00000364403:p.Leu1810Val					UBR4_uc001bbm.1_Missense_Mutation_p.L1021V	p.L1810V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	39	5432	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1810					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.5428C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603188	0.28534	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.91	4.82	0.62117	.	0.074969	0.50627	D	0.000112	T	0.13286	0.0322	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.09862	-1.0655	10	0.15066	T	0.55	.	13.6766	0.62458	0.1147:0.0:0.8853:0.0	.	1810	Q5T4S7	UBR4_HUMAN	V	1810;1810;1810;1810;520;1026	ENSP00000364403:L1810V;ENSP00000364416:L1810V;ENSP00000364365:L1810V;ENSP00000364374:L1810V	ENSP00000364365:L1810V	L	-	1	0	UBR4	19359341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.906000	0.56340	2.804000	0.96469	0.650000	0.86243	CTC		0.413	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		4	21	0	0	0	0.009096	0	4	21				
UBR4	23352	broad.mit.edu	37	1	19513693	19513693	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:19513693G>A	ENST00000375254.3	-	13	1624	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	UBR4_ENST00000375217.2_Silent_p.L533L|UBR4_ENST00000375226.2_Silent_p.L533L|UBR4_ENST00000375267.2_Silent_p.L533L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	533					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L533L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTCAAGAGCAGGTTCATCAGT	0.438																																							uc001bbi.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(1597-1599)CTG>TTG		retinoblastoma-associated factor 600							93.0	79.0	83.0					1																	19513693		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19513693G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1597C>T	1.37:g.19513693G>A							p.L533L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	13	1601	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	533					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.1597C>T	CCDS189.1																																																																																				0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	32	0	0	0	0.00308	0	8	32				
HTR6	3362	broad.mit.edu	37	1	19992446	19992446	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:19992446C>T	ENST00000289753.1	+	1	667	c.200C>T	c.(199-201)tCg>tTg	p.S67L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	67					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)	p.S67L(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TTCCTGGTGTCGCTCTTCACG	0.677																																					Esophageal Squamous(168;1879 2619 6848 21062)	Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)TCG>TTG		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						29.0	29.0	29.0					1																	19992446		2203	4297	6500	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992446C>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.200C>T	1.37:g.19992446C>T	ENSP00000289753:p.Ser67Leu						p.S67L	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	667	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	67			Helical; Name=2; (By similarity).		Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.200C>T	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953271	0.92660	.	.	ENSG00000158748	ENST00000289753	T	0.39592	1.07	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	H	0.98612	4.28	0.43564	D	0.995886	D	0.89917	1.0	D	0.87578	0.998	D	0.87316	0.2315	9	.	.	.	.	15.3374	0.74269	0.0:1.0:0.0:0.0	.	67	P50406	5HT6R_HUMAN	L	67	ENSP00000289753:S67L	.	S	+	2	0	HTR6	19865033	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.668000	0.83897	2.010000	0.58986	0.485000	0.47835	TCG		0.677	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		5	10	0	0	0	0.001168	0	5	10				
HP1BP3	50809	broad.mit.edu	37	1	21071429	21071429	+	Missense_Mutation	SNP	T	T	A	rs567087580		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:21071429T>A	ENST00000312239.5	-	13	1662	c.1523A>T	c.(1522-1524)aAg>aTg	p.K508M	RP5-930J4.4_ENST00000413451.1_RNA|HP1BP3_ENST00000375003.2_Missense_Mutation_p.K356M	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	508	Lys-rich.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K508M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GGGTCTGGTCTTCTTGGCAGG	0.542																																							uc001bdw.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1522-1524)AAG>ATG		HP1-BP74							120.0	114.0	116.0					1																	21071429		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21071429T>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1523A>T	1.37:g.21071429T>A	ENSP00000312625:p.Lys508Met					HP1BP3_uc001bdv.1_Missense_Mutation_p.K470M|HP1BP3_uc010odh.1_Missense_Mutation_p.K470M|HP1BP3_uc001bdy.1_Missense_Mutation_p.K508M|HP1BP3_uc010odf.1_Missense_Mutation_p.K167M|HP1BP3_uc010odg.1_Missense_Mutation_p.K356M	p.K508M	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	13	1663	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	508			Lys-rich.		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.1523A>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765237	0.69878	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003	T;T	0.54071	0.59;0.61	5.87	3.55	0.40652	.	0.437283	0.28653	N	0.014598	T	0.39963	0.1098	L	0.29908	0.895	0.80722	D	1	P	0.50710	0.938	B	0.41946	0.371	T	0.28839	-1.0031	10	0.87932	D	0	-5.1913	9.84	0.40993	0.0:0.1388:0.0:0.8612	.	508	Q5SSJ5	HP1B3_HUMAN	M	508;470;356	ENSP00000312625:K508M;ENSP00000364142:K356M	ENSP00000312625:K508M	K	-	2	0	HP1BP3	20944016	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.114000	0.50383	0.557000	0.29117	0.533000	0.62120	AAG		0.542	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		12	54	0	0	0	0.000978	0	12	54				
USP48	84196	broad.mit.edu	37	1	22078012	22078012	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:22078012C>A	ENST00000308271.9	-	6	1410	c.762G>T	c.(760-762)tcG>tcT	p.S254S	USP48_ENST00000421625.2_Silent_p.S254S|USP48_ENST00000400301.1_Silent_p.S254S|USP48_ENST00000529637.1_Silent_p.S254S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	254	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.S254S(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCAAAAATTCCGAGATACAAT	0.358																																							uc001bfb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(760-762)TCG>TCT		ubiquitin specific protease 48 isoform a							110.0	115.0	113.0					1																	22078012		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22078012C>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.762G>T	1.37:g.22078012C>A						USP48_uc010odq.1_Silent_p.S254S|USP48_uc009vqc.2_Silent_p.S254S|USP48_uc001bfc.2_Silent_p.S254S|USP48_uc001bfe.1_Silent_p.S254S|USP48_uc001bff.2_Silent_p.S254S	p.S254S	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	6	1000	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	254					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.762G>T	CCDS30623.1																																																																																				0.358	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		17	99	1	0	1.02788e-11	0.00499	1.6949e-11	17	99				
LDLRAD2	401944	broad.mit.edu	37	1	22142456	22142456	+	Missense_Mutation	SNP	C	C	G	rs201003467		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:22142456C>G	ENST00000344642.2	+	3	719	c.532C>G	c.(532-534)Cgc>Ggc	p.R178G	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.R178G	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	178	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)		p.R178G(1)		endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TGCCTACTTCCGCTGCCAGAA	0.627																																							uc001bfg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(532-534)CGC>GGC		low density lipoprotein receptor class A domain							85.0	78.0	80.0					1																	22142456		2203	4300	6503	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22142456C>G	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.532C>G	1.37:g.22142456C>G	ENSP00000340988:p.Arg178Gly						p.R178G	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	719	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	178			Extracellular (Potential).|LDL-receptor class A.		B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.532C>G	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183565	0.38609	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	D;D	0.96232	-3.95;-3.95	4.29	3.35	0.38373	.	1.045830	0.07567	N	0.917991	D	0.95056	0.8399	M	0.62266	1.93	0.26893	N	0.967285	P	0.38597	0.639	B	0.41764	0.366	D	0.88993	0.3416	10	0.30854	T	0.27	-9.3861	8.2895	0.31950	0.0:0.8865:0.0:0.1135	.	178	Q5SZI1	LRAD2_HUMAN	G	178	ENSP00000340988:R178G;ENSP00000444097:R178G	ENSP00000340988:R178G	R	+	1	0	LDLRAD2	22015043	0.996000	0.38824	0.989000	0.46669	0.767000	0.43475	3.603000	0.54074	2.246000	0.74042	0.498000	0.49722	CGC		0.627	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		7	70	0	0	0	0.000978	0	7	70				
RUNX3	864	broad.mit.edu	37	1	25229066	25229066	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:25229066G>C	ENST00000308873.6	-	5	803	c.795C>G	c.(793-795)gaC>gaG	p.D265E	RUNX3_ENST00000540420.1_Missense_Mutation_p.D172E|RUNX3_ENST00000338888.3_Missense_Mutation_p.D279E|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000399916.1_Missense_Mutation_p.D279E	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	265	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)	p.D279E(1)|p.D265E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GCATCCTGGGGTCTGGGAAGC	0.672																																							uc001bjq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(793-795)GAC>GAG		runt-related transcription factor 3 isoform 2							65.0	69.0	68.0					1																	25229066		2194	4295	6489	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229066G>C	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.795C>G	1.37:g.25229066G>C	ENSP00000308051:p.Asp265Glu					RUNX3_uc010oen.1_Missense_Mutation_p.D212E|RUNX3_uc009vrj.2_Missense_Mutation_p.D279E|RUNX3_uc001bjr.2_Missense_Mutation_p.D279E|RUNX3_uc001bjs.2_RNA	p.D265E	NM_004350	NP_004341	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	5	1206	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	265			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.795C>G	CCDS257.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203814	0.58234	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	4.27	4.27	0.50696	.	0.269900	0.39985	N	0.001209	T	0.61324	0.2338	M	0.78456	2.415	0.40727	D	0.982716	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.64011	-0.6507	10	0.51188	T	0.08	-25.5633	10.9115	0.47112	0.0871:0.0:0.9129:0.0	.	212;279;265	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	E	279;265;279;172;212	ENSP00000382800:D279E;ENSP00000308051:D265E;ENSP00000343477:D279E;ENSP00000444872:D172E	ENSP00000308051:D265E	D	-	3	2	RUNX3	25101653	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	3.657000	0.54474	2.395000	0.81488	0.456000	0.33151	GAC		0.672	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		20	44	0	0	0	0.008871	0	20	44				
SEPN1	57190	broad.mit.edu	37	1	26140371	26140371	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:26140371G>T	ENST00000374315.1	+	10	1323		c.e10-1		RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000354177.4_Splice_Site|SEPN1_ENST00000361547.2_Splice_Site|RP1-317E23.3_ENST00000442055.1_RNA|SEPN1_ENST00000494537.1_Splice_Site	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTGAACAGGTTCAGGGCG	0.597																																							uc010oer.1		NA																	1	Unknown(1)		lung(1)	ovary(2)	2	GRCh37	CS083978	SEPN1	S		c.e14-1		selenoprotein N, 1 isoform 1 precursor							72.0	73.0	73.0					1																	26140371		1942	4134	6076	SO:0001630	splice_region_variant	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26140371G>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1286-1G>T	1.37:g.26140371G>T						SEPN1_uc010oes.1_Splice_Site_p.G429_splice	p.G463_splice	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	14	1443	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)						A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Splice_Site	SNP	ENST00000374315.1	37	c.1388_splice	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400928	0.42613	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	.	.	.	5.44	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9325	0.64006	0.0733:0.0:0.9267:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEPN1	26012958	1.000000	0.71417	0.994000	0.49952	0.526000	0.34562	7.555000	0.82223	1.305000	0.44909	0.462000	0.41574	.		0.597	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451	Intron	18	53	1	0	5.35267e-07	0.007413	7.46502e-07	18	53				
CNKSR1	10256	broad.mit.edu	37	1	26509049	26509049	+	Missense_Mutation	SNP	G	G	A	rs140239583	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:26509049G>A	ENST00000374253.5	+	6	637	c.598G>A	c.(598-600)Gag>Aag	p.E200K	CNKSR1_ENST00000361530.6_Missense_Mutation_p.E200K|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	200	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.E200K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCGTGCTCGAGCAGGTGCA	0.632													G|||	4	0.000798722	0.003	0.0	5008	,	,		17492	0.0		0.0	False		,,,				2504	0.0				NSCLC(180;1396 2109 28270 30756 34275)	NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(598-600)GAG>AAG		connector enhancer of kinase suppressor of Ras		G	LYS/GLU	12,4394	19.1+/-41.9	0,12,2191	79.0	73.0	75.0		598	1.5	0.0	1	dbSNP_134	75	0,8600		0,0,4300	yes	missense	CNKSR1	NM_006314.2	56	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	possibly-damaging	200/714	26509049	12,12994	2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26509049G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.598G>A	1.37:g.26509049G>A	ENSP00000363371:p.Glu200Lys					CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.E200K|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	p.E200K	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	6	656	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	200			PDZ.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.598G>A		3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.42|12.42	1.933078|1.933078	0.34096|0.34096	0.002724|0.002724	0.0|0.0	ENSG00000142675|ENSG00000142675	ENST00000361530;ENST00000374253|ENST00000422547	T;T|.	0.19250|.	2.17;2.16|.	4.47|4.47	1.52|1.52	0.23074|0.23074	PDZ/DHR/GLGF (1);|.	0.164522|.	0.52532|.	N|.	0.000077|.	T|T	0.47488|0.47488	0.1448|0.1448	M|M	0.78049|0.78049	2.395|2.395	0.20764|0.20764	N|N	0.999855|0.999855	P;P|.	0.40144|.	0.704;0.704|.	B;B|.	0.31869|.	0.137;0.086|.	T|T	0.47289|0.47289	-0.9129|-0.9129	10|6	0.87932|0.72032	D|D	0|0.01	-6.388|-6.388	7.4334|7.4334	0.27141|0.27141	0.0923:0.3461:0.5617:0.0|0.0923:0.3461:0.5617:0.0	.|.	200;200|.	Q969H4;Q53GM7|.	CNKR1_HUMAN;.|.	K|Q	200|187	ENSP00000354609:E200K;ENSP00000363371:E200K|.	ENSP00000354609:E200K|ENSP00000390945:R187Q	E|R	+|+	1|2	0|0	CNKSR1|CNKSR1	26381636|26381636	0.913000|0.913000	0.31002|0.31002	0.001000|0.001000	0.08648|0.08648	0.518000|0.518000	0.34316|0.34316	1.413000|1.413000	0.34725|0.34725	0.149000|0.149000	0.19098|0.19098	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.632	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		6	24	0	0	0	0.001984	0	6	24				
PIGV	55650	broad.mit.edu	37	1	27120928	27120928	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:27120928C>T	ENST00000374145.1	+	3	1085	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Missense_Mutation_p.H135Y	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	135					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.H135Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGTTGCACTTCATGACCTGGG	0.502																																							uc001bmz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)CAT>TAT		phosphatidylinositol glycan class V							138.0	130.0	133.0					1																	27120928		2203	4300	6503	SO:0001583	missense	55650				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	g.chr1:27120928C>T	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.403C>T	1.37:g.27120928C>T	ENSP00000363260:p.His135Tyr					PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Missense_Mutation_p.H135Y|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Missense_Mutation_p.H135Y	p.H135Y	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	3	734	+		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	135			Lumenal (Potential).		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	ENST00000374145.1	37	c.403C>T	CCDS287.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.764152	0.00651	.	.	ENSG00000060642	ENST00000078527;ENST00000374145;ENST00000455364	D;D;D	0.81821	-1.54;-1.54;-1.54	5.12	4.14	0.48551	.	0.169410	0.53938	D	0.000052	T	0.56543	0.1992	N	0.05259	-0.085	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.52638	-0.8549	9	.	.	.	-12.0891	6.9866	0.24731	0.0:0.7433:0.0:0.2567	.	135	Q9NUD9	PIGV_HUMAN	Y	135	ENSP00000078527:H135Y;ENSP00000363260:H135Y;ENSP00000406080:H135Y	.	H	+	1	0	PIGV	26993515	1.000000	0.71417	0.999000	0.59377	0.286000	0.27126	2.148000	0.42235	2.663000	0.90544	0.457000	0.33378	CAT		0.502	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		4	51	0	0	0	0.009096	0	4	51				
TSSK3	81629	broad.mit.edu	37	1	32829695	32829695	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:32829695C>T	ENST00000373534.3	+	2	1150	c.645C>T	c.(643-645)atC>atT	p.I215I	FAM229A_ENST00000415596.1_5'UTR|FAM229A_ENST00000432622.1_5'Flank	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.I215I(1)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ACACAGACATCCCCAAGATGC	0.567																																							uc001bvf.2		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(1)	1						c.(643-645)ATC>ATT		testis-specific serine kinase 3							156.0	144.0	148.0					1																	32829695		2203	4300	6503	SO:0001819	synonymous_variant	81629				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:32829695C>T	AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.645C>T	1.37:g.32829695C>T						uc001bve.1_5'Flank	p.I215I	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN			2	1086	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)	215			Protein kinase.		Q5TEE5	Silent	SNP	ENST00000373534.3	37	c.645C>T	CCDS362.1																																																																																				0.567	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1			24	87	0	0	0	0.00333	0	24	87				
RLF	6018	broad.mit.edu	37	1	40701547	40701547	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:40701547G>T	ENST00000372771.4	+	8	1200	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	391					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K391N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGGAAATGAAGGCATCAGTTT	0.403																																							uc001cfc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1171-1173)AAG>AAT		rearranged L-myc fusion							90.0	93.0	92.0					1																	40701547		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701547G>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1173G>T	1.37:g.40701547G>T	ENSP00000361857:p.Lys391Asn					RLF_uc001cfd.3_Missense_Mutation_p.K82N	p.K391N	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1204	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	391					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.1173G>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249738	0.39797	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.44482	0.92	6.07	0.93	0.19454	.	0.041358	0.85682	D	0.000000	T	0.56077	0.1961	M	0.62723	1.935	0.47407	D	0.99941	D;D	0.89917	0.992;1.0	D;D	0.69307	0.96;0.963	T	0.57923	-0.7727	10	0.87932	D	0	-15.7496	11.2828	0.49206	0.3292:0.0:0.6708:0.0	.	84;391	F5H2M5;Q13129	.;RLF_HUMAN	N	391;84	ENSP00000361857:K391N	ENSP00000361857:K391N	K	+	3	2	RLF	40474134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.827000	0.39102	0.267000	0.21916	-0.140000	0.14226	AAG		0.403	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		11	48	1	0	1.08611e-07	0.000978	1.558e-07	11	48				
HIVEP3	59269	broad.mit.edu	37	1	42047512	42047512	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:42047512C>A	ENST00000372583.1	-	4	3842	c.2957G>T	c.(2956-2958)cGa>cTa	p.R986L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R986L|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R986L|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R986L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	986	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R986L(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCGCATCTCTCGGGCATGTGG	0.607																																							uc001cgz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2956-2958)CGA>CTA		human immunodeficiency virus type I enhancer							72.0	74.0	73.0					1																	42047512		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047512C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2957G>T	1.37:g.42047512C>A	ENSP00000361664:p.Arg986Leu					HIVEP3_uc001cha.3_Missense_Mutation_p.R986L|HIVEP3_uc001cgy.2_RNA	p.R986L	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	4170	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	986			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2957G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111401	0.77210	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.01	5.01	0.66863	.	0.000000	0.40908	D	0.000996	T	0.48909	0.1526	M	0.71206	2.165	0.40642	D	0.981953	D;D	0.65815	0.995;0.992	P;P	0.60789	0.879;0.76	T	0.53711	-0.8400	10	0.87932	D	0	-7.5275	18.1057	0.89519	0.0:1.0:0.0:0.0	.	986;986	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	986	ENSP00000361665:R986L;ENSP00000361664:R986L;ENSP00000247584:R986L;ENSP00000410828:R986L	ENSP00000247584:R986L	R	-	2	0	HIVEP3	41820099	1.000000	0.71417	0.890000	0.34922	0.833000	0.47200	4.749000	0.62155	2.598000	0.87819	0.462000	0.41574	CGA		0.607	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		15	52	1	0	1.3612e-06	0.003163	1.85225e-06	15	52				
EBNA1BP2	10969	broad.mit.edu	37	1	43637772	43637772	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:43637772G>A	ENST00000236051.2	-	1	159	c.18C>T	c.(16-18)ctC>ctT	p.L6L	WDR65_ENST00000528956.1_5'Flank|WDR65_ENST00000372492.4_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000431635.2_Silent_p.L61L	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	6					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L6L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCGAATCCGAGAGCGGGGGAG	0.647																																							uc001cin.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)CTC>CTT		EBNA1 binding protein 2 isoform 2							49.0	45.0	46.0					1																	43637772		2203	4300	6503	SO:0001819	synonymous_variant	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43637772G>A	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.18C>T	1.37:g.43637772G>A						EBNA1BP2_uc001cio.2_Silent_p.L61L|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_5'Flank|EBNA1BP2_uc010ojx.1_Silent_p.L61L|EBNA1BP2_uc010ojy.1_5'Flank	p.L6L	NM_006824	NP_006815	Q99848	EBP2_HUMAN			1	215	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	6					Q96A66	Silent	SNP	ENST00000236051.2	37	c.18C>T	CCDS478.1																																																																																				0.647	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			5	20	0	0	0	0.000602	0	5	20				
CYP4B1	1580	broad.mit.edu	37	1	47283692	47283692	+	Silent	SNP	C	C	G	rs186785862		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:47283692C>G	ENST00000271153.4	+	10	1296	c.1260C>G	c.(1258-1260)ccC>ccG	p.P420P	CYP4B1_ENST00000371923.4_Silent_p.P421P|CYP4B1_ENST00000452782.2_Silent_p.P258P|CYP4B1_ENST00000371919.4_Silent_p.P406P			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	420					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.P420P(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CTGTATGGCCCGACCCTGAGG	0.582																																							uc001cqm.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1258-1260)CCC>CCG		cytochrome P450, family 4, subfamily B,							164.0	144.0	151.0					1																	47283692		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47283692C>G	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1260C>G	1.37:g.47283692C>G						CYP4B1_uc001cqn.3_Silent_p.P421P|CYP4B1_uc009vym.2_Silent_p.P406P|CYP4B1_uc010omk.1_Silent_p.P257P	p.P420P	NM_000779	NP_000770	P13584	CP4B1_HUMAN			10	1344	+	Acute lymphoblastic leukemia(166;0.155)		420					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.1260C>G	CCDS542.1																																																																																				0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		25	109	0	0	0	0.00632	0	25	109				
TAL1	6886	broad.mit.edu	37	1	47685674	47685674	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:47685674G>T	ENST00000294339.3	-	4	1290	c.714C>A	c.(712-714)ttC>ttA	p.F238L	TAL1_ENST00000371884.2_Missense_Mutation_p.F238L|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.F240L	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	238	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F238L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTTGGCCAAGAAGTTGATAT	0.622			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																		uc001cqx.2		NA		Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(712-714)TTC>TTA		T-cell acute lymphocytic leukemia 1							43.0	42.0	43.0					1																	47685674		2203	4300	6503	SO:0001583	missense	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685674G>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.714C>A	1.37:g.47685674G>T	ENSP00000294339:p.Phe238Leu					TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.F238L	p.F238L	NM_003189	NP_003180	P17542	TAL1_HUMAN			4	1291	-			238			Helix-loop-helix motif.		D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	c.714C>A	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517759	0.85495	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97850	-4.57;-4.57;-4.57	5.53	4.62	0.57501	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96540	0.8871	N	0.11818	0.18	0.58432	D	0.999991	P	0.37500	0.597	P	0.60541	0.876	D	0.95680	0.8731	10	0.45353	T	0.12	.	10.8254	0.46629	0.1454:0.0:0.8546:0.0	.	238	P17542	TAL1_HUMAN	L	238;240;238	ENSP00000360951:F238L;ENSP00000360950:F240L;ENSP00000294339:F238L	ENSP00000294339:F238L	F	-	3	2	TAL1	47458261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.677000	0.61634	1.340000	0.45581	0.579000	0.79373	TTC		0.622	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		6	35	1	0	8.12818e-05	0.001984	9.82943e-05	6	35				
KTI12	112970	broad.mit.edu	37	1	52498521	52498521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:52498521C>A	ENST00000371614.1	-	1	967	c.913G>T	c.(913-915)Gag>Tag	p.E305*	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	305							ATP binding (GO:0005524)	p.E305*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CGCAAGTGCTCTGTGGTACCA	0.547																																							uc001ctj.1		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(913-915)GAG>TAG		KTI12 homolog, chromatin associated							88.0	89.0	88.0					1																	52498521		2203	4300	6503	SO:0001587	stop_gained	112970						ATP binding	g.chr1:52498521C>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.913G>T	1.37:g.52498521C>A	ENSP00000360676:p.Glu305*					TXNDC12_uc001cti.2_Intron	p.E305*	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN			1	952	-			305						Nonsense_Mutation	SNP	ENST00000371614.1	37	c.913G>T	CCDS562.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992417	0.93167	.	.	ENSG00000198841	ENST00000371614	.	.	.	4.64	4.64	0.57946	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	11.8655	0.52490	0.1744:0.8256:0.0:0.0	.	.	.	.	X	305	.	ENSP00000360676:E305X	E	-	1	0	KTI12	52271109	0.993000	0.37304	0.982000	0.44146	0.735000	0.41995	3.415000	0.52700	2.396000	0.81511	0.557000	0.71058	GAG		0.547	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		16	71	1	0	2.31682e-05	0.003163	2.9206e-05	16	71				
MROH7	374977	broad.mit.edu	37	1	55148376	55148376	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:55148376G>C	ENST00000421030.2	+	14	2714	c.2429G>C	c.(2428-2430)tGt>tCt	p.C810S	MROH7_ENST00000339553.5_Missense_Mutation_p.C810S|MROH7_ENST00000454855.2_Missense_Mutation_p.C328S|MROH7_ENST00000545244.1_Missense_Mutation_p.C378S|MROH7_ENST00000409996.1_Missense_Mutation_p.C378S|MROH7_ENST00000395690.2_Missense_Mutation_p.C810S|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.C810S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	810						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.C810S(2)									AAGCCCAGCTGTGATGTCCGA	0.612																																							uc010ooe.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2428-2430)TGT>TCT		hypothetical protein LOC374977							90.0	91.0	91.0					1																	55148376		2042	4205	6247	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55148376G>C	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2429G>C	1.37:g.55148376G>C	ENSP00000396622:p.Cys810Ser					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.C378S|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.C328S|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.C810S|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.C12S	p.C810S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			14	2753	+			810					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2429G>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856385	0.51376	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.03607	4.87;3.87;4.34;4.63;4.51;4.35	4.0	4.0	0.46444	Armadillo-type fold (1);	.	.	.	.	T	0.05273	0.0140	L	0.31207	0.915	0.28530	N	0.912642	P;P;B;P	0.46512	0.879;0.774;0.178;0.879	P;B;B;P	0.50934	0.654;0.389;0.033;0.58	T	0.15093	-1.0449	9	0.09338	T	0.73	-0.5988	11.783	0.52026	0.0:0.0:1.0:0.0	.	810;810;378;810	F8W8P2;Q68CQ1;F5H7R4;Q68CQ1-9	.;HEAT8_HUMAN;.;.	S	810;378;839;810;378;328;810	ENSP00000396622:C810S;ENSP00000442333:C378S;ENSP00000343211:C810S;ENSP00000387048:C378S;ENSP00000401130:C328S;ENSP00000379044:C810S	ENSP00000343211:C810S	C	+	2	0	HEATR8	54920964	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.827000	0.48112	2.233000	0.73108	0.455000	0.32223	TGT		0.612	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		19	64	0	0	0	0.007413	0	19	64				
DHCR24	1718	broad.mit.edu	37	1	55319740	55319740	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:55319740C>G	ENST00000371269.3	-	7	1286	c.1188G>C	c.(1186-1188)caG>caC	p.Q396H	DHCR24_ENST00000537443.1_Missense_Mutation_p.Q180H|DHCR24_ENST00000535035.1_Missense_Mutation_p.Q355H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	396					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.Q396H(1)		large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGTGCAGGGCCTGCTGCAGGC	0.622																																					Pancreas(39;516 1021 24601 30715 32780)	Pancreas(39;516 1021 24601 30715 32780)	uc001cyc.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1186-1188)CAG>CAC		24-dehydrocholesterol reductase precursor							58.0	49.0	52.0					1																	55319740		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55319740C>G	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1188G>C	1.37:g.55319740C>G	ENSP00000360316:p.Gln396His					DHCR24_uc010ooi.1_Missense_Mutation_p.Q39H|DHCR24_uc010ooj.1_Missense_Mutation_p.Q210H|DHCR24_uc010ook.1_Missense_Mutation_p.Q355H	p.Q396H	NM_014762	NP_055577	Q15392	DHC24_HUMAN			7	1317	-			396					B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.1188G>C	CCDS600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.25|13.25	2.181086|2.181086	0.38511|0.38511	.|.	.|.	ENSG00000116133|ENSG00000116133	ENST00000436604|ENST00000371269;ENST00000537443;ENST00000535035	.|T;T;T	.|0.69926	.|-0.44;-0.44;-0.44	5.06|5.06	4.15|4.15	0.48705|0.48705	.|.	.|0.273612	.|0.42172	.|D	.|0.000751	T|T	0.49474|0.49474	0.1559|0.1559	N|N	0.22421|0.22421	0.69|0.69	0.34830|0.34830	D|D	0.739544|0.739544	.|P;P;P	.|0.43826	.|0.818;0.818;0.818	.|B;B;B	.|0.40534	.|0.332;0.332;0.252	T|T	0.63097|0.63097	-0.6713|-0.6713	5|10	.|0.87932	.|D	.|0	-12.9571|-12.9571	6.5243|6.5243	0.22293|0.22293	0.0:0.6803:0.0:0.3197|0.0:0.6803:0.0:0.3197	.|.	.|355;355;396	.|B7Z817;B7ZAV4;Q15392	.|.;.;DHC24_HUMAN	R|H	34|396;180;355	.|ENSP00000360316:Q396H;ENSP00000439852:Q180H;ENSP00000440191:Q355H	.|ENSP00000360316:Q396H	G|Q	-|-	1|3	0|2	DHCR24|DHCR24	55092328|55092328	0.954000|0.954000	0.32549|0.32549	0.988000|0.988000	0.46212|0.46212	0.977000|0.977000	0.68977|0.68977	0.157000|0.157000	0.16402|0.16402	1.273000|1.273000	0.44346|0.44346	0.561000|0.561000	0.74099|0.74099	GGC|CAG		0.622	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		4	12	0	0	0	0.009096	0	4	12				
INADL	10207	broad.mit.edu	37	1	62293239	62293239	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:62293239C>G	ENST00000371158.2	+	16	2078	c.1964C>G	c.(1963-1965)tCt>tGt	p.S655C	INADL_ENST00000316485.6_Missense_Mutation_p.S655C	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	655					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S655C(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACTGAAACCTCTCTTCCTGAG	0.453																																							uc001dab.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1963-1965)TCT>TGT		InaD-like							138.0	135.0	136.0					1																	62293239		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62293239C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1964C>G	1.37:g.62293239C>G	ENSP00000360200:p.Ser655Cys					INADL_uc009waf.1_Missense_Mutation_p.S655C|INADL_uc001daa.2_Missense_Mutation_p.S655C|INADL_uc001dad.3_Missense_Mutation_p.S352C|INADL_uc001dac.2_RNA	p.S655C	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			16	2078	+			655					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.1964C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251821	0.39797	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.14640	2.61;2.49	5.37	-0.607	0.11615	.	0.965983	0.08513	N	0.934678	T	0.16385	0.0394	L	0.44542	1.39	0.09310	N	1	P;P;D	0.55385	0.937;0.726;0.971	P;B;P	0.49752	0.599;0.237;0.621	T	0.26883	-1.0090	10	0.56958	D	0.05	.	6.9291	0.24432	0.0:0.5432:0.233:0.2238	.	655;655;655	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	C	655	ENSP00000360200:S655C;ENSP00000326199:S655C	ENSP00000255202:S655C	S	+	2	0	INADL	62065827	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.969000	0.29370	-0.013000	0.14199	0.591000	0.81541	TCT		0.453	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		15	64	0	0	0	0.00499	0	15	64				
ROR1	4919	broad.mit.edu	37	1	64515413	64515413	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:64515413G>T	ENST00000371079.1	+	3	589	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.G72C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	72	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.G72C(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACGTCTCTGGGCCAGACAGC	0.557																																							uc001dbj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(214-216)GGC>TGC		receptor tyrosine kinase-like orphan receptor 1							140.0	134.0	136.0					1																	64515413		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64515413G>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.214G>T	1.37:g.64515413G>T	ENSP00000360120:p.Gly72Cys					ROR1_uc001dbi.3_Missense_Mutation_p.G72C	p.G72C	NM_005012	NP_005003	Q01973	ROR1_HUMAN			3	613	+			72			Ig-like C2-type.|Extracellular (Potential).		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.214G>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923040	0.92319	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	D;D	0.81499	-1.5;-1.5	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43919	D	0.000513	D	0.94398	0.8198	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96125	0.9088	10	0.87932	D	0	.	20.062	0.97678	0.0:0.0:1.0:0.0	.	72;72	Q01973;Q66K77	ROR1_HUMAN;.	C	72;72;75	ENSP00000360121:G72C;ENSP00000360120:G72C	ENSP00000360120:G72C	G	+	1	0	ROR1	64288001	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.441000	0.97557	2.730000	0.93505	0.563000	0.77884	GGC		0.557	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		16	68	1	0	1.3612e-06	0.003163	1.85225e-06	16	68				
IL12RB2	3595	broad.mit.edu	37	1	67861345	67861345	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:67861345C>G	ENST00000262345.1	+	16	2802	c.2162C>G	c.(2161-2163)cCc>cGc	p.P721R	IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P635R|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	721					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.P721R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTCAGACATCCCCCCTGCTCC	0.542																																							uc001ddu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2161-2163)CCC>CGC		interleukin 12 receptor, beta 2 precursor							84.0	84.0	84.0					1																	67861345		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861345C>G	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2162C>G	1.37:g.67861345C>G	ENSP00000262345:p.Pro721Arg					IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.P635R|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	p.P721R	NM_001559	NP_001550	Q99665	I12R2_HUMAN			16	2802	+			721			Cytoplasmic (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2162C>G	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619068	0.46736	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.39056	1.1;2.0	4.98	4.06	0.47325	.	0.435695	0.21954	N	0.066696	T	0.43634	0.1256	M	0.63428	1.95	0.22675	N	0.998861	D;D	0.76494	0.999;0.966	D;P	0.67548	0.952;0.641	T	0.31668	-0.9935	10	0.62326	D	0.03	-3.8472	9.532	0.39200	0.0:0.9005:0.0:0.0995	.	635;721	F5H7L6;Q99665	.;I12R2_HUMAN	R	721;635	ENSP00000262345:P721R;ENSP00000442443:P635R	ENSP00000262345:P721R	P	+	2	0	IL12RB2	67633933	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	0.446000	0.21694	1.210000	0.43336	0.462000	0.41574	CCC		0.542	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		5	22	0	0	0	0.001168	0	5	22				
LRRC7	57554	broad.mit.edu	37	1	70541879	70541879	+	Missense_Mutation	SNP	G	G	T	rs143842567		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:70541879G>T	ENST00000035383.5	+	22	4266	c.4236G>T	c.(4234-4236)ttG>ttT	p.L1412F	LRRC7_ENST00000415775.2_Missense_Mutation_p.L696F|LRRC7_ENST00000310961.5_Missense_Mutation_p.L1370F	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1412						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L1412F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTCACCATTGCCTATTCAGA	0.517																																							uc001dep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4234-4236)TTG>TTT		leucine rich repeat containing 7							100.0	94.0	96.0					1																	70541879		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541879G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4236G>T	1.37:g.70541879G>T	ENSP00000035383:p.Leu1412Phe					LRRC7_uc009wbg.2_Missense_Mutation_p.L696F|LRRC7_uc001deq.2_Missense_Mutation_p.L606F	p.L1412F	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			22	4266	+			1412					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4236G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080693	0.76528	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39229	1.09;1.15;2.25	6.06	4.05	0.47172	.	0.165228	0.36932	N	0.002337	T	0.28134	0.0694	N	0.08118	0	0.44359	D	0.997259	D;D;D	0.76494	0.996;0.999;0.998	P;D;D	0.83275	0.89;0.996;0.991	T	0.15263	-1.0443	10	0.54805	T	0.06	.	6.4044	0.21656	0.0713:0.1295:0.6654:0.1337	.	696;1365;1412	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	F	1370;1412;696;1188	ENSP00000309245:L1370F;ENSP00000035383:L1412F;ENSP00000394867:L696F	ENSP00000035383:L1412F	L	+	3	2	LRRC7	70314467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.068000	0.50018	2.880000	0.98712	0.650000	0.86243	TTG		0.517	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		11	55	1	0	9.70103e-10	0.008291	1.52042e-09	11	55				
TNNI3K	51086	broad.mit.edu	37	1	74701175	74701175	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:74701175G>T	ENST00000326637.3	+	1	91	c.40G>T	c.(40-42)Gat>Tat	p.D14Y	FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron	NM_015978.2	NP_057062.1			TNNI3 interacting kinase									p.D14Y(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						AACTTGTACTGGTAATTATTC	0.289																																							uc001dgf.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(40-42)GAT>TAT		TNNI3 interacting kinase isoform b							81.0	92.0	88.0					1																	74701175		2202	4293	6495	SO:0001630	splice_region_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74701175G>T	AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.40+1G>T	1.37:g.74701175G>T						TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron	p.D14Y	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			1	91	+			14						Missense_Mutation	SNP	ENST00000326637.3	37	c.40G>T	CCDS664.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394988	0.62066	.	.	ENSG00000116783	ENST00000326637	T	0.78707	-1.2	5.92	4.07	0.47477	.	.	.	.	.	D	0.83972	0.5370	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.86249	0.1648	8	0.87932	D	0	.	12.2586	0.54636	0.1359:0.0:0.8641:0.0	.	14	Q59H18	TNI3K_HUMAN	Y	14	ENSP00000322251:D14Y	ENSP00000322251:D14Y	D	+	1	0	AC093158.1	74473763	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.288000	0.72679	0.855000	0.35359	0.585000	0.79938	GAT		0.289	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026432.1	NM_015978	Missense_Mutation	7	64	1	0	5.18039e-06	0.00308	6.82593e-06	7	64				
ERICH3	127254	broad.mit.edu	37	1	75037806	75037806	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:75037806C>G	ENST00000326665.5	-	14	3806	c.3588G>C	c.(3586-3588)ctG>ctC	p.L1196L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1196	Glu-rich.							p.L1196L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCTGCTGGACAGCTCTTCTC	0.552																																							uc001dgg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3586-3588)CTG>CTC		hypothetical protein LOC127254							144.0	142.0	142.0					1																	75037806		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037806C>G																												ENST00000326665.5:c.3588G>C	1.37:g.75037806C>G							p.L1196L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3807	-			1196			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.3588G>C	CCDS30755.1																																																																																				0.552	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			14	126	0	0	0	0.003163	0	14	126				
ERICH3	127254	broad.mit.edu	37	1	75072430	75072430	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:75072430G>T	ENST00000326665.5	-	10	1562	c.1344C>A	c.(1342-1344)aaC>aaA	p.N448K	C1orf173_ENST00000420661.2_Missense_Mutation_p.N251K|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		448	Glu-rich.							p.N448K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGAGGTTTTGTTCTCCTTGA	0.408																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1342-1344)AAC>AAA		hypothetical protein LOC127254							177.0	176.0	177.0					1																	75072430		2202	4299	6501	SO:0001583	missense	127254							g.chr1:75072430G>T																												ENST00000326665.5:c.1344C>A	1.37:g.75072430G>T	ENSP00000322609:p.Asn448Lys					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.N242K	p.N448K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1563	-			448			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1344C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.414330	0.01145	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.16743	2.83;2.32	4.72	0.693	0.18056	.	.	.	.	.	T	0.01835	0.0058	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.46247	-0.9205	9	0.05351	T	0.99	-1.9543	1.804	0.03077	0.1667:0.181:0.4816:0.1707	.	251;448	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	K	448;251	ENSP00000322609:N448K;ENSP00000398581:N251K	ENSP00000322609:N448K	N	-	3	2	C1orf173	74845018	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.778000	0.04664	0.023000	0.15187	0.650000	0.86243	AAC		0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			23	122	1	0	2.21704e-12	0.00278	3.6976e-12	23	122				
TYW3	127253	broad.mit.edu	37	1	75229748	75229748	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:75229748A>T	ENST00000370867.3	+	6	820	c.731A>T	c.(730-732)gAt>gTt	p.D244V	TYW3_ENST00000421739.2_Missense_Mutation_p.D160V|TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000479111.1_Missense_Mutation_p.D124V|TYW3_ENST00000457880.2_Missense_Mutation_p.D211V	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	244					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.D244V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GAAAATGATGATGATGATGAT	0.323																																							uc001dgn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(730-732)GAT>GTT		tRNA-yW synthesizing protein 3 homolog isoform							125.0	131.0	129.0					1																	75229748		2203	4300	6503	SO:0001583	missense	127253				tRNA processing		methyltransferase activity	g.chr1:75229748A>T	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.731A>T	1.37:g.75229748A>T	ENSP00000359904:p.Asp244Val					TYW3_uc010oqw.1_Missense_Mutation_p.D211V|TYW3_uc010oqx.1_Missense_Mutation_p.D160V|TYW3_uc010oqy.1_RNA	p.D244V	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN			6	820	+			244					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	c.731A>T	CCDS666.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287265	0.40494	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T	0.47869	0.83;1.42	5.3	0.195	0.15151	.	0.944739	0.09094	N	0.849478	T	0.20170	0.0485	L	0.57536	1.79	0.19575	N	0.999965	B;B;B	0.10296	0.003;0.003;0.001	B;B;B	0.10450	0.005;0.005;0.002	T	0.38178	-0.9673	10	0.72032	D	0.01	-2.3551	3.6913	0.08347	0.5918:0.0:0.255:0.1532	.	160;211;244	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	V	211;244;160	ENSP00000407025:D211V;ENSP00000359904:D244V	ENSP00000359904:D244V	D	+	2	0	TYW3	75002336	0.059000	0.20769	0.001000	0.08648	0.055000	0.15305	1.580000	0.36547	-0.125000	0.11703	-0.256000	0.11100	GAT		0.323	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		6	70	0	0	0	0.001984	0	6	70				
ST6GALNAC3	256435	broad.mit.edu	37	1	76779596	76779596	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:76779596A>T	ENST00000328299.3	+	2	273	c.125A>T	c.(124-126)cAa>cTa	p.Q42L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	42					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.Q42L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGCTTTGGACAACCTGGTACA	0.448																																							uc001dhh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(124-126)CAA>CTA		sialyltransferase 7C isoform 1							202.0	176.0	185.0					1																	76779596		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76779596A>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.125A>T	1.37:g.76779596A>T	ENSP00000329214:p.Gln42Leu					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.Q42L|ST6GALNAC3_uc010orh.1_Intron	p.Q42L	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			2	288	+			42			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.125A>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.540399	0.45176	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30981	1.51	5.12	3.98	0.46160	.	0.186126	0.49305	N	0.000158	T	0.10895	0.0266	L	0.32530	0.975	0.41396	D	0.987647	B;P	0.36535	0.255;0.557	B;B	0.32864	0.049;0.154	T	0.06006	-1.0851	10	0.44086	T	0.13	-31.7692	10.2712	0.43483	0.9199:0.0:0.0801:0.0	.	42;42	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	L	42;42;41	ENSP00000329214:Q42L	ENSP00000329214:Q42L	Q	+	2	0	ST6GALNAC3	76552184	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	3.472000	0.53114	1.922000	0.55676	0.402000	0.26972	CAA		0.448	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		9	55	0	0	0	0.000978	0	9	55				
LPHN2	23266	broad.mit.edu	37	1	82416772	82416772	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:82416772T>C	ENST00000370728.1	+	10	2208	c.1563T>C	c.(1561-1563)tgT>tgC	p.C521C	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.C521C|LPHN2_ENST00000370715.1_Silent_p.C521C|LPHN2_ENST00000370727.1_Silent_p.C521C|LPHN2_ENST00000370725.1_Silent_p.C521C|LPHN2_ENST00000370730.1_Silent_p.C521C|LPHN2_ENST00000335786.5_Silent_p.C521C|LPHN2_ENST00000271029.4_Silent_p.C521C|LPHN2_ENST00000370721.1_Silent_p.C459C|LPHN2_ENST00000394879.1_Silent_p.C521C|LPHN2_ENST00000370717.2_Silent_p.C521C|LPHN2_ENST00000370723.1_Silent_p.C521C|LPHN2_ENST00000359929.3_Silent_p.C521C|LPHN2_ENST00000370713.1_Silent_p.C521C			O95490	LPHN2_HUMAN	latrophilin 2	521					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.C521C(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTAGCAACTGTACCTCACACT	0.413																																							uc001dit.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1561-1563)TGT>TGC		latrophilin 2 precursor							114.0	109.0	110.0					1																	82416772		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82416772T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1563T>C	1.37:g.82416772T>C						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.C521C|LPHN2_uc001div.2_Silent_p.C521C|LPHN2_uc009wcd.2_Silent_p.C521C|LPHN2_uc001diw.2_Silent_p.C92C	p.C521C	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1744	+			521			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.1563T>C		.	.	.	.	.	.	.	.	.	.	T	6.635	0.485712	0.12641	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.96	0.998	0.19857	.	.	.	.	.	T	0.44644	0.1303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38714	-0.9648	4	.	.	.	.	10.4116	0.44296	0.0:0.4064:0.0:0.5936	.	.	.	.	A	389	.	.	V	+	2	0	LPHN2	82189360	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.538000	0.23160	0.209000	0.20645	0.528000	0.53228	GTA		0.413	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		9	67	0	0	0	0.004482	0	9	67				
TTLL7	79739	broad.mit.edu	37	1	84394841	84394841	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:84394841C>A	ENST00000260505.8	-	10	1497	c.1120G>T	c.(1120-1122)Gcg>Tcg	p.A374S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	374	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.A374S(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGCTTCAACGCATTTAGCAGC	0.338																																							uc001djc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1120-1122)GCG>TCG		tubulin tyrosine ligase-like family, member 7							131.0	118.0	122.0					1																	84394841		2202	4300	6502	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84394841C>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1120G>T	1.37:g.84394841C>A	ENSP00000260505:p.Ala374Ser					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	p.A374S	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	10	1516	-			374			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1120G>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658546	0.47467	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.05513	3.43	4.96	4.96	0.65561	.	0.110120	0.64402	D	0.000008	T	0.04092	0.0114	L	0.45228	1.405	0.80722	D	1	B	0.14438	0.01	B	0.17722	0.019	T	0.30679	-0.9970	10	0.42905	T	0.14	.	18.613	0.91293	0.0:1.0:0.0:0.0	.	374	Q6ZT98	TTLL7_HUMAN	S	374;151;374	ENSP00000260505:A374S	ENSP00000260505:A374S	A	-	1	0	TTLL7	84167429	1.000000	0.71417	0.999000	0.59377	0.228000	0.25075	7.330000	0.79181	2.457000	0.83068	0.650000	0.86243	GCG		0.338	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		6	41	1	0	0.00116845	0.001168	0.00130265	6	41				
LPAR3	23566	broad.mit.edu	37	1	85331308	85331308	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:85331308C>A	ENST00000440886.1	-	1	534	c.496G>T	c.(496-498)Ggc>Tgc	p.G166C	LPAR3_ENST00000491034.1_Intron|LPAR3_ENST00000370611.3_Missense_Mutation_p.G166C			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	166					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.G166C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAATTCCAGCCCAGTGTGGGG	0.542																																							uc001dkl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(496-498)GGC>TGC		lysophosphatidic acid receptor 3							114.0	115.0	115.0					1																	85331308		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331308C>A	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.496G>T	1.37:g.85331308C>A	ENSP00000395389:p.Gly166Cys					LPAR3_uc009wcj.1_Missense_Mutation_p.G166C	p.G166C	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	535	-			166			Helical; Name=4; (Potential).		A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.496G>T	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330661	0.81690	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.73681	-0.77;-0.77	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87966	0.6311	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90131	0.4206	10	0.87932	D	0	.	19.0389	0.92991	0.0:1.0:0.0:0.0	.	166	Q9UBY5	LPAR3_HUMAN	C	166	ENSP00000395389:G166C;ENSP00000359643:G166C	ENSP00000359643:G166C	G	-	1	0	LPAR3	85103896	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.789000	0.85783	2.501000	0.84356	0.655000	0.94253	GGC		0.542	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		24	105	1	0	1.42536e-11	0.004656	2.34235e-11	24	105				
COL24A1	255631	broad.mit.edu	37	1	86591549	86591549	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:86591549C>A	ENST00000370571.2	-	3	836	c.470G>T	c.(469-471)aGt>aTt	p.S157I	COL24A1_ENST00000436319.1_Missense_Mutation_p.S157I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	157	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.S157I(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATCATGAACACTGTAGTTGAA	0.343																																							uc001dlj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(469-471)AGT>ATT		collagen, type XXIV, alpha 1 precursor							60.0	55.0	57.0					1																	86591549		1850	4096	5946	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591549C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.470G>T	1.37:g.86591549C>A	ENSP00000359603:p.Ser157Ile					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.S157I	p.S157I	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	512	-			157			TSP N-terminal.|Laminin G-like.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.470G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747387	0.49257	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02395	4.31;4.31	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.46758	D	0.000275	T	0.07999	0.0200	M	0.68317	2.08	0.41635	D	0.989042	D;D	0.61080	0.98;0.989	P;P	0.58331	0.804;0.837	T	0.02307	-1.1179	10	0.87932	D	0	.	19.0718	0.93140	0.0:1.0:0.0:0.0	.	157;157	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	157	ENSP00000359603:S157I;ENSP00000392531:S157I	ENSP00000359603:S157I	S	-	2	0	COL24A1	86364137	0.999000	0.42202	1.000000	0.80357	0.960000	0.62799	3.466000	0.53071	2.751000	0.94390	0.655000	0.94253	AGT		0.343	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		10	22	1	0	7.48243e-07	0.006214	1.03265e-06	10	22				
GBP4	115361	broad.mit.edu	37	1	89655791	89655791	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:89655791C>T	ENST00000355754.6	-	7	1224	c.1127G>A	c.(1126-1128)aGg>aAg	p.R376K		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R376K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AATGGCTTCCCTCTCACAGGC	0.527																																							uc001dnb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1126-1128)AGG>AAG		guanylate binding protein 4							100.0	94.0	96.0					1																	89655791		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89655791C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1127G>A	1.37:g.89655791C>T	ENSP00000359490:p.Arg376Lys						p.R376K	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	7	1243	-			376					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1127G>A	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	1.303	-0.604409	0.03717	.	.	ENSG00000162654	ENST00000355754	T	0.01745	4.66	5.07	-7.01	0.01594	Guanylate-binding protein, C-terminal (3);	0.698497	0.14798	N	0.297821	T	0.00271	0.0008	N	0.04880	-0.145	0.20563	N	0.999887	B	0.06786	0.001	B	0.11329	0.006	T	0.37911	-0.9685	10	0.02654	T	1	.	14.3981	0.67025	0.0:0.6088:0.0:0.3912	.	376	Q96PP9	GBP4_HUMAN	K	376	ENSP00000359490:R376K	ENSP00000359490:R376K	R	-	2	0	GBP4	89428379	0.012000	0.17670	0.879000	0.34478	0.157000	0.22087	-0.891000	0.04135	-1.417000	0.02017	-0.136000	0.14681	AGG		0.527	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		4	34	0	0	0	0.009096	0	4	34				
CDC7	8317	broad.mit.edu	37	1	91989846	91989846	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:91989846G>A	ENST00000428239.1	+	12	1838	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	CDC7_ENST00000234626.6_Missense_Mutation_p.E527K|CDC7_ENST00000430031.2_Missense_Mutation_p.E499K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	527	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E527K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ttgttttgatgagtataATAC	0.388																																							uc001doe.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5						c.(1579-1581)GAG>AAG		cell division cycle 7							146.0	151.0	149.0					1																	91989846		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91989846G>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1579G>A	1.37:g.91989846G>A	ENSP00000393139:p.Glu527Lys					CDC7_uc001dof.2_Missense_Mutation_p.E527K|CDC7_uc010osw.1_Missense_Mutation_p.E499K|CDC7_uc009wdc.2_Missense_Mutation_p.E527K|CDC7_uc009wdd.2_Missense_Mutation_p.E170K	p.E527K	NM_003503	NP_003494	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	12	1744	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	527			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.1579G>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128562	0.37533	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.47528	0.84;0.99;0.99	5.94	4.02	0.46733	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.250400	0.05102	N	0.487276	T	0.09992	0.0245	N	0.11560	0.145	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.15052	0.006;0.012;0.008	T	0.22556	-1.0213	10	0.07482	T	0.82	-0.3394	8.0959	0.30829	0.3008:0.0:0.6992:0.0	.	499;527;527	B7Z5H7;B2R6V2;O00311	.;.;CDC7_HUMAN	K	499;527;527	ENSP00000407477:E499K;ENSP00000234626:E527K;ENSP00000393139:E527K	ENSP00000234626:E527K	E	+	1	0	CDC7	91762434	0.001000	0.12720	0.006000	0.13384	0.369000	0.29798	1.118000	0.31246	1.456000	0.47831	0.650000	0.86243	GAG		0.388	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		19	108	0	0	0	0.008871	0	19	108				
BTBD8	284697	broad.mit.edu	37	1	92554427	92554427	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:92554427G>C	ENST00000342818.3	+	2	558	c.322G>C	c.(322-324)Gct>Cct	p.A108P	BTBD8_ENST00000370382.3_Missense_Mutation_p.A108P|BTBD8_ENST00000540648.1_Missense_Mutation_p.A108P	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	108	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)		p.A108P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GAATGTTGAAGCTTTAGAATT	0.294																																							uc001doo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)GCT>CCT		BTB (POZ) domain containing 8							96.0	91.0	93.0					1																	92554427		2202	4300	6502	SO:0001583	missense	284697					nucleus		g.chr1:92554427G>C	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.322G>C	1.37:g.92554427G>C	ENSP00000343686:p.Ala108Pro					BTBD8_uc010otc.1_RNA	p.A108P	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	2	589	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	108			BTB 1.		Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.322G>C	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	9.650	1.141224	0.21205	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.63744	-0.06;-0.06;-0.06	5.31	-0.566	0.11767	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.896444	0.09525	N	0.790314	T	0.18299	0.0439	N	0.12663	0.25	0.27045	N	0.96391	B	0.12013	0.005	B	0.14578	0.011	T	0.19976	-1.0289	10	0.30854	T	0.27	-5.5772	6.5847	0.22614	0.3269:0.1942:0.4788:0.0	.	108	Q5XKL5	BTBD8_HUMAN	P	108	ENSP00000359408:A108P;ENSP00000343686:A108P;ENSP00000443397:A108P	ENSP00000343686:A108P	A	+	1	0	BTBD8	92327015	0.929000	0.31497	0.991000	0.47740	0.939000	0.58152	0.209000	0.17435	0.074000	0.16767	-0.218000	0.12543	GCT		0.294	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		11	25	0	0	0	0.008291	0	11	25				
DNTTIP2	30836	broad.mit.edu	37	1	94341979	94341979	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:94341979G>A	ENST00000436063.2	-	2	1569	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y504Y(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CCTCTTCCAAGTAAAAATTTT	0.393																																							uc001dqf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1510-1512)TAC>TAT		deoxynucleotidyltransferase, terminal,							84.0	75.0	77.0					1																	94341979		1850	4111	5961	SO:0001819	synonymous_variant	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94341979G>A	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1512C>T	1.37:g.94341979G>A						DNTTIP2_uc010otm.1_RNA	p.Y504Y	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1550	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	504					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	c.1512C>T	CCDS44174.1																																																																																				0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		4	11	0	0	0	0.009096	0	4	11				
DPYD	1806	broad.mit.edu	37	1	97658654	97658654	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:97658654C>A	ENST00000370192.3	-	20	2693	c.2593G>T	c.(2593-2595)Gtt>Ttt	p.V865F	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	865					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.V865F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATACGTGGAACTGGTTTCCCT	0.433																																							uc001drv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(2593-2595)GTT>TTT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						201.0	174.0	183.0					1																	97658654		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97658654C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2593G>T	1.37:g.97658654C>A	ENSP00000359211:p.Val865Phe						p.V865F	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	20	2730	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	865					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2593G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973226	0.53614	.	.	ENSG00000188641	ENST00000370192	D	0.91180	-2.8	5.96	4.11	0.48088	.	0.065529	0.64402	D	0.000010	D	0.91536	0.7327	M	0.85630	2.765	0.80722	D	1	P	0.51537	0.946	P	0.51615	0.675	D	0.91952	0.5572	10	0.87932	D	0	-18.375	12.679	0.56912	0.0:0.867:0.0:0.133	.	865	Q12882	DPYD_HUMAN	F	865	ENSP00000359211:V865F	ENSP00000359211:V865F	V	-	1	0	DPYD	97431242	0.995000	0.38212	0.871000	0.34182	0.803000	0.45373	2.510000	0.45468	0.864000	0.35578	0.650000	0.86243	GTT		0.433	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		10	35	1	0	3.07112e-06	0.000978	4.08734e-06	10	35				
DPYD	1806	broad.mit.edu	37	1	98015157	98015157	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:98015157C>T	ENST00000370192.3	-	12	1583	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	495					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.D495N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGCTTTCCATCATTCACCGAT	0.408																																							uc001drv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(1483-1485)GAT>AAT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						185.0	154.0	164.0					1																	98015157		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98015157C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1483G>A	1.37:g.98015157C>T	ENSP00000359211:p.Asp495Asn						p.D495N	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	12	1620	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	495					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1483G>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339538	0.95783	.	.	ENSG00000188641	ENST00000370192	D	0.82526	-1.62	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.92564	0.7638	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92014	0.5620	10	0.62326	D	0.03	-27.6875	20.8598	0.99761	0.0:1.0:0.0:0.0	.	495	Q12882	DPYD_HUMAN	N	495	ENSP00000359211:D495N	ENSP00000359211:D495N	D	-	1	0	DPYD	97787745	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.432000	0.80349	2.937000	0.99478	0.650000	0.86243	GAT		0.408	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		16	61	0	0	0	0.004007	0	16	61				
PALMD	54873	broad.mit.edu	37	1	100155280	100155280	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:100155280T>A	ENST00000263174.4	+	7	1839	c.1464T>A	c.(1462-1464)gcT>gcA	p.A488A	PALMD_ENST00000605497.1_Silent_p.A488A	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	488					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.A488A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GATCAGAAGCTAGTCCTCATG	0.468																																							uc001dsg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1462-1464)GCT>GCA		palmdelphin							73.0	63.0	66.0					1																	100155280		2203	4300	6503	SO:0001819	synonymous_variant	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100155280T>A	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1464T>A	1.37:g.100155280T>A						PALMD_uc001dsf.2_Silent_p.A488A	p.A488A	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	1907	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	488					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Silent	SNP	ENST00000263174.4	37	c.1464T>A	CCDS758.1																																																																																				0.468	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		8	29	0	0	0	0.00308	0	8	29				
COL11A1	1301	broad.mit.edu	37	1	103348790	103348790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:103348790C>A	ENST00000370096.3	-	64	5248	c.4936G>T	c.(4936-4938)Gag>Tag	p.E1646*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E1530*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.E1658*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E1607*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1646	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E1658K(1)|p.E1658*(1)|p.E1646*(1)|p.E1646K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGCAAGTCTCACCACCAGAT	0.378																																							uc001dul.2		NA																	4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(4)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4936-4938)GAG>TAG		alpha 1 type XI collagen isoform A							147.0	142.0	143.0					1																	103348790		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103348790C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4936G>T	1.37:g.103348790C>A	ENSP00000359114:p.Glu1646*					COL11A1_uc001duk.2_Nonsense_Mutation_p.E842*|COL11A1_uc001dum.2_Nonsense_Mutation_p.E1658*|COL11A1_uc001dun.2_Nonsense_Mutation_p.E1607*|COL11A1_uc009weh.2_Nonsense_Mutation_p.E1530*	p.E1646*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	64	5254	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1646			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.4936G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	46	12.617957	0.99683	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4353	0.94792	0.0:1.0:0.0:0.0	.	.	.	.	X	1646;1658;1607;866;1530	.	ENSP00000302551:E1607X	E	-	1	0	COL11A1	103121378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.603000	0.88011	0.591000	0.81541	GAG		0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		13	53	1	0	5.50884e-06	0.001368	7.18716e-06	13	53				
COL11A1	1301	broad.mit.edu	37	1	103444652	103444652	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:103444652A>T	ENST00000370096.3	-	33	2931	c.2619T>A	c.(2617-2619)gcT>gcA	p.A873A	COL11A1_ENST00000512756.1_Silent_p.A757A|COL11A1_ENST00000358392.2_Silent_p.A885A|COL11A1_ENST00000353414.4_Silent_p.A834A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	873	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A885A(1)|p.A873A(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGTTTGCCAGCTACTCCCT	0.403																																							uc001dul.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2617-2619)GCT>GCA		alpha 1 type XI collagen isoform A							48.0	52.0	51.0					1																	103444652		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444652A>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2619T>A	1.37:g.103444652A>T						COL11A1_uc001duk.2_Silent_p.A69A|COL11A1_uc001dum.2_Silent_p.A885A|COL11A1_uc001dun.2_Silent_p.A834A|COL11A1_uc009weh.2_Silent_p.A757A	p.A873A	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	33	2937	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	873			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.2619T>A	CCDS778.1																																																																																				0.403	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	23	0	0	0	0.000602	0	4	23				
AMY1C	278	broad.mit.edu	37	1	104297234	104297234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:104297234G>A	ENST00000370079.3	+	6	1056	c.992G>A	c.(991-993)tGg>tAg	p.W331*		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	331					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.W331*(1)		lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CTTACCTTCTGGGATGCTAGG	0.388																																						Pancreas(131;743 2392 43382 44986)	uc001duy.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(991-993)TGG>TAG		salivary amylase alpha 1A precursor							246.0	248.0	248.0					1																	104297234		2191	4254	6445	SO:0001587	stop_gained	276				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding	g.chr1:104297234G>A		CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"""amylase, alpha 1C; salivary"""	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.992G>A	1.37:g.104297234G>A	ENSP00000359096:p.Trp331*					AMY1A_uc001duz.2_Nonsense_Mutation_p.W331*	p.W331*	NM_001008221	NP_001008222	P04745	AMY1_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	7	1206	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	331					A6NJS5|A8K8H6|Q13763|Q5T083	Nonsense_Mutation	SNP	ENST00000370079.3	37	c.992G>A	CCDS30784.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683309	0.47991	.	.	ENSG00000187733	ENST00000370079	.	.	.	2.23	1.22	0.21188	.	0.249986	0.43747	D	0.000524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	8.5426	0.33402	0.0:0.0:0.5847:0.4153	.	.	.	.	X	331	.	ENSP00000359096:W331X	W	+	2	0	AMY1C	104098757	1.000000	0.71417	0.988000	0.46212	0.125000	0.20455	4.274000	0.58921	0.229000	0.21039	0.184000	0.17185	TGG		0.388	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030375.1	NM_001008219		33	271	0	0	0	0.002522	0	33	271				
VAV3	10451	broad.mit.edu	37	1	108307697	108307697	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:108307697C>A	ENST00000370056.4	-	9	1196		c.e9+1		VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.?(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TAAATAGGCACCTCTAATTTC	0.338																																							uc001dvk.1		NA																	1	Unknown(1)		lung(1)	ovary(5)|lung(2)|breast(2)	9						c.e9+1		vav 3 guanine nucleotide exchange factor isoform							66.0	64.0	65.0					1																	108307697		2203	4300	6503	SO:0001630	splice_region_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108307697C>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.921+1G>T	1.37:g.108307697C>A						VAV3_uc010ouw.1_Splice_Site_p.E307_splice|VAV3_uc001dvl.1_Splice_Site_p.E131_splice|VAV3_uc010oux.1_Splice_Site_p.E307_splice	p.E307_splice	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	9	975	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)						B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	ENST00000370056.4	37	c.921_splice	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212773	0.79352	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000490388;ENST00000371846	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7133	0.96105	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108109220	1.000000	0.71417	0.998000	0.56505	0.854000	0.48673	7.354000	0.79424	2.659000	0.90383	0.650000	0.86243	.		0.338	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Intron	4	36	1	0	0.00909568	0.009096	0.00969496	4	36				
KCNA10	3744	broad.mit.edu	37	1	111059903	111059903	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:111059903C>A	ENST00000369771.2	-	1	1894	c.1507G>T	c.(1507-1509)Ggc>Tgc	p.G503C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	503					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.G503C(1)|p.G503I(1)|p.G503S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GTGGAACAGCCACCATTGGTC	0.468																																							uc001dzt.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|large_intestine(1)	4						c.(1507-1509)GGC>TGC		potassium voltage-gated channel, shaker-related							157.0	151.0	153.0					1																	111059903		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111059903C>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1507G>T	1.37:g.111059903C>A	ENSP00000358786:p.Gly503Cys						p.G503C	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1895	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	503						Missense_Mutation	SNP	ENST00000369771.2	37	c.1507G>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286686	0.23478	.	.	ENSG00000143105	ENST00000369771	D	0.96856	-4.15	5.78	2.35	0.29111	.	1.010200	0.07931	N	0.977538	D	0.85660	0.5748	L	0.36672	1.1	0.24648	N	0.99354	P	0.38167	0.621	B	0.31245	0.126	T	0.80067	-0.1537	10	0.62326	D	0.03	.	4.3715	0.11249	0.1481:0.5441:0.0:0.3078	.	503	Q16322	KCA10_HUMAN	C	503	ENSP00000358786:G503C	ENSP00000358786:G503C	G	-	1	0	KCNA10	110861426	0.053000	0.20554	0.265000	0.24526	0.993000	0.82548	0.473000	0.22132	0.155000	0.19261	0.561000	0.74099	GGC		0.468	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		7	41	1	0	0.000157383	0.00308	0.000187214	7	41				
ADORA3	140	broad.mit.edu	37	1	112042824	112042824	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:112042824A>G	ENST00000241356.4	-	2	1110	c.705T>C	c.(703-705)gtT>gtC	p.V235V	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	235					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.V235V(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ACAAGAAAAGAACCAGAAACA	0.433																																							uc001ebh.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(703-705)GTT>GTC		adenosine A3 receptor isoform 2	Adenosine(DB00640)|Aminophylline(DB01223)						132.0	130.0	131.0					1																	112042824		2203	4300	6503	SO:0001819	synonymous_variant	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112042824A>G	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.705T>C	1.37:g.112042824A>G						ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Intron	p.V235V	NM_000677	NP_000668	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	1472	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	235			Helical; Name=6; (By similarity).		A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000241356.4	37	c.705T>C	CCDS839.1																																																																																				0.433	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		9	28	0	0	0	0.004482	0	9	28				
IGSF3	3321	broad.mit.edu	37	1	117122231	117122231	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:117122231A>G	ENST00000369486.3	-	10	3882	c.3117T>C	c.(3115-3117)gaT>gaC	p.D1039D	IGSF3_ENST00000369483.1_Silent_p.D1059D|IGSF3_ENST00000318837.6_Silent_p.D1059D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1039	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D1059D(1)|p.D1039D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CAAAGACAGCATCTGGGCCCA	0.652																																							uc001egr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(3115-3117)GAT>GAC		immunoglobulin superfamily, member 3 isoform 2							39.0	39.0	39.0					1																	117122231		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117122231A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3117T>C	1.37:g.117122231A>G						IGSF3_uc001egq.1_Silent_p.D1059D	p.D1039D	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	10	3822	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1039			Ig-like C2-type 8.|Extracellular (Potential).		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.3117T>C	CCDS30813.1																																																																																				0.652	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		5	17	0	0	0	0.000602	0	5	17				
HSD3B2	3284	broad.mit.edu	37	1	119965140	119965140	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:119965140A>G	ENST00000543831.1	+	4	1265	c.1016A>G	c.(1015-1017)tAt>tGt	p.Y339C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y339C	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	339					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.Y339C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GATCTGGCGTATAAGCCACTC	0.512																																							uc001ehs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1015-1017)TAT>TGT		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						70.0	65.0	67.0					1																	119965140		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119965140A>G	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.1016A>G	1.37:g.119965140A>G	ENSP00000445122:p.Tyr339Cys					HSD3B2_uc001eht.2_Missense_Mutation_p.Y339C|HSD3B2_uc001ehu.2_Intron	p.Y339C	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	1789	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	339					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.1016A>G	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	17.39	3.376586	0.61735	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.89485	-2.52;-2.52	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96278	0.9204	9	.	.	.	-18.402	12.6988	0.57020	1.0:0.0:0.0:0.0	.	339	P26439	3BHS2_HUMAN	C	339	ENSP00000445122:Y339C;ENSP00000358424:Y339C	.	Y	+	2	0	HSD3B2	119766663	1.000000	0.71417	0.172000	0.22920	0.790000	0.44656	8.741000	0.91583	1.618000	0.50286	0.248000	0.18094	TAT		0.512	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		6	26	0	0	0	0.00308	0	6	26				
NBPF8	728841	broad.mit.edu	37	1	144220792	144220792	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:144220792G>T	ENST00000369373.5	+	2	59	c.59G>T	c.(58-60)aGc>aTc	p.S20I				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	660						cytoplasm (GO:0005737)											TCCAGGCTCAGCAGGGAGCTG	0.458																																							uc010oxr.1		NA																	0					0						c.(2164-2166)AGC>ATC		hypothetical protein LOC400818																																				SO:0001583	missense	400818					cytoplasm		g.chr1:144220792G>T	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.59G>T	1.37:g.144220792G>T	ENSP00000358380:p.Ser20Ile					NBPF9_uc010oxn.1_Missense_Mutation_p.S593I|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.S510I|NBPF9_uc001ekg.1_Missense_Mutation_p.S22I|NBPF9_uc001ekk.1_Missense_Mutation_p.S266I|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.S22I|uc010oxz.1_Missense_Mutation_p.S510I	p.S722I	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			19	2169	+			695			NBPF 5.			Missense_Mutation	SNP	ENST00000369373.5	37	c.2165G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.458|9.458	1.092269|1.092269	0.20471|0.20471	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369365|ENST00000369373	.|T	.|0.11712	.|2.75	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.21841	.|0.0526	.|.	.|.	.|.	.|.	.|.	.|.	.|P;D;.;D;D	.|0.89917	.|0.818;0.98;.;1.0;0.999	.|P;P;.;D;D	.|0.91635	.|0.727;0.833;.;0.999;0.996	.|T	.|0.03993	.|-1.0986	.|4	.|0.72032	.|D	.|0.01	.|.	.|.	.|.	.|.	.|.	.|426;22;593;368;435	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	S|I	3571|20	.|ENSP00000358380:S20I	.|ENSP00000358380:S20I	A|S	+|+	1|2	0|0	RP3-377D14.1|RP3-377D14.1	142932149|142932149	0.995000|0.995000	0.38212|0.38212	.|.	.|.	.|.	.|.	0.901000|0.901000	0.28445|0.28445	.|.	.|.	.|.	.|.	GCA|AGC		0.458	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				17	226	1	0	6.94344e-10	0.006122	1.09058e-09	17	226				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																							uc001end.3		NA																	4	Substitution - coding silent(4)		prostate(3)|kidney(1)		0						c.(10558-10560)AAA>AAG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.K3520K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10595	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10560A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	102	0	0	0	0.009096	0	4	102				
TCHH	7062	broad.mit.edu	37	1	152082419	152082419	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152082419G>C	ENST00000368804.1	-	2	3273	c.3274C>G	c.(3274-3276)Cag>Gag	p.Q1092E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1092	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.Q1092E(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCAGCAGctgctcttcctcc	0.617																																							uc001ezp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3274-3276)CAG>GAG		trichohyalin							92.0	96.0	95.0					1																	152082419		1977	4149	6126	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082419G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3274C>G	1.37:g.152082419G>C	ENSP00000357794:p.Gln1092Glu					TCHH_uc009wne.1_Missense_Mutation_p.Q1092E	p.Q1092E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3274	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1092			10 X 30 AA tandem repeats.|4-7.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3274C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366044	0.41902	.	.	ENSG00000159450	ENST00000368804	T	0.04706	3.57	3.1	2.17	0.27698	.	.	.	.	.	T	0.01976	0.0062	L	0.32530	0.975	0.22842	N	0.998668	D	0.61697	0.99	P	0.56648	0.803	T	0.11084	-1.0602	9	0.02654	T	1	-2.4727	7.9478	0.29998	0.1293:0.0:0.8707:0.0	.	1092	Q07283	TRHY_HUMAN	E	1092	ENSP00000357794:Q1092E	ENSP00000357794:Q1092E	Q	-	1	0	TCHH	150349043	0.000000	0.05858	0.849000	0.33467	0.607000	0.37147	-0.897000	0.04110	0.511000	0.28236	0.462000	0.41574	CAG		0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		20	101	0	0	0	0.008871	0	20	101				
HRNR	388697	broad.mit.edu	37	1	152188223	152188223	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152188223G>C	ENST00000368801.2	-	3	5957	c.5882C>G	c.(5881-5883)tCt>tGt	p.S1961C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1961					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1961C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGCTGGAAGACTGCCCAGA	0.617																																							uc001ezt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(5881-5883)TCT>TGT		hornerin							339.0	572.0	494.0					1																	152188223		2181	4291	6472	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188223G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5882C>G	1.37:g.152188223G>C	ENSP00000357791:p.Ser1961Cys						p.S1961C	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5958	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1961			22.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5882C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	5.445	0.267296	0.10294	.	.	ENSG00000197915	ENST00000368801	T	0.03004	4.08	3.39	1.43	0.22495	.	.	.	.	.	T	0.04543	0.0124	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.32981	-0.9886	9	0.54805	T	0.06	.	7.7772	0.29043	0.2125:0.0:0.7874:0.0	.	1961	Q86YZ3	HORN_HUMAN	C	1961	ENSP00000357791:S1961C	ENSP00000357791:S1961C	S	-	2	0	HRNR	150454847	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	0.793000	0.26944	0.243000	0.21327	0.556000	0.70494	TCT		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		15	745	0	0	0	0.007413	0	15	745				
HRNR	388697	broad.mit.edu	37	1	152192704	152192704	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152192704G>T	ENST00000368801.2	-	3	1476	c.1401C>A	c.(1399-1401)caC>caA	p.H467Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	467					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.H467Q(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGACTCGTGGTGACCAAAGC	0.572																																							uc001ezt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1399-1401)CAC>CAA		hornerin							216.0	212.0	214.0					1																	152192704		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192704G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1401C>A	1.37:g.152192704G>T	ENSP00000357791:p.His467Gln						p.H467Q	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1477	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		467					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1401C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	g	0.198	-1.047075	0.01997	.	.	ENSG00000197915	ENST00000368801	T	0.01388	4.95	2.69	-5.37	0.02681	.	.	.	.	.	T	0.00210	0.0006	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41305	-0.9516	9	0.09338	T	0.73	.	10.2041	0.43103	0.0:0.1063:0.6996:0.1941	.	467	Q86YZ3	HORN_HUMAN	Q	467	ENSP00000357791:H467Q	ENSP00000357791:H467Q	H	-	3	2	HRNR	150459328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.061000	0.01391	-3.548000	0.00143	-2.506000	0.00189	CAC		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		31	155	1	0	6.00712e-18	0.002445	1.09057e-17	31	155				
FLG	2312	broad.mit.edu	37	1	152279701	152279701	+	Nonsense_Mutation	SNP	G	G	T	rs121909626		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152279701G>T	ENST00000368799.1	-	3	7696	c.7661C>A	c.(7660-7662)tCa>tAa	p.S2554*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2554	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2554*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCCCCTCTGATTGTCCCTG	0.597									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	GRCh37	CM071768	FLG	M	rs121909626	c.(7660-7662)TCA>TAA		filaggrin							190.0	204.0	199.0					1																	152279701		2200	4300	6500	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279701G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7661C>A	1.37:g.152279701G>T	ENSP00000357789:p.Ser2554*						p.S2554*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7697	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2554			Ser-rich.|Filaggrin 15.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.7661C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	44	11.262951	0.99538	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.02	-4.04	0.04010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.8363	0.01140	0.1476:0.193:0.2733:0.3861	.	.	.	.	X	2554	.	ENSP00000357789:S2554X	S	-	2	0	FLG	150546325	0.560000	0.26570	0.000000	0.03702	0.005000	0.04900	0.711000	0.25764	-0.994000	0.03463	0.306000	0.20318	TCA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		34	210	1	0	8.73648e-17	0.004289	1.56077e-16	34	210				
FLG2	388698	broad.mit.edu	37	1	152328896	152328896	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152328896G>C	ENST00000388718.5	-	3	1438	c.1366C>G	c.(1366-1368)Cat>Gat	p.H456D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	456	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H456D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGACTCATGCTGGCCACAA	0.488																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(1366-1368)CAT>GAT		filaggrin family member 2							186.0	179.0	181.0					1																	152328896		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328896G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1366C>G	1.37:g.152328896G>C	ENSP00000373370:p.His456Asp					uc001ezv.2_Intron	p.H456D	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1439	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		456			Filaggrin 2.|Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1366C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.086	0.571166	0.13623	.	.	ENSG00000143520	ENST00000388718	T	0.26518	1.73	3.24	1.1	0.20463	.	.	.	.	.	T	0.10465	0.0256	L	0.46157	1.445	0.09310	N	1	D	0.59357	0.985	P	0.50270	0.636	T	0.15809	-1.0424	9	0.12766	T	0.61	.	6.602	0.22705	0.1598:0.16:0.6802:0.0	.	456	Q5D862	FILA2_HUMAN	D	456	ENSP00000373370:H456D	ENSP00000373370:H456D	H	-	1	0	FLG2	150595520	0.078000	0.21339	0.000000	0.03702	0.016000	0.09150	0.774000	0.26675	-0.109000	0.12044	-1.267000	0.01435	CAT		0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		33	106	0	0	0	0.002836	0	33	106				
CRNN	49860	broad.mit.edu	37	1	152382557	152382557	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152382557C>T	ENST00000271835.3	-	3	1063	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	334	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.G334D(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTCCTGCCTTGACCGTG	0.592																																							uc001ezx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1000-1002)GGC>GAC		cornulin							234.0	206.0	215.0					1																	152382557		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382557C>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1001G>A	1.37:g.152382557C>T	ENSP00000271835:p.Gly334Asp						p.G334D	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1075	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		334			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1001G>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355179	0.01256	.	.	ENSG00000143536	ENST00000271835	T	0.04360	3.64	4.61	0.982	0.19762	.	0.860398	0.10200	N	0.703486	T	0.00440	0.0014	N	0.03983	-0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45804	-0.9236	10	0.05833	T	0.94	.	2.8893	0.05671	0.1839:0.206:0.0:0.6101	.	334	Q9UBG3	CRNN_HUMAN	D	334	ENSP00000271835:G334D	ENSP00000271835:G334D	G	-	2	0	CRNN	150649181	0.002000	0.14202	0.006000	0.13384	0.014000	0.08584	0.801000	0.27055	-0.000000	0.14550	-0.498000	0.04607	GGC		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		24	163	0	0	0	0.003954	0	24	163				
LCE2A	353139	broad.mit.edu	37	1	152671565	152671565	+	Missense_Mutation	SNP	G	G	C	rs61812673		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152671565G>C	ENST00000368779.1	+	2	239	c.188G>C	c.(187-189)gGg>gCg	p.G63A		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	63	Cys-rich.				keratinization (GO:0031424)			p.G63A(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGCTCTGGGGGTGGCGGC	0.682																																							uc001faj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(187-189)GGG>GCG		late cornified envelope 2A							37.0	48.0	44.0					1																	152671565		2202	4296	6498	SO:0001583	missense	353139				keratinization			g.chr1:152671565G>C		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.188G>C	1.37:g.152671565G>C	ENSP00000357768:p.Gly63Ala						p.G63A	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	239	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		63			Cys-rich.		A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	37	c.188G>C	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	G	6.747	0.506613	0.12883	.	.	ENSG00000187173	ENST00000368779	T	0.03663	3.85	4.01	4.01	0.46588	.	.	.	.	.	T	0.10551	0.0258	M	0.82323	2.585	0.25798	N	0.984542	D	0.76494	0.999	D	0.85130	0.997	T	0.03443	-1.1036	9	0.87932	D	0	.	11.5856	0.50916	0.0:0.0:1.0:0.0	.	63	Q5TA79	LCE2A_HUMAN	A	63	ENSP00000357768:G63A	ENSP00000357768:G63A	G	+	2	0	LCE2A	150938189	0.998000	0.40836	0.939000	0.37840	0.211000	0.24417	1.405000	0.34635	1.764000	0.52075	0.557000	0.71058	GGG		0.682	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		17	73	0	0	0	0.00499	0	17	73				
CRTC2	200186	broad.mit.edu	37	1	153924738	153924738	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:153924738G>A	ENST00000368633.1	-	10	880	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	251					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.N251N(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGGAAAGATGCTAGGGGAAG	0.547																																							uc010ped.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(751-753)AAC>AAT		CREB regulated transcription coactivator 2							57.0	62.0	60.0					1																	153924738		2203	4300	6503	SO:0001630	splice_region_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924738G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.753-1C>T	1.37:g.153924738G>A						CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR	p.N251N	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	823	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		251					Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.753C>T	CCDS30875.1																																																																																				0.547	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715	Silent	15	23	0	0	0	0.00499	0	15	23				
AQP10	89872	broad.mit.edu	37	1	154296832	154296832	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:154296832A>T	ENST00000324978.3	+	6	822	c.782A>T	c.(781-783)cAg>cTg	p.Q261L	AQP10_ENST00000484864.1_3'UTR|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	261					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Q261L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCACTTACCAGCTGTTGGTG	0.602											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001feu.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(781-783)CAG>CTG		aquaporin 10							53.0	54.0	54.0					1																	154296832		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154296832A>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.782A>T	1.37:g.154296832A>T	ENSP00000318355:p.Gln261Leu		OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762	AQP10_uc001fev.2_3'UTR|ATP8B2_uc001few.2_5'Flank	p.Q261L	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	822	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		261			Extracellular (Potential).		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.782A>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	A	7.313	0.615362	0.14129	.	.	ENSG00000143595	ENST00000324978	T	0.11169	2.8	4.46	4.46	0.54185	Aquaporin-like (2);	0.278179	0.34245	N	0.004131	T	0.01800	0.0057	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38436	-0.9661	10	0.09084	T	0.74	-2.3148	13.0459	0.58925	1.0:0.0:0.0:0.0	.	261	Q96PS8	AQP10_HUMAN	L	261	ENSP00000318355:Q261L	ENSP00000318355:Q261L	Q	+	2	0	AQP10	152563456	0.011000	0.17503	0.099000	0.21106	0.957000	0.61999	1.908000	0.39907	2.030000	0.59900	0.454000	0.30748	CAG		0.602	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		16	66	0	0	0	0.003163	0	16	66				
KCNN3	3782	broad.mit.edu	37	1	154744567	154744567	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:154744567G>T	ENST00000271915.4	-	3	1647	c.1332C>A	c.(1330-1332)aaC>aaA	p.N444K	KCNN3_ENST00000361147.4_Missense_Mutation_p.N139K|KCNN3_ENST00000358505.2_Missense_Mutation_p.N131K	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	449					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.N139K(1)|p.N444K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGTGTTGAAGTTGATCTTGT	0.577																																							uc001ffp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1330-1332)AAC>AAA		small conductance calcium-activated potassium							142.0	106.0	118.0					1																	154744567		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154744567G>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1332C>A	1.37:g.154744567G>T	ENSP00000271915:p.Asn444Lys					KCNN3_uc001ffo.2_Missense_Mutation_p.N139K|KCNN3_uc009wox.1_Missense_Mutation_p.N444K	p.N444K	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		3	1646	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		449					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1332C>A	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142882	0.37825	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98400	-4.91;-3.76;-4.91	4.66	3.75	0.43078	.	0.000000	0.64402	D	0.000012	D	0.92658	0.7667	L	0.33485	1.01	0.49915	D	0.999837	P;B;B	0.43392	0.805;0.295;0.033	B;B;B	0.34722	0.188;0.063;0.049	D	0.92606	0.6095	10	0.54805	T	0.06	-15.904	12.5524	0.56233	0.0816:0.0:0.9184:0.0	.	450;449;139	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	K	139;444;131	ENSP00000354764:N139K;ENSP00000271915:N444K;ENSP00000351295:N131K	ENSP00000271915:N444K	N	-	3	2	KCNN3	153011191	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.023000	0.49666	1.186000	0.42985	0.561000	0.74099	AAC		0.577	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		12	53	1	0	5.50884e-06	0.001368	7.18716e-06	12	53				
RHBG	57127	broad.mit.edu	37	1	156354617	156354617	+	3'UTR	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:156354617G>T	ENST00000368249.1	+	0	1396				RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000400992.2_3'UTR|RHBG_ENST00000368246.2_Nonsense_Mutation_p.E452*|RHBG_ENST00000255013.3_3'UTR	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.E452*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGGGTGGAGGAGGCAGACAC	0.577											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010pho.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1357-1359)GAG>TAG		Rhesus blood group, B glycoprotein							46.0	57.0	53.0					1																	156354617		2033	4175	6208	SO:0001624	3_prime_UTR_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156354617G>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.*32G>T	1.37:g.156354617G>T			OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1777	RHBG_uc001fos.2_3'UTR|RHBG_uc009wrz.2_3'UTR|RHBG_uc001for.2_3'UTR	p.E453*	NM_020407	NP_065140	Q9H310	RHBG_HUMAN			11	1395	+	Hepatocellular(266;0.158)		Error:Variant_position_missing_in_Q9H310_after_alignment					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Nonsense_Mutation	SNP	ENST00000368249.1	37	c.1357G>T		.	.	.	.	.	.	.	.	.	.	G	17.21	3.331685	0.60853	.	.	ENSG00000132677	ENST00000368246	.	.	.	5.03	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.30129	N	0.805016	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-11.9086	11.1831	0.48640	0.0:0.1851:0.8148:0.0	.	.	.	.	X	452	.	ENSP00000357229:E452X	E	+	1	0	RHBG	154621241	0.986000	0.35501	0.019000	0.16419	0.024000	0.10985	2.729000	0.47327	1.313000	0.45069	0.561000	0.74099	GAG		0.577	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		5	16	1	0	3.59834e-05	0.001168	4.49329e-05	5	16				
NES	10763	broad.mit.edu	37	1	156642662	156642662	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:156642662C>A	ENST00000368223.3	-	4	1450	c.1318G>T	c.(1318-1320)Gtc>Ttc	p.V440F		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	440	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.V440F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGGCAGGACGCTGGCAGGA	0.667																																							uc001fpq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1318-1320)GTC>TTC		nestin							39.0	41.0	40.0					1																	156642662		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642662C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1318G>T	1.37:g.156642662C>A	ENSP00000357206:p.Val440Phe						p.V440F	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1451	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		440			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1318G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967599	0.53507	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.87491	-2.26	5.17	-8.52	0.00920	.	0.945344	0.08576	N	0.925299	T	0.77184	0.4093	L	0.56769	1.78	0.09310	N	1	D	0.53619	0.961	P	0.52159	0.691	T	0.74259	-0.3723	10	0.87932	D	0	.	6.5021	0.22174	0.0:0.3813:0.2308:0.3878	.	440	P48681	NEST_HUMAN	F	440	ENSP00000357206:V440F	ENSP00000255024:V440F	V	-	1	0	NES	154909286	0.000000	0.05858	0.003000	0.11579	0.617000	0.37484	-4.353000	0.00248	-1.562000	0.01682	0.467000	0.42956	GTC		0.667	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		9	59	1	0	1.58986e-06	0.008291	2.14735e-06	9	59				
FCRL5	83416	broad.mit.edu	37	1	157497686	157497686	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:157497686C>A	ENST00000361835.3	-	9	1839		c.e9-1		FCRL5_ENST00000356953.4_Splice_Site|FCRL5_ENST00000368191.3_Splice_Site|FCRL5_ENST00000368190.3_Splice_Site	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5						negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.?(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GACACTGGAACTGAGAGAGAA	0.507																																							uc001fqu.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.e9-1		Fc receptor-like 5							42.0	46.0	45.0					1																	157497686		2203	4299	6502	SO:0001630	splice_region_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157497686C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1682-1G>T	1.37:g.157497686C>A						FCRL5_uc009wsm.2_Splice_Site_p.V561_splice|FCRL5_uc010phv.1_Splice_Site_p.V561_splice|FCRL5_uc010phw.1_Splice_Site_p.V476_splice	p.V561_splice	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			9	1840	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)						A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Splice_Site	SNP	ENST00000361835.3	37	c.1682_splice	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287105	0.40494	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	.	.	.	2.97	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6926	0.40139	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL5	155764310	1.000000	0.71417	0.890000	0.34922	0.873000	0.50193	3.175000	0.50855	1.981000	0.57761	0.650000	0.86243	.		0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	Intron	12	56	1	0	0.000219431	0.00245	0.000260597	12	56				
KIRREL	55243	broad.mit.edu	37	1	158064602	158064602	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158064602G>T	ENST00000359209.6	+	15	2033	c.1966G>T	c.(1966-1968)Ggc>Tgc	p.G656C	KIRREL_ENST00000416935.2_Missense_Mutation_p.G556C|KIRREL_ENST00000368173.3_Missense_Mutation_p.G672C|KIRREL_ENST00000392272.2_Missense_Mutation_p.G553C|KIRREL_ENST00000368172.1_Missense_Mutation_p.G470C|KIRREL_ENST00000360089.4_Missense_Mutation_p.G492C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	656					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.G656C(1)|p.G492C(1)|p.G672C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTATAGCCGGGGCCCTGCCTC	0.657																																							uc001frn.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1966-1968)GGC>TGC		kin of IRRE like precursor							49.0	51.0	50.0					1																	158064602		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064602G>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1966G>T	1.37:g.158064602G>T	ENSP00000352138:p.Gly656Cys					KIRREL_uc010pib.1_Missense_Mutation_p.G556C|KIRREL_uc009wsq.2_Missense_Mutation_p.G492C|KIRREL_uc001fro.3_Missense_Mutation_p.G470C|uc001frp.2_5'Flank	p.G656C	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			15	2370	+	all_hematologic(112;0.0378)		656			Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1966G>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631262	0.67015	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71579	0.39;-0.58;0.03;-0.21;-0.13;0.23	5.04	5.04	0.67666	.	0.174626	0.27513	N	0.019032	T	0.53562	0.1804	L	0.40543	1.245	0.25369	N	0.988718	P;P;P;D	0.54047	0.856;0.856;0.698;0.964	B;B;B;B	0.43916	0.219;0.319;0.326;0.436	T	0.55231	-0.8173	10	0.54805	T	0.06	-22.2088	15.8758	0.79159	0.0:0.0:1.0:0.0	.	556;492;470;656	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	492;672;553;656;556;470	ENSP00000353202:G492C;ENSP00000357155:G672C;ENSP00000376098:G553C;ENSP00000352138:G656C;ENSP00000389674:G556C;ENSP00000357154:G470C	ENSP00000352138:G656C	G	+	1	0	KIRREL	156331226	0.998000	0.40836	0.980000	0.43619	0.932000	0.56968	4.551000	0.60740	2.325000	0.78763	0.561000	0.74099	GGC		0.657	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		17	29	1	0	3.32936e-07	0.006122	4.67008e-07	17	29				
CD1D	912	broad.mit.edu	37	1	158152753	158152753	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158152753A>T	ENST00000368171.3	+	5	1192	c.693A>T	c.(691-693)ccA>ccT	p.P231P		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	231	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.P231P(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GATTCTACCCAAAGCCTGTAT	0.612																																							uc001frr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(691-693)CCA>CCT		CD1D antigen precursor							105.0	100.0	102.0					1																	158152753		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152753A>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.693A>T	1.37:g.158152753A>T						CD1D_uc009wss.2_Intron	p.P231P	NM_001766	NP_001757	P15813	CD1D_HUMAN			5	1192	+	all_hematologic(112;0.0378)		231			Ig-like.|Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.693A>T	CCDS1173.1																																																																																				0.612	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		13	94	0	0	0	0.001368	0	13	94				
CD1C	911	broad.mit.edu	37	1	158261151	158261151	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158261151C>G	ENST00000368170.3	+	2	568	c.289C>G	c.(289-291)Cgg>Ggg	p.R97G		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	97					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.R97G(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGGATTAACTCGGGAGATTCA	0.368																																							uc001fru.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(289-291)CGG>GGG		CD1C antigen precursor							98.0	96.0	97.0					1																	158261151		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158261151C>G	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.289C>G	1.37:g.158261151C>G	ENSP00000357152:p.Arg97Gly					CD1C_uc001frv.2_5'Flank	p.R97G	NM_001765	NP_001756	P29017	CD1C_HUMAN			2	581	+	all_hematologic(112;0.0378)		97			Extracellular (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.289C>G	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.671|8.671	0.902845|0.902845	0.17760|0.17760	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170|ENST00000443761	T|.	0.17691|.	2.26|.	3.52|3.52	-0.873|-0.873	0.10635|0.10635	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.350910|.	0.05551|.	N|.	0.567474|.	T|T	0.27169|0.27169	0.0666|0.0666	M|M	0.77103|0.77103	2.36|2.36	0.09310|0.09310	N|N	1|1	P|.	0.51351|.	0.944|.	P|.	0.45099|.	0.469|.	T|T	0.36114|0.36114	-0.9761|-0.9761	10|5	0.59425|.	D|.	0.04|.	.|.	3.4573|3.4573	0.07521|0.07521	0.0:0.41:0.2003:0.3897|0.0:0.41:0.2003:0.3897	.|.	97|.	P29017|.	CD1C_HUMAN|.	G|W	97|31	ENSP00000357152:R97G|.	ENSP00000357151:R97G|.	R|S	+|+	1|2	2|0	CD1C|CD1C	156527775|156527775	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.876000|-0.876000	0.04201|0.04201	-0.144000|-0.144000	0.11314|0.11314	-0.156000|-0.156000	0.13503|0.13503	CGG|TCG		0.368	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		12	55	0	0	0	0.001368	0	12	55				
CD1C	911	broad.mit.edu	37	1	158262139	158262139	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158262139G>A	ENST00000368170.3	+	3	873	c.594G>A	c.(592-594)atG>atA	p.M198I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	198					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.M198I(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGGGAAGATGTATGTACACA	0.453																																							uc001fru.2		NA																	2	Substitution - Missense(2)	p.M198I(1)	lung(1)|pancreas(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(592-594)ATG>ATA		CD1C antigen precursor							239.0	240.0	240.0					1																	158262139		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262139G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.594G>A	1.37:g.158262139G>A	ENSP00000357152:p.Met198Ile					CD1C_uc001frv.2_Missense_Mutation_p.M1I	p.M198I	NM_001765	NP_001756	P29017	CD1C_HUMAN			3	886	+	all_hematologic(112;0.0378)		198			Extracellular (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.594G>A	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.060|8.060	0.767905|0.767905	0.15983|0.15983	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170;ENST00000454192|ENST00000443761	T|.	0.06294|.	3.32|.	3.36|3.36	-0.751|-0.751	0.11076|0.11076	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.086350|.	0.07222|.	N|.	0.861005|.	T|T	0.19485|0.19485	0.0468|0.0468	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B|.	0.10296|.	0.003;0.002|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.31138|0.31138	-0.9954|-0.9954	10|5	0.87932|.	D|.	0|.	.|.	6.4064|6.4064	0.21666|0.21666	0.4694:0.0:0.5306:0.0|0.4694:0.0:0.5306:0.0	.|.	198;198|.	E9PGC9;P29017|.	.;CD1C_HUMAN|.	I|I	198;198;1|133	ENSP00000357152:M198I|.	ENSP00000357151:M198I|.	M|V	+|+	3|1	0|0	CD1C|CD1C	156528763|156528763	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-1.437000|-1.437000	0.02419|0.02419	-0.131000|-0.131000	0.11578|0.11578	-0.163000|-0.163000	0.13421|0.13421	ATG|GTA		0.453	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		49	265	0	0	0	0.00361	0	49	265				
OR10T2	128360	broad.mit.edu	37	1	158368428	158368428	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158368428T>C	ENST00000334438.1	-	1	828	c.829A>G	c.(829-831)Acc>Gcc	p.T277A		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T277A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACTGTGTAGGTCACTGCCACC	0.473																																							uc010pih.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(829-831)ACC>GCC		olfactory receptor, family 10, subfamily T,							92.0	78.0	82.0					1																	158368428		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368428T>C	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.829A>G	1.37:g.158368428T>C	ENSP00000334115:p.Thr277Ala						p.T277A	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	829	-	all_hematologic(112;0.0378)		277			Helical; Name=7; (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.829A>G	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808721	0.50421	.	.	ENSG00000186306	ENST00000334438	T	0.00076	8.76	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000589	T	0.00039	0.0001	N	0.25890	0.77	0.20873	N	0.999835	P	0.39737	0.685	B	0.42245	0.381	T	0.00061	-1.2161	10	0.36615	T	0.2	.	8.9214	0.35615	0.0:0.0:0.3166:0.6834	.	277	Q8NGX3	O10T2_HUMAN	A	277	ENSP00000334115:T277A	ENSP00000334115:T277A	T	-	1	0	OR10T2	156635052	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.057000	0.14279	1.911000	0.55334	0.533000	0.62120	ACC		0.473	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		7	28	0	0	0	0.00308	0	7	28				
OR10R2	343406	broad.mit.edu	37	1	158450496	158450496	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158450496T>A	ENST00000368152.1	+	1	829	c.829T>A	c.(829-831)Ttc>Atc	p.F277I	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F277I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGTGCTTCCTTCATCTACCT	0.483																																							uc010pik.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(829-831)TTC>ATC		olfactory receptor, family 10, subfamily R,							196.0	162.0	174.0					1																	158450496		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450496T>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.829T>A	1.37:g.158450496T>A	ENSP00000357134:p.Phe277Ile					uc001fso.1_RNA	p.F277I	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	829	+	all_hematologic(112;0.0378)		277			Helical; Name=6; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.829T>A	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	8.667	0.901871	0.17760	.	.	ENSG00000198965	ENST00000368152	T	0.00256	8.42	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.25485	0.75	0.23943	N	0.996395	B	0.12013	0.005	B	0.18263	0.021	T	0.27905	-1.0060	9	0.07644	T	0.81	.	8.4543	0.32890	0.1744:0.0:0.0:0.8256	.	277	Q8NGX6	O10R2_HUMAN	I	277	ENSP00000357134:F277I	ENSP00000357134:F277I	F	+	1	0	OR10R2	156717120	0.000000	0.05858	0.991000	0.47740	0.990000	0.78478	0.186000	0.16978	1.735000	0.51646	0.533000	0.62120	TTC		0.483	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		6	48	0	0	0	0.001168	0	6	48				
OR10Z1	128368	broad.mit.edu	37	1	158576328	158576328	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158576328C>T	ENST00000361284.1	+	1	100	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L34L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTTCCTCTCTCTGTATCTAGT	0.502																																							uc010pio.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(100-102)CTG>TTG		olfactory receptor, family 10, subfamily Z,							200.0	191.0	194.0					1																	158576328		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576328C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.100C>T	1.37:g.158576328C>T							p.L34L	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	100	+	all_hematologic(112;0.0378)		34			Helical; Name=1; (Potential).		Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.100C>T	CCDS30901.1																																																																																				0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		22	122	0	0	0	0.00278	0	22	122				
OR10Z1	128368	broad.mit.edu	37	1	158576605	158576605	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158576605T>C	ENST00000361284.1	+	1	377	c.377T>C	c.(376-378)aTc>aCc	p.I126T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I126T(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TATGTGGCCATCTGTGCTCCA	0.527																																							uc010pio.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(376-378)ATC>ACC		olfactory receptor, family 10, subfamily Z,							102.0	103.0	103.0					1																	158576605		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576605T>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.377T>C	1.37:g.158576605T>C	ENSP00000354707:p.Ile126Thr						p.I126T	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	377	+	all_hematologic(112;0.0378)		126			Cytoplasmic (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.377T>C	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800344	0.70567	.	.	ENSG00000198967	ENST00000361284	T	0.59224	0.28	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000751	T	0.81612	0.4859	H	0.97265	3.97	0.47621	D	0.999471	D	0.89917	1.0	D	0.76575	0.988	D	0.88106	0.2822	10	0.87932	D	0	.	14.4836	0.67599	0.0:0.0:0.0:1.0	.	126	Q8NGY1	O10Z1_HUMAN	T	126	ENSP00000354707:I126T	ENSP00000354707:I126T	I	+	2	0	OR10Z1	156843229	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.809000	0.86057	2.246000	0.74042	0.533000	0.62120	ATC		0.527	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		15	82	0	0	0	0.003163	0	15	82				
SPTA1	6708	broad.mit.edu	37	1	158613118	158613118	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158613118A>T	ENST00000368147.4	-	31	4616	c.4436T>A	c.(4435-4437)cTa>cAa	p.L1479Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1479					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.L1479Q(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)					TGACCTGTCTAGTACACGTTG	0.458																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4435-4437)CTA>CAA		spectrin, alpha, erythrocytic 1							128.0	127.0	127.0					1																	158613118		1943	4148	6091	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.chr1:158613118A>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4436T>A	1.37:g.158613118A>T	ENSP00000357129:p.Leu1479Gln						p.L1479Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			31	4635	-	all_hematologic(112;0.0378)		1479			Spectrin 14.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4436T>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205658	0.79127	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.22	5.22	0.72569	.	0.000000	0.26535	N	0.023840	T	0.63593	0.2524	M	0.84433	2.695	0.51233	D	0.999918	D	0.89917	1.0	D	0.87578	0.998	T	0.65401	-0.6177	10	0.33940	T	0.23	.	14.0973	0.65032	1.0:0.0:0.0:0.0	.	1479	P02549	SPTA1_HUMAN	Q	1479	ENSP00000357130:L1479Q;ENSP00000357129:L1479Q	ENSP00000357129:L1479Q	L	-	2	0	SPTA1	156879742	1.000000	0.71417	0.410000	0.26471	0.961000	0.63080	6.707000	0.74654	2.201000	0.70794	0.533000	0.62120	CTA		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		10	35	0	0	0	0.000978	0	10	35				
SPTA1	6708	broad.mit.edu	37	1	158615169	158615169	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158615169G>C	ENST00000368147.4	-	29	4183	c.4003C>G	c.(4003-4005)Cgt>Ggt	p.R1335G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1335					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.R1335G(2)		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)					ATGTCAGCACGGTGCTCCTGT	0.488																																							uc001fst.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4003-4005)CGT>GGT		spectrin, alpha, erythrocytic 1							62.0	61.0	61.0					1																	158615169		1907	4141	6048	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.chr1:158615169G>C	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.4003C>G	1.37:g.158615169G>C	ENSP00000357129:p.Arg1335Gly						p.R1335G	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4202	-	all_hematologic(112;0.0378)		1335			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4003C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	7.550	0.662563	0.14645	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51071	0.72;0.72	5.06	0.976	0.19727	.	.	.	.	.	T	0.34337	0.0894	L	0.43757	1.38	0.21473	N	0.999676	P	0.45715	0.865	P	0.57425	0.82	T	0.13926	-1.0491	9	0.59425	D	0.04	.	5.1566	0.15038	0.3066:0.0:0.5608:0.1325	.	1335	P02549	SPTA1_HUMAN	G	1335	ENSP00000357130:R1335G;ENSP00000357129:R1335G	ENSP00000357129:R1335G	R	-	1	0	SPTA1	156881793	0.999000	0.42202	0.000000	0.03702	0.087000	0.18053	3.236000	0.51336	0.303000	0.22785	-0.142000	0.14014	CGT		0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		5	43	0	0	0	0.001984	0	5	43				
OR6K3	391114	broad.mit.edu	37	1	158687240	158687240	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158687240A>T	ENST00000368146.1	-	1	713	c.714T>A	c.(712-714)acT>acA	p.T238T	OR6K3_ENST00000368145.1_Silent_p.T222T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T238T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCAATATCACAGTGACAATTC	0.448																																							uc010pip.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(712-714)ACT>ACA		olfactory receptor, family 6, subfamily K,							106.0	97.0	100.0					1																	158687240		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687240A>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.714T>A	1.37:g.158687240A>T							p.T238T	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	714	-	all_hematologic(112;0.0378)		238			Cytoplasmic (Potential).		Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.714T>A																																																																																					0.448	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				16	42	0	0	0	0.003163	0	16	42				
OR6K3	391114	broad.mit.edu	37	1	158687470	158687470	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158687470C>A	ENST00000368146.1	-	1	483	c.484G>T	c.(484-486)Gca>Tca	p.A162S	OR6K3_ENST00000368145.1_Missense_Mutation_p.A146S			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A162S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAGGAACCTGCAGAGAGTTGA	0.512																																							uc010pip.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(484-486)GCA>TCA		olfactory receptor, family 6, subfamily K,							82.0	88.0	86.0					1																	158687470		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687470C>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.484G>T	1.37:g.158687470C>A	ENSP00000357128:p.Ala162Ser						p.A162S	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	484	-	all_hematologic(112;0.0378)		162			Helical; Name=4; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.484G>T		.	.	.	.	.	.	.	.	.	.	C	8.513	0.866948	0.17250	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.01335	5.0;5.0	4.04	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	L	0.41356	1.27	0.09310	N	1	P	0.37276	0.589	B	0.39771	0.309	T	0.52019	-0.8631	9	0.26408	T	0.33	.	7.0753	0.25201	0.0:0.7207:0.1776:0.1017	.	162	Q8NGY3	OR6K3_HUMAN	S	146;162	ENSP00000357127:A146S;ENSP00000357128:A162S	ENSP00000357127:A146S	A	-	1	0	OR6K3	156954094	0.000000	0.05858	0.980000	0.43619	0.022000	0.10575	-1.773000	0.01786	2.226000	0.72624	0.411000	0.27672	GCA		0.512	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				19	68	1	0	8.00594e-06	0.007413	1.04263e-05	19	68				
OR6N1	128372	broad.mit.edu	37	1	158736408	158736408	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158736408C>T	ENST00000335094.2	-	1	84	c.65G>A	c.(64-66)gGt>gAt	p.G22D		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G22D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AATCTGGACACCCTGGAGATG	0.502																																							uc010piq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)GGT>GAT		olfactory receptor, family 6, subfamily N,							67.0	64.0	65.0					1																	158736408		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736408C>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.65G>A	1.37:g.158736408C>T	ENSP00000335535:p.Gly22Asp						p.G22D	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	65	-	all_hematologic(112;0.0378)		22			Extracellular (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.65G>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129319	0.08981	.	.	ENSG00000197403	ENST00000335094	T	0.00421	7.46	5.1	5.1	0.69264	.	0.000000	0.46442	D	0.000296	T	0.00073	0.0002	N	0.04373	-0.215	0.35834	D	0.825519	B	0.12630	0.006	B	0.09377	0.004	T	0.49163	-0.8968	10	0.21540	T	0.41	-9.2574	10.9385	0.47260	0.0:0.9134:0.0:0.0866	.	22	Q8NGY5	OR6N1_HUMAN	D	22	ENSP00000335535:G22D	ENSP00000335535:G22D	G	-	2	0	OR6N1	157003032	0.000000	0.05858	0.984000	0.44739	0.314000	0.28054	-0.049000	0.11924	2.623000	0.88846	0.655000	0.94253	GGT		0.502	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		8	23	0	0	0	0.00308	0	8	23				
MNDA	4332	broad.mit.edu	37	1	158813156	158813156	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158813156C>A	ENST00000368141.4	+	3	614	c.353C>A	c.(352-354)gCa>gAa	p.A118E		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	118					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A118E(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCACCCACCGCAAGAAACAAA	0.448																																							uc001fsz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(352-354)GCA>GAA		myeloid cell nuclear differentiation antigen							61.0	54.0	56.0					1																	158813156		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813156C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.353C>A	1.37:g.158813156C>A	ENSP00000357123:p.Ala118Glu						p.A118E	NM_002432	NP_002423	P41218	MNDA_HUMAN			3	553	+	all_hematologic(112;0.0378)		118						Missense_Mutation	SNP	ENST00000368141.4	37	c.353C>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233927	0.22626	.	.	ENSG00000163563	ENST00000368141	T	0.04809	3.55	2.61	1.64	0.23874	.	.	.	.	.	T	0.01765	0.0056	L	0.50333	1.59	0.09310	N	1	B	0.23442	0.085	B	0.17098	0.017	T	0.42137	-0.9469	9	0.51188	T	0.08	-2.3361	7.181	0.25772	0.0:0.72:0.28:0.0	.	118	P41218	MNDA_HUMAN	E	118	ENSP00000357123:A118E	ENSP00000357123:A118E	A	+	2	0	MNDA	157079780	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.641000	0.24720	0.617000	0.30160	0.563000	0.77884	GCA		0.448	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		8	20	1	0	1.12685e-05	0.004482	1.44938e-05	8	20				
MNDA	4332	broad.mit.edu	37	1	158813815	158813815	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158813815C>A	ENST00000368141.4	+	4	734	c.473C>A	c.(472-474)cCc>cAc	p.P158H		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	158					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P158H(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAGTAAGCCCCCAGGTCCC	0.463																																							uc001fsz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(472-474)CCC>CAC		myeloid cell nuclear differentiation antigen							209.0	176.0	187.0					1																	158813815		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813815C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.473C>A	1.37:g.158813815C>A	ENSP00000357123:p.Pro158His						p.P158H	NM_002432	NP_002423	P41218	MNDA_HUMAN			4	673	+	all_hematologic(112;0.0378)		158						Missense_Mutation	SNP	ENST00000368141.4	37	c.473C>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802359	0.31869	.	.	ENSG00000163563	ENST00000368141	T	0.05025	3.51	2.72	0.808	0.18719	.	0.225336	0.22892	N	0.054361	T	0.06690	0.0171	M	0.68317	2.08	0.09310	N	1	D	0.71674	0.998	P	0.61397	0.888	T	0.13469	-1.0508	10	0.72032	D	0.01	-1.0019	4.6044	0.12371	0.0:0.6848:0.0:0.3152	.	158	P41218	MNDA_HUMAN	H	158	ENSP00000357123:P158H	ENSP00000357123:P158H	P	+	2	0	MNDA	157080439	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.372000	0.07504	0.211000	0.20683	0.563000	0.77884	CCC		0.463	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		20	82	1	0	8.34094e-07	0.008871	1.14354e-06	20	82				
MNDA	4332	broad.mit.edu	37	1	158815621	158815621	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158815621C>A	ENST00000368141.4	+	5	1076	c.815C>A	c.(814-816)tCt>tAt	p.S272Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	272	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S272Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCTGATTACTCTGAATGTAAA	0.338																																							uc001fsz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(814-816)TCT>TAT		myeloid cell nuclear differentiation antigen							76.0	79.0	78.0					1																	158815621		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815621C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.815C>A	1.37:g.158815621C>A	ENSP00000357123:p.Ser272Tyr						p.S272Y	NM_002432	NP_002423	P41218	MNDA_HUMAN			5	1015	+	all_hematologic(112;0.0378)		272			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.815C>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	2.467	-0.322694	0.05350	.	.	ENSG00000163563	ENST00000368141	T	0.13657	2.57	4.28	3.06	0.35304	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	1.070890	0.07376	N	0.886553	T	0.01730	0.0055	N	0.04090	-0.28	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.47018	-0.9149	10	0.20519	T	0.43	1.6177	6.4761	0.22037	0.0:0.1129:0.0:0.8871	.	272	P41218	MNDA_HUMAN	Y	272	ENSP00000357123:S272Y	ENSP00000357123:S272Y	S	+	2	0	MNDA	157082245	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.004000	0.13106	0.769000	0.33313	-0.290000	0.09829	TCT		0.338	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		14	54	1	0	7.93312e-07	0.00245	1.09071e-06	14	54				
OR10J3	441911	broad.mit.edu	37	1	159283942	159283942	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:159283942A>T	ENST00000332217.5	-	1	507	c.508T>A	c.(508-510)Tgt>Agt	p.C170S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C170S(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGGCATCACAGAATGGCAGG	0.502																																							uc010piu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(508-510)TGT>AGT		olfactory receptor, family 10, subfamily J,							71.0	64.0	66.0					1																	159283942		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283942A>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.508T>A	1.37:g.159283942A>T	ENSP00000331789:p.Cys170Ser						p.C170S	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	508	-	all_hematologic(112;0.0429)		170			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.508T>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.725908	0.48833	.	.	ENSG00000196266	ENST00000332217	T	0.00211	8.54	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	M	0.88105	2.93	0.47094	D	0.999311	D	0.76494	0.999	D	0.83275	0.996	T	0.66822	-0.5826	9	0.87932	D	0	.	12.7485	0.57296	1.0:0.0:0.0:0.0	.	170	Q5JRS4	O10J3_HUMAN	S	170	ENSP00000331789:C170S	ENSP00000331789:C170S	C	-	1	0	OR10J3	157550566	0.978000	0.34361	0.957000	0.39632	0.040000	0.13550	4.218000	0.58554	2.093000	0.63338	0.459000	0.35465	TGT		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			9	33	0	0	0	0.006214	0	9	33				
CD244	51744	broad.mit.edu	37	1	160811393	160811393	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:160811393C>A	ENST00000368033.3	-	2	442	c.360G>T	c.(358-360)acG>acT	p.T120T	CD244_ENST00000322302.7_Silent_p.T120T|CD244_ENST00000368032.2_Silent_p.T120T|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Silent_p.T120T			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	120	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T120T(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAACCTGGAACGTGGCTGTCT	0.468																																							uc009wtq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(358-360)ACG>ACT		CD244 natural killer cell receptor 2B4							53.0	54.0	54.0					1																	160811393		2203	4300	6503	SO:0001819	synonymous_variant	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811393C>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.360G>T	1.37:g.160811393C>A						CD244_uc001fxa.2_Silent_p.T120T|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Silent_p.T120T|CD244_uc010pjt.1_RNA	p.T120T	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	538	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		120			Extracellular (Potential).|Ig-like 1.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Silent	SNP	ENST00000368033.3	37	c.360G>T	CCDS53399.1																																																																																				0.468	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		12	20	1	0	6.40141e-05	0.000978	7.85211e-05	12	20				
APOA2	336	broad.mit.edu	37	1	161192794	161192794	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:161192794C>G	ENST00000367990.3	-	3	156	c.99G>C	c.(97-99)ctG>ctC	p.L33L	APOA2_ENST00000468465.1_Intron|APOA2_ENST00000491350.1_Intron|TOMM40L_ENST00000367988.3_5'Flank|APOA2_ENST00000464492.1_Silent_p.L66L|APOA2_ENST00000470459.2_Silent_p.L33L|APOA2_ENST00000463812.1_5'UTR	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	33	O-glycosylated at one site.				acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L33L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACTGAGAAACCAGGCTCTCCA	0.547																																							uc001fzc.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(97-99)CTG>CTC		apolipoprotein A-II preproprotein							124.0	116.0	119.0					1																	161192794		2203	4300	6503	SO:0001819	synonymous_variant	336				cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr1:161192794C>G		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.99G>C	1.37:g.161192794C>G						APOA2_uc001fzb.1_Intron	p.L33L	NM_001643	NP_001634	P02652	APOA2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	157	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		33					B2R524	Silent	SNP	ENST00000367990.3	37	c.99G>C	CCDS1226.1																																																																																				0.547	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		9	72	0	0	0	0.006214	0	9	72				
FCGR2A	2212	broad.mit.edu	37	1	161479613	161479613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:161479613G>A	ENST00000271450.6	+	4	406	c.368G>A	c.(367-369)tGg>tAg	p.W123*	FCGR2A_ENST00000367972.4_Nonsense_Mutation_p.W122*	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	123	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W122*(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTTCAGAATGGCTGGTGCTC	0.468																																							uc001gan.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(367-369)TGG>TAG		Fc fragment of IgG, low affinity IIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						89.0	90.0	90.0					1																	161479613		2203	4300	6503	SO:0001587	stop_gained	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479613G>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.368G>A	1.37:g.161479613G>A	ENSP00000271450:p.Trp123*					FCGR2A_uc001gam.2_Nonsense_Mutation_p.W122*|FCGR2A_uc001gao.2_RNA	p.W123*	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	421	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		123			Extracellular (Potential).|Ig-like C2-type 2.		Q8WUN1|Q8WW64	Nonsense_Mutation	SNP	ENST00000271450.6	37	c.368G>A	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	8.917	0.960067	0.18507	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	.	.	.	2.84	2.84	0.33178	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3742	0.38272	0.0:0.0:1.0:0.0	.	.	.	.	X	122;123	.	ENSP00000271450:W123X	W	+	2	0	FCGR2A	159746237	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	3.686000	0.54685	1.888000	0.54679	0.561000	0.74099	TGG		0.468	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		35	64	0	0	0	0.004289	0	35	64				
FCGR2B	2213	broad.mit.edu	37	1	161641338	161641338	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:161641338C>A	ENST00000358671.5	+	3	371	c.290C>A	c.(289-291)cCc>cAc	p.P97H	RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000428605.2_Missense_Mutation_p.P97H|FCGR2B_ENST00000403078.3_Missense_Mutation_p.P97H|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P90H|FCGR2B_ENST00000367962.4_Missense_Mutation_p.P97H|FCGR2B_ENST00000367961.4_Missense_Mutation_p.P90H|FCGR2B_ENST00000236937.9_Missense_Mutation_p.P97H	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	97	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P97H(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACACGCAGCCCAGCTACAGG	0.577			T	?	ALL																																		uc001gaz.1		NA		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		1	Substitution - Missense(1)		lung(1)		0						c.(289-291)CCC>CAC		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						60.0	62.0	61.0					1																	161641338		2203	4296	6499	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641338C>A	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.290C>A	1.37:g.161641338C>A	ENSP00000351497:p.Pro97His					FCGR2B_uc009wum.1_Missense_Mutation_p.P97H|FCGR2B_uc001gay.1_Missense_Mutation_p.P96H|FCGR2B_uc001gba.1_Missense_Mutation_p.P96H|FCGR2B_uc001gbb.1_Missense_Mutation_p.P97H|FCGR2B_uc009wun.1_Missense_Mutation_p.P90H	p.P97H	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	382	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		97			Ig-like C2-type 1.|Extracellular (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.290C>A	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744304	0.69418	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69	4.53	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.739681	0.12118	N	0.497902	T	0.23846	0.0577	M	0.66939	2.045	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.982;1.0;0.986;0.981;0.983;0.969	T	0.04029	-1.0983	10	0.72032	D	0.01	.	12.7583	0.57347	0.0:1.0:0.0:0.0	.	90;97;97;97;97;97	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	H	97;90;97;97;97;90;97;96	ENSP00000356939:P97H;ENSP00000356937:P90H;ENSP00000386038:P97H;ENSP00000404329:P97H;ENSP00000236937:P97H;ENSP00000356938:P90H;ENSP00000351497:P97H	ENSP00000236937:P97H	P	+	2	0	FCGR2B	159907962	0.004000	0.15560	0.667000	0.29798	0.344000	0.29017	1.519000	0.35888	2.059000	0.61396	0.462000	0.41574	CCC		0.577	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		8	64	1	0	0.000157383	0.00308	0.000187214	8	64				
ATF6	22926	broad.mit.edu	37	1	161736161	161736161	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:161736161C>T	ENST00000367942.3	+	1	78	c.11C>T	c.(10-12)cCg>cTg	p.P4L	RP11-474I16.8_ENST00000431097.2_RNA	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	4	Transcription activation.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P4L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	ATGGGGGAGCCGGCTGGGGTT	0.567																																							uc001gbr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(10-12)CCG>CTG		activating transcription factor 6							55.0	59.0	58.0					1																	161736161		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161736161C>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.11C>T	1.37:g.161736161C>T	ENSP00000356919:p.Pro4Leu					ATF6_uc001gbq.1_Missense_Mutation_p.P4L	p.P4L	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		1	78	+	all_hematologic(112;0.156)		4			Cytoplasmic (Potential).|Transcription activation.		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.11C>T	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152752	0.38021	.	.	ENSG00000118217	ENST00000367942	T	0.13538	2.58	4.52	-1.6	0.08426	.	0.810021	0.10674	N	0.647257	T	0.03915	0.0110	L	0.36672	1.1	0.27532	N	0.951059	B;B	0.23249	0.082;0.024	B;B	0.15052	0.012;0.007	T	0.39961	-0.9588	9	0.72032	D	0.01	-0.3593	10.3046	0.43672	0.1484:0.2692:0.5824:0.0	.	4;5	P18850;Q59H30	ATF6A_HUMAN;.	L	4	ENSP00000356919:P4L	ENSP00000356919:P4L	P	+	2	0	ATF6	160002785	0.005000	0.15991	0.001000	0.08648	0.010000	0.07245	-0.473000	0.06615	-0.057000	0.13199	0.561000	0.74099	CCG		0.567	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		9	30	0	0	0	0.000978	0	9	30				
PBX1	5087	broad.mit.edu	37	1	164789339	164789339	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:164789339C>G	ENST00000420696.2	+	7	1216	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	PBX1_ENST00000540236.1_Missense_Mutation_p.S343C|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.S238C|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.S238C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	343					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S343C(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTCAAACTCTGGAGATTTG	0.488			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																		uc001gct.2		NA		Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|lung(1)|skin(1)	5						c.(1027-1029)TCT>TGT		pre-B-cell leukemia homeobox 1							84.0	84.0	84.0					1																	164789339		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164789339C>G	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1028C>G	1.37:g.164789339C>G	ENSP00000405890:p.Ser343Cys					PBX1_uc010pku.1_Missense_Mutation_p.S343C|PBX1_uc010pkv.1_Missense_Mutation_p.S260C|PBX1_uc001gcs.2_Intron|PBX1_uc010pkw.1_Missense_Mutation_p.S233C	p.S343C	NM_002585	NP_002576	P40424	PBX1_HUMAN			7	1286	+			343					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.1028C>G	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838045	0.91117	.	.	ENSG00000185630	ENST00000420696;ENST00000540236;ENST00000540246	D;D;D	0.90133	-2.51;-2.5;-2.62	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.94205	0.8140	M	0.74881	2.28	.	.	.	D;D;D;D	0.71674	0.996;0.996;0.998;0.996	P;P;D;P	0.66497	0.827;0.827;0.944;0.88	D	0.93263	0.6645	9	0.46703	T	0.11	-6.9532	19.237	0.93864	0.0:1.0:0.0:0.0	.	238;343;343;343	B7Z774;A8K5V0;F5H4U9;P40424	.;.;.;PBX1_HUMAN	C	343;343;238	ENSP00000405890:S343C;ENSP00000439943:S343C;ENSP00000440869:S238C	ENSP00000405890:S343C	S	+	2	0	PBX1	163055963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.640000	0.89533	0.655000	0.94253	TCT		0.488	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		5	54	0	0	0	0.000602	0	5	54				
FAM78B	149297	broad.mit.edu	37	1	166039586	166039586	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:166039586C>G	ENST00000338353.3	-	3	1267	c.678G>C	c.(676-678)atG>atC	p.M226I	FAM78B_ENST00000354422.3_Missense_Mutation_p.M226I			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	226								p.M226I(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GGATGGGTTCCATCCGGCTCA	0.627																																							uc001gdr.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(676-678)ATG>ATC		hypothetical protein LOC149297							90.0	88.0	88.0					1																	166039586		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039586C>G	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.678G>C	1.37:g.166039586C>G	ENSP00000339681:p.Met226Ile					FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	p.M226I	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			3	1268	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		226					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.678G>C	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854315	0.51270	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	D;D	0.94330	-3.4;-3.4	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	L	0.44542	1.39	0.48571	D	0.999674	B	0.28128	0.201	B	0.26416	0.069	D	0.87370	0.2350	9	0.72032	D	0.01	-28.4137	17.3517	0.87326	0.0:1.0:0.0:0.0	.	226	Q5VT40	FA78B_HUMAN	I	226	ENSP00000346404:M226I;ENSP00000339681:M226I	ENSP00000339681:M226I	M	-	3	0	FAM78B	164306210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.793000	0.55484	2.687000	0.91594	0.655000	0.94253	ATG		0.627	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		14	87	0	0	0	0.001855	0	14	87				
DUSP27	92235	broad.mit.edu	37	1	167095342	167095342	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:167095342G>C	ENST00000361200.2	+	6	1140	c.974G>C	c.(973-975)aGt>aCt	p.S325T	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Missense_Mutation_p.S325T|DUSP27_ENST00000271385.5_Missense_Mutation_p.S325T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	325					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S325T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCCACCTGAGTGGCTCCTCC	0.657																																							uc001geb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(973-975)AGT>ACT		dual specificity phosphatase 27							21.0	25.0	23.0					1																	167095342		2203	4299	6502	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095342G>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.974G>C	1.37:g.167095342G>C	ENSP00000354483:p.Ser325Thr						p.S325T	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	974	+			325					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.974G>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954808	0.92726	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03717	3.83;3.83;3.83	4.6	4.6	0.57074	.	5.001620	0.00357	N	0.000022	T	0.12008	0.0292	M	0.65975	2.015	0.40972	D	0.984707	D	0.67145	0.996	P	0.60609	0.877	T	0.03852	-1.0998	10	0.59425	D	0.04	-19.8488	17.9592	0.89079	0.0:0.0:1.0:0.0	.	325	Q5VZP5	DUS27_HUMAN	T	325	ENSP00000354483:S325T;ENSP00000271385:S325T;ENSP00000404874:S325T	ENSP00000271385:S325T	S	+	2	0	DUSP27	165361966	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	5.781000	0.68964	2.524000	0.85096	0.551000	0.68910	AGT		0.657	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		3	1	0	0	0	0.009096	0	3	1				
ADCY10	55811	broad.mit.edu	37	1	167793718	167793718	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:167793718T>A	ENST00000367851.4	-	28	4232	c.4048A>T	c.(4048-4050)Agc>Tgc	p.S1350C	ADCY10_ENST00000367848.1_Missense_Mutation_p.S1258C|ADCY10_ENST00000545172.1_Missense_Mutation_p.S1197C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1350					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.S1350C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATACCTGCTGTTCAGAAGG	0.493																																							uc001ger.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(4048-4050)AGC>TGC		adenylate cyclase 10							147.0	163.0	157.0					1																	167793718		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167793718T>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4048A>T	1.37:g.167793718T>A	ENSP00000356825:p.Ser1350Cys					ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.S1258C|ADCY10_uc010plj.1_Missense_Mutation_p.S1197C	p.S1350C	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			28	4346	-			1350					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.4048A>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	T	3.630	-0.075743	0.07184	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.76060	-0.99;-0.99;-0.99	4.51	-0.461	0.12172	.	1.205400	0.05616	N	0.578911	T	0.41143	0.1146	L	0.36672	1.1	0.26920	N	0.966709	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.34079	-0.9843	9	0.66056	D	0.02	.	2.8447	0.05539	0.3757:0.1941:0.0:0.4302	.	1258;1350	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	C	1197;251;1350;1258	ENSP00000441992:S1197C;ENSP00000356825:S1350C;ENSP00000356822:S1258C	ENSP00000271426:S251C	S	-	1	0	ADCY10	166060342	0.053000	0.20554	0.105000	0.21289	0.002000	0.02628	1.023000	0.30065	-0.090000	0.12462	-1.307000	0.01316	AGC		0.493	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		21	148	0	0	0	0.00333	0	21	148				
SFT2D2	375035	broad.mit.edu	37	1	168206008	168206008	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:168206008G>T	ENST00000271375.4	+	6	485	c.413G>T	c.(412-414)tGg>tTg	p.W138L	SFT2D2_ENST00000367825.3_3'UTR|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_3'UTR	NM_199344.2	NP_955376.1			SFT2 domain containing 2									p.W138L(1)		lung(3)|skin(1)	4	all_hematologic(923;0.215)					GCATTGACGTGGTAAGTAACC	0.393																																							uc001gfi.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(412-414)TGG>TTG		SFT2 domain containing 2							211.0	205.0	207.0					1																	168206008		2203	4300	6503	SO:0001630	splice_region_variant	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168206008G>T	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.413+1G>T	1.37:g.168206008G>T						TBX19_uc001gfj.3_Intron	p.W138L	NM_199344	NP_955376	O95562	SFT2B_HUMAN			6	476	+	all_hematologic(923;0.215)		138			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000271375.4	37	c.413G>T	CCDS1271.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936986	0.92458	.	.	ENSG00000213064	ENST00000271375	T	0.47528	0.84	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	T	0.71230	0.3315	H	0.96111	3.77	.	.	.	D	0.55172	0.97	P	0.59546	0.859	T	0.81756	-0.0787	9	0.72032	D	0.01	-19.4521	15.614	0.76750	0.0:0.0:1.0:0.0	.	138	O95562	SFT2B_HUMAN	L	138	ENSP00000271375:W138L	ENSP00000271375:W138L	W	+	2	0	SFT2D2	166472632	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.761000	0.85260	2.414000	0.81942	0.650000	0.86243	TGG		0.393	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344	Missense_Mutation	48	152	1	0	3.76525e-18	0.00361	6.85275e-18	48	152				
F5	2153	broad.mit.edu	37	1	169510946	169510946	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:169510946G>T	ENST00000367797.3	-	13	3583	c.3382C>A	c.(3382-3384)Caa>Aaa	p.Q1128K	F5_ENST00000367796.3_Missense_Mutation_p.Q1133K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1128	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.Q1128K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGAATGTTTGATAGTGTTCC	0.483																																							uc001ggg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3382-3384)CAA>AAA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						167.0	171.0	170.0					1																	169510946		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510946G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3382C>A	1.37:g.169510946G>T	ENSP00000356771:p.Gln1128Lys						p.Q1128K	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3527	-	all_hematologic(923;0.208)		1128			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3382C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	2.580	-0.297669	0.05532	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.19669	2.13;2.13	4.93	3.05	0.35203	.	0.907686	0.09416	N	0.805137	T	0.09468	0.0233	M	0.65498	2.005	0.09310	N	0.999996	B	0.20368	0.044	B	0.15870	0.014	T	0.43829	-0.9367	9	0.06494	T	0.89	-1.0222	15.8207	0.78638	0.0:0.1457:0.8543:0.0	.	1128	P12259	FA5_HUMAN	K	1128;1133	ENSP00000356771:Q1128K;ENSP00000356770:Q1133K	ENSP00000356770:Q1133K	Q	-	1	0	F5	167777570	0.322000	0.24634	0.005000	0.12908	0.221000	0.24807	1.419000	0.34793	0.606000	0.29965	-1.648000	0.00760	CAA		0.483	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		20	90	1	0	1.33834e-09	0.007413	2.07964e-09	20	90				
SELE	6401	broad.mit.edu	37	1	169698749	169698749	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:169698749T>C	ENST00000333360.7	-	6	920	c.781A>G	c.(781-783)Agc>Ggc	p.S261G	SELE_ENST00000367776.1_Missense_Mutation_p.S261G|SELE_ENST00000367774.1_Missense_Mutation_p.S261G|SELE_ENST00000367781.4_Missense_Mutation_p.S261G|SELE_ENST00000367777.1_Missense_Mutation_p.S261G|SELE_ENST00000367782.4_Missense_Mutation_p.S261G|SELE_ENST00000367779.4_Missense_Mutation_p.S261G|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.S199G|SELE_ENST00000367775.1_Missense_Mutation_p.S199G	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	261	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.S261G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CATGGGAAGCTTCCAGGGTTT	0.448																																							uc001ggm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(781-783)AGC>GGC		selectin E precursor							137.0	130.0	132.0					1																	169698749		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698749T>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.781A>G	1.37:g.169698749T>C	ENSP00000331736:p.Ser261Gly					C1orf112_uc001ggj.2_Intron	p.S261G	NM_000450	NP_000441	P16581	LYAM2_HUMAN			6	938	-	all_hematologic(923;0.208)		261			Sushi 2.|Extracellular (Potential).		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.781A>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	T	9.727	1.161258	0.21538	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.71	3.37	0.38596	Complement control module (2);Sushi/SCR/CCP (3);	0.268702	0.27219	N	0.020378	T	0.31918	0.0812	L	0.39147	1.195	0.09310	N	1	B	0.33528	0.416	B	0.40702	0.338	T	0.23726	-1.0180	10	0.27082	T	0.32	-9.0925	4.738	0.12997	0.0:0.163:0.1624:0.6746	.	261	P16581	LYAM2_HUMAN	G	261;261;199;261;261;261;199;261;261	ENSP00000356755:S261G;ENSP00000356756:S261G;ENSP00000356754:S199G;ENSP00000356753:S261G;ENSP00000331736:S261G;ENSP00000356751:S261G;ENSP00000356749:S199G;ENSP00000356750:S261G;ENSP00000356748:S261G	ENSP00000331736:S261G	S	-	1	0	SELE	167965373	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.380000	0.07427	0.422000	0.26005	0.528000	0.53228	AGC		0.448	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		15	67	0	0	0	0.003163	0	15	67				
GORAB	92344	broad.mit.edu	37	1	170501310	170501310	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:170501310G>A	ENST00000367763.3	+	1	41	c.21G>A	c.(19-21)ttG>ttA	p.L7L	GORAB_ENST00000367762.1_Silent_p.L7L|RP11-576I22.2_ENST00000456083.1_RNA|RP11-576I22.2_ENST00000421020.1_RNA	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	7						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L7L(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGCAGTGTTGGCAGTCGCGG	0.657																																							uc001gha.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(19-21)TTG>TTA		golgin, RAB6-interacting isoform a							51.0	61.0	58.0					1																	170501310		2203	4300	6503	SO:0001819	synonymous_variant	92344					Golgi apparatus|nucleus		g.chr1:170501310G>A	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.21G>A	1.37:g.170501310G>A						GORAB_uc009wvw.2_Silent_p.L7L|GORAB_uc001ggz.3_Silent_p.L7L|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR	p.L7L	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			1	48	+			7					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	ENST00000367763.3	37	c.21G>A	CCDS1289.1																																																																																				0.657	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		7	59	0	0	0	0.00308	0	7	59				
PRRC2C	23215	broad.mit.edu	37	1	171560734	171560734	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:171560734G>T	ENST00000338920.4	+	34	8439	c.8202G>T	c.(8200-8202)caG>caT	p.Q2734H	PRRC2C_ENST00000367742.3_Missense_Mutation_p.Q2736H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q2815H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q2669H	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2813					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.Q2815H(2)									AGGCAAAGCAGAGAGCAGAGG	0.413																																							uc010pmg.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(8200-8202)CAG>CAT		HBxAg transactivated protein 2							80.0	75.0	77.0					1																	171560734		1916	4133	6049	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171560734G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8202G>T	1.37:g.171560734G>T	ENSP00000343629:p.Gln2734His					BAT2L2_uc010pmh.1_Missense_Mutation_p.Q1646H|BAT2L2_uc010pmi.1_Missense_Mutation_p.Q650H|BAT2L2_uc010pmj.1_Missense_Mutation_p.Q266H	p.Q2734H	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			34	8468	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.8202G>T	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.08|12.08	1.831154|1.831154	0.32329|0.32329	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.03330|.	3.97;4.2;4.18;4.18|.	5.93|5.93	2.98|2.98	0.34508|0.34508	.|.	.|.	.|.	.|.	.|.	T|T	0.26122|0.26122	0.0637|0.0637	L|L	0.43152|0.43152	1.355|1.355	0.29337|0.29337	N|N	0.866261|0.866261	D;D|.	0.89917|.	0.99;1.0|.	D;D|.	0.87578|.	0.979;0.998|.	T|T	0.13388|0.13388	-1.0511|-1.0511	9|5	0.66056|.	D|.	0.02|.	.|.	10.0187|10.0187	0.42029|0.42029	0.2877:0.0:0.7123:0.0|0.2877:0.0:0.7123:0.0	.|.	2669;2734|.	B7WNZ6;Q9Y520-4|.	.;.|.	H|I	2815;2767;2669;2736;2734;2570|1217	ENSP00000375928:Q2815H;ENSP00000410219:Q2669H;ENSP00000356716:Q2736H;ENSP00000343629:Q2734H|.	ENSP00000343629:Q2734H|.	Q|R	+|+	3|2	2|0	PRRC2C|PRRC2C	169827357|169827357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.988000|1.988000	0.40697|0.40697	0.364000|0.364000	0.24374|0.24374	0.591000|0.591000	0.81541|0.81541	CAG|AGA		0.413	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		7	57	1	0	1.26484e-09	0.00308	1.97386e-09	7	57				
TNR	7143	broad.mit.edu	37	1	175334200	175334200	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:175334200C>A	ENST00000367674.2	-	12	3241	c.2533G>T	c.(2533-2535)Gtg>Ttg	p.V845L	TNR_ENST00000263525.2_Missense_Mutation_p.V845L			Q92752	TENR_HUMAN	tenascin R	845	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.V845L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGACAGCCACAAGGTTCACA	0.557																																							uc001gkp.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2533-2535)GTG>TTG		tenascin R precursor							93.0	86.0	89.0					1																	175334200		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175334200C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2533G>T	1.37:g.175334200C>A	ENSP00000356646:p.Val845Leu					TNR_uc009wwu.1_Missense_Mutation_p.V845L	p.V845L	NM_003285	NP_003276	Q92752	TENR_HUMAN			10	2614	-	Renal(580;0.146)		845			Fibronectin type-III 6.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2533G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582071	0.28180	.	.	ENSG00000116147	ENST00000367674;ENST00000263525	T;T	0.57107	0.42;0.42	5.91	3.02	0.34903	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.272597	0.36519	N	0.002552	T	0.34716	0.0907	L	0.28458	0.855	0.44834	D	0.997847	B	0.02656	0.0	B	0.13407	0.009	T	0.07214	-1.0784	10	0.18276	T	0.48	.	7.1856	0.25797	0.0:0.6764:0.1218:0.2018	.	845	Q92752	TENR_HUMAN	L	845	ENSP00000356646:V845L;ENSP00000263525:V845L	ENSP00000263525:V845L	V	-	1	0	TNR	173600823	0.999000	0.42202	0.992000	0.48379	0.911000	0.54048	1.485000	0.35519	0.395000	0.25257	-0.140000	0.14226	GTG		0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		8	71	1	0	0.000274275	0.004482	0.000319476	8	71				
TNR	7143	broad.mit.edu	37	1	175372489	175372489	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:175372489G>C	ENST00000367674.2	-	4	1471	c.763C>G	c.(763-765)Ccc>Gcc	p.P255A	TNR_ENST00000263525.2_Missense_Mutation_p.P255A			Q92752	TENR_HUMAN	tenascin R	255	Cys-rich.|EGF-like 3.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.P255A(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGTGTAGGGCTCTTCACAG	0.622																																							uc001gkp.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(763-765)CCC>GCC		tenascin R precursor							110.0	79.0	90.0					1																	175372489		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372489G>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.763C>G	1.37:g.175372489G>C	ENSP00000356646:p.Pro255Ala					TNR_uc009wwu.1_Missense_Mutation_p.P255A|TNR_uc010pmz.1_Missense_Mutation_p.P255A	p.P255A	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	844	-	Renal(580;0.146)		255			EGF-like 3.|Cys-rich.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.763C>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	4.300	0.054973	0.08291	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.03094	4.05;4.05	6.11	0.582	0.17412	EGF, extracellular (1);EGF-like region, conserved site (2);	0.417573	0.25344	N	0.031341	T	0.02727	0.0082	L	0.27975	0.815	0.29382	N	0.863242	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.43180	-0.9407	10	0.05833	T	0.94	.	14.9696	0.71223	0.0:0.5957:0.3213:0.0831	.	255;255	B4DIX8;Q92752	.;TENR_HUMAN	A	255	ENSP00000356646:P255A;ENSP00000263525:P255A	ENSP00000263525:P255A	P	-	1	0	TNR	173639112	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.950000	0.40323	0.111000	0.17947	0.655000	0.94253	CCC		0.622	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		4	45	0	0	0	0.001168	0	4	45				
PAPPA2	60676	broad.mit.edu	37	1	176709266	176709266	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:176709266G>T	ENST00000367662.3	+	14	5249	c.4085G>T	c.(4084-4086)cGc>cTc	p.R1362L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1362					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1362H(1)|p.R1362L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACATCCTCCCGCATTGGTCTT	0.507																																							uc001gkz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4084-4086)CGC>CTC		pappalysin 2 isoform 1							125.0	122.0	123.0					1																	176709266		2015	4171	6186	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709266G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4085G>T	1.37:g.176709266G>T	ENSP00000356634:p.Arg1362Leu					PAPPA2_uc009www.2_RNA	p.R1362L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			14	5249	+			1362					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4085G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	g	2.056	-0.416490	0.04766	.	.	ENSG00000116183	ENST00000367662	T	0.01560	4.77	5.91	0.778	0.18543	.	0.619901	0.18472	N	0.140183	T	0.00875	0.0029	N	0.08118	0	0.09310	N	0.999995	B	0.06786	0.001	B	0.01281	0.0	T	0.48007	-0.9072	10	0.22706	T	0.39	-2.0411	2.2711	0.04091	0.498:0.2523:0.1425:0.1072	.	1362	Q9BXP8	PAPP2_HUMAN	L	1362	ENSP00000356634:R1362L	ENSP00000356634:R1362L	R	+	2	0	PAPPA2	174975889	0.116000	0.22171	0.024000	0.17045	0.052000	0.14988	0.692000	0.25482	0.139000	0.18822	-0.285000	0.09966	CGC		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			20	44	1	0	1.96292e-10	0.010504	3.13036e-10	20	44				
SEC16B	89866	broad.mit.edu	37	1	177929539	177929539	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:177929539C>A	ENST00000308284.6	-	8	1026		c.e8-1		SEC16B_ENST00000464631.2_Splice_Site|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)						COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.?(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TAAGAATAACCTGGAATAAAA	0.453																																							uc001gli.1		NA																	1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.e8-1		leucine zipper transcription regulator 2							50.0	46.0	47.0					1																	177929539		1840	4092	5932	SO:0001630	splice_region_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177929539C>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.937-1G>T	1.37:g.177929539C>A						SEC16B_uc001glk.1_Translation_Start_Site|SEC16B_uc001glh.1_Translation_Start_Site|SEC16B_uc009wwz.1_Intron|SEC16B_uc001glj.1_Splice_Site_p.V314_splice|SEC16B_uc001gll.3_Splice_Site_p.V314_splice	p.V313_splice	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			8	1027	-								A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Splice_Site	SNP	ENST00000308284.6	37	c.937_splice	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558853	0.27827	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.052	0.89353	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AL359075.1	176196162	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	5.351000	0.66022	2.788000	0.95919	0.650000	0.86243	.		0.453	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	Intron	5	6	1	0	0.000602214	0.000602	0.000682885	5	6				
TDRD5	163589	broad.mit.edu	37	1	179621306	179621306	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:179621306T>C	ENST00000367614.1	+	13	2493	c.2134T>C	c.(2134-2136)Tca>Cca	p.S712P	TDRD5_ENST00000444136.1_Missense_Mutation_p.S712P|TDRD5_ENST00000294848.8_Missense_Mutation_p.S712P	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	712					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.S712P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAGTCCACAGTCAAAAGAGAG	0.373																																							uc001gnf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2134-2136)TCA>CCA		tudor domain containing 5							92.0	89.0	90.0					1																	179621306		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179621306T>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2134T>C	1.37:g.179621306T>C	ENSP00000356586:p.Ser712Pro					TDRD5_uc010pnp.1_Missense_Mutation_p.S712P|TDRD5_uc001gnh.1_Missense_Mutation_p.S267P	p.S712P	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			13	2384	+			712					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2134T>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310873	0.60414	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.33654	2.67;2.67;2.83;1.4	5.28	-3.28	0.05033	.	3.149960	0.00775	N	0.001221	T	0.19725	0.0474	N	0.16478	0.41	0.09310	N	1	B;B	0.15473	0.013;0.006	B;B	0.11329	0.006;0.002	T	0.09930	-1.0652	10	0.31617	T	0.26	-36.8696	1.8789	0.03224	0.1361:0.3295:0.3125:0.2219	.	712;712	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	P	712;712;712;168	ENSP00000356586:S712P;ENSP00000294848:S712P;ENSP00000406052:S712P;ENSP00000410744:S168P	ENSP00000294848:S712P	S	+	1	0	TDRD5	177887929	0.035000	0.19736	0.000000	0.03702	0.947000	0.59692	0.338000	0.19858	-0.213000	0.10094	0.455000	0.32223	TCA		0.373	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		8	43	0	0	0	0.004482	0	8	43				
TDRD5	163589	broad.mit.edu	37	1	179659919	179659919	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:179659919A>G	ENST00000367614.1	+	17	3146	c.2787A>G	c.(2785-2787)gtA>gtG	p.V929V	TDRD5_ENST00000444136.1_Silent_p.V983V|TDRD5_ENST00000294848.8_Silent_p.V929V	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	929					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.V929V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAGAATCTGTAGACCAGCTGT	0.443																																							uc001gnf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2785-2787)GTA>GTG		tudor domain containing 5							80.0	77.0	78.0					1																	179659919		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179659919A>G	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2787A>G	1.37:g.179659919A>G						TDRD5_uc010pnp.1_Silent_p.V983V|TDRD5_uc001gnh.1_Silent_p.V484V	p.V929V	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			17	3037	+			929					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.2787A>G	CCDS1332.1																																																																																				0.443	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		22	37	0	0	0	0.010504	0	22	37				
CEP350	9857	broad.mit.edu	37	1	179981084	179981084	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:179981084A>G	ENST00000367607.3	+	9	1685	c.1267A>G	c.(1267-1269)Aca>Gca	p.T423A		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	423					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T423A(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTTATAAGTACATCTTCTTG	0.353																																							uc001gnt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1267-1269)ACA>GCA		centrosome-associated protein 350							37.0	38.0	38.0					1																	179981084		2203	4299	6502	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179981084A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1267A>G	1.37:g.179981084A>G	ENSP00000356579:p.Thr423Ala					CEP350_uc009wxl.2_Missense_Mutation_p.T422A|CEP350_uc001gnu.2_Missense_Mutation_p.T257A	p.T423A	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			9	1650	+			423					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.1267A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293114	0.40594	.	.	ENSG00000135837	ENST00000367607	T	0.12672	2.66	5.38	5.38	0.77491	.	0.000000	0.48767	D	0.000179	T	0.26268	0.0641	L	0.43701	1.375	0.40705	D	0.982515	D;B	0.64830	0.994;0.084	D;B	0.70716	0.97;0.019	T	0.01697	-1.1293	9	.	.	.	.	10.5792	0.45246	0.9225:0.0:0.0775:0.0	.	423;423	E7EU22;Q5VT06	.;CE350_HUMAN	A	423	ENSP00000356579:T423A	.	T	+	1	0	CEP350	178247707	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.343000	0.52167	2.024000	0.59613	0.533000	0.62120	ACA		0.353	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	12	0	0	0	0.009096	0	3	12				
IER5	51278	broad.mit.edu	37	1	181058930	181058930	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:181058930G>T	ENST00000367577.4	+	1	1293	c.892G>T	c.(892-894)Ggt>Tgt	p.G298C	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	298								p.G298C(1)		lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						AGAGGAGAGCGGTCCGGAAGC	0.627																																							uc001got.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(892-894)GGT>TGT		immediate early response 5							27.0	34.0	32.0					1																	181058930		2203	4300	6503	SO:0001583	missense	51278							g.chr1:181058930G>T	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.892G>T	1.37:g.181058930G>T	ENSP00000356549:p.Gly298Cys						p.G298C	NM_016545	NP_057629	Q5VY09	IER5_HUMAN			1	1293	+			298					B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	c.892G>T	CCDS1343.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074914	0.55646	.	.	ENSG00000162783	ENST00000367577	T	0.12774	2.65	4.15	3.22	0.36961	.	0.190023	0.24999	U	0.033937	T	0.23611	0.0571	L	0.36672	1.1	0.33465	D	0.585391	D	0.89917	1.0	D	0.71414	0.973	T	0.21109	-1.0255	10	0.62326	D	0.03	.	10.2176	0.43177	0.0988:0.0:0.9012:0.0	.	298	Q5VY09	IER5_HUMAN	C	298	ENSP00000356549:G298C	ENSP00000356549:G298C	G	+	1	0	IER5	179325553	0.100000	0.21855	0.827000	0.32855	0.808000	0.45660	1.491000	0.35583	1.843000	0.53566	0.462000	0.41574	GGT		0.627	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545		5	16	1	0	1.23904e-05	0.000602	1.57558e-05	5	16				
CACNA1E	777	broad.mit.edu	37	1	181620524	181620524	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:181620524C>T	ENST00000367573.2	+	7	1002	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	CACNA1E_ENST00000526775.1_Silent_p.L334L|CACNA1E_ENST00000358338.5_Silent_p.L285L|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.L334L|CACNA1E_ENST00000367570.1_Silent_p.L334L|CACNA1E_ENST00000357570.5_Silent_p.L285L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	334					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.L334L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCATCCCCCTCATCATCATTG	0.438																																							uc001gow.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1000-1002)CTC>CTT		calcium channel, voltage-dependent, R type,							196.0	187.0	190.0					1																	181620524		1924	4139	6063	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181620524C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1002C>T	1.37:g.181620524C>T						CACNA1E_uc009wxr.2_Silent_p.L241L|CACNA1E_uc009wxs.2_Silent_p.L241L	p.L334L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			7	1167	+			334			I.|Helical; Name=S6 of repeat I.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.1002C>T	CCDS55664.1																																																																																				0.438	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		12	73	0	0	0	0.000978	0	12	73				
CACNA1E	777	broad.mit.edu	37	1	181680202	181680202	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:181680202G>C	ENST00000367573.2	+	8	1168	c.1168G>C	c.(1168-1170)Gca>Cca	p.A390P	CACNA1E_ENST00000526775.1_Missense_Mutation_p.A390P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A341P|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A390P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A390P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A341P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	390	Binding to the beta subunit. {ECO:0000250}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.A390P(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATAGACAAAGCAGGTAGGCC	0.607																																							uc001gow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1168-1170)GCA>CCA		calcium channel, voltage-dependent, R type,							45.0	51.0	49.0					1																	181680202		1987	4163	6150	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680202G>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1168G>C	1.37:g.181680202G>C	ENSP00000356545:p.Ala390Pro					CACNA1E_uc009wxs.2_Missense_Mutation_p.A297P	p.A390P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			8	1333	+			390			Cytoplasmic (Potential).|Binding to the beta subunit (By similarity).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1168G>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494030	0.84962	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.15	4.24	0.50183	.	3.375750	0.00760	N	0.001131	D	0.97798	0.9277	M	0.92367	3.3	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.55455	0.776;0.776	D	0.89622	0.3849	10	0.87932	D	0	.	13.329	0.60475	0.0777:0.0:0.9223:0.0	.	390;390	Q15878-2;Q15878-3	.;.	P	390;390;390;341;341;390;390	ENSP00000432038:A390P;ENSP00000356542:A390P;ENSP00000434814:A390P;ENSP00000350183:A341P;ENSP00000351101:A341P;ENSP00000353222:A390P;ENSP00000356545:A390P	ENSP00000350183:A341P	A	+	1	0	CACNA1E	179946825	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.717000	0.98755	1.172000	0.42781	-0.140000	0.14226	GCA		0.607	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	46	0	0	0	0.000602	0	5	46				
RGL1	23179	broad.mit.edu	37	1	183895386	183895386	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:183895386G>T	ENST00000360851.3	+	18	2445	c.2267G>T	c.(2266-2268)cGg>cTg	p.R756L	RGL1_ENST00000536277.1_Missense_Mutation_p.R754L|RGL1_ENST00000539189.1_Missense_Mutation_p.R727L|RGL1_ENST00000304685.4_Missense_Mutation_p.R791L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	756					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R791L(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACAGCTAAACGGGGCTGCTGG	0.527																																							uc001gqo.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|lung(2)	11						c.(2266-2268)CGG>CTG		ral guanine nucleotide dissociation							67.0	63.0	65.0					1																	183895386		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183895386G>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2267G>T	1.37:g.183895386G>T	ENSP00000354097:p.Arg756Leu					RGL1_uc001gqm.2_Missense_Mutation_p.R791L|RGL1_uc010pog.1_Missense_Mutation_p.R754L|RGL1_uc010poh.1_Missense_Mutation_p.R754L|RGL1_uc010poi.1_Missense_Mutation_p.R727L	p.R756L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			18	2424	+			756					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.2267G>T		.	.	.	.	.	.	.	.	.	.	G	25.5	4.642813	0.87859	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.50001	0.76;0.76;0.79;0.79;0.76	5.37	5.37	0.77165	.	0.170472	0.52532	D	0.000064	T	0.53546	0.1803	N	0.24115	0.695	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.993;0.999	D;D;P;D	0.70487	0.969;0.931;0.814;0.931	T	0.56739	-0.7929	10	0.72032	D	0.01	.	13.4334	0.61068	0.0767:0.0:0.9233:0.0	.	727;754;756;791	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	L	791;791;754;756;727	ENSP00000303192:R791L;ENSP00000356501:R791L;ENSP00000438662:R754L;ENSP00000354097:R756L;ENSP00000437355:R727L	ENSP00000303192:R791L	R	+	2	0	RGL1	182162009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.468000	0.60162	2.666000	0.90696	0.650000	0.86243	CGG		0.527	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		12	49	1	0	2.68362e-12	0.001368	4.45536e-12	12	49				
SWT1	54823	broad.mit.edu	37	1	185143897	185143897	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:185143897G>T	ENST00000367500.4	+	5	783	c.618G>T	c.(616-618)tgG>tgT	p.W206C	SWT1_ENST00000367501.3_Missense_Mutation_p.W206C	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	206								p.W206C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TAGAGAAATGGAAGAGAAATC	0.328																																							uc001grg.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(616-618)TGG>TGT		hypothetical protein LOC54823							54.0	61.0	59.0					1																	185143897		2196	4294	6490	SO:0001583	missense	54823							g.chr1:185143897G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.618G>T	1.37:g.185143897G>T	ENSP00000356470:p.Trp206Cys					C1orf26_uc001grh.3_Missense_Mutation_p.W206C	p.W206C	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			5	732	+			206					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.618G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	2.128	-0.399898	0.04865	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.14766	2.48;2.48	5.66	0.568	0.17333	.	0.953390	0.08798	N	0.892156	T	0.04092	0.0114	N	0.01742	-0.745	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45338	-0.9268	10	0.11182	T	0.66	.	4.5505	0.12110	0.0:0.3707:0.3176:0.3116	.	206	Q5T5J6	SWT1_HUMAN	C	206	ENSP00000356471:W206C;ENSP00000356470:W206C	ENSP00000356470:W206C	W	+	3	0	SWT1	183410520	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-0.092000	0.11129	0.062000	0.16340	-0.519000	0.04390	TGG		0.328	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		27	72	1	0	3.28513e-13	0.003954	5.54246e-13	27	72				
HMCN1	83872	broad.mit.edu	37	1	186084471	186084471	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:186084471G>T	ENST00000271588.4	+	75	11715	c.11486G>T	c.(11485-11487)gGg>gTg	p.G3829V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3829V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3829	Ig-like C2-type 37.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G3829V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGGCTACTGGGATACCAAAA	0.388																																							uc001grq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(11485-11487)GGG>GTG		hemicentin 1 precursor							128.0	119.0	122.0					1																	186084471		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186084471G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11486G>T	1.37:g.186084471G>T	ENSP00000271588:p.Gly3829Val						p.G3829V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			75	11715	+			3829			Ig-like C2-type 37.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.11486G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573589	0.86542	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79940	-1.32;-1.32	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097027	0.64402	D	0.000001	D	0.93019	0.7778	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94567	0.7767	10	0.87932	D	0	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	3829	Q96RW7	HMCN1_HUMAN	V	3829	ENSP00000271588:G3829V;ENSP00000356462:G3829V	ENSP00000271588:G3829V	G	+	2	0	HMCN1	184351094	1.000000	0.71417	0.405000	0.26409	0.933000	0.57130	9.806000	0.99153	2.767000	0.95098	0.561000	0.74099	GGG		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		13	83	1	0	0.00185496	0.001855	0.00205542	13	83				
HMCN1	83872	broad.mit.edu	37	1	186113375	186113375	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:186113375A>T	ENST00000271588.4	+	90	14224	c.13995A>T	c.(13993-13995)acA>acT	p.T4665T	HMCN1_ENST00000367492.2_Silent_p.T4665T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4665	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T4665T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTACTCAGACAAGAGCAAGAC	0.478																																							uc001grq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(13993-13995)ACA>ACT		hemicentin 1 precursor							154.0	155.0	155.0					1																	186113375		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186113375A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13995A>T	1.37:g.186113375A>T						HMCN1_uc001grs.1_Silent_p.T234T	p.T4665T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			90	14224	+			4665			TSP type-1 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.13995A>T	CCDS30956.1																																																																																				0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		19	119	0	0	0	0.008871	0	19	119				
TPR	7175	broad.mit.edu	37	1	186308841	186308841	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:186308841C>G	ENST00000367478.4	-	30	4380	c.4084G>C	c.(4084-4086)Gaa>Caa	p.E1362Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1362					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E1362Q(1)|p.E1363Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTATGAACTTCCTTTTCAGAA	0.318			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(4084-4086)GAA>CAA		nuclear pore complex-associated protein TPR							76.0	72.0	73.0					1																	186308841		1813	4078	5891	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186308841C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4084G>C	1.37:g.186308841C>G	ENSP00000356448:p.Glu1362Gln						p.E1362Q	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	30	4381	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1362			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4084G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718526	0.89205	.	.	ENSG00000047410	ENST00000367478	T	0.36340	1.26	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.77616	2.38	0.80722	D	1	D	0.67145	0.996	D	0.67382	0.951	T	0.65776	-0.6086	10	0.52906	T	0.07	.	17.7579	0.88455	0.0:1.0:0.0:0.0	.	1362	P12270	TPR_HUMAN	Q	1362	ENSP00000356448:E1362Q	ENSP00000356448:E1362Q	E	-	1	0	TPR	184575464	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.166000	0.77553	2.191000	0.70037	0.585000	0.79938	GAA		0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		5	39	0	0	0	0.000602	0	5	39				
RGS1	5996	broad.mit.edu	37	1	192544930	192544930	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:192544930C>T	ENST00000367459.3	+	1	74	c.8C>T	c.(7-9)gCa>gTa	p.A3V	RGS1_ENST00000469578.2_Missense_Mutation_p.A3V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	3					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.A3V(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ACCATGCGCGCAGCAGCCATC	0.443																																							uc001gsi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(7-9)GCA>GTA		regulator of G-protein signalling 1							81.0	82.0	82.0					1																	192544930		2203	4300	6503	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192544930C>T	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.8C>T	1.37:g.192544930C>T	ENSP00000356429:p.Ala3Val					RGS1_uc010pou.1_Missense_Mutation_p.A3V	p.A3V	NM_002922	NP_002913	Q08116	RGS1_HUMAN			1	74	+		Breast(1374;0.188)	3					B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.8C>T	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504220	0.44558	.	.	ENSG00000090104	ENST00000367459	T	0.40225	1.04	5.55	4.63	0.57726	.	0.331023	0.22078	N	0.064932	T	0.47948	0.1473	N	0.19112	0.55	0.38271	D	0.942149	D;P	0.67145	0.996;0.813	D;B	0.63877	0.919;0.357	T	0.58160	-0.7685	10	0.72032	D	0.01	.	15.2752	0.73737	0.0:0.8592:0.1408:0.0	.	3;3	Q08116-2;Q08116	.;RGS1_HUMAN	V	3	ENSP00000356429:A3V	ENSP00000356429:A3V	A	+	2	0	RGS1	190811553	0.955000	0.32602	0.999000	0.59377	0.881000	0.50899	2.697000	0.47060	1.556000	0.49512	0.591000	0.81541	GCA		0.443	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		14	35	0	0	0	0.003163	0	14	35				
CFH	3075	broad.mit.edu	37	1	196711029	196711029	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:196711029G>T	ENST00000367429.4	+	19	3221	c.2981G>T	c.(2980-2982)aGc>aTc	p.S994I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	994	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.S994I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGTTTACCTAGCTTTGAAAAT	0.363																																							uc001gtj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(2980-2982)AGC>ATC		complement factor H isoform a precursor							99.0	96.0	97.0					1																	196711029		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196711029G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2981G>T	1.37:g.196711029G>T	ENSP00000356399:p.Ser994Ile						p.S994I	NM_000186	NP_000177	P08603	CFAH_HUMAN			19	3221	+			994			Sushi 17.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2981G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	15.10	2.734215	0.48939	.	.	ENSG00000000971	ENST00000367429	T	0.65732	-0.17	5.76	-11.5	0.00074	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.32793	0.0841	L	0.37507	1.11	0.09310	N	1	P	0.36587	0.559	B	0.27715	0.082	T	0.09487	-1.0672	9	0.30854	T	0.27	.	0.4177	0.00451	0.296:0.2625:0.1303:0.3112	.	994	P08603	CFAH_HUMAN	I	994	ENSP00000356399:S994I	ENSP00000356399:S994I	S	+	2	0	CFH	194977652	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.822000	0.01711	-3.281000	0.00197	-0.157000	0.13467	AGC		0.363	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		11	42	1	0	3.86212e-05	0.008291	4.78167e-05	11	42				
CFHR2	3080	broad.mit.edu	37	1	196881879	196881879	+	Intron	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:196881879C>G	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Nonsense_Mutation_p.S89*|CFHR4_ENST00000608469.1_Nonsense_Mutation_p.S18*|CFHR4_ENST00000367416.2_Nonsense_Mutation_p.S335*|CFHR4_ENST00000367418.2_Nonsense_Mutation_p.S89*			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.S335*(1)|p.S89*(1)		large_intestine(2)|ovary(1)|skin(3)	6						GGAACATGCTCAAAATCAGAT	0.254																																							uc001gto.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(265-267)TCA>TGA		complement factor H-related 4 precursor							16.0	17.0	16.0					1																	196881879		1968	4197	6165	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196881879C>G	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-36706C>G	1.37:g.196881879C>G						CFHR4_uc009wyy.2_Nonsense_Mutation_p.S335*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.S336*	p.S89*	NM_006684	NP_006675	Q92496	FHR4_HUMAN			3	335	+			89			Sushi 2.		Q14310|Q5T9T1	Nonsense_Mutation	SNP	ENST00000367421.3	37	c.266C>G		.	.	.	.	.	.	.	.	.	.	C	24.4	4.532694	0.85812	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	.	.	.	2.11	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	5.0384	0.14447	0.0:0.8129:0.0:0.1871	.	.	.	.	X	335;89;89;89	.	ENSP00000251424:S89X	S	+	2	0	CFHR4	195148502	0.996000	0.38824	0.987000	0.45799	0.620000	0.37586	0.226000	0.17776	0.401000	0.25424	0.205000	0.17691	TCA		0.254	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		3	30	0	0	0	0.009096	0	3	30				
CFHR5	81494	broad.mit.edu	37	1	196965196	196965196	+	Missense_Mutation	SNP	T	T	A	rs143240067	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:196965196T>A	ENST00000256785.4	+	6	944	c.835T>A	c.(835-837)Tat>Aat	p.Y279N	CFHR5_ENST00000367414.5_Missense_Mutation_p.Y303N			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	279	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.Y279N(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CGAGTACGGTTATGTTCAGCC	0.353													T|||	2	0.000399361	0.0015	0.0	5008	,	,		19227	0.0		0.0	False		,,,				2504	0.0						uc001gts.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(835-837)TAT>AAT		complement factor H-related 5 precursor		T	ASN/TYR	9,4397	15.5+/-35.6	0,9,2194	146.0	138.0	141.0		835	1.7	0.1	1	dbSNP_134	141	0,8600		0,0,4300	yes	missense	CFHR5	NM_030787.3	143	0,9,6494	AA,AT,TT		0.0,0.2043,0.0692	possibly-damaging	279/570	196965196	9,12997	2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196965196T>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.835T>A	1.37:g.196965196T>A	ENSP00000256785:p.Tyr279Asn						p.Y279N	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			6	963	+			279			Sushi 5.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.835T>A	CCDS1387.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	12.88	2.069662	0.36470	0.002043	0.0	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.63255	-0.03;-0.03	3.03	1.71	0.24356	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.56292	0.1975	L	0.57130	1.785	0.09310	N	0.999999	B	0.29766	0.256	B	0.37943	0.261	T	0.46707	-0.9172	9	0.21014	T	0.42	.	5.62	0.17451	0.0:0.0:0.2836:0.7164	.	279	Q9BXR6	FHR5_HUMAN	N	303;279	ENSP00000356384:Y303N;ENSP00000256785:Y279N	ENSP00000256785:Y279N	Y	+	1	0	CFHR5	195231819	0.033000	0.19621	0.091000	0.20842	0.004000	0.04260	0.098000	0.15189	1.145000	0.42336	0.363000	0.22086	TAT		0.353	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		18	108	0	0	0	0.007413	0	18	108				
CFHR5	81494	broad.mit.edu	37	1	196967403	196967403	+	Silent	SNP	C	C	T	rs556270179	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:196967403C>T	ENST00000256785.4	+	7	1225	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N	CFHR5_ENST00000367414.5_Silent_p.N396N			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	372	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.N372N(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCTGTATAAACGGGAAATGGA	0.318													C|||	2	0.000399361	0.0	0.0	5008	,	,		14142	0.0		0.0	False		,,,				2504	0.002						uc001gts.3		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(1114-1116)AAC>AAT		complement factor H-related 5 precursor							43.0	42.0	42.0					1																	196967403		2203	4296	6499	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196967403C>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1116C>T	1.37:g.196967403C>T							p.N372N	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			7	1244	+			372			Sushi 6.		Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.1116C>T	CCDS1387.1																																																																																				0.318	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		14	15	0	0	0	0.007413	0	14	15				
F13B	2165	broad.mit.edu	37	1	197024886	197024886	+	Missense_Mutation	SNP	C	C	T	rs192220037		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:197024886C>T	ENST00000367412.1	-	8	1356	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	438	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.R438H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTGTTCGCAACGAGATATTTT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		16038	0.001		0.0	False		,,,				2504	0.0						uc001gtt.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1312-1314)CGT>CAT		coagulation factor XIII B subunit precursor							137.0	132.0	134.0					1																	197024886		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197024886C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1313G>A	1.37:g.197024886C>T	ENSP00000356382:p.Arg438His						p.R438H	NM_001994	NP_001985	P05160	F13B_HUMAN			8	1357	-			438			Sushi 7.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1313G>A	CCDS1388.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.468	-0.560719	0.03939	.	.	ENSG00000143278	ENST00000367412	T	0.64438	-0.1	5.84	-2.74	0.05932	Complement control module (2);Sushi/SCR/CCP (3);	0.812933	0.10027	N	0.725233	T	0.30916	0.0780	N	0.05574	-0.02	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18524	-1.0334	10	0.13108	T	0.6	.	3.4685	0.07558	0.3708:0.2214:0.0:0.4078	.	438	P05160	F13B_HUMAN	H	438	ENSP00000356382:R438H	ENSP00000356382:R438H	R	-	2	0	F13B	195291509	0.003000	0.15002	0.015000	0.15790	0.032000	0.12392	-0.152000	0.10159	-0.376000	0.07943	-0.469000	0.05056	CGT		0.413	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		26	52	0	0	0	0.005443	0	26	52				
ASPM	259266	broad.mit.edu	37	1	197069979	197069979	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:197069979G>A	ENST00000367409.4	-	18	8658	c.8402C>T	c.(8401-8403)tCt>tTt	p.S2801F	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2801					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.S2801F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGCAAGGCCAGAAGCTTTATA	0.393																																							uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(8401-8403)TCT>TTT		asp (abnormal spindle)-like, microcephaly							138.0	137.0	137.0					1																	197069979		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197069979G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8402C>T	1.37:g.197069979G>A	ENSP00000356379:p.Ser2801Phe					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.S649F	p.S2801F	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	8659	-			2801					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8402C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	6.761	0.509206	0.12883	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.57752	0.38	4.02	0.71	0.18157	.	1.094200	0.06997	N	0.822675	T	0.59838	0.2223	L	0.54323	1.7	0.09310	N	1	D;P	0.71674	0.998;0.904	D;P	0.67231	0.95;0.514	T	0.45644	-0.9247	10	0.42905	T	0.14	.	1.2288	0.01939	0.2191:0.2452:0.3879:0.1477	.	787;2801	E7EQ84;Q8IZT6	.;ASPM_HUMAN	F	2801;787	ENSP00000356379:S2801F	ENSP00000356376:S787F	S	-	2	0	ASPM	195336602	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	1.003000	0.29809	0.419000	0.25927	0.462000	0.41574	TCT		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		17	109	0	0	0	0.006122	0	17	109				
CRB1	23418	broad.mit.edu	37	1	197398720	197398720	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:197398720C>A	ENST00000367400.3	+	8	2953	c.2818C>A	c.(2818-2820)Cag>Aag	p.Q940K	CRB1_ENST00000535699.1_Missense_Mutation_p.Q916K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.Q828K|CRB1_ENST00000367397.1_Missense_Mutation_p.Q321K|CRB1_ENST00000544212.1_Missense_Mutation_p.Q421K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	940	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q940K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCCCAGTGCCAGCCGGTGCT	0.507																																							uc001gtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2818-2820)CAG>AAG		crumbs homolog 1 precursor							97.0	84.0	88.0					1																	197398720		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197398720C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2818C>A	1.37:g.197398720C>A	ENSP00000356370:p.Gln940Lys					CRB1_uc010poz.1_Missense_Mutation_p.Q916K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.Q828K|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.Q421K|CRB1_uc001gub.1_Missense_Mutation_p.Q589K	p.Q940K	NM_201253	NP_957705	P82279	CRUM1_HUMAN			8	2953	+			940			Extracellular (Potential).|EGF-like 14.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2818C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.716015	0.00706	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	5.55	3.67	0.42095	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.77850	0.4192	L	0.41573	1.285	0.38134	D	0.938234	B;B;B;B	0.33171	0.004;0.4;0.029;0.172	B;B;B;B	0.36464	0.005;0.225;0.012;0.023	T	0.70070	-0.4973	9	0.17832	T	0.49	.	9.0545	0.36397	0.2773:0.652:0.0:0.0708	.	916;828;589;940	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	K	916;940;828;421;321;589	ENSP00000438786:Q916K;ENSP00000356370:Q940K;ENSP00000356369:Q828K;ENSP00000444556:Q421K;ENSP00000356367:Q321K	ENSP00000356367:Q321K	Q	+	1	0	CRB1	195665343	0.996000	0.38824	0.454000	0.27019	0.079000	0.17450	0.662000	0.25038	0.682000	0.31407	-0.182000	0.12963	CAG		0.507	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		4	47	1	0	5.9392e-07	0.001168	8.25141e-07	4	47				
CRB1	23418	broad.mit.edu	37	1	197404326	197404326	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:197404326A>C	ENST00000367400.3	+	9	3468	c.3333A>C	c.(3331-3333)gaA>gaC	p.E1111D	CRB1_ENST00000535699.1_Missense_Mutation_p.E1087D|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.E999D|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367397.1_Missense_Mutation_p.E492D|CRB1_ENST00000544212.1_Missense_Mutation_p.E592D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1111	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1111D(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTACTTTGAAAATGTTCATG	0.378																																							uc001gtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(3331-3333)GAA>GAC		crumbs homolog 1 precursor							66.0	69.0	68.0					1																	197404326		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404326A>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3333A>C	1.37:g.197404326A>C	ENSP00000356370:p.Glu1111Asp					CRB1_uc010poz.1_Missense_Mutation_p.E1087D|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.E999D|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.E592D|CRB1_uc001gub.1_Missense_Mutation_p.E760D	p.E1111D	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3468	+			1111			Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3333A>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	6.419	0.445462	0.12164	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.6	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.68522	0.3010	L	0.47190	1.495	0.23391	N	0.997774	B;D;B;D	0.69078	0.233;0.996;0.021;0.997	B;D;B;D	0.76071	0.065;0.987;0.013;0.978	T	0.55477	-0.8135	9	0.12766	T	0.61	.	3.2945	0.06961	0.5397:0.2621:0.0704:0.1278	.	1087;999;760;1111	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	D	1087;1111;999;592;492;760	ENSP00000438786:E1087D;ENSP00000356370:E1111D;ENSP00000356369:E999D;ENSP00000444556:E592D;ENSP00000356367:E492D	ENSP00000356367:E492D	E	+	3	2	CRB1	195670949	1.000000	0.71417	0.860000	0.33809	0.026000	0.11368	2.018000	0.40991	0.391000	0.25143	0.528000	0.53228	GAA		0.378	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		13	78	0	0	0	0.001368	0	13	78				
PTPRC	5788	broad.mit.edu	37	1	198668713	198668713	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:198668713C>A	ENST00000367376.2	+	5	484	c.313C>A	c.(313-315)Cct>Act	p.P105T	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.P107T|PTPRC_ENST00000352140.3_Missense_Mutation_p.P105T|PTPRC_ENST00000391970.3_3'UTR	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	105					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P105T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGTACAGACGCCTCACCTTCC	0.512											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001gur.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(313-315)CCT>ACT		protein tyrosine phosphatase, receptor type, C							105.0	109.0	108.0					1																	198668713		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668713C>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.313C>A	1.37:g.198668713C>A	ENSP00000356346:p.Pro105Thr		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_uc001gus.1_Missense_Mutation_p.P105T|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.P41T|PTPRC_uc009wzf.1_Missense_Mutation_p.P41T|PTPRC_uc010ppg.1_Missense_Mutation_p.P41T|PTPRC_uc001guu.1_Missense_Mutation_p.P148T|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	p.P105T	NM_002838	NP_002829	P08575	PTPRC_HUMAN			5	493	+			105			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.313C>A		.	.	.	.	.	.	.	.	.	.	C	6.862	0.528334	0.13127	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000418674	T	0.02280	4.36	5.33	1.1	0.20463	.	0.284732	0.25442	N	0.030646	T	0.01835	0.0058	L	0.47716	1.5	0.09310	N	0.999998	B;B;P;P;B;B	0.37330	0.297;0.197;0.59;0.59;0.01;0.051	B;B;B;B;B;B	0.33196	0.112;0.092;0.159;0.159;0.005;0.012	T	0.46735	-0.9170	10	0.21540	T	0.41	.	4.0388	0.09741	0.2751:0.5061:0.1346:0.0842	.	41;41;41;146;105;105	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	T	107;41;105;105;146;39;105;39;105	ENSP00000193532:P105T	ENSP00000271610:P146T	P	+	1	0	PTPRC	196935336	0.004000	0.15560	0.125000	0.21846	0.550000	0.35303	0.117000	0.15583	0.631000	0.30412	0.555000	0.69702	CCT		0.512	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				17	80	1	0	1.15088e-07	0.004007	1.64282e-07	17	80				
NAV1	89796	broad.mit.edu	37	1	201779675	201779675	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:201779675G>T	ENST00000367296.4	+	24	5006	c.4586G>T	c.(4585-4587)aGc>aTc	p.S1529I	NAV1_ENST00000367302.1_Missense_Mutation_p.S1482I|NAV1_ENST00000295624.6_Missense_Mutation_p.S1526I|NAV1_ENST00000367300.3_Missense_Mutation_p.S1469I|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.S1521I|NAV1_ENST00000367295.1_Missense_Mutation_p.S1135I|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1529					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1526I(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGCGTCGACAGCCTGGTGTTC	0.577																																							uc001gwu.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(4576-4578)AGC>ATC		neuron navigator 1							39.0	36.0	37.0					1																	201779675		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779675G>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4586G>T	1.37:g.201779675G>T	ENSP00000356265:p.Ser1529Ile					NAV1_uc001gwx.2_Missense_Mutation_p.S1135I	p.S1526I	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			23	4924	+			1529					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.4577G>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229536	0.79688	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	4.97	4.97	0.65823	.	0.150552	0.64402	D	0.000016	D	0.93635	0.7967	M	0.72118	2.19	0.47009	D	0.999283	D;D	0.69078	0.997;0.975	D;P	0.65684	0.937;0.75	D	0.94262	0.7503	10	0.87932	D	0	-28.5716	18.0227	0.89259	0.0:0.0:1.0:0.0	.	1135;1526	Q8NEY1-5;Q8NEY1-3	.;.	I	1482;1529;1526;1521;1469;1135	ENSP00000356271:S1482I;ENSP00000356265:S1529I;ENSP00000295624:S1526I;ENSP00000356266:S1521I;ENSP00000356269:S1469I;ENSP00000356264:S1135I	ENSP00000295624:S1526I	S	+	2	0	NAV1	200046298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.730000	0.55006	2.563000	0.86464	0.585000	0.79938	AGC		0.577	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		8	8	1	0	5.4927e-09	0.004482	8.34799e-09	8	8				
LMOD1	25802	broad.mit.edu	37	1	201869655	201869655	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:201869655C>A	ENST00000367288.4	-	2	732	c.486G>T	c.(484-486)cgG>cgT	p.R162R	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	162					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.R162R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCCCTGACCCGGCCCTTGT	0.547																																							uc001gxb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(484-486)CGG>CGT		leiomodin 1 (smooth muscle)							70.0	73.0	72.0					1																	201869655		2041	4173	6214	SO:0001819	synonymous_variant	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201869655C>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.486G>T	1.37:g.201869655C>A						LMOD1_uc010ppu.1_Silent_p.R111R	p.R162R	NM_012134	NP_036266	P29536	LMOD1_HUMAN			2	734	-			162					B1APV6|C4AMB1|Q68EN2	Silent	SNP	ENST00000367288.4	37	c.486G>T	CCDS53457.1																																																																																				0.547	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			24	48	1	0	5.45024e-15	0.00333	9.45834e-15	24	48				
LRRN2	10446	broad.mit.edu	37	1	204587709	204587709	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:204587709C>A	ENST00000367175.1	-	1	3624	c.1412G>T	c.(1411-1413)gGc>gTc	p.G471V	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Missense_Mutation_p.G471V|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Missense_Mutation_p.G471V			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	471	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G471V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTACCTCCTGCCTGCATGGGC	0.647																																							uc001hbe.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1411-1413)GGC>GTC		leucine rich repeat neuronal 2 precursor							56.0	53.0	54.0					1																	204587709		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587709C>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1412G>T	1.37:g.204587709C>A	ENSP00000356143:p.Gly471Val					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.G471V|LRRN2_uc009xbf.1_Missense_Mutation_p.G471V|MDM4_uc001hbc.2_Intron	p.G471V	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	1800	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		471			Ig-like C2-type.|Extracellular (Potential).		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1412G>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675783	0.29783	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.67865	-0.29;-0.29;-0.29	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000496	T	0.63803	0.2542	M	0.68317	2.08	0.58432	D	0.999995	P	0.35242	0.492	B	0.38225	0.268	T	0.65253	-0.6213	10	0.45353	T	0.12	.	7.6259	0.28212	0.0:0.798:0.0:0.202	.	471	O75325	LRRN2_HUMAN	V	471	ENSP00000356144:G471V;ENSP00000356145:G471V;ENSP00000356143:G471V	ENSP00000356143:G471V	G	-	2	0	LRRN2	202854332	0.685000	0.27652	0.952000	0.39060	0.947000	0.59692	1.636000	0.37144	2.604000	0.88044	0.591000	0.81541	GGC		0.647	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		5	35	1	0	0.000602214	0.000602	0.000682885	5	35				
TRAF3IP3	80342	broad.mit.edu	37	1	209951493	209951493	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:209951493G>A	ENST00000367024.1	+	13	1743	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	TRAF3IP3_ENST00000367025.3_Silent_p.L409L|TRAF3IP3_ENST00000400959.3_Silent_p.L389L|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367023.1_Silent_p.L145L|TRAF3IP3_ENST00000367026.3_Silent_p.L389L|TRAF3IP3_ENST00000010338.4_Silent_p.L389L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	409						integral component of membrane (GO:0016021)		p.L389L(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AACTCACCCTGGTGACCAGAG	0.458																																							uc001hho.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1225-1227)CTG>CTA		TRAF3-interacting JNK-activating modulator							108.0	106.0	107.0					1																	209951493		2203	4300	6503	SO:0001819	synonymous_variant	80342					integral to membrane	protein binding	g.chr1:209951493G>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1227G>A	1.37:g.209951493G>A						TRAF3IP3_uc001hhl.2_Silent_p.L389L|TRAF3IP3_uc001hhm.1_3'UTR|TRAF3IP3_uc001hhn.2_Silent_p.L389L|TRAF3IP3_uc009xcr.2_Silent_p.L409L	p.L409L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	13	1517	+			409			Cytoplasmic (Potential).|Potential.		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.1227G>A	CCDS1490.2																																																																																				0.458	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			5	33	0	0	0	0.000602	0	5	33				
TRAF3IP3	80342	broad.mit.edu	37	1	209951495	209951495	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:209951495T>A	ENST00000367024.1	+	13	1745	c.1229T>A	c.(1228-1230)gTg>gAg	p.V410E	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V410E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V390E|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V146E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V390E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V390E			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	410						integral component of membrane (GO:0016021)		p.V390E(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTCACCCTGGTGACCAGAGTA	0.463																																							uc001hho.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1228-1230)GTG>GAG		TRAF3-interacting JNK-activating modulator							108.0	106.0	107.0					1																	209951495		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209951495T>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1229T>A	1.37:g.209951495T>A	ENSP00000355991:p.Val410Glu					TRAF3IP3_uc001hhl.2_Missense_Mutation_p.V390E|TRAF3IP3_uc001hhm.1_3'UTR|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.V390E|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.V410E	p.V410E	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	13	1519	+			410			Cytoplasmic (Potential).|Potential.		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.1229T>A	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	T	6.800	0.516577	0.12944	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023	T;T;T;T;T;T	0.70282	-0.3;-0.47;-0.47;-0.47;-0.47;-0.3	4.44	0.431	0.16523	.	0.958534	0.08639	N	0.915778	T	0.55130	0.1901	L	0.31207	0.915	0.24021	N	0.996146	B;B;B	0.13145	0.007;0.003;0.003	B;B;B	0.10450	0.005;0.004;0.003	T	0.38802	-0.9644	10	0.26408	T	0.33	0.8896	7.4601	0.27289	0.5304:0.0:0.0:0.4696	.	410;390;390	Q9Y228;Q9Y228-2;E2QRE5	T3JAM_HUMAN;.;.	E	390;410;390;410;390;146	ENSP00000383743:V390E;ENSP00000355992:V410E;ENSP00000355993:V390E;ENSP00000355991:V410E;ENSP00000010338:V390E;ENSP00000355990:V146E	ENSP00000010338:V390E	V	+	2	0	TRAF3IP3	208018118	0.909000	0.30893	0.702000	0.30337	0.659000	0.38960	-0.109000	0.10840	0.290000	0.22444	-0.344000	0.07964	GTG		0.463	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			5	34	0	0	0	0.000602	0	5	34				
HHAT	55733	broad.mit.edu	37	1	210577832	210577832	+	Missense_Mutation	SNP	G	G	A	rs374048677		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:210577832G>A	ENST00000367010.1	+	6	720	c.493G>A	c.(493-495)Gag>Aag	p.E165K	HHAT_ENST00000413764.2_Missense_Mutation_p.E165K|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000545781.1_Missense_Mutation_p.E102K|HHAT_ENST00000391905.3_Missense_Mutation_p.E165K|HHAT_ENST00000545154.1_Missense_Mutation_p.E166K|HHAT_ENST00000261458.3_Missense_Mutation_p.E165K|HHAT_ENST00000308852.6_Missense_Mutation_p.E120K|HHAT_ENST00000537898.1_Missense_Mutation_p.E100K	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	165			E -> G (in dbSNP:rs2228898).		multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)	p.E165K(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GACAGAAAACGAGTACTACCT	0.557																																							uc009xcx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(493-495)GAG>AAG		hedgehog acyltransferase		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,	1,4405	2.1+/-5.4	0,1,2202	100.0	79.0	86.0		493,493,496,298,493,	4.6	0.9	1		86	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,intron	HHAT	NM_001122834.2,NM_001170580.1,NM_001170587.1,NM_001170588.1,NM_018194.4,NM_001170564.1	56,56,56,56,56,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	165/494,165/494,166/495,100/429,165/494,	210577832	1,13005	2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210577832G>A	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.493G>A	1.37:g.210577832G>A	ENSP00000355977:p.Glu165Lys					HHAT_uc010psq.1_Intron|HHAT_uc001hhz.3_Missense_Mutation_p.E165K|HHAT_uc010psr.1_Missense_Mutation_p.E166K|HHAT_uc010pss.1_Missense_Mutation_p.E120K|HHAT_uc009xcy.2_Missense_Mutation_p.E100K|HHAT_uc010pst.1_Missense_Mutation_p.E102K|HHAT_uc010psu.1_Missense_Mutation_p.E100K	p.E165K	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	6	659	+			165					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.493G>A	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561495	0.65538	2.27E-4	0.0	ENSG00000054392	ENST00000413764;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.65;-0.71;-0.71;-0.71;-0.71;-0.71;-0.65	5.54	4.61	0.57282	.	0.052533	0.64402	D	0.000001	T	0.73528	0.3598	L	0.39020	1.185	0.49389	D	0.999782	D;D;D;D	0.89917	0.999;0.998;0.968;1.0	D;P;P;D	0.68765	0.945;0.815;0.477;0.96	T	0.68526	-0.5385	10	0.06494	T	0.89	-19.7454	15.9822	0.80121	0.0:0.1352:0.8648:0.0	.	120;166;100;165	B7Z2U8;F5H444;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	K	165;166;100;165;102;165;120;165;37	ENSP00000416845:E165K;ENSP00000438468:E166K;ENSP00000442625:E100K;ENSP00000375773:E165K;ENSP00000439229:E102K;ENSP00000261458:E165K;ENSP00000308628:E120K;ENSP00000355977:E165K;ENSP00000413399:E37K	ENSP00000261458:E165K	E	+	1	0	HHAT	208644455	1.000000	0.71417	0.853000	0.33588	0.860000	0.49131	5.599000	0.67592	1.316000	0.45131	-0.282000	0.10007	GAG		0.557	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		7	33	0	0	0	0.001984	0	7	33				
NSL1	25936	broad.mit.edu	37	1	212911978	212911978	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:212911978C>T	ENST00000366977.3	-	6	636	c.618G>A	c.(616-618)agG>agA	p.R206R	NSL1_ENST00000366978.1_Intron|NSL1_ENST00000422588.2_3'UTR|NSL1_ENST00000366975.6_Silent_p.R165R|NSL1_ENST00000366976.1_3'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	206					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.R206R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CAGGCTGCATCCTGAGAACTT	0.398																																							uc001hjn.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(616-618)AGG>AGA		NSL1, MIND kinetochore complex component isoform							90.0	92.0	91.0					1																	212911978		2203	4300	6503	SO:0001819	synonymous_variant	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212911978C>T	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.618G>A	1.37:g.212911978C>T						NSL1_uc001hjm.2_3'UTR|NSL1_uc010pti.1_Silent_p.R165R	p.R206R	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	6	652	-			206					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Silent	SNP	ENST00000366977.3	37	c.618G>A	CCDS1509.1																																																																																				0.398	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		19	72	0	0	0	0.010504	0	19	72				
VASH2	79805	broad.mit.edu	37	1	213134569	213134569	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:213134569C>A	ENST00000517399.1	+	2	338	c.338C>A	c.(337-339)gCg>gAg	p.A113E	VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366967.2_Missense_Mutation_p.A9E|VASH2_ENST00000366965.2_Missense_Mutation_p.A113E|VASH2_ENST00000366966.2_Missense_Mutation_p.A48E|VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000366968.4_Missense_Mutation_p.A48E			Q86V25	VASH2_HUMAN	vasohibin 2	113					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)		p.A113V(1)|p.A113E(1)|p.A48V(1)|p.A48E(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGGCTCCAGGCGATCCAGAAT	0.522																																							uc001hjy.2		NA																	4	Substitution - Missense(4)		lung(2)|endometrium(2)		0						c.(337-339)GCG>GAG		vasohibin 2 isoform 3							153.0	148.0	150.0					1																	213134569		2203	4300	6503	SO:0001583	missense	79805				positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213134569C>A	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.338C>A	1.37:g.213134569C>A	ENSP00000428324:p.Ala113Glu					VASH2_uc001hju.2_Missense_Mutation_p.A113E|VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.A48E|VASH2_uc010ptn.1_Missense_Mutation_p.A9E|VASH2_uc001hjw.2_Missense_Mutation_p.A113E	p.A113E	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	2	542	+			113					B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	c.338C>A	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421698	0.83559	.	.	ENSG00000143494	ENST00000366966;ENST00000366968;ENST00000366965;ENST00000366967;ENST00000517399	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.998	T	0.77965	-0.2389	9	0.59425	D	0.04	-6.3551	17.8538	0.88756	0.0:1.0:0.0:0.0	.	113;113;113	Q86V25;Q86V25-5;Q86V25-4	VASH2_HUMAN;.;.	E	48;48;113;9;113	.	ENSP00000355932:A113E	A	+	2	0	VASH2	211201192	1.000000	0.71417	0.947000	0.38551	0.973000	0.67179	7.069000	0.76755	2.313000	0.78055	0.655000	0.94253	GCG		0.522	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749		19	101	1	0	2.27731e-05	0.001882	2.87577e-05	19	101				
RPS6KC1	26750	broad.mit.edu	37	1	213415049	213415049	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:213415049C>A	ENST00000366960.3	+	11	2380	c.2230C>A	c.(2230-2232)Cat>Aat	p.H744N	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.H732N|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.H532N|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.H447N|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	744					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.H744N(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATGCCAAGCACATGAGGAGAA	0.408																																							uc010ptr.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)	8						c.(2230-2232)CAT>AAT		ribosomal protein S6 kinase, 52kDa, polypeptide							70.0	66.0	68.0					1																	213415049		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415049C>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2230C>A	1.37:g.213415049C>A	ENSP00000355927:p.His744Asn					RPS6KC1_uc001hkd.2_Missense_Mutation_p.H732N|RPS6KC1_uc010pts.1_Missense_Mutation_p.H532N|RPS6KC1_uc010ptt.1_Missense_Mutation_p.H532N|RPS6KC1_uc010ptu.1_Missense_Mutation_p.H563N|RPS6KC1_uc010ptv.1_Missense_Mutation_p.H279N|RPS6KC1_uc001hke.2_Missense_Mutation_p.H563N	p.H744N	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2389	+			744					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2230C>A	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.396956	0.01175	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.38077	1.56;1.57;1.58;1.16	5.62	1.24	0.21308	.	0.907244	0.09582	N	0.782660	T	0.24122	0.0584	L	0.36672	1.1	0.09310	N	1	B;B;B	0.18166	0.026;0.015;0.015	B;B;B	0.18263	0.021;0.009;0.009	T	0.28933	-1.0028	10	0.27785	T	0.31	-32.303	3.113	0.06365	0.1245:0.5382:0.1125:0.2249	.	532;744;732	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	N	532;744;732;447	ENSP00000442306:H532N;ENSP00000355927:H744N;ENSP00000355926:H732N;ENSP00000439282:H447N	ENSP00000355926:H732N	H	+	1	0	RPS6KC1	211481672	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	0.077000	0.14738	-0.027000	0.13873	0.650000	0.86243	CAT		0.408	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		22	28	1	0	2.27731e-05	0.001882	2.87577e-05	22	28				
USH2A	7399	broad.mit.edu	37	1	215956147	215956147	+	Silent	SNP	C	C	T	rs114719960	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:215956147C>T	ENST00000307340.3	-	53	10904	c.10518G>A	c.(10516-10518)acG>acA	p.T3506T	USH2A_ENST00000366943.2_Silent_p.T3506T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3506	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T3506T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTTGGTCCACGTAGGGGGAC	0.403										HNSCC(13;0.011)			C|||	5	0.000998403	0.0038	0.0	5008	,	,		15142	0.0		0.0	False		,,,				2504	0.0						uc001hku.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10516-10518)ACG>ACA		usherin isoform B		C		25,4381	31.7+/-61.6	0,25,2178	101.0	94.0	97.0		10518	-5.0	0.0	1	dbSNP_132	97	0,8600		0,0,4300	no	coding-synonymous	USH2A	NM_206933.2		0,25,6478	TT,TC,CC		0.0,0.5674,0.1922		3506/5203	215956147	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215956147C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10518G>A	1.37:g.215956147C>T		HNSCC(13;0.011)					p.T3506T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	53	10905	-			3506			Extracellular (Potential).|Fibronectin type-III 20.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.10518G>A	CCDS31025.1																																																																																				0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	58	0	0	0	0.008291	0	10	58				
USH2A	7399	broad.mit.edu	37	1	215960131	215960131	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:215960131T>A	ENST00000307340.3	-	52	10654	c.10268A>T	c.(10267-10269)cAc>cTc	p.H3423L	USH2A_ENST00000366943.2_Missense_Mutation_p.H3423L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3423	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.H3423L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTGCAAATGTGGCTGGTAAA	0.468										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10267-10269)CAC>CTC		usherin isoform B							104.0	90.0	95.0					1																	215960131		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960131T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10268A>T	1.37:g.215960131T>A	ENSP00000305941:p.His3423Leu	HNSCC(13;0.011)					p.H3423L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10655	-			3423			Fibronectin type-III 19.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10268A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495220	0.26774	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12147	2.71;2.71	4.88	4.88	0.63580	Fibronectin, type III (3);	0.148306	0.30979	N	0.008495	T	0.19846	0.0477	L	0.50919	1.6	0.09310	N	0.999999	P	0.52842	0.956	P	0.52554	0.702	T	0.10497	-1.0627	10	0.11794	T	0.64	.	13.0847	0.59133	0.0:0.0:0.0:1.0	.	3423	O75445	USH2A_HUMAN	L	3423	ENSP00000305941:H3423L;ENSP00000355910:H3423L	ENSP00000305941:H3423L	H	-	2	0	USH2A	214026754	0.100000	0.21855	0.629000	0.29254	0.825000	0.46686	0.851000	0.27751	1.806000	0.52798	0.533000	0.62120	CAC		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	48	0	0	0	0.000602	0	5	48				
USH2A	7399	broad.mit.edu	37	1	216052364	216052364	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:216052364G>T	ENST00000307340.3	-	42	8686	c.8300C>A	c.(8299-8301)aCt>aAt	p.T2767N	USH2A_ENST00000366943.2_Missense_Mutation_p.T2767N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2767	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T2767N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGTTAAAGTGATGTGAGG	0.408										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8299-8301)ACT>AAT		usherin isoform B							164.0	162.0	162.0					1																	216052364		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052364G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8300C>A	1.37:g.216052364G>T	ENSP00000305941:p.Thr2767Asn	HNSCC(13;0.011)					p.T2767N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8687	-			2767			Fibronectin type-III 14.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8300C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	4.046	0.006194	0.07866	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55930	0.49;0.49	6.16	-0.411	0.12370	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.919528	0.09021	N	0.860096	T	0.32466	0.0830	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.20706	-1.0267	10	0.16420	T	0.52	.	1.7236	0.02917	0.3038:0.0992:0.3859:0.2111	.	2767	O75445	USH2A_HUMAN	N	2767	ENSP00000305941:T2767N;ENSP00000355910:T2767N	ENSP00000305941:T2767N	T	-	2	0	USH2A	214118987	0.000000	0.05858	0.000000	0.03702	0.601000	0.36947	0.603000	0.24149	0.164000	0.19529	-0.142000	0.14014	ACT		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		17	74	1	0	1.99824e-07	0.00499	2.83847e-07	17	74				
USH2A	7399	broad.mit.edu	37	1	216420490	216420490	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:216420490C>T	ENST00000307340.3	-	13	2632	c.2246G>A	c.(2245-2247)tGt>tAt	p.C749Y	USH2A_ENST00000366943.2_Missense_Mutation_p.C749Y|USH2A_ENST00000366942.3_Missense_Mutation_p.C749Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	749	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.C749Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGGAGGTTACACTGGCAGGG	0.408										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2245-2247)TGT>TAT		usherin isoform B							99.0	102.0	101.0					1																	216420490		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420490C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2246G>A	1.37:g.216420490C>T	ENSP00000305941:p.Cys749Tyr	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.C749Y	p.C749Y	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2633	-			749			Laminin EGF-like 5.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2246G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460412	0.84317	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.94330	-3.4;-3.4;-3.4	5.67	5.67	0.87782	EGF-like, laminin (4);	0.000000	0.49305	D	0.000155	D	0.98460	0.9487	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.961;0.999	D	0.99478	1.0947	10	0.87932	D	0	.	19.7612	0.96319	0.0:1.0:0.0:0.0	.	749;749	O75445-2;O75445	.;USH2A_HUMAN	Y	749	ENSP00000305941:C749Y;ENSP00000355910:C749Y;ENSP00000355909:C749Y	ENSP00000305941:C749Y	C	-	2	0	USH2A	214487113	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.047000	0.76599	2.646000	0.89796	0.655000	0.94253	TGT		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		18	97	0	0	0	0.008871	0	18	97				
GPATCH2	55105	broad.mit.edu	37	1	217783678	217783678	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:217783678C>A	ENST00000366935.3	-	5	1193	c.1083G>T	c.(1081-1083)ggG>ggT	p.G361G	GPATCH2_ENST00000366934.3_Silent_p.G361G	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	361					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.G361G(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AAGTTGGAGTCCCTCCAGATT	0.343																																							uc001hlf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1081-1083)GGG>GGT		G patch domain containing 2							105.0	109.0	108.0					1																	217783678		2203	4300	6503	SO:0001819	synonymous_variant	55105					intracellular	nucleic acid binding	g.chr1:217783678C>A	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1083G>T	1.37:g.217783678C>A						GPATCH2_uc001hlg.3_Silent_p.G361G	p.G361G	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	5	1179	-			361					Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	ENST00000366935.3	37	c.1083G>T	CCDS1518.1																																																																																				0.343	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		18	75	1	0	1.50039e-11	0.001882	2.46287e-11	18	75				
IARS2	55699	broad.mit.edu	37	1	220269552	220269552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:220269552G>T	ENST00000302637.5	+	2	478	c.374G>T	c.(373-375)gGa>gTa	p.G125V	IARS2_ENST00000366922.1_Missense_Mutation_p.G53V	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	125					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.G125V(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CCTCATGTTGGACATGCTTTA	0.308																																							uc001hmc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(373-375)GGA>GTA		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						78.0	75.0	76.0					1																	220269552		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220269552G>T	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.374G>T	1.37:g.220269552G>T	ENSP00000303279:p.Gly125Val						p.G125V	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	2	478	+			125			HIGH region (By similarity).		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.374G>T	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596894	0.86953	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	D;D	0.92647	-3.08;-3.08	5.28	5.28	0.74379	Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99659	1.0993	10	0.87932	D	0	0.3444	19.263	0.93975	0.0:0.0:1.0:0.0	.	125	Q9NSE4	SYIM_HUMAN	V	53;125	ENSP00000355889:G53V;ENSP00000303279:G125V	ENSP00000303279:G125V	G	+	2	0	IARS2	218336175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.631000	0.89168	0.557000	0.71058	GGA		0.308	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		6	30	1	0	4.096e-09	0.001168	6.2909e-09	6	30				
DUSP10	11221	broad.mit.edu	37	1	221875811	221875811	+	Missense_Mutation	SNP	G	G	T	rs61757363		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:221875811G>T	ENST00000366899.3	-	4	1630	c.1392C>A	c.(1390-1392)aaC>aaA	p.N464K	DUSP10_ENST00000544095.1_Missense_Mutation_p.N122K|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.N122K	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	464					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N464K(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTGTCACACCGTTGTTTAGGT	0.468																																							uc001hmy.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(1390-1392)AAC>AAA		dual specificity phosphatase 10 isoform a							248.0	229.0	235.0					1																	221875811		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221875811G>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1392C>A	1.37:g.221875811G>T	ENSP00000355866:p.Asn464Lys					DUSP10_uc001hmx.1_Missense_Mutation_p.N122K|DUSP10_uc001hmz.1_Missense_Mutation_p.N122K	p.N464K	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	4	1574	-			464					D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.1392C>A	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	g	2.059	-0.415855	0.04766	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	T;T;T	0.06608	4.31;3.28;3.28	5.72	-11.4	0.00090	.	0.000000	0.85682	D	0.000000	T	0.03053	0.0090	N	0.25957	0.775	0.45427	D	0.9984	B	0.26845	0.161	B	0.24006	0.05	T	0.49588	-0.8924	10	0.05833	T	0.94	.	17.6528	0.88169	0.7377:0.0717:0.1906:0.0	.	464	Q9Y6W6	DUS10_HUMAN	K	464;409;122;122	ENSP00000355866:N464K;ENSP00000322015:N122K;ENSP00000441302:N122K	ENSP00000322015:N122K	N	-	3	2	DUSP10	219942434	0.000000	0.05858	0.019000	0.16419	0.006000	0.05464	-1.775000	0.01783	-2.866000	0.00325	-1.920000	0.00515	AAC		0.468	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		18	155	1	0	1.45105e-14	0.006122	2.50621e-14	18	155				
DUSP10	11221	broad.mit.edu	37	1	221912792	221912792	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:221912792C>A	ENST00000366899.3	-	2	533	c.295G>T	c.(295-297)Gct>Tct	p.A99S	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	99					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A99S(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTGGTGCCAGCGGCAATGGCT	0.562																																							uc001hmy.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(295-297)GCT>TCT		dual specificity phosphatase 10 isoform a							102.0	70.0	81.0					1																	221912792		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221912792C>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.295G>T	1.37:g.221912792C>A	ENSP00000355866:p.Ala99Ser					DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	p.A99S	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	477	-			99					D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.295G>T	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	2.994	-0.207426	0.06180	.	.	ENSG00000143507	ENST00000366899	T	0.02280	4.36	5.76	3.79	0.43588	.	0.729917	0.13539	N	0.380363	T	0.01489	0.0048	N	0.19112	0.55	0.52099	D	0.999946	B	0.02656	0.0	B	0.04013	0.001	T	0.46442	-0.9191	10	0.12430	T	0.62	.	2.7373	0.05244	0.1556:0.5355:0.1328:0.1762	.	99	Q9Y6W6	DUS10_HUMAN	S	99	ENSP00000355866:A99S	ENSP00000355866:A99S	A	-	1	0	DUSP10	219979415	1.000000	0.71417	0.082000	0.20525	0.857000	0.48899	0.793000	0.26944	0.680000	0.31366	0.591000	0.81541	GCT		0.562	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		11	23	1	0	7.03913e-09	0.001368	1.06427e-08	11	23				
SUSD4	55061	broad.mit.edu	37	1	223400986	223400986	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:223400986G>T	ENST00000343846.3	-	6	1644	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	SUSD4_ENST00000484758.2_Silent_p.V268V|SUSD4_ENST00000454695.2_Silent_p.V177V|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.V337V|SUSD4_ENST00000494793.2_Silent_p.V337V			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	337						integral component of membrane (GO:0016021)		p.V337V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGGCCAGGATGACGAGCAGCA	0.582																																							uc001hnx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1009-1011)GTC>GTA		sushi domain containing 4 isoform a							70.0	78.0	75.0					1																	223400986		2181	4278	6459	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223400986G>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1011C>A	1.37:g.223400986G>T						SUSD4_uc001hny.3_Silent_p.V337V|SUSD4_uc010puw.1_Silent_p.V177V	p.V337V	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	6	1645	-			337			Helical; (Potential).		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.1011C>A	CCDS41471.1																																																																																				0.582	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		8	20	1	0	5.4927e-09	0.004482	8.34799e-09	8	20				
NUP133	55746	broad.mit.edu	37	1	229613447	229613447	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:229613447C>T	ENST00000261396.3	-	13	1744	c.1653G>A	c.(1651-1653)ttG>ttA	p.L551L	NUP133_ENST00000537506.1_Silent_p.L535L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	551					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.L551L(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AATCAGAATCCAAATCAGAGT	0.443																																							uc001htn.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(1651-1653)TTG>TTA		nucleoporin 133kDa							85.0	75.0	78.0					1																	229613447		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229613447C>T		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1653G>A	1.37:g.229613447C>T							p.L551L	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			13	1745	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	551					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.1653G>A	CCDS1579.1																																																																																				0.443	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		4	34	0	0	0	0.009096	0	4	34				
TAF5L	27097	broad.mit.edu	37	1	229738095	229738095	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:229738095A>T	ENST00000366676.1	-	3	818	c.819T>A	c.(817-819)acT>acA	p.T273T	TAF5L_ENST00000366675.3_Silent_p.T273T|TAF5L_ENST00000258281.2_Silent_p.T273T			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	273					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T273T(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AGATTTCTGCAGTGTTCAACA	0.478																																							uc001htq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(817-819)ACT>ACA		PCAF associated factor 65 beta isoform a							78.0	74.0	75.0					1																	229738095		2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738095A>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.819T>A	1.37:g.229738095A>T						TAF5L_uc001htr.2_Silent_p.T273T	p.T273T	NM_014409	NP_055224	O75529	TAF5L_HUMAN			4	985	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	273			WD 1.		Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.819T>A	CCDS1581.1																																																																																				0.478	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		20	36	0	0	0	0.010504	0	20	36				
EXOC8	149371	broad.mit.edu	37	1	231473215	231473215	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:231473215C>G	ENST00000360394.2	-	1	363	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'UTR|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.E89Q	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	93					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E93Q(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTTTTCTGCTCGGTCAGCAAA	0.637																																							uc001huq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(277-279)GAG>CAG		exocyst complex 84-kDa subunit							47.0	43.0	45.0					1																	231473215		2203	4300	6503	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231473215C>G	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.277G>C	1.37:g.231473215C>G	ENSP00000353564:p.Glu93Gln					C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank	p.E93Q	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN			1	364	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	93					B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.277G>C	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645553	0.87859	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	D;D	0.82344	-1.6;-1.6	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.92090	0.7493	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.91324	0.5084	10	0.46703	T	0.11	-25.3757	20.0085	0.97443	0.0:1.0:0.0:0.0	.	93	Q8IYI6	EXOC8_HUMAN	Q	93;89	ENSP00000353564:E93Q;ENSP00000355605:E89Q	ENSP00000353564:E93Q	E	-	1	0	EXOC8	229539838	1.000000	0.71417	0.972000	0.41901	0.924000	0.55760	7.574000	0.82434	2.723000	0.93209	0.650000	0.86243	GAG		0.637	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		6	33	0	0	0	0.001168	0	6	33				
SIPA1L2	57568	broad.mit.edu	37	1	232600887	232600887	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:232600887T>A	ENST00000366630.1	-	8	2877	c.2519A>T	c.(2518-2520)aAg>aTg	p.K840M	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K840M			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	840					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.K840M(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGCTTTACCTTCTCCTTTTT	0.507																																							uc001hvg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2518-2520)AAG>ATG		signal-induced proliferation-associated 1 like							133.0	128.0	130.0					1																	232600887		1994	4164	6158	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600887T>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2519A>T	1.37:g.232600887T>A	ENSP00000355589:p.Lys840Met					SIPA1L2_uc001hvf.2_5'Flank	p.K840M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			7	2677	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	840					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2519A>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834419	0.50951	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.54071	0.59;0.59	5.94	3.09	0.35607	.	0.157767	0.53938	D	0.000051	T	0.61451	0.2348	M	0.64170	1.965	0.25574	N	0.986862	P	0.50528	0.936	P	0.57548	0.823	T	0.55101	-0.8193	10	0.87932	D	0	-17.9392	8.8575	0.35236	0.0:0.4043:0.0:0.5957	.	840	Q9P2F8	SI1L2_HUMAN	M	840	ENSP00000355589:K840M;ENSP00000262861:K840M	ENSP00000262861:K840M	K	-	2	0	SIPA1L2	230667510	0.660000	0.27420	0.430000	0.26722	0.668000	0.39293	1.015000	0.29963	0.292000	0.22492	0.528000	0.53228	AAG		0.507	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		20	91	0	0	0	0.002299	0	20	91				
LYST	1130	broad.mit.edu	37	1	235915417	235915417	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:235915417T>C	ENST00000389794.3	-	27	7689	c.7515A>G	c.(7513-7515)atA>atG	p.I2505M	LYST_ENST00000389793.2_Missense_Mutation_p.I2505M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2505					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.I2505M(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGTAACTGCTATGAAAAGTT	0.313																																							uc001hxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(7513-7515)ATA>ATG		lysosomal trafficking regulator							62.0	58.0	60.0					1																	235915417		2203	4297	6500	SO:0001583	missense	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235915417T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7515A>G	1.37:g.235915417T>C	ENSP00000374444:p.Ile2505Met					LYST_uc009xga.1_Missense_Mutation_p.I87M	p.I2505M	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		27	7690	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2505					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.7515A>G	CCDS31062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.69|17.69	3.452348|3.452348	0.63290|0.63290	.|.	.|.	ENSG00000143669|ENSG00000143669	ENST00000389794;ENST00000389793|ENST00000487530	T;T|.	0.62105|.	0.05;0.05|.	5.23|5.23	1.3|1.3	0.21679|0.21679	.|.	0.331422|.	0.35436|.	N|.	0.003203|.	T|T	0.40171|0.40171	0.1106|0.1106	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B|.	0.31054|.	0.306|.	B|.	0.35470|.	0.203|.	T|T	0.15549|0.15549	-1.0433|-1.0433	10|5	0.54805|.	T|.	0.06|.	.|.	2.3048|2.3048	0.04172|0.04172	0.2627:0.0725:0.1363:0.5285|0.2627:0.0725:0.1363:0.5285	.|.	2505|.	Q99698|.	LYST_HUMAN|.	M|G	2505|19	ENSP00000374444:I2505M;ENSP00000374443:I2505M|.	ENSP00000374443:I2505M|.	I|S	-|-	3|1	3|0	LYST|LYST	233982040|233982040	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	0.545000|0.545000	0.23268|0.23268	0.376000|0.376000	0.24707|0.24707	0.533000|0.533000	0.62120|0.62120	ATA|AGC		0.313	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			6	34	0	0	0	0.001984	0	6	34				
LYST	1130	broad.mit.edu	37	1	235973489	235973489	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:235973489G>A	ENST00000389794.3	-	5	803	c.629C>T	c.(628-630)aCc>aTc	p.T210I	LYST_ENST00000536965.1_Missense_Mutation_p.T210I|LYST_ENST00000389793.2_Missense_Mutation_p.T210I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	210					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.T210I(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGTTCTTTGGTTGCTAAGCG	0.433																																							uc001hxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(628-630)ACC>ATC		lysosomal trafficking regulator							176.0	175.0	175.0					1																	235973489		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973489G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.629C>T	1.37:g.235973489G>A	ENSP00000374444:p.Thr210Ile					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.T210I	p.T210I	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	804	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	210					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.629C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262711	0.39995	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.14391	2.51;2.51;2.51	5.48	4.49	0.54785	.	3.976780	0.00166	N	0.000014	T	0.35068	0.0919	L	0.40543	1.245	0.42842	D	0.994059	D;P	0.76494	0.999;0.89	D;B	0.68943	0.961;0.347	T	0.01670	-1.1299	10	0.72032	D	0.01	.	15.118	0.72419	0.0:0.0:0.7665:0.2334	.	210;210	Q99698-3;Q99698	.;LYST_HUMAN	I	210	ENSP00000374444:T210I;ENSP00000374443:T210I;ENSP00000438315:T210I	ENSP00000374443:T210I	T	-	2	0	LYST	234040112	0.947000	0.32204	0.990000	0.47175	0.546000	0.35178	3.312000	0.51927	2.595000	0.87683	0.655000	0.94253	ACC		0.433	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			31	126	0	0	0	0.002836	0	31	126				
HEATR1	55127	broad.mit.edu	37	1	236754225	236754225	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:236754225C>G	ENST00000366582.3	-	12	1566	c.1452G>C	c.(1450-1452)atG>atC	p.M484I	HEATR1_ENST00000366581.2_Missense_Mutation_p.M484I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	484					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.M484I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCAGGCTGAGCATCAAAGAAG	0.348																																							uc001hyd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1450-1452)ATG>ATC		protein BAP28							74.0	72.0	73.0					1																	236754225		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236754225C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1452G>C	1.37:g.236754225C>G	ENSP00000355541:p.Met484Ile						p.M484I	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		12	1577	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	484					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1452G>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304791	0.60305	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.61742	0.09;0.08	5.74	2.82	0.32997	Armadillo-type fold (1);	0.231897	0.47852	N	0.000215	T	0.52008	0.1708	M	0.65975	2.015	0.80722	D	1	B	0.27192	0.171	B	0.22386	0.039	T	0.51826	-0.8656	10	0.46703	T	0.11	.	10.1853	0.42993	0.0:0.7289:0.0:0.2711	.	484	Q9H583	HEAT1_HUMAN	I	484	ENSP00000355541:M484I;ENSP00000355540:M484I	ENSP00000355540:M484I	M	-	3	0	HEATR1	234820848	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.700000	0.37815	0.769000	0.33313	0.591000	0.81541	ATG		0.348	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		6	19	0	0	0	0.001984	0	6	19				
ZBTB18	10472	broad.mit.edu	37	1	244217947	244217947	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:244217947G>A	ENST00000358704.4	+	2	1020	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	282					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCCTGTGATGAGAGTGATGT	0.468																																							uc001iae.2		NA																	0				ovary(3)|pancreas(2)	5						c.(844-846)GAG>AAG		zinc finger protein 238 isoform 2							87.0	87.0	87.0					1																	244217947		2203	4300	6503	SO:0001583	missense	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244217947G>A	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.871G>A	1.37:g.244217947G>A	ENSP00000351539:p.Glu291Lys					ZNF238_uc001iad.3_Missense_Mutation_p.E291K|ZNF238_uc001iaf.1_3'UTR	p.E282K	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1366	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		282					A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.844G>A	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714143	0.48622	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.17528	2.27	5.73	5.73	0.89815	.	0.048745	0.85682	D	0.000000	T	0.23054	0.0557	L	0.27053	0.805	0.80722	D	1	P;P	0.50710	0.898;0.938	B;P	0.49953	0.424;0.627	T	0.00531	-1.1686	10	0.62326	D	0.03	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	282;291	Q99592;Q99592-2	ZN238_HUMAN;.	K	291	ENSP00000351539:E291K	ENSP00000351539:E291K	E	+	1	0	ZNF238	242284570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.019000	0.88732	2.718000	0.92993	0.650000	0.86243	GAG		0.468	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		9	56	0	0	0	0.006214	0	9	56				
NLRP3	114548	broad.mit.edu	37	1	247592911	247592911	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247592911C>A	ENST00000336119.3	+	4	2927	c.2181C>A	c.(2179-2181)tcC>tcA	p.S727S	NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Silent_p.S727S|NLRP3_ENST00000366497.2_Silent_p.S727S|NLRP3_ENST00000366496.2_Silent_p.S727S	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	727					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.S727S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACCTCACTTCCAGTTTTTGCC	0.502																																							uc001icr.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2179-2181)TCC>TCA		NLR family, pyrin domain containing 3 isoform a							91.0	97.0	95.0					1																	247592911		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247592911C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2181C>A	1.37:g.247592911C>A						NLRP3_uc001ics.2_Silent_p.S727S|NLRP3_uc001icu.2_Silent_p.S727S|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Silent_p.S725S	p.S727S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	2319	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	727					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2181C>A	CCDS1632.1																																																																																				0.502	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		18	122	1	0	5.03518e-11	0.007413	8.19132e-11	18	122				
OR2G2	81470	broad.mit.edu	37	1	247751823	247751823	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247751823G>T	ENST00000320065.1	+	1	162	c.162G>T	c.(160-162)ctG>ctT	p.L54L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L54L(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCTCGTCTGGAACCCAAGC	0.428																																							uc010pyy.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(160-162)CTG>CTT		olfactory receptor, family 2, subfamily G,							264.0	240.0	248.0					1																	247751823		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751823G>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.162G>T	1.37:g.247751823G>T							p.L54L	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	162	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		54			Cytoplasmic (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.162G>T	CCDS31092.1																																																																																				0.428	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			23	155	1	0	5.45024e-15	0.00333	9.45834e-15	23	155				
OR2G2	81470	broad.mit.edu	37	1	247752093	247752093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247752093C>A	ENST00000320065.1	+	1	432	c.432C>A	c.(430-432)tgC>tgA	p.C144*	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C144*(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCATCTCTGCATGGCCTTGG	0.572																																							uc010pyy.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(430-432)TGC>TGA		olfactory receptor, family 2, subfamily G,							251.0	214.0	226.0					1																	247752093		2203	4300	6503	SO:0001587	stop_gained	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752093C>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.432C>A	1.37:g.247752093C>A	ENSP00000326349:p.Cys144*						p.C144*	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	432	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		144			Helical; Name=4; (Potential).		Q5JQT2|Q6IEZ0	Nonsense_Mutation	SNP	ENST00000320065.1	37	c.432C>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	7.814	0.716320	0.15306	.	.	ENSG00000177489	ENST00000320065	.	.	.	4.29	-3.67	0.04476	.	0.000000	0.40818	U	0.001020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8715	0.46885	0.0:0.4306:0.0:0.5694	.	.	.	.	X	144	.	ENSP00000326349:C144X	C	+	3	2	OR2G2	245818716	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.166000	0.03129	-0.743000	0.04784	-0.214000	0.12660	TGC		0.572	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			29	153	1	0	8.88839e-20	0.002096	1.64024e-19	29	153				
OR2G2	81470	broad.mit.edu	37	1	247752523	247752523	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247752523C>G	ENST00000320065.1	+	1	862	c.862C>G	c.(862-864)Ctt>Gtt	p.L288V	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L288V(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACCCGCATGCTTAACCCTCT	0.413																																							uc010pyy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(862-864)CTT>GTT		olfactory receptor, family 2, subfamily G,							119.0	123.0	121.0					1																	247752523		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752523C>G	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.862C>G	1.37:g.247752523C>G	ENSP00000326349:p.Leu288Val						p.L288V	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	862	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		288			Helical; Name=7; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.862C>G	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683903	0.29872	.	.	ENSG00000177489	ENST00000320065	T	0.45276	0.9	4.29	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.247881	0.20434	N	0.092401	T	0.50548	0.1622	L	0.48986	1.54	0.24087	N	0.995923	D	0.76494	0.999	D	0.87578	0.998	T	0.24048	-1.0171	10	0.48119	T	0.1	.	4.5703	0.12207	0.0:0.6098:0.1911:0.1991	.	288	Q8NGZ5	OR2G2_HUMAN	V	288	ENSP00000326349:L288V	ENSP00000326349:L288V	L	+	1	0	OR2G2	245819146	0.000000	0.05858	0.634000	0.29324	0.558000	0.35554	-0.718000	0.04980	0.958000	0.37956	0.591000	0.81541	CTT		0.413	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			27	143	0	0	0	0.008361	0	27	143				
OR2G3	81469	broad.mit.edu	37	1	247769067	247769067	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247769067C>G	ENST00000320002.2	+	1	212	c.180C>G	c.(178-180)taC>taG	p.Y60*	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y60*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCCCAATGTACTTTTTTCTCA	0.423																																							uc010pyz.1		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(178-180)TAC>TAG		olfactory receptor, family 2, subfamily G,							271.0	261.0	264.0					1																	247769067		2203	4300	6503	SO:0001587	stop_gained	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769067C>G	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.180C>G	1.37:g.247769067C>G	ENSP00000326301:p.Tyr60*						p.Y60*	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	180	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		60			Helical; Name=2; (Potential).		B2RN64|Q5JQT1|Q6IF45	Nonsense_Mutation	SNP	ENST00000320002.2	37	c.180C>G	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573350	0.45902	.	.	ENSG00000177476	ENST00000320002	.	.	.	3.79	2.86	0.33363	.	0.000000	0.33691	U	0.004652	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2562	0.37584	0.0:0.8896:0.0:0.1104	.	.	.	.	X	60	.	ENSP00000326301:Y60X	Y	+	3	2	OR2G3	245835690	0.906000	0.30813	0.996000	0.52242	0.106000	0.19336	0.042000	0.13949	0.927000	0.37143	0.486000	0.48141	TAC		0.423	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			39	217	0	0	0	0.00623	0	39	217				
OR2AK2	391191	broad.mit.edu	37	1	248128964	248128964	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248128964G>T	ENST00000366480.3	+	1	430	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G111C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TAGATTTTTGGGCTGTGAGAT	0.478																																					Melanoma(45;390 1181 23848 28461 41504)	Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(331-333)GGC>TGC		olfactory receptor, family 2, subfamily AK,							284.0	254.0	265.0					1																	248128964		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128964G>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.331G>T	1.37:g.248128964G>T	ENSP00000355436:p.Gly111Cys					OR2L13_uc001ids.2_Intron	p.G111C	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	331	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		111			Extracellular (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.331G>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	12.83	2.055243	0.36277	.	.	ENSG00000187080	ENST00000366480	T	0.10005	2.92	2.89	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.32102	0.0818	M	0.83953	2.67	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.04650	-1.0936	9	0.87932	D	0	.	8.7029	0.34336	0.1237:0.0:0.8763:0.0	.	111	Q8NG84	O2AK2_HUMAN	C	111	ENSP00000355436:G111C	ENSP00000355436:G111C	G	+	1	0	OR2AK2	246195587	0.011000	0.17503	0.015000	0.15790	0.107000	0.19398	1.856000	0.39389	0.526000	0.28541	0.455000	0.32223	GGC		0.478	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		27	147	1	0	2.65835e-16	0.007291	4.73173e-16	27	147				
OR2L13	284521	broad.mit.edu	37	1	248154134	248154134	+	Intron	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248154134A>T	ENST00000366478.2	+	1	194					NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTAGCCTGCACGGATACCTG	0.458																																							uc001idv.1		NA																	0					0						c.(322-324)ACG>TCG		RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53;																																				SO:0001627	intron_variant	26247							g.chr1:248154134A>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000366478.2:c.-144+53448A>T	1.37:g.248154134A>T						OR2L13_uc001ids.2_Intron	p.T108S	NR_002145						1	566	+								Q5VUR5	Missense_Mutation	SNP	ENST00000366478.2	37	c.322A>T	CCDS1637.1																																																																																				0.458	OR2L13-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_175911		13	76	0	0	0	0.003163	0	13	76				
OR2M1P	388762	broad.mit.edu	37	1	248285736	248285737	+	IGR	DNP	AC	AC	TT			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248285736_248285737AC>TT								OR2L13 (21512 upstream) : OR2M5 (22712 downstream)																							TCCTTCTCCTACTGTGGGTCTC	0.416																																							uc001idy.1		NA																	0					0						c.(298-300)TAC>TTT		RecName: Full=Olfactory receptor 2M5;																																				SO:0001628	intergenic_variant	388762							g.chr1:248285736_248285737AC>TT																													1.37:g.248285736_248285737delinsTT							p.Y100F	NR_002141						1	299_300	+									Missense_Mutation	DNP		37	c.299_300AC>TT																																																																																				0	0.416									28	188	0	0	0	0.004672	0	28	188				
OR2M5	127059	broad.mit.edu	37	1	248309381	248309381	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248309381G>T	ENST00000366476.1	+	1	932	c.932G>T	c.(931-933)gGa>gTa	p.G311V		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G311V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGCAAGTGTGGAGAGTGAGTA	0.428																																							uc010pze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(931-933)GGA>GTA		olfactory receptor, family 2, subfamily M,							44.0	41.0	42.0					1																	248309381		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309381G>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.932G>T	1.37:g.248309381G>T	ENSP00000355432:p.Gly311Val						p.G311V	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	932	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		311			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.932G>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	7.906	0.735346	0.15574	.	.	ENSG00000162727	ENST00000366476	T	0.10960	2.82	2.48	1.38	0.22167	.	.	.	.	.	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	P	0.45283	0.855	B	0.42625	0.393	T	0.33574	-0.9863	9	0.49607	T	0.09	.	7.9474	0.29995	0.0:0.0:0.7569:0.243	.	311	A3KFT3	OR2M5_HUMAN	V	311	ENSP00000355432:G311V	ENSP00000355432:G311V	G	+	2	0	OR2M5	246376004	0.012000	0.17670	0.004000	0.12327	0.023000	0.10783	-0.023000	0.12456	1.356000	0.45884	0.385000	0.25706	GGA		0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		6	40	1	0	0.00116845	0.001168	0.00130265	6	40				
OR2M2	391194	broad.mit.edu	37	1	248343360	248343360	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248343360A>T	ENST00000359682.2	+	1	73	c.73A>T	c.(73-75)Acg>Tcg	p.T25S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T25S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCACCACACACGTTCCTCTT	0.498																																							uc010pzf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(73-75)ACG>TCG		olfactory receptor, family 2, subfamily M,							255.0	247.0	250.0					1																	248343360		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343360A>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.73A>T	1.37:g.248343360A>T	ENSP00000352710:p.Thr25Ser						p.T25S	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	73	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		25			Extracellular (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.73A>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	4.883	0.164164	0.09287	.	.	ENSG00000198601	ENST00000359682	T	0.00424	7.45	1.44	1.44	0.22558	.	1.263570	0.06373	U	0.713836	T	0.00241	0.0007	N	0.20574	0.59	0.09310	N	1	B	0.28439	0.212	B	0.22601	0.04	T	0.26573	-1.0099	10	0.24483	T	0.36	.	3.2604	0.06846	0.7531:0.0:0.2469:0.0	.	25	Q96R28	OR2M2_HUMAN	S	25	ENSP00000352710:T25S	ENSP00000352710:T25S	T	+	1	0	OR2M2	246409983	0.000000	0.05858	0.024000	0.17045	0.151000	0.21798	-1.782000	0.01772	0.651000	0.30788	0.248000	0.18094	ACG		0.498	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		41	167	0	0	0	0.007835	0	41	167				
OR2M2	391194	broad.mit.edu	37	1	248343446	248343446	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248343446C>G	ENST00000359682.2	+	1	159	c.159C>G	c.(157-159)acC>acG	p.T53T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T53T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCTGGACACCCAGCTCCACA	0.537																																							uc010pzf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(157-159)ACC>ACG		olfactory receptor, family 2, subfamily M,							309.0	295.0	300.0					1																	248343446		2203	4298	6501	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343446C>G	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.159C>G	1.37:g.248343446C>G							p.T53T	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	159	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		53			Cytoplasmic (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.159C>G	CCDS31106.1																																																																																				0.537	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		31	245	0	0	0	0.003271	0	31	245				
OR2M4	26245	broad.mit.edu	37	1	248402423	248402423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248402423C>T	ENST00000306687.1	+	1	193	c.193C>T	c.(193-195)Caa>Taa	p.Q65*		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	65					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)	p.Q65*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTCCTCAGTCAACTGTCCCT	0.478																																							uc010pzh.1		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(2)	2						c.(193-195)CAA>TAA		olfactory receptor, family 2, subfamily M,							213.0	194.0	201.0					1																	248402423		2203	4300	6503	SO:0001587	stop_gained	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402423C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.193C>T	1.37:g.248402423C>T	ENSP00000306688:p.Gln65*						p.Q65*	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	193	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		65			Helical; Name=2; (Potential).		Q15611|Q8NG82	Nonsense_Mutation	SNP	ENST00000306687.1	37	c.193C>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	18.11	3.550103	0.65311	.	.	ENSG00000171180	ENST00000306687	.	.	.	3.08	3.08	0.35506	.	0.000000	0.39985	N	0.001202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5327	0.39205	0.2113:0.7887:0.0:0.0	.	.	.	.	X	65	.	ENSP00000306688:Q65X	Q	+	1	0	OR2M4	246469046	0.000000	0.05858	0.435000	0.26784	0.986000	0.74619	0.494000	0.22467	1.707000	0.51288	0.543000	0.68304	CAA		0.478	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		15	112	0	0	0	0.004007	0	15	112				
OR2T6	254879	broad.mit.edu	37	1	248551230	248551230	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248551230T>C	ENST00000355728.2	+	1	321	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F107F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATGGGCTTTATGGGGGCTG	0.557																																							uc001iei.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(319-321)TTT>TTC		olfactory receptor, family 2, subfamily T,							95.0	101.0	99.0					1																	248551230		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551230T>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.321T>C	1.37:g.248551230T>C							p.F107F	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	321	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		107			Helical; Name=3; (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.321T>C	CCDS31114.1																																																																																				0.557	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		15	70	0	0	0	0.003163	0	15	70				
OR2T1	26696	broad.mit.edu	37	1	248569919	248569919	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248569919C>A	ENST00000366474.1	+	1	624	c.624C>A	c.(622-624)ctC>ctA	p.L208L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L208L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGCTTCCTCCTAACCCCCA	0.532																																							uc010pzm.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(622-624)CTC>CTA		olfactory receptor, family 2, subfamily T,							102.0	97.0	99.0					1																	248569919		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569919C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.624C>A	1.37:g.248569919C>A							p.L208L	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	624	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		208			Helical; Name=4; (Potential).		Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.624C>A	CCDS31115.1																																																																																				0.532	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			9	53	1	0	1.12685e-05	0.004482	1.44938e-05	9	53				
OR2T1	26696	broad.mit.edu	37	1	248570181	248570181	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248570181A>C	ENST00000366474.1	+	1	886	c.886A>C	c.(886-888)Act>Cct	p.T296P		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T296P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCCACATGACTGTGGTGTC	0.517																																							uc010pzm.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(886-888)ACT>CCT		olfactory receptor, family 2, subfamily T,							240.0	197.0	211.0					1																	248570181		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570181A>C	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.886A>C	1.37:g.248570181A>C	ENSP00000355430:p.Thr296Pro						p.T296P	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	886	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		296			Helical; Name=6; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.886A>C	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	a	12.37	1.919055	0.33908	.	.	ENSG00000175143	ENST00000366474	T	0.39229	1.09	4.67	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.417167	0.17427	U	0.174612	T	0.68109	0.2965	H	0.95539	3.685	0.09310	N	1	P	0.45531	0.86	P	0.57009	0.811	T	0.62751	-0.6788	10	0.87932	D	0	.	9.6192	0.39710	0.9125:0.0:0.0875:0.0	.	296	O43869	OR2T1_HUMAN	P	296	ENSP00000355430:T296P	ENSP00000355430:T296P	T	+	1	0	OR2T1	246636804	0.000000	0.05858	0.300000	0.25030	0.403000	0.30841	0.004000	0.13106	1.951000	0.56629	0.533000	0.62120	ACT		0.517	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			19	85	0	0	0	0.008871	0	19	85				
OR2G6	391211	broad.mit.edu	37	1	248685080	248685080	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248685080C>A	ENST00000343414.4	+	1	165	c.133C>A	c.(133-135)Ctc>Atc	p.L45I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L45I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAACACTGCCCTCATACTAGT	0.468																																							uc001ien.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(133-135)CTC>ATC		olfactory receptor, family 2, subfamily G,							150.0	130.0	137.0					1																	248685080		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685080C>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.133C>A	1.37:g.248685080C>A	ENSP00000341291:p.Leu45Ile						p.L45I	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	133	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	45			Helical; Name=1; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.133C>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.215841	0.00289	.	.	ENSG00000188558	ENST00000343414	T	0.00408	7.54	3.83	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.153844	0.29972	N	0.010725	T	0.00073	0.0002	N	0.00193	-1.875	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	10	0.02654	T	1	.	9.807	0.40799	0.6707:0.3293:0.0:0.0	.	45	Q5TZ20	OR2G6_HUMAN	I	45	ENSP00000341291:L45I	ENSP00000341291:L45I	L	+	1	0	OR2G6	246751703	0.004000	0.15560	0.887000	0.34795	0.147000	0.21601	0.089000	0.15002	0.535000	0.28714	-0.736000	0.03550	CTC		0.468	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		12	68	1	0	0.00136819	0.001368	0.00152184	12	68				
OR2T11	127077	broad.mit.edu	37	1	248789791	248789791	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248789791A>T	ENST00000330803.2	-	1	700	c.639T>A	c.(637-639)acT>acA	p.T213T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T213T(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAGTAGGAAGTGGAGATGA	0.493																																							uc001ier.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(637-639)ACT>ACA		olfactory receptor, family 2, subfamily T,							70.0	73.0	72.0					1																	248789791		2048	4232	6280	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789791A>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.639T>A	1.37:g.248789791A>T							p.T213T	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	639	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		213			Helical; Name=5; (Potential).		Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.639T>A	CCDS31122.1																																																																																				0.493	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		8	41	0	0	0	0.004482	0	8	41				
IL15RA	3601	broad.mit.edu	37	10	5995118	5995118	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:5995118C>T	ENST00000379977.3	-	7	841	c.744G>A	c.(742-744)ccG>ccA	p.P248P	IL15RA_ENST00000525219.2_Silent_p.P212P|IL15RA_ENST00000397250.2_Silent_p.P150P|IL15RA_ENST00000528354.1_Silent_p.P215P|IL15RA_ENST00000379971.1_3'UTR|IL15RA_ENST00000397251.3_Silent_p.P183P|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397248.2_Silent_p.P212P			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	248					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.P248P(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCAAGTCACCGGCAGAGCCT	0.557																																							uc001iiv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(742-744)CCG>CCA		interleukin 15 receptor, alpha isoform 1							76.0	76.0	76.0					10																	5995118		2203	4300	6503	SO:0001819	synonymous_variant	3601				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	g.chr10:5995118C>T	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.744G>A	10.37:g.5995118C>T						IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Silent_p.P215P|IL15RA_uc001iiw.2_Silent_p.P212P|IL15RA_uc001iix.2_Silent_p.P179P|IL15RA_uc001iiy.2_Silent_p.P96P	p.P248P	NM_002189	NP_002180	Q13261	I15RA_HUMAN			7	826	-			248			Cytoplasmic (Potential).		B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Silent	SNP	ENST00000379977.3	37	c.744G>A	CCDS7074.1	.	.	.	.	.	.	.	.	.	.	C	5.125	0.208715	0.09757	.	.	ENSG00000134470	ENST00000532039	.	.	.	3.56	1.01	0.19927	.	.	.	.	.	T	0.51244	0.1663	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37430	-0.9706	4	.	.	.	-27.1786	5.1283	0.14896	0.0:0.2535:0.0:0.7465	.	.	.	.	Q	190	.	.	R	-	2	0	IL15RA	6035124	0.995000	0.38212	0.940000	0.37924	0.020000	0.10135	-0.039000	0.12124	0.242000	0.21303	-0.658000	0.03865	CGG		0.557	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189		6	30	0	0	0	0.001168	0	6	30				
ITIH5	80760	broad.mit.edu	37	10	7621752	7621752	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:7621752G>T	ENST00000256861.6	-	9	1462	c.1384C>A	c.(1384-1386)Cac>Aac	p.H462N	ITIH5_ENST00000397145.2_Missense_Mutation_p.H462N|ITIH5_ENST00000446830.2_Missense_Mutation_p.H244N|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.H462N|ITIH5_ENST00000298441.6_Missense_Mutation_p.H248N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	462	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H462N(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCCTCCTCGTGCACGCGCCGT	0.612																																							uc001ijq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(1384-1386)CAC>AAC		inter-alpha trypsin inhibitor heavy chain							99.0	91.0	94.0					10																	7621752		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621752G>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1384C>A	10.37:g.7621752G>T	ENSP00000256861:p.His462Asn					ITIH5_uc001ijp.2_Missense_Mutation_p.H248N|ITIH5_uc001ijr.1_Missense_Mutation_p.H462N	p.H462N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			9	1463	-			462			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1384C>A		.	.	.	.	.	.	.	.	.	.	G	12.51	1.958256	0.34565	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.2	5.2	0.72013	von Willebrand factor, type A (2);	0.393988	0.31092	N	0.008267	T	0.75953	0.3920	.	.	.	0.09310	N	1	B;B;B	0.17465	0.022;0.009;0.007	B;B;B	0.29942	0.109;0.011;0.006	T	0.68827	-0.5306	9	0.62326	D	0.03	-5.5451	18.7089	0.91649	0.0:0.0:1.0:0.0	.	462;462;248	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	N	462;462;248;244;462	ENSP00000256861:H462N;ENSP00000380333:H462N;ENSP00000298441:H248N;ENSP00000387969:H244N;ENSP00000380332:H462N	ENSP00000256861:H462N	H	-	1	0	ITIH5	7661758	0.663000	0.27448	0.004000	0.12327	0.073000	0.16967	3.988000	0.56951	2.422000	0.82143	0.462000	0.41574	CAC		0.612	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	49	1	0	0.00024832	0.009096	0.000292993	4	49				
ITIH5	80760	broad.mit.edu	37	10	7659155	7659155	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:7659155C>A	ENST00000256861.6	-	6	821	c.743G>T	c.(742-744)aGg>aTg	p.R248M	ITIH5_ENST00000397145.2_Missense_Mutation_p.R248M|ITIH5_ENST00000446830.2_Missense_Mutation_p.R30M|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R248M|ITIH5_ENST00000298441.6_Missense_Mutation_p.R34M	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	248					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R248M(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGGGCAATCCTGGCTTGTTG	0.403																																							uc001ijq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(742-744)AGG>ATG		inter-alpha trypsin inhibitor heavy chain							150.0	144.0	146.0					10																	7659155		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7659155C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.743G>T	10.37:g.7659155C>A	ENSP00000256861:p.Arg248Met					ITIH5_uc001ijp.2_Missense_Mutation_p.R34M|ITIH5_uc001ijr.1_Missense_Mutation_p.R248M	p.R248M	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			6	822	-			248					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.743G>T		.	.	.	.	.	.	.	.	.	.	C	15.31	2.795232	0.50208	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.02682	4.75;4.2;4.54;4.55;4.2	5.81	-2.39	0.06602	.	0.352839	0.31392	N	0.007732	T	0.04407	0.0121	.	.	.	0.20074	N	0.999938	B;P;P	0.45672	0.018;0.856;0.864	B;B;P	0.49226	0.176;0.398;0.603	T	0.18555	-1.0333	9	0.72032	D	0.01	-16.4049	6.9643	0.24615	0.0:0.3439:0.1171:0.5391	.	248;248;34	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	M	248;248;34;30;248	ENSP00000256861:R248M;ENSP00000380333:R248M;ENSP00000298441:R34M;ENSP00000387969:R30M;ENSP00000380332:R248M	ENSP00000256861:R248M	R	-	2	0	ITIH5	7699161	0.995000	0.38212	0.937000	0.37676	0.577000	0.36160	0.245000	0.18142	-0.696000	0.05098	-0.312000	0.09012	AGG		0.403	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		16	74	1	0	2.32078e-09	0.003163	3.57952e-09	16	74				
GATA3	2625	broad.mit.edu	37	10	8100386	8100386	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:8100386G>T	ENST00000346208.3	+	3	815	c.360G>T	c.(358-360)acG>acT	p.T120T	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.T120T			P23771	GATA3_HUMAN	GATA binding protein 3	120					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.T120T(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTCCAAGACGTCCATCCACC	0.697			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Substitution - coding silent(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(358-360)ACG>ACT		GATA binding protein 3 isoform 2							69.0	84.0	79.0					10																	8100386		2203	4299	6502	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100386G>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.360G>T	10.37:g.8100386G>T						GATA3_uc001ijz.2_Silent_p.T120T	p.T120T	NM_002051	NP_002042	P23771	GATA3_HUMAN			3	917	+			120					Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.360G>T	CCDS7083.1																																																																																				0.697	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		10	76	1	0	4.68919e-08	0.008291	6.87559e-08	10	76				
GATA3	2625	broad.mit.edu	37	10	8115980	8115980	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:8115980G>T	ENST00000346208.3	+	6	1781	c.1326G>T	c.(1324-1326)atG>atT	p.M442I	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.M443I			P23771	GATA3_HUMAN	GATA binding protein 3	442					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M443I(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCACCGCCATGGGTTAGAGCC	0.607			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		2	Substitution - Missense(2)		lung(2)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(1324-1326)ATG>ATT		GATA binding protein 3 isoform 2							70.0	58.0	62.0					10																	8115980		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115980G>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1326G>T	10.37:g.8115980G>T	ENSP00000341619:p.Met442Ile					GATA3_uc001ijz.2_Missense_Mutation_p.M443I	p.M442I	NM_002051	NP_002042	P23771	GATA3_HUMAN			6	1883	+			442					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1326G>T	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284587	0.59867	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96716	-4.1;-4.07	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	L	0.53249	1.67	0.80722	D	1	B;D	0.69078	0.131;0.997	B;D	0.79784	0.039;0.993	D	0.97596	1.0120	10	0.51188	T	0.08	-14.4418	19.5966	0.95541	0.0:0.0:1.0:0.0	.	442;443	P23771;P23771-2	GATA3_HUMAN;.	I	443;442	ENSP00000368632:M443I;ENSP00000341619:M442I	ENSP00000341619:M442I	M	+	3	0	GATA3	8155986	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	9.480000	0.97931	2.622000	0.88805	0.561000	0.74099	ATG		0.607	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		10	26	1	0	2.80697e-09	0.000978	4.31569e-09	10	26				
CUBN	8029	broad.mit.edu	37	10	16955835	16955835	+	Missense_Mutation	SNP	G	G	A	rs140983139	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:16955835G>A	ENST00000377833.4	-	48	7573	c.7508C>T	c.(7507-7509)cCg>cTg	p.P2503L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2503	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P2503L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGCAGGACGGATGCGTGGC	0.493																																							uc001ioo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7507-7509)CCG>CTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G	LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	145.0	130.0	135.0		7508	3.3	0.1	10	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CUBN	NM_001081.3	98	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	possibly-damaging	2503/3624	16955835	5,13001	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16955835G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7508C>T	10.37:g.16955835G>A	ENSP00000367064:p.Pro2503Leu						p.P2503L	NM_001081	NP_001072	O60494	CUBN_HUMAN			48	7560	-			2503			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7508C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403599	0.25291	9.08E-4	1.16E-4	ENSG00000107611	ENST00000377833	T	0.17854	2.25	5.41	3.33	0.38152	CUB (5);	0.321827	0.22638	N	0.057500	T	0.13543	0.0328	L	0.52011	1.625	0.20074	N	0.999933	B	0.33940	0.433	B	0.25291	0.059	T	0.16541	-1.0399	10	0.13108	T	0.6	.	13.2996	0.60317	0.0:0.0:0.5651:0.4348	.	2503	O60494	CUBN_HUMAN	L	2503	ENSP00000367064:P2503L	ENSP00000367064:P2503L	P	-	2	0	CUBN	16995841	0.108000	0.22018	0.062000	0.19696	0.004000	0.04260	1.083000	0.30815	1.266000	0.44231	0.585000	0.79938	CCG		0.493	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		29	67	0	0	0	0.003755	0	29	67				
MRC1	4360	broad.mit.edu	37	10	18138603	18138603	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:18138603G>T	ENST00000239761.3	+	7	1262	c.1159G>T	c.(1159-1161)Gct>Tct	p.A387S		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	387	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A387S(1)		breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCAGAGGGATGCTCTGACCAC	0.478																																					GBM(115;1153 1594 28187 28781 35884)	GBM(115;1153 1594 28187 28781 35884)	uc001ipm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)GCT>TCT		mannose receptor C type 1 precursor							56.0	63.0	61.0					10																	18138603		2173	3745	5918	SO:0001583	missense	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:18138603G>T	J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"""CD molecules"", ""C-type lectin domain containing"""	7228	protein-coding gene	gene with protein product		153618	"""mannose receptor, C type 1-like 1"""	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.1159G>T	10.37:g.18138603G>T	ENSP00000239761:p.Ala387Ser						p.A387S	NM_002438	NP_002429	P22897	MRC1_HUMAN			7	1262	+			387			Extracellular (Potential).|C-type lectin 2.		A5PKW3|Q5VSJ2|Q5VSK2	Missense_Mutation	SNP	ENST00000239761.3	37	c.1159G>T	CCDS7123.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113029	0.56398	.	.	ENSG00000120586	ENST00000239761	T	0.47869	0.83	4.35	4.35	0.52113	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.53938	U	0.000041	T	0.63355	0.2504	L	0.55103	1.725	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	T	0.65055	-0.6261	10	0.49607	T	0.09	-11.4673	15.0433	0.71807	0.0:0.0:1.0:0.0	.	387	P22897	MRC1_HUMAN	S	387	ENSP00000239761:A387S	ENSP00000239761:A387S	A	+	1	0	MRC1	18178609	1.000000	0.71417	0.743000	0.31040	0.188000	0.23474	8.290000	0.89925	1.980000	0.57719	0.430000	0.28490	GCT		0.478	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047057.1	NM_002438		19	38	1	0	1.00905e-13	0.008871	1.71632e-13	19	38				
SLC39A12	221074	broad.mit.edu	37	10	18270328	18270328	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:18270328C>A	ENST00000377369.2	+	6	1285	c.1012C>A	c.(1012-1014)Cca>Aca	p.P338T	SLC39A12_ENST00000377371.3_Missense_Mutation_p.P338T|SLC39A12_ENST00000377374.4_Missense_Mutation_p.P338T|SLC39A12_ENST00000539911.1_Missense_Mutation_p.P204T	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	338					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.P338T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCAAATGAGTCCAGGGATCAT	0.502																																							uc001ipo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1012-1014)CCA>ACA		solute carrier family 39 (zinc transporter),							75.0	69.0	71.0					10																	18270328		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18270328C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1012C>A	10.37:g.18270328C>A	ENSP00000366586:p.Pro338Thr					SLC39A12_uc001ipn.2_Missense_Mutation_p.P338T|SLC39A12_uc001ipp.2_Missense_Mutation_p.P338T|SLC39A12_uc010qck.1_Missense_Mutation_p.P204T	p.P338T	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			6	1285	+			338			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1012C>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405160	0.83230	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	D;D;D;D	0.84589	-1.67;-1.87;-1.71;-1.56	5.8	5.8	0.92144	.	0.097341	0.64402	D	0.000001	D	0.93086	0.7799	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93032	0.6449	10	0.66056	D	0.02	-19.9571	20.0608	0.97674	0.0:1.0:0.0:0.0	.	338;338;338	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	T	338;338;338;204;258	ENSP00000366586:P338T;ENSP00000366591:P338T;ENSP00000366588:P338T;ENSP00000440445:P204T	ENSP00000366586:P338T	P	+	1	0	SLC39A12	18310334	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.165000	0.77544	2.750000	0.94351	0.655000	0.94253	CCA		0.502	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		15	34	1	0	3.27435e-08	0.00245	4.82536e-08	15	34				
SLC39A12	221074	broad.mit.edu	37	10	18280127	18280127	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:18280127T>A	ENST00000377369.2	+	8	1590	c.1317T>A	c.(1315-1317)caT>caA	p.H439Q	SLC39A12_ENST00000377371.3_Missense_Mutation_p.H439Q|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H439Q|SLC39A12_ENST00000539911.1_Missense_Mutation_p.H305Q	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	439					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.H439Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGCATTTCCATGAAAGCAAAG	0.358																																							uc001ipo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1315-1317)CAT>CAA		solute carrier family 39 (zinc transporter),							89.0	94.0	92.0					10																	18280127		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18280127T>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1317T>A	10.37:g.18280127T>A	ENSP00000366586:p.His439Gln					SLC39A12_uc001ipn.2_Missense_Mutation_p.H439Q|SLC39A12_uc001ipp.2_Missense_Mutation_p.H439Q|SLC39A12_uc010qck.1_Missense_Mutation_p.H305Q	p.H439Q	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			8	1590	+			439			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1317T>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116527	0.37339	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.88	3.49	0.39957	.	0.392722	0.30695	N	0.009071	T	0.39759	0.1090	L	0.43152	1.355	0.40521	D	0.980834	B;B;B	0.23128	0.08;0.056;0.045	B;B;B	0.27170	0.031;0.077;0.031	T	0.16867	-1.0388	10	0.35671	T	0.21	-7.7292	10.6669	0.45736	0.0:0.1312:0.0:0.8688	.	439;439;439	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	Q	439;439;439;305;359	ENSP00000366586:H439Q;ENSP00000366591:H439Q;ENSP00000366588:H439Q;ENSP00000440445:H305Q	ENSP00000366586:H439Q	H	+	3	2	SLC39A12	18320133	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	1.461000	0.35255	0.462000	0.27095	-0.296000	0.09543	CAT		0.358	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		5	60	0	0	0	0.000602	0	5	60				
SPAG6	9576	broad.mit.edu	37	10	22678165	22678165	+	Missense_Mutation	SNP	G	G	T	rs573352808	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:22678165G>T	ENST00000376624.3	+	7	1071	c.929G>T	c.(928-930)cGg>cTg	p.R310L	SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.R310L|SPAG6_ENST00000376603.2_Missense_Mutation_p.R386L|SPAG6_ENST00000538630.1_Missense_Mutation_p.R285L|RP11-301N24.3_ENST00000422675.1_RNA	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	310					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R310L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GGGAACACACGGCTGCCTGGC	0.483																																							uc001iri.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(928-930)CGG>CTG		sperm associated antigen 6 isoform 1							189.0	158.0	169.0					10																	22678165		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22678165G>T	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.929G>T	10.37:g.22678165G>T	ENSP00000365811:p.Arg310Leu					SPAG6_uc001irj.2_Missense_Mutation_p.R310L|SPAG6_uc010qct.1_Missense_Mutation_p.R280L|SPAG6_uc009xkh.2_Missense_Mutation_p.R288L	p.R310L	NM_012443	NP_036575	O75602	SPAG6_HUMAN			7	1071	+			310					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.929G>T	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500682	0.64298	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.6	3.71	0.42584	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.80183	2.485	0.54753	D	0.999985	B;B;B;B	0.32753	0.112;0.208;0.383;0.212	B;B;B;B	0.33799	0.082;0.152;0.17;0.11	T	0.69537	-0.5119	10	0.35671	T	0.21	-16.1145	10.7664	0.46297	0.0683:0.0:0.8007:0.131	.	285;386;310;310	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	L	310;386;285;310	ENSP00000365811:R310L;ENSP00000365788:R386L;ENSP00000441325:R285L;ENSP00000323599:R310L	ENSP00000323599:R310L	R	+	2	0	SPAG6	22718171	1.000000	0.71417	0.339000	0.25562	0.971000	0.66376	6.244000	0.72391	0.688000	0.31529	0.650000	0.86243	CGG		0.483	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			9	35	1	0	1.12685e-05	0.004482	1.44938e-05	9	35				
ARHGAP21	57584	broad.mit.edu	37	10	24874021	24874021	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:24874021C>A	ENST00000396432.2	-	26	5683	c.5197G>T	c.(5197-5199)Gtg>Ttg	p.V1733L		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1732	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.V1732L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACATCAAACACTTTAGTTAAC	0.403																																							uc001isb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)	8						c.(5197-5199)GTG>TTG		Rho GTPase activating protein 21							112.0	114.0	114.0					10																	24874021		2202	4299	6501	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874021C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5197G>T	10.37:g.24874021C>A	ENSP00000379709:p.Val1733Leu					ARHGAP21_uc010qdb.1_RNA	p.V1733L	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			26	5684	-			1732			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.5197G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363022	0.24684	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.11712	2.75	5.07	3.18	0.36537	.	0.317587	0.34133	N	0.004231	T	0.10766	0.0263	L	0.59436	1.845	0.80722	D	1	B	0.16396	0.017	B	0.14023	0.01	T	0.07501	-1.0769	10	0.38643	T	0.18	.	6.8786	0.24160	0.0:0.672:0.0:0.328	.	1732	Q5T5U3	RHG21_HUMAN	L	1733;1182	ENSP00000379709:V1733L	ENSP00000379709:V1733L	V	-	1	0	ARHGAP21	24914027	0.976000	0.34144	0.221000	0.23827	0.515000	0.34225	2.272000	0.43373	1.082000	0.41137	0.591000	0.81541	GTG		0.403	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		22	117	1	0	5.45024e-15	0.00333	9.45834e-15	22	117				
MYO3A	53904	broad.mit.edu	37	10	26310512	26310512	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:26310512G>T	ENST00000265944.5	+	8	832	c.666G>T	c.(664-666)gaG>gaT	p.E222D	MYO3A_ENST00000376302.1_Missense_Mutation_p.E222D|MYO3A_ENST00000543632.1_Missense_Mutation_p.E222D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E222D(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGGCCATTGAGCTGGGTGATG	0.483																																							uc001isn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(664-666)GAG>GAT		myosin IIIA							189.0	156.0	167.0					10																	26310512		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26310512G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.666G>T	10.37:g.26310512G>T	ENSP00000265944:p.Glu222Asp					MYO3A_uc009xko.1_Missense_Mutation_p.E222D|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.E222D|MYO3A_uc001ism.2_Missense_Mutation_p.E222D	p.E222D	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			8	1026	+			222			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.666G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307684	0.81247	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632	T;T;T	0.70399	-0.48;-0.48;-0.48	6.03	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;1.0;0.999	D;D;D;D	0.97110	0.988;0.992;1.0;0.997	D	0.88509	0.3088	10	0.87932	D	0	.	11.7883	0.52055	0.1915:0.0:0.8085:0.0	.	222;222;222;222	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	D	222	ENSP00000265944:E222D;ENSP00000365479:E222D;ENSP00000445909:E222D	ENSP00000265944:E222D	E	+	3	2	MYO3A	26350518	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.013000	0.49582	1.530000	0.49136	0.655000	0.94253	GAG		0.483	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		19	52	1	0	1.00905e-13	0.008871	1.71632e-13	19	52				
MYO3A	53904	broad.mit.edu	37	10	26359099	26359099	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:26359099G>T	ENST00000265944.5	+	13	1396	c.1230G>T	c.(1228-1230)atG>atT	p.M410I	MYO3A_ENST00000543632.1_Missense_Mutation_p.M410I	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	410	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M410I(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTTTTGCAATGGCTGACTTAG	0.328																																							uc001isn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1228-1230)ATG>ATT		myosin IIIA							68.0	69.0	69.0					10																	26359099		2202	4300	6502	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26359099G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1230G>T	10.37:g.26359099G>T	ENSP00000265944:p.Met410Ile					MYO3A_uc009xko.1_Missense_Mutation_p.M410I|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.M410I	p.M410I	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			13	1590	+			410			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1230G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603876	0.28534	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	D;D	0.83914	-1.78;-1.78	5.79	3.78	0.43462	Myosin head, motor domain (2);	0.304232	0.40908	D	0.000991	T	0.48169	0.1485	N	0.00059	-2.345	0.39400	D	0.966563	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.11329	0.001;0.002;0.006	T	0.52457	-0.8573	10	0.25106	T	0.35	.	14.5082	0.67767	0.0:0.0:0.641:0.359	.	410;410;410	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	I	410	ENSP00000265944:M410I;ENSP00000445909:M410I	ENSP00000265944:M410I	M	+	3	0	MYO3A	26399105	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.714000	0.25808	1.378000	0.46305	0.650000	0.86243	ATG		0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	40	1	0	5.18039e-06	0.00308	6.82593e-06	8	40				
MYO3A	53904	broad.mit.edu	37	10	26457730	26457730	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:26457730A>T	ENST00000265944.5	+	28	3367	c.3201A>T	c.(3199-3201)agA>agT	p.R1067S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1067	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1067S(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTGTGTCAGAGCATTCTTGT	0.333																																							uc001isn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(3199-3201)AGA>AGT		myosin IIIA							124.0	125.0	125.0					10																	26457730		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26457730A>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3201A>T	10.37:g.26457730A>T	ENSP00000265944:p.Arg1067Ser					MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.R1067S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			28	3561	+			1067			IQ 1.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3201A>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426601	0.83667	.	.	ENSG00000095777	ENST00000265944	D	0.84442	-1.85	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.90392	0.4396	10	0.87932	D	0	.	10.4884	0.44735	0.9274:0.0:0.0726:0.0	.	1067	Q8NEV4	MYO3A_HUMAN	S	1067	ENSP00000265944:R1067S	ENSP00000265944:R1067S	R	+	3	2	MYO3A	26497736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.803000	0.47924	2.258000	0.74832	0.533000	0.62120	AGA		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		6	49	0	0	0	0.001168	0	6	49				
ANKRD26	22852	broad.mit.edu	37	10	27303640	27303640	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:27303640C>A	ENST00000376087.4	-	31	4672	c.4507G>T	c.(4507-4509)Gca>Tca	p.A1503S	ANKRD26_ENST00000436985.2_Splice_Site_p.A1519S|ANKRD26_ENST00000376070.3_Splice_Site_p.A1060S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1502					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.A1503S(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCTGCTTGTGCCTAAAACAAA	0.343																																							uc001ith.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(4504-4506)GCA>TCA		ankyrin repeat domain 26							44.0	39.0	41.0					10																	27303640		1840	4101	5941	SO:0001630	splice_region_variant	22852					centrosome		g.chr10:27303640C>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4507-1G>T	10.37:g.27303640C>A						ANKRD26_uc001itg.2_Missense_Mutation_p.A1189S|ANKRD26_uc009xku.1_Missense_Mutation_p.A1503S	p.A1502S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			31	4676	-			1502					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.4504G>T	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	8.020	0.759384	0.15846	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.28255	4.09;1.62;1.62	5.27	-2.05	0.07321	.	0.587214	0.14853	N	0.294575	T	0.13114	0.0318	N	0.14661	0.345	0.26201	N	0.979443	B;B;B	0.30406	0.047;0.028;0.278	B;B;B	0.27887	0.037;0.016;0.084	T	0.25433	-1.0132	9	.	.	.	.	6.5411	0.22380	0.1357:0.5171:0.0:0.3472	.	1503;1502;1519	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	S	1060;1503;1519	ENSP00000365238:A1060S;ENSP00000365255:A1503S;ENSP00000405112:A1519S	.	A	-	1	0	ANKRD26	27343646	0.930000	0.31532	0.161000	0.22692	0.738000	0.42128	-0.181000	0.09740	-0.659000	0.05359	0.313000	0.20887	GCA		0.343	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		Missense_Mutation	8	18	1	0	0.00307968	0.00308	0.0033563	8	18				
MTPAP	55149	broad.mit.edu	37	10	30611320	30611320	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:30611320C>A	ENST00000263063.4	-	6	1262	c.1219G>T	c.(1219-1221)Gat>Tat	p.D407Y	MTPAP_ENST00000358107.4_Splice_Site_p.D537Y|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	407					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.D537Y(1)|p.D407Y(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTAGTCTTACCTGCTAGGGTT	0.343																																							uc001iva.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1219-1221)GAT>TAT		PAP associated domain containing 1 precursor							77.0	80.0	79.0					10																	30611320		2203	4300	6503	SO:0001630	splice_region_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30611320C>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1219+1G>T	10.37:g.30611320C>A						MTPAP_uc001ivb.3_Missense_Mutation_p.D537Y	p.D407Y	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			6	1282	-			407					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1219G>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470141	0.63625	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.34667	2.1;1.35	5.44	4.52	0.55395	.	0.385839	0.29493	N	0.011987	T	0.57799	0.2078	M	0.70595	2.14	0.58432	D	0.999998	D;P	0.89917	1.0;0.835	D;P	0.70487	0.969;0.45	T	0.59789	-0.7388	9	.	.	.	-11.42	14.7887	0.69824	0.0:0.9292:0.0:0.0708	.	537;407	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	Y	537;407	ENSP00000350820:D537Y;ENSP00000263063:D407Y	.	D	-	1	0	MTPAP	30651326	1.000000	0.71417	0.999000	0.59377	0.571000	0.35966	5.715000	0.68430	1.403000	0.46800	0.453000	0.30009	GAT		0.343	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109	Missense_Mutation	7	34	1	0	1.12685e-05	0.004482	1.44938e-05	7	34				
HNRNPF	3185	broad.mit.edu	37	10	43882617	43882617	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:43882617C>A	ENST00000544000.1	-	4	1123	c.716G>T	c.(715-717)gGc>gTc	p.G239V	HNRNPF_ENST00000443950.2_Missense_Mutation_p.G239V|HNRNPF_ENST00000356053.3_Missense_Mutation_p.G239V|HNRNPF_ENST00000357065.4_Missense_Mutation_p.G239V|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Missense_Mutation_p.G239V	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	239					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.G239V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GCCCCCGTAGCCTGTGCTGTA	0.617																																							uc009xmh.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(715-717)GGC>GTC		heterogeneous nuclear ribonucleoprotein F							67.0	65.0	65.0					10																	43882617		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882617C>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.716G>T	10.37:g.43882617C>A	ENSP00000438061:p.Gly239Val					HNRNPF_uc001jar.2_Missense_Mutation_p.G239V|HNRNPF_uc001jas.2_Missense_Mutation_p.G239V|HNRNPF_uc001jat.2_Missense_Mutation_p.G239V|HNRNPF_uc001jav.2_Missense_Mutation_p.G239V|HNRNPF_uc001jau.2_Missense_Mutation_p.G239V|uc010qfa.1_Missense_Mutation_p.A100D	p.G239V	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN			3	1203	-			239					B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.716G>T	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	5.633	0.301464	0.10678	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69	4.38	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	M	0.70595	2.14	0.80722	D	1	P	0.51933	0.949	P	0.46885	0.53	T	0.04565	-1.0942	10	0.49607	T	0.09	-27.4184	12.6315	0.56659	0.0:0.8317:0.1683:0.0	.	239	P52597	HNRPF_HUMAN	V	239;239;239;239;239;162	ENSP00000438061:G239V;ENSP00000400433:G239V;ENSP00000348345:G239V;ENSP00000349573:G239V;ENSP00000338477:G239V	ENSP00000338477:G239V	G	-	2	0	HNRNPF	43202623	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	4.871000	0.63042	1.419000	0.47118	0.655000	0.94253	GGC		0.617	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			9	33	1	0	0.000274275	0.004482	0.000319476	9	33				
SYT15	83849	broad.mit.edu	37	10	46962009	46962009	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:46962009C>T	ENST00000374321.4	-	8	1293	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V	SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374323.4_Silent_p.V462V	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	409						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V409V(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCCAGCGCTTCACCAGCTCCT	0.667																																					Ovarian(57;1152 1428 19651 37745)	Ovarian(57;1152 1428 19651 37745)	uc001jea.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1225-1227)GTG>GTA		synaptotagmin XV isoform a							48.0	59.0	55.0					10																	46962009		2087	4216	6303	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46962009C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1227G>A	10.37:g.46962009C>T						SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.2_Silent_p.V287V|SYT15_uc010qfp.1_RNA	p.V409V	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			8	1380	-			409			Cytoplasmic (Potential).		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.1227G>A	CCDS44376.1																																																																																				0.667	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		9	64	0	0	0	0.008291	0	9	64				
PCDH15	65217	broad.mit.edu	37	10	55570360	55570360	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:55570360C>A	ENST00000373965.2	-	35	4853	c.4459G>T	c.(4459-4461)Ggt>Tgt	p.G1487C	PCDH15_ENST00000395438.1_Missense_Mutation_p.M1503I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.M1114I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1484C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1487C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G1484C(1)|p.M1503I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCACCTCACCATATTCCTCC	0.363										HNSCC(58;0.16)																													uc010qhs.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4474-4476)GGT>TGT		protocadherin 15 isoform CD2-1 precursor							181.0	167.0	171.0					10																	55570360		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55570360C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4459G>T	10.37:g.55570360C>A	ENSP00000363076:p.Gly1487Cys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.G1485C|PCDH15_uc010qhr.1_Missense_Mutation_p.G1480C|PCDH15_uc010qht.1_Missense_Mutation_p.G1485C|PCDH15_uc010qhu.1_Missense_Mutation_p.M1503I	p.G1492C	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			36	4869	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4474G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.71|18.71	3.681384|3.681384	0.68042|0.68042	.|.	.|.	ENSG00000150275|ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395445|ENST00000395438;ENST00000409834	T;T;T|T;T	0.76968|0.55052	-1.06;-0.87;-0.74|0.56;0.54	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|.	.|.	.|.	.|.	T|T	0.48429|0.48429	0.1499|0.1499	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;D;D;D|B	0.89917|0.12630	1.0;1.0;1.0;1.0|0.006	D;D;D;D|B	0.97110|0.14023	1.0;1.0;1.0;1.0|0.01	T|T	0.24870|0.24870	-1.0148|-1.0148	9|9	0.72032|0.33141	D|T	0.01|0.24	.|.	19.6313|19.6313	0.95704|0.95704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1485;1487;1478;1484|1503	C6ZEF5;A2A3E2;C6ZEF7;C9J4F3|A2A3E3	.;.;.;.|.	C|I	1487;1484;1480;1487|1503;1114	ENSP00000363076:G1487C;ENSP00000410304:G1484C;ENSP00000378832:G1487C|ENSP00000378826:M1503I;ENSP00000386693:M1114I	ENSP00000363076:G1487C|ENSP00000378826:M1503I	G|M	-|-	1|3	0|0	PCDH15|PCDH15	55240366|55240366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	6.440000|6.440000	0.73435|0.73435	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|ATG		0.363	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		18	71	1	0	1.67942e-08	0.006122	2.5105e-08	18	71				
PCDH15	65217	broad.mit.edu	37	10	56138669	56138669	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:56138669C>A	ENST00000320301.6	-	4	585	c.191G>T	c.(190-192)gGg>gTg	p.G64V	PCDH15_ENST00000395438.1_Missense_Mutation_p.G64V|PCDH15_ENST00000373957.3_Missense_Mutation_p.G42V|PCDH15_ENST00000373955.1_Missense_Mutation_p.G64V|PCDH15_ENST00000437009.1_Missense_Mutation_p.G64V|PCDH15_ENST00000395446.1_Missense_Mutation_p.G64V|PCDH15_ENST00000395430.1_Missense_Mutation_p.G64V|PCDH15_ENST00000361849.3_Missense_Mutation_p.G64V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G42V|PCDH15_ENST00000395440.1_Missense_Mutation_p.G64V|PCDH15_ENST00000414778.1_Missense_Mutation_p.G69V|PCDH15_ENST00000395432.2_Missense_Mutation_p.G64V|PCDH15_ENST00000395442.1_Missense_Mutation_p.G64V|PCDH15_ENST00000395445.1_Missense_Mutation_p.G64V|PCDH15_ENST00000373965.2_Missense_Mutation_p.G64V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	64	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G64V(3)|p.G69V(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCAGCAGTCCCTTTGATCAG	0.403										HNSCC(58;0.16)																													uc001jju.1		NA																	5	Substitution - Missense(5)		lung(5)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(190-192)GGG>GTG		protocadherin 15 isoform CD1-4 precursor							158.0	163.0	162.0					10																	56138669		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138669C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.191G>T	10.37:g.56138669C>A	ENSP00000322604:p.Gly64Val	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.G69V|PCDH15_uc010qhr.1_Missense_Mutation_p.G64V|PCDH15_uc010qhs.1_Missense_Mutation_p.G69V|PCDH15_uc010qht.1_Missense_Mutation_p.G64V|PCDH15_uc010qhu.1_Missense_Mutation_p.G64V|PCDH15_uc001jjv.1_Missense_Mutation_p.G42V|PCDH15_uc010qhv.1_Missense_Mutation_p.G64V|PCDH15_uc010qhw.1_Missense_Mutation_p.G64V|PCDH15_uc010qhx.1_Missense_Mutation_p.G64V|PCDH15_uc010qhy.1_Missense_Mutation_p.G69V|PCDH15_uc010qhz.1_Missense_Mutation_p.G64V|PCDH15_uc010qia.1_Missense_Mutation_p.G42V|PCDH15_uc010qib.1_Missense_Mutation_p.G42V|PCDH15_uc001jjw.2_Missense_Mutation_p.G64V	p.G64V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			4	586	-		Melanoma(3;0.117)|Lung SC(717;0.238)	64			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.191G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928189	0.92389	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71461	-0.06;0.0;-0.31;-0.14;0.08;0.62;0.49;-0.49;-0.54;0.09;0.22;-0.56;-0.57;-0.32;-0.09;-0.36	5.3	5.3	0.74995	Cadherin (1);	.	.	.	.	T	0.79082	0.4386	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.996;0.998;0.998;1.0;0.996;1.0;1.0;1.0;0.996;1.0;1.0;1.0;1.0;0.999	T	0.79790	-0.1655	9	0.52906	T	0.07	.	18.5421	0.91031	0.0:1.0:0.0:0.0	.	42;64;64;69;64;64;64;64;64;64;64;69;64;42;64	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	64;69;64;64;64;64;64;64;64;64;42;42;64;64;69;64;64;64	ENSP00000363076:G64V;ENSP00000410304:G69V;ENSP00000378826:G64V;ENSP00000378832:G64V;ENSP00000378833:G64V;ENSP00000378829:G64V;ENSP00000378827:G64V;ENSP00000378820:G64V;ENSP00000354950:G64V;ENSP00000378821:G42V;ENSP00000363068:G42V;ENSP00000322604:G64V;ENSP00000378818:G64V;ENSP00000412628:G64V;ENSP00000363066:G64V;ENSP00000394465:G64V	ENSP00000322604:G64V	G	-	2	0	PCDH15	55808675	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.805000	0.86005	2.504000	0.84457	0.643000	0.83706	GGG		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		44	121	1	0	8.04919e-23	0.00361	1.49676e-22	44	121				
BICC1	80114	broad.mit.edu	37	10	60558294	60558294	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:60558294C>T	ENST00000373886.3	+	11	1506	c.1502C>T	c.(1501-1503)cCa>cTa	p.P501L	BICC1_ENST00000263103.1_Missense_Mutation_p.P127L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	501					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.P501L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGGGCACCCCCACTTGCTAAT	0.403																																							uc001jki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1501-1503)CCA>CTA		bicaudal C homolog 1							126.0	118.0	121.0					10																	60558294		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60558294C>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1502C>T	10.37:g.60558294C>T	ENSP00000362993:p.Pro501Leu					BICC1_uc001jkj.1_Missense_Mutation_p.P142L	p.P501L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			11	1502	+			501						Missense_Mutation	SNP	ENST00000373886.3	37	c.1502C>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748368	0.69533	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.47528	1.73;0.84	5.99	5.99	0.97316	.	0.156649	0.64402	D	0.000016	T	0.47801	0.1465	L	0.36672	1.1	0.50632	D	0.99988	P;P	0.46706	0.883;0.546	B;B	0.44224	0.444;0.101	T	0.48269	-0.9050	10	0.72032	D	0.01	-7.4995	20.4777	0.99188	0.0:1.0:0.0:0.0	.	421;501	E7EU62;Q9H694	.;BICC1_HUMAN	L	501;127	ENSP00000362993:P501L;ENSP00000263103:P127L	ENSP00000263103:P127L	P	+	2	0	BICC1	60228300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.521000	0.73778	2.840000	0.97914	0.655000	0.94253	CCA		0.403	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		9	72	0	0	0	0.004482	0	9	72				
ANK3	288	broad.mit.edu	37	10	61835269	61835269	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:61835269C>A	ENST00000280772.2	-	37	5561	c.5370G>T	c.(5368-5370)caG>caT	p.Q1790H	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1790	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q1790H(1)|p.Q1790Q(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTAGAGACTGAAAAGCTG	0.453																																							uc001jky.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(5368-5370)CAG>CAT		ankyrin 3 isoform 1							111.0	119.0	116.0					10																	61835269		2203	4299	6502	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835269C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5370G>T	10.37:g.61835269C>A	ENSP00000280772:p.Gln1790His					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.Q1790H	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	5562	-			1790			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5370G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664137	0.29604	.	.	ENSG00000151150	ENST00000280772	T	0.67523	-0.27	5.33	4.42	0.53409	.	0.186926	0.26159	N	0.025994	T	0.69260	0.3091	L	0.56769	1.78	0.80722	D	1	P	0.48503	0.911	P	0.48901	0.594	T	0.73984	-0.3810	10	0.87932	D	0	.	13.4546	0.61191	0.0:0.9248:0.0:0.0752	.	1790	Q12955	ANK3_HUMAN	H	1790	ENSP00000280772:Q1790H	ENSP00000280772:Q1790H	Q	-	3	2	ANK3	61505275	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.340000	0.65958	2.533000	0.85409	0.461000	0.40582	CAG		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		9	34	1	0	3.09899e-07	0.004482	4.35533e-07	9	34				
ZNF365	22891	broad.mit.edu	37	10	64159473	64159473	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:64159473G>T	ENST00000395254.3	+	5	1429	c.1149G>T	c.(1147-1149)ctG>ctT	p.L383L	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.L383L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGAGCTCCTGGGGTTTGGCC	0.532																																							uc001jly.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1192-1194)CTG>CTT		zinc finger protein 365 isoform A							61.0	61.0	61.0					10																	64159473		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64159473G>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1149G>T	10.37:g.64159473G>T						ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Silent_p.L383L|ZNF365_uc001jma.3_RNA	p.L398L	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN			5	1256	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		Error:Variant_position_missing_in_Q70YC4_after_alignment						Silent	SNP	ENST00000395254.3	37	c.1194G>T	CCDS31209.1																																																																																				0.532	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		8	35	1	0	5.18039e-06	0.00308	6.82593e-06	8	35				
DLG5	9231	broad.mit.edu	37	10	79593690	79593690	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:79593690C>G	ENST00000372391.2	-	9	1735	c.1730G>C	c.(1729-1731)cGc>cCc	p.R577P	DLG5_ENST00000372388.2_Missense_Mutation_p.R577P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	577					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.R577P(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTTCAGCTCGCGGCTGACATC	0.657																																							uc001jzk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(3)	8						c.(1729-1731)CGC>CCC		discs large homolog 5							59.0	51.0	54.0					10																	79593690		2201	4300	6501	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79593690C>G	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1730G>C	10.37:g.79593690C>G	ENSP00000361467:p.Arg577Pro					DLG5_uc001jzj.2_Missense_Mutation_p.R332P|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.R181P	p.R577P	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		9	1800	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		577					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1730G>C	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328706	0.81690	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04917	3.53;3.58	5.67	5.67	0.87782	.	0.218757	0.23510	N	0.047409	T	0.21801	0.0525	L	0.47716	1.5	0.42764	D	0.993811	D;D;D	0.89917	1.0;1.0;0.978	D;D;P	0.97110	1.0;0.999;0.823	T	0.00099	-1.2067	10	0.54805	T	0.06	.	19.7629	0.96329	0.0:1.0:0.0:0.0	.	467;577;577	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	P	577	ENSP00000361467:R577P;ENSP00000361464:R577P	ENSP00000361464:R577P	R	-	2	0	DLG5	79263696	1.000000	0.71417	0.998000	0.56505	0.530000	0.34684	7.487000	0.81328	2.666000	0.90696	0.561000	0.74099	CGC		0.657	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			9	43	0	0	0	0.004482	0	9	43				
POLR3A	11128	broad.mit.edu	37	10	79743987	79743987	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:79743987T>A	ENST00000372371.3	-	25	3449	c.3312A>T	c.(3310-3312)agA>agT	p.R1104S		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1104					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.R1104S(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTTCTCAATTCTCCCTTTCA	0.438																																							uc001jzn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3310-3312)AGA>AGT		polymerase (RNA) III (DNA directed) polypeptide							106.0	96.0	99.0					10																	79743987		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79743987T>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3312A>T	10.37:g.79743987T>A	ENSP00000361446:p.Arg1104Ser						p.R1104S	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		25	3406	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1104					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.3312A>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512489	0.85389	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.76968	-1.06	5.71	-5.26	0.02772	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	T	0.78150	-0.2316	9	.	.	.	-25.9748	10.0082	0.41970	0.0:0.4421:0.0981:0.4598	.	1104	O14802	RPC1_HUMAN	S	1104;1083	ENSP00000361446:R1104S	.	R	-	3	2	POLR3A	79413993	0.438000	0.25602	0.982000	0.44146	0.916000	0.54674	-0.311000	0.08124	-0.486000	0.06744	-0.297000	0.09499	AGA		0.438	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		9	71	0	0	0	0.006214	0	9	71				
IFIT1B	439996	broad.mit.edu	37	10	91143375	91143375	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:91143375C>G	ENST00000371809.3	+	2	385	c.305C>G	c.(304-306)gCc>gGc	p.A102G	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	102								p.A102G(1)		endometrium(2)|large_intestine(3)|lung(8)	13						GGCAACTTTGCCTGGGTGTAT	0.478																																							uc001kgh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GCC>GGC		interferon-induced protein with							60.0	62.0	61.0					10																	91143375		2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91143375C>G		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.305C>G	10.37:g.91143375C>G	ENSP00000360874:p.Ala102Gly					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	p.A102G	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN			2	385	+			102			TPR 2.		A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.305C>G	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453752	0.84209	.	.	ENSG00000204010	ENST00000371809	T	0.60672	0.17	4.61	4.61	0.57282	Tetratricopeptide-like helical (1);	0.000000	0.85682	U	0.000000	T	0.80423	0.4620	M	0.92923	3.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82055	-0.0647	10	0.25106	T	0.35	.	16.4419	0.83903	0.0:1.0:0.0:0.0	.	102	Q5T764	IFT1B_HUMAN	G	102	ENSP00000360874:A102G	ENSP00000360874:A102G	A	+	2	0	IFIT1B	91133355	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.850000	0.75420	2.098000	0.63641	0.557000	0.71058	GCC		0.478	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		10	61	0	0	0	0.008291	0	10	61				
KIF20B	9585	broad.mit.edu	37	10	91476254	91476254	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:91476254A>G	ENST00000371728.3	+	9	1067	c.1002A>G	c.(1000-1002)atA>atG	p.I334M	KIF20B_ENST00000416354.1_Missense_Mutation_p.I334M|KIF20B_ENST00000260753.4_Missense_Mutation_p.I334M|KIF20B_ENST00000394289.2_Missense_Mutation_p.I334M	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	334	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.I334M(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AACTAGGAATAAAGCACCAGA	0.308																																							uc001kgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1000-1002)ATA>ATG		M-phase phosphoprotein 1							30.0	32.0	31.0					10																	91476254		2202	4296	6498	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91476254A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1002A>G	10.37:g.91476254A>G	ENSP00000360793:p.Ile334Met					KIF20B_uc001kgr.1_Missense_Mutation_p.I334M	p.I334M	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			9	1074	+			334			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.1002A>G		.	.	.	.	.	.	.	.	.	.	A	15.96	2.986512	0.53934	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.21	2.85	0.33270	Kinesin, motor domain (4);	0.440471	0.20128	N	0.098652	T	0.55816	0.1944	N	0.05158	-0.105	0.26754	N	0.970141	P;B	0.52061	0.95;0.108	P;B	0.48227	0.571;0.019	T	0.49916	-0.8888	10	0.49607	T	0.09	-4.0518	6.0692	0.19879	0.5997:0.0:0.4003:0.0	.	334;334	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	M	334	ENSP00000260753:I334M;ENSP00000411545:I334M;ENSP00000377830:I334M;ENSP00000360793:I334M	ENSP00000260753:I334M	I	+	3	3	KIF20B	91466234	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.741000	0.38238	0.943000	0.37553	0.482000	0.46254	ATA		0.308	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		4	17	0	0	0	0.000602	0	4	17				
KIF11	3832	broad.mit.edu	37	10	94389969	94389969	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:94389969G>A	ENST00000260731.3	+	12	1432	c.1342G>A	c.(1342-1344)Gac>Aac	p.D448N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	448					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.D448N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAATGAACTTGACCAGTGTAA	0.299																																					Colon(47;212 1003 2764 4062 8431)	Colon(47;212 1003 2764 4062 8431)	uc001kic.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1342-1344)GAC>AAC		kinesin family member 11							52.0	52.0	52.0					10																	94389969		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94389969G>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1342G>A	10.37:g.94389969G>A	ENSP00000260731:p.Asp448Asn					KIF11_uc010qnq.1_Intron	p.D448N	NM_004523	NP_004514	P52732	KIF11_HUMAN			12	1650	+			448			Potential.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.1342G>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	g	14.28	2.489336	0.44249	.	.	ENSG00000138160	ENST00000260731	T	0.72942	-0.7	5.82	2.9	0.33743	.	0.368221	0.29218	N	0.012781	T	0.45955	0.1368	N	0.08118	0	0.34953	D	0.751418	B	0.02656	0.0	B	0.06405	0.002	T	0.39800	-0.9596	10	0.33940	T	0.23	.	7.1214	0.25446	0.2018:0.0:0.6755:0.1227	.	448	P52732	KIF11_HUMAN	N	448	ENSP00000260731:D448N	ENSP00000260731:D448N	D	+	1	0	KIF11	94379949	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.739000	0.38217	0.343000	0.23821	0.650000	0.86243	GAC		0.299	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		4	19	0	0	0	0.009096	0	4	19				
CYP2C19	1557	broad.mit.edu	37	10	96602702	96602702	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:96602702G>T	ENST00000371321.3	+	7	1152	c.1070G>T	c.(1069-1071)aGa>aTa	p.R357I	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	357					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R357I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGGTCCAGAGATACATCGAC	0.537																																							uc010qnz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1069-1071)AGA>ATA		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						212.0	172.0	186.0					10																	96602702		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96602702G>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1070G>T	10.37:g.96602702G>T	ENSP00000360372:p.Arg357Ile					CYP2C19_uc010qny.1_Missense_Mutation_p.R335I	p.R357I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	7	1070	+		Colorectal(252;0.09)	357					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1070G>T	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092420	0.55968	.	.	ENSG00000165841	ENST00000371321	D	0.97505	-4.41	3.37	3.37	0.38596	.	0.000000	0.64402	U	0.000002	D	0.99042	0.9672	H	0.98965	4.385	0.50632	D	0.999886	D	0.89917	1.0	D	0.97110	1.0	D	0.98611	1.0663	10	0.87932	D	0	.	12.64	0.56705	0.0:0.0:1.0:0.0	.	357	P33261	CP2CJ_HUMAN	I	357	ENSP00000360372:R357I	ENSP00000360372:R357I	R	+	2	0	CYP2C19	96592692	1.000000	0.71417	0.998000	0.56505	0.115000	0.19883	9.006000	0.93592	1.590000	0.49995	0.505000	0.49811	AGA		0.537	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		6	57	1	0	0.00198382	0.001984	0.00217995	6	57				
CYP2C9	1559	broad.mit.edu	37	10	96748758	96748758	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:96748758C>T	ENST00000260682.6	+	9	1458	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	482					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.F482F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGCCGCCCTTCTACCAGCTGT	0.498																																					Ovarian(54;1266 1406 16072 35076)	Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)	6						c.(1444-1446)TTC>TTT		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						147.0	136.0	140.0					10																	96748758		2203	4300	6503	SO:0001819	synonymous_variant	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96748758C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1446C>T	10.37:g.96748758C>T						CYP2C9_uc009xut.2_Silent_p.F480F	p.F482F	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	9	1471	+		Colorectal(252;0.0902)	482					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	c.1446C>T	CCDS7437.1																																																																																				0.498	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		11	70	0	0	0	0.000978	0	11	70				
SORBS1	10580	broad.mit.edu	37	10	97174272	97174272	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:97174272G>A	ENST00000361941.3	-	7	815	c.789C>T	c.(787-789)ctC>ctT	p.L263L	SORBS1_ENST00000371227.4_Silent_p.L263L|SORBS1_ENST00000393949.1_Silent_p.L254L|SORBS1_ENST00000277982.5_Silent_p.L263L|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371246.2_Silent_p.L263L|SORBS1_ENST00000353505.5_Silent_p.L194L|SORBS1_ENST00000371247.2_Silent_p.L263L|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371245.3_Silent_p.L194L|SORBS1_ENST00000371249.2_Silent_p.L231L|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000354106.3_Silent_p.L254L	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.L263L(1)|p.L194L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAGCTCCCGTGAGGTCAGGCT	0.602																																							uc001kkp.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(787-789)CTC>CTT		sorbin and SH3 domain containing 1 isoform 3							42.0	44.0	44.0					10																	97174272		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174272G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.789C>T	10.37:g.97174272G>A						SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Silent_p.L263L|SORBS1_uc001kkq.2_Silent_p.L194L|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Silent_p.L231L|SORBS1_uc001kkw.2_Silent_p.L263L|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Silent_p.L461L|SORBS1_uc001kkx.1_Silent_p.L231L	p.L263L	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	7	834	-		Colorectal(252;0.0429)	263						Silent	SNP	ENST00000361941.3	37	c.789C>T	CCDS31255.1																																																																																				0.602	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			6	27	0	0	0	0.001168	0	6	27				
ABCC2	1244	broad.mit.edu	37	10	101594239	101594239	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:101594239C>A	ENST00000370449.4	+	24	3474	c.3361C>A	c.(3361-3363)Cct>Act	p.P1121T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1121	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.P1121T(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CATGGCCACTCCTGTCTTCAC	0.463																																							uc001kqf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3361-3363)CCT>ACT		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						423.0	320.0	355.0					10																	101594239		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101594239C>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3361C>A	10.37:g.101594239C>A	ENSP00000359478:p.Pro1121Thr						p.P1121T	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	24	3500	+		Colorectal(252;0.234)	1121			ABC transmembrane type-1 2.|Helical; Name=15; (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3361C>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658464	0.67586	.	.	ENSG00000023839	ENST00000370449	D	0.91124	-2.79	5.27	5.27	0.74061	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96830	0.9610	10	0.87932	D	0	-8.3967	18.8975	0.92429	0.0:1.0:0.0:0.0	.	1121	Q92887	MRP2_HUMAN	T	1121	ENSP00000359478:P1121T	ENSP00000359478:P1121T	P	+	1	0	ABCC2	101584229	1.000000	0.71417	0.234000	0.24042	0.302000	0.27658	7.395000	0.79876	2.458000	0.83093	0.555000	0.69702	CCT		0.463	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		14	130	1	0	1.15088e-07	0.004007	1.64282e-07	14	130				
PKD2L1	9033	broad.mit.edu	37	10	102055997	102055997	+	Missense_Mutation	SNP	C	C	T	rs145997401	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:102055997C>T	ENST00000318222.3	-	7	1620	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	PKD2L1_ENST00000338519.3_Missense_Mutation_p.R338Q|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R413Q	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	413					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.R413Q(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCCATGAGCCGATTCACCTC	0.542																																							uc001kqx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1237-1239)CGG>CAG		polycystic kidney disease 2-like 1		C	GLN/ARG	0,4406		0,0,2203	105.0	89.0	95.0		1238	4.0	1.0	10	dbSNP_134	95	3,8597	3.0+/-9.4	0,3,4297	no	missense	PKD2L1	NM_016112.2	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	413/806	102055997	3,13003	2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102055997C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1238G>A	10.37:g.102055997C>T	ENSP00000325296:p.Arg413Gln					PKD2L1_uc009xwm.1_Missense_Mutation_p.R366Q	p.R413Q	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	7	1621	-		Colorectal(252;0.117)	413			Cytoplasmic (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1238G>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343171	0.61073	0.0	3.49E-4	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.69435	-0.4;-0.4;-0.4	5.8	3.95	0.45737	Polycystin cation channel, PKD1/PKD2 (1);	0.240113	0.42548	D	0.000685	T	0.52629	0.1746	L	0.52364	1.645	0.29842	N	0.829125	P;P	0.38565	0.637;0.538	B;B	0.31614	0.133;0.111	T	0.51276	-0.8726	10	0.14252	T	0.57	-17.1492	11.1951	0.48709	0.0:0.8536:0.0:0.1464	.	366;413	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	Q	338;413;413;411	ENSP00000345068:R338Q;ENSP00000266049:R413Q;ENSP00000325296:R413Q	ENSP00000325296:R413Q	R	-	2	0	PKD2L1	102045987	0.021000	0.18746	1.000000	0.80357	0.989000	0.77384	0.323000	0.19593	1.479000	0.48272	0.561000	0.74099	CGG		0.542	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		10	31	0	0	0	0.006214	0	10	31				
GBF1	8729	broad.mit.edu	37	10	104139301	104139301	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:104139301G>T	ENST00000369983.3	+	35	4926	c.4666G>T	c.(4666-4668)Gcc>Tcc	p.A1556S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1556					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.A1556S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTGCTGCGATGCCCGGCGCCA	0.562																																							uc001kux.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4666-4668)GCC>TCC		golgi-specific brefeldin A resistant guanine							127.0	122.0	124.0					10																	104139301		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104139301G>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4666G>T	10.37:g.104139301G>T	ENSP00000359000:p.Ala1556Ser					GBF1_uc001kuy.1_Missense_Mutation_p.A1552S|GBF1_uc001kuz.1_Missense_Mutation_p.A1553S	p.A1556S	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	35	4906	+		Colorectal(252;0.0236)	1556					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4666G>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281803	0.40394	.	.	ENSG00000107862	ENST00000369983	T	0.09817	2.94	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.28344	0.845	0.80722	D	1	D;P;D	0.63880	0.984;0.716;0.993	P;B;D	0.72625	0.53;0.203;0.978	T	0.05386	-1.0888	10	0.08837	T	0.75	-14.6333	18.8759	0.92334	0.0:0.0:1.0:0.0	.	1552;1552;1556	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	S	1556	ENSP00000359000:A1556S	ENSP00000359000:A1556S	A	+	1	0	GBF1	104129291	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.609000	0.82925	2.683000	0.91414	0.655000	0.94253	GCC		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			17	125	1	0	1.99824e-07	0.00499	2.83847e-07	17	125				
SH3PXD2A	9644	broad.mit.edu	37	10	105362061	105362061	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:105362061C>A	ENST00000369774.4	-	15	3190	c.2914G>T	c.(2914-2916)Gtg>Ttg	p.V972L	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V944L|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V839L|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V807L			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	972					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.V944L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCTGCCGCACTCCGTTCCTC	0.652																																							uc001kxj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2830-2832)GTG>TTG		SH3 multiple domains 1							45.0	40.0	42.0					10																	105362061		2203	4299	6502	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362061C>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2914G>T	10.37:g.105362061C>A	ENSP00000358789:p.Val972Leu					SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.V779L|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.V821L|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.V779L|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.V887L	p.V944L	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	2970	-		Colorectal(252;0.0815)|Breast(234;0.131)	972					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2830G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.401676|2.401676	0.42613|0.42613	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.59364	.|0.35;0.33;0.48;0.27	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69931|0.69931	0.3166|0.3166	L|L	0.59436|0.59436	1.845|1.845	0.40773|0.40773	D|D	0.983106|0.983106	.|D;D;P;D	.|0.67145	.|0.994;0.994;0.915;0.996	.|D;D;P;D	.|0.76071	.|0.97;0.97;0.615;0.987	T|T	0.67389|0.67389	-0.5683|-0.5683	5|10	.|0.28530	.|T	.|0.3	-19.6324|-19.6324	13.2241|13.2241	0.59905|0.59905	0.0:0.924:0.0:0.076|0.0:0.924:0.0:0.076	.|.	.|972;821;817;944	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	I|L	898|972;944;779;887;839;807	.|ENSP00000358789:V972L;ENSP00000348215:V944L;ENSP00000443663:V839L;ENSP00000441514:V807L	.|ENSP00000318135:V779L	S|V	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352051|105352051	0.851000|0.851000	0.29673|0.29673	0.934000|0.934000	0.37439|0.37439	0.507000|0.507000	0.33981|0.33981	1.680000|1.680000	0.37607|0.37607	2.463000|2.463000	0.83235|0.83235	0.561000|0.561000	0.74099|0.74099	AGT|GTG		0.652	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		5	32	1	0	2.74318e-10	0.006214	4.36034e-10	5	32				
ITPRIP	85450	broad.mit.edu	37	10	106074321	106074321	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:106074321C>T	ENST00000337478.1	-	2	1660	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	ITPRIP_ENST00000358187.2_Missense_Mutation_p.A497T|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.A497T	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	497						membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A497T(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGGGGCTCGGCCCTGAGCACG	0.592																																							uc001kye.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1489-1491)GCC>ACC		inositol 1,4,5-triphosphate receptor interacting							67.0	68.0	67.0					10																	106074321		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106074321C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1489G>A	10.37:g.106074321C>T	ENSP00000337178:p.Ala497Thr					ITPRIP_uc001kyf.2_Missense_Mutation_p.A497T|ITPRIP_uc001kyg.2_Missense_Mutation_p.A497T	p.A497T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	1562	-			497					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.1489G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928063	0.73327	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.42900	0.96;0.96;0.96	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	M	0.70275	2.135	0.53688	D	0.999972	D	0.89917	1.0	D	0.83275	0.996	T	0.69416	-0.5151	10	0.87932	D	0	-23.4723	18.9115	0.92487	0.0:1.0:0.0:0.0	.	497	Q8IWB1	IPRI_HUMAN	T	497	ENSP00000337178:A497T;ENSP00000278071:A497T;ENSP00000350915:A497T	ENSP00000278071:A497T	A	-	1	0	ITPRIP	106064311	1.000000	0.71417	0.999000	0.59377	0.306000	0.27790	5.997000	0.70646	2.543000	0.85770	0.561000	0.74099	GCC		0.592	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		5	65	0	0	0	0.001984	0	5	65				
ITPRIP	85450	broad.mit.edu	37	10	106074328	106074328	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:106074328C>A	ENST00000337478.1	-	2	1653	c.1482G>T	c.(1480-1482)gtG>gtT	p.V494V	ITPRIP_ENST00000358187.2_Silent_p.V494V|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Silent_p.V494V	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	494						membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V494V(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGCCCTGAGCACGGCCTCAG	0.587																																							uc001kye.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1480-1482)GTG>GTT		inositol 1,4,5-triphosphate receptor interacting							65.0	66.0	66.0					10																	106074328		2203	4300	6503	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106074328C>A	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1482G>T	10.37:g.106074328C>A						ITPRIP_uc001kyf.2_Silent_p.V494V|ITPRIP_uc001kyg.2_Silent_p.V494V	p.V494V	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	1555	-			494					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.1482G>T	CCDS7557.1																																																																																				0.587	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		13	51	1	0	1.3612e-06	0.003163	1.85225e-06	13	51				
SORCS3	22986	broad.mit.edu	37	10	106959779	106959780	+	Missense_Mutation	DNP	CG	CG	TT	rs146574756		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:106959779_106959780CG>TT	ENST00000369701.3	+	15	2259_2260	c.2032_2033CG>TT	c.(2032-2034)CGc>TTc	p.R678F	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	678					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)	p.R678F(1)		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)		CTTCAGCCTCCGCTCCGAATGG	0.495																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2032-2034)CGC>TTC		VPS10 domain receptor protein SORCS 3 precursor																																				SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106959779_106959780CG>TT	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	Exception_encountered	10.37:g.106959779_106959780delinsTT	ENSP00000358715:p.Arg678Phe					SORCS3_uc010qqz.1_RNA	p.R678F	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)	15	2259_2260	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	678			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	DNP	ENST00000369701.3	37	c.2032_2033CG>TT	CCDS7558.1																																																																																				0.495	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		8	58	0	0	0	0.004672	0	8	58				
SORCS1	114815	broad.mit.edu	37	10	108366972	108366972	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:108366972A>G	ENST00000263054.6	-	23	3124	c.3117T>C	c.(3115-3117)taT>taC	p.Y1039Y	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Silent_p.Y574Y|SORCS1_ENST00000344440.6_Silent_p.Y1039Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1039					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.Y1039Y(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGGATCCTGATAGGGTAGGA	0.552																																							uc001kym.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3115-3117)TAT>TAC		SORCS receptor 1 isoform a							94.0	90.0	91.0					10																	108366972		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108366972A>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3117T>C	10.37:g.108366972A>G						SORCS1_uc001kyl.2_Silent_p.Y1039Y|SORCS1_uc009xxs.2_Silent_p.Y1039Y|SORCS1_uc001kyn.1_Silent_p.Y1039Y|SORCS1_uc001kyo.2_Silent_p.Y1039Y	p.Y1039Y	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3125	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1039			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.3117T>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	5.738	0.320651	0.10845	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.92	0.947	0.19555	.	.	.	.	.	T	0.57460	0.2055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50533	-0.8817	4	.	.	.	-2.943	9.4628	0.38796	0.6535:0.0:0.3465:0.0	.	.	.	.	T	54	.	.	I	-	2	0	SORCS1	108356962	0.185000	0.23213	0.995000	0.50966	0.598000	0.36846	0.329000	0.19698	0.121000	0.18284	-0.274000	0.10170	ATC		0.552	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		7	50	0	0	0	0.004482	0	7	50				
SORCS1	114815	broad.mit.edu	37	10	108923870	108923870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:108923870C>A	ENST00000263054.6	-	1	422	c.415G>T	c.(415-417)Gag>Tag	p.E139*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E139*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	139					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E139*(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTCCCAGGCTCCTGCTGCCCT	0.682																																							uc001kym.2		NA																	2	Substitution - Nonsense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(415-417)GAG>TAG		SORCS receptor 1 isoform a							49.0	50.0	50.0					10																	108923870		2203	4300	6503	SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923870C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.415G>T	10.37:g.108923870C>A	ENSP00000263054:p.Glu139*					SORCS1_uc001kyl.2_Nonsense_Mutation_p.E139*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.E139*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.E139*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.E139*	p.E139*	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	423	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	139			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.415G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	38	6.831438	0.97869	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	.	.	.	4.81	4.81	0.61882	.	0.320788	0.24499	N	0.037997	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.8115	8.8989	0.35481	0.0:0.9004:0.0:0.0996	.	.	.	.	X	139	.	.	E	-	1	0	SORCS1	108913860	0.000000	0.05858	0.982000	0.44146	0.769000	0.43574	-0.136000	0.10405	2.483000	0.83821	0.655000	0.94253	GAG		0.682	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		7	38	1	0	5.68852e-11	0.004482	9.22327e-11	7	38				
DCLRE1A	9937	broad.mit.edu	37	10	115602144	115602144	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:115602144C>A	ENST00000361384.2	-	6	3540	c.2623G>T	c.(2623-2625)Gtc>Ttc	p.V875F	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.V875F	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	875					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.V875F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTGCCACAGACAACAAGAGCA	0.388								Other identified genes with known or suspected DNA repair function																															uc001law.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2623-2625)GTC>TTC	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							192.0	178.0	183.0					10																	115602144		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115602144C>A		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2623G>T	10.37:g.115602144C>A	ENSP00000355185:p.Val875Phe						p.V875F	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	6	3541	-			875					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.2623G>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581324	0.86748	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.76316	-1.01;-1.01	5.96	5.05	0.67936	.	0.056965	0.64402	D	0.000001	D	0.83064	0.5173	M	0.91038	3.17	0.58432	D	0.999999	B	0.24426	0.103	B	0.31390	0.129	D	0.83480	0.0064	10	0.87932	D	0	-12.0363	12.8939	0.58087	0.0:0.9256:0.0:0.0744	.	875	Q6PJP8	DCR1A_HUMAN	F	875	ENSP00000355185:V875F;ENSP00000358311:V875F	ENSP00000355185:V875F	V	-	1	0	DCLRE1A	115592134	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.797000	0.55514	2.826000	0.97356	0.655000	0.94253	GTC		0.388	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		12	80	1	0	6.40141e-05	0.000978	7.85211e-05	12	80				
PNLIPRP3	119548	broad.mit.edu	37	10	118220556	118220556	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:118220556A>T	ENST00000369230.3	+	6	790	c.644A>T	c.(643-645)gAc>gTc	p.D215V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	215					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.D215V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AACTTTGTTGACGTTATTCAT	0.443																																							uc001lcl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(643-645)GAC>GTC		pancreatic lipase-related protein 3 precursor							139.0	124.0	129.0					10																	118220556		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118220556A>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.644A>T	10.37:g.118220556A>T	ENSP00000358232:p.Asp215Val						p.D215V	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	6	745	+			215						Missense_Mutation	SNP	ENST00000369230.3	37	c.644A>T	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123102	0.77436	.	.	ENSG00000203837	ENST00000369230	D	0.95069	-3.6	4.93	3.77	0.43336	Lipase, N-terminal (1);	0.096550	0.42172	D	0.000750	D	0.97201	0.9085	M	0.88570	2.965	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.97047	0.9761	10	0.87932	D	0	.	11.0357	0.47799	0.8606:0.0:0.0:0.1394	.	215	Q17RR3	LIPR3_HUMAN	V	215	ENSP00000358232:D215V	ENSP00000358232:D215V	D	+	2	0	PNLIPRP3	118210546	1.000000	0.71417	0.010000	0.14722	0.530000	0.34684	4.631000	0.61304	0.879000	0.35944	0.482000	0.46254	GAC		0.443	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		6	69	0	0	0	0.001168	0	6	69				
PRLHR	2834	broad.mit.edu	37	10	120353854	120353854	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:120353854C>A	ENST00000369169.1	-	1	902	c.903G>T	c.(901-903)cgG>cgT	p.R301R	PRLHR_ENST00000239032.2_Silent_p.R301R			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	301					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)	p.R301R(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGTCGAGGTCCCGCAGCAGGT	0.662																																							uc001ldp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(901-903)CGG>CGT		G protein-coupled receptor 10							41.0	43.0	42.0					10																	120353854		2203	4300	6503	SO:0001819	synonymous_variant	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353854C>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.903G>T	10.37:g.120353854C>A							p.R301R	NM_004248	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	1042	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	301			Extracellular (Potential).		O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	c.903G>T	CCDS7606.1																																																																																				0.662	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		5	30	1	0	0.00116845	0.001168	0.00130265	5	30				
NANOS1	340719	broad.mit.edu	37	10	120790054	120790054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:120790054C>A	ENST00000425699.1	+	1	827	c.741C>A	c.(739-741)taC>taA	p.Y247*		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	247					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.Y247*(1)		lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TGCGCCGCTACACGTGTCCCC	0.701																																							uc009xzf.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(739-741)TAC>TAA		nanos homolog 1							23.0	20.0	21.0					10																	120790054		2130	4199	6329	SO:0001587	stop_gained	340719				epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding	g.chr10:120790054C>A	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141	ENST00000425699.1:c.741C>A	10.37:g.120790054C>A	ENSP00000393275:p.Tyr247*						p.Y247*	NM_199461	NP_955631	Q8WY41	NANO1_HUMAN		all cancers(201;0.0193)	1	827	+		Lung NSC(174;0.094)|all_lung(145;0.123)	247			Nanos-type.			Nonsense_Mutation	SNP	ENST00000425699.1	37	c.741C>A	CCDS7607.1	.	.	.	.	.	.	.	.	.	.	C	36	5.774809	0.96922	.	.	ENSG00000188613	ENST00000425699;ENST00000340087	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5599	18.3493	0.90333	0.0:1.0:0.0:0.0	.	.	.	.	X	247;39	.	ENSP00000345924:Y39X	Y	+	3	2	NANOS1	120780044	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.571000	0.60879	2.419000	0.82065	0.591000	0.81541	TAC		0.701	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			8	22	1	0	3.09899e-07	0.004482	4.35533e-07	8	22				
FGFR2	2263	broad.mit.edu	37	10	123274659	123274659	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:123274659T>A	ENST00000358487.5	-	9	1531	c.1259A>T	c.(1258-1260)aAa>aTa	p.K420I	FGFR2_ENST00000356226.4_Missense_Mutation_p.K305I|FGFR2_ENST00000351936.6_Missense_Mutation_p.K420I|FGFR2_ENST00000360144.3_Missense_Mutation_p.K332I|FGFR2_ENST00000369059.1_Missense_Mutation_p.K306I|FGFR2_ENST00000369056.1_Missense_Mutation_p.K421I|FGFR2_ENST00000457416.2_Missense_Mutation_p.K421I|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000478859.1_Missense_Mutation_p.K192I|FGFR2_ENST00000357555.5_Missense_Mutation_p.K331I|FGFR2_ENST00000490349.1_5'Flank|FGFR2_ENST00000369061.4_Missense_Mutation_p.K308I|FGFR2_ENST00000346997.2_Missense_Mutation_p.K420I	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	420					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.K420I(2)|p.K421I(1)|p.K331I(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GGGGATACGTTTGGTCAGCTT	0.498		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																														uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		4	Substitution - Missense(4)		lung(4)	endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(1258-1260)AAA>ATA		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						109.0	114.0	112.0					10																	123274659		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123274659T>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1259A>T	10.37:g.123274659T>A	ENSP00000351276:p.Lys420Ile					FGFR2_uc010qtg.1_Missense_Mutation_p.K308I|FGFR2_uc010qth.1_Missense_Mutation_p.K305I|FGFR2_uc010qti.1_Missense_Mutation_p.K331I|FGFR2_uc010qtj.1_Missense_Mutation_p.K421I|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.K305I|FGFR2_uc001lfl.3_Missense_Mutation_p.K421I|FGFR2_uc001lfm.2_Missense_Mutation_p.K332I|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.K30I	p.K420I	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	9	1906	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	420			Cytoplasmic (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1259A>T	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701024	0.88924	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.88	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.93462	0.7914	M	0.85197	2.74	0.80722	D	1	P;D;D;P;P;D;D;P	0.76494	0.914;0.993;0.996;0.949;0.951;0.999;0.995;0.952	P;D;D;P;P;D;D;P	0.72982	0.729;0.926;0.947;0.766;0.781;0.979;0.974;0.781	D	0.93860	0.7153	10	0.87932	D	0	.	13.3316	0.60490	0.0:0.0:0.1318:0.8682	.	439;421;331;305;420;332;421;325	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	I	331;423;308;420;305;306;12;420;421;420;332;421;421;331	ENSP00000350166:K331I;ENSP00000358057:K308I;ENSP00000351276:K420I;ENSP00000348559:K305I;ENSP00000358055:K306I;ENSP00000404219:K12I;ENSP00000263451:K420I;ENSP00000410294:K421I;ENSP00000309878:K420I;ENSP00000353262:K332I;ENSP00000358052:K421I;ENSP00000358054:K421I;ENSP00000337665:K331I	ENSP00000337665:K331I	K	-	2	0	FGFR2	123264649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.964000	0.87933	1.029000	0.39812	0.533000	0.62120	AAA		0.498	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		14	75	0	0	0	0.007413	0	14	75				
TACC2	10579	broad.mit.edu	37	10	123843657	123843657	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:123843657G>T	ENST00000369005.1	+	4	1982	c.1642G>T	c.(1642-1644)Ggg>Tgg	p.G548W	TACC2_ENST00000334433.3_Missense_Mutation_p.G548W|TACC2_ENST00000453444.2_Missense_Mutation_p.G548W|TACC2_ENST00000515603.1_Missense_Mutation_p.G548W|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.G548W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	548	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.G548W(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGCCACCGGGGCCAACGGA	0.597																																							uc001lfv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(1642-1644)GGG>TGG		transforming, acidic coiled-coil containing							86.0	88.0	87.0					10																	123843657		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843657G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1642G>T	10.37:g.123843657G>T	ENSP00000358001:p.Gly548Trp					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.G548W|TACC2_uc010qtv.1_Missense_Mutation_p.G548W	p.G548W	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	2002	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	548			Pro-rich.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.1642G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757492	0.49468	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.15952	2.62;2.38;2.44;2.62;2.38	5.53	4.62	0.57501	.	0.467571	0.16037	N	0.232590	T	0.25680	0.0625	N	0.24115	0.695	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.69142	0.962;0.962;0.962	T	0.06716	-1.0811	10	0.87932	D	0	-3.5945	10.0884	0.42432	0.0923:0.0:0.9077:0.0	.	548;548;548	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	W	548;548;548;548;548;538	ENSP00000358001:G548W;ENSP00000424467:G548W;ENSP00000427618:G548W;ENSP00000334280:G548W;ENSP00000395048:G548W	ENSP00000334280:G548W	G	+	1	0	TACC2	123833647	0.040000	0.19996	0.008000	0.14137	0.012000	0.07955	1.531000	0.36018	1.337000	0.45525	0.561000	0.74099	GGG		0.597	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			14	41	1	0	2.61681e-11	0.00245	4.27139e-11	14	41				
CYP2E1	1571	broad.mit.edu	37	10	135346316	135346316	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:135346316C>G	ENST00000463117.2	+	7	1041	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	CYP2E1_ENST00000252945.3_Missense_Mutation_p.L257V|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	257					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.L257V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCATCAATCTCTGGACCCCAA	0.537									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																														uc001lnj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(769-771)CTG>GTG		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						80.0	79.0	79.0					10																	135346316		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135346316C>G	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.769C>G	10.37:g.135346316C>G	ENSP00000440689:p.Leu257Val					CYP2E1_uc001lnk.1_Missense_Mutation_p.L120V|CYP2E1_uc009ybl.1_Missense_Mutation_p.L58V|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.L58V	p.L257V	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	5	802	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	257					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.769C>G	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	C	8.974	0.973718	0.18736	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.48	1.56	0.23342	.	0.135933	0.50627	D	0.000104	T	0.67439	0.2893	M	0.80183	2.485	0.18873	N	0.999988	P;B	0.35656	0.514;0.077	B;B	0.36378	0.223;0.03	T	0.62378	-0.6867	10	0.66056	D	0.02	.	6.3476	0.21357	0.0:0.67:0.1533:0.1767	.	153;257	Q59EW1;P05181	.;CP2E1_HUMAN	V	257;257;170;120	ENSP00000440689:L257V;ENSP00000252945:L257V;ENSP00000412754:L170V;ENSP00000397299:L120V	ENSP00000252945:L257V	L	+	1	2	CYP2E1	135196306	0.002000	0.14202	0.348000	0.25681	0.036000	0.12997	-0.044000	0.12023	0.376000	0.24707	-0.140000	0.14226	CTG		0.537	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		11	58	0	0	0	0.000978	0	11	58				
SYCE1	93426	broad.mit.edu	37	10	135369516	135369516	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:135369516C>T	ENST00000343131.5	-	9	668	c.564G>A	c.(562-564)ctG>ctA	p.L188L	SYCE1_ENST00000432597.2_Silent_p.L152L|SYCE1_ENST00000368517.3_Silent_p.L152L|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	188					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.L152L(1)|p.L188L(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGCTGCTGTCCAGGGCACAAA	0.572																																							uc001lno.2		NA																	2	Substitution - coding silent(2)	p.T188N(1)	lung(2)	ovary(1)	1						c.(562-564)CTG>CTA		synaptonemal complex central element protein 1							123.0	104.0	110.0					10																	135369516		2203	4300	6503	SO:0001819	synonymous_variant	93426				cell division	central element		g.chr10:135369516C>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.564G>A	10.37:g.135369516C>T						CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Silent_p.L60L|SYCE1_uc009ybn.2_Silent_p.L188L|SYCE1_uc001lnn.2_Silent_p.L152L	p.L188L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	9	669	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	188			Potential.		B2RC80|Q9BWU3|Q9BWU4	Silent	SNP	ENST00000343131.5	37	c.564G>A	CCDS44501.1																																																																																				0.572	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		12	101	0	0	0	0.001368	0	12	101				
CDKN1C	1028	broad.mit.edu	37	11	2905952	2905952	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:2905952G>A	ENST00000414822.3	-	1	1159	c.768C>T	c.(766-768)gcC>gcT	p.A256A	CDKN1C_ENST00000313407.6_Silent_p.A245A|CDKN1C_ENST00000440480.2_Silent_p.A245A|CDKN1C_ENST00000380725.1_Intron|CDKN1C_ENST00000430149.2_Silent_p.A256A	NM_000076.2	NP_000067.1	P49918	CDN1C_HUMAN	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	256					adrenal gland development (GO:0030325)|aging (GO:0007568)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|digestive system development (GO:0055123)|embryonic placenta morphogenesis (GO:0060669)|genetic imprinting (GO:0071514)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|myeloid cell differentiation (GO:0030099)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of kinase activity (GO:0033673)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|skeletal system development (GO:0001501)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)	p.A256A(1)		central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCGCTGGCGGCCGCGGTGC	0.771																																					GBM(111;59 1151 2497 5746 16112 18241 29216)	GBM(111;59 1151 2497 5746 16112 18241 29216)	uc001lws.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(766-768)GCC>GCT		cyclin-dependent kinase inhibitor 1C isoform a							7.0	9.0	8.0					11																	2905952		1015	2330	3345	SO:0001819	synonymous_variant	1028	Beckwith-Wiedemann_syndrome			cell cycle arrest|G1 phase of mitotic cell cycle|negative regulation of epithelial cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding	g.chr11:2905952G>A	D64137	CCDS7738.1, CCDS44519.1	11p15.5	2014-09-17	2004-02-13		ENSG00000129757	ENSG00000129757			1786	protein-coding gene	gene with protein product		600856	"""Beckwith-Wiedemann syndrome"""	BWCR, BWS		7729684	Standard	NM_000076		Approved	P57, KIP2	uc001lws.4	P49918	OTTHUMG00000010040	ENST00000414822.3:c.768C>T	11.37:g.2905952G>A						CDKN1C_uc001lwu.3_Silent_p.A245A|CDKN1C_uc009ydr.2_Silent_p.A245A|CDKN1C_uc001lwt.3_Intron|CDKN1C_uc001lwr.3_Silent_p.A256A	p.A256A	NM_000076	NP_000067	P49918	CDN1C_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1044	-		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)	256						Silent	SNP	ENST00000414822.3	37	c.768C>T	CCDS7738.1																																																																																				0.771	CDKN1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027774.2	NM_000076		5	6	0	0	0	0.001984	0	5	6				
OR51L1	119682	broad.mit.edu	37	11	5021140	5021140	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:5021140G>C	ENST00000321543.1	+	1	928	c.928G>C	c.(928-930)Gtc>Ctc	p.V310L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V310L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACAAGTTTGTCCTAAGGAG	0.408																																							uc010qyu.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(928-930)GTC>CTC		olfactory receptor, family 51, subfamily L,							62.0	61.0	61.0					11																	5021140		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5021140G>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.928G>C	11.37:g.5021140G>C	ENSP00000322156:p.Val310Leu						p.V310L	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	928	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	310			Cytoplasmic (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.928G>C	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.687556	0.00738	.	.	ENSG00000176798	ENST00000321543	T	0.35236	1.32	5.43	1.1	0.20463	.	1.267270	0.05757	N	0.604286	T	0.10165	0.0249	N	0.00602	-1.34	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.30179	-0.9987	10	0.08837	T	0.75	.	4.2313	0.10604	0.4651:0.1752:0.3597:0.0	.	310	Q8NGJ5	O51L1_HUMAN	L	310	ENSP00000322156:V310L	ENSP00000322156:V310L	V	+	1	0	OR51L1	4977716	0.000000	0.05858	0.067000	0.19924	0.010000	0.07245	-0.388000	0.07352	0.365000	0.24400	0.650000	0.86243	GTC		0.408	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		17	33	0	0	0	0.00499	0	17	33				
OR52J3	119679	broad.mit.edu	37	11	5067999	5067999	+	Missense_Mutation	SNP	C	C	T	rs201482687		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:5067999C>T	ENST00000380370.1	+	1	244	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R82C(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTGCCTCGCATGCTGGG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19947	0.001		0.0	False		,,,				2504	0.0						uc010qyv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(244-246)CGC>TGC		olfactory receptor, family 52, subfamily J,							136.0	115.0	122.0					11																	5067999		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5067999C>T	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.244C>T	11.37:g.5067999C>T	ENSP00000369728:p.Arg82Cys						p.R82C	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	244	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	82			Extracellular (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.244C>T	CCDS31370.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.71	1.719215	0.30503	.	.	ENSG00000205495	ENST00000380370	T	0.03330	3.97	4.19	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.586544	0.14225	N	0.333137	T	0.14098	0.0341	M	0.88842	2.985	0.37474	D	0.915737	D	0.71674	0.998	P	0.58873	0.847	T	0.04537	-1.0944	10	0.87932	D	0	.	4.0566	0.09819	0.2718:0.5346:0.0:0.1936	.	82	Q8NH60	O52J3_HUMAN	C	82	ENSP00000369728:R82C	ENSP00000369728:R82C	R	+	1	0	OR52J3	5024575	0.000000	0.05858	0.511000	0.27724	0.171000	0.22731	-0.099000	0.11007	0.973000	0.38340	-0.122000	0.15005	CGC		0.498	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		13	15	0	0	0	0.00245	0	13	15				
OR52L1	338751	broad.mit.edu	37	11	6008099	6008099	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6008099G>C	ENST00000332249.4	-	1	116	c.62C>G	c.(61-63)tCa>tGa	p.S21*		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S6*(1)|p.S21*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCCAGCTTGAATTGCTAAG	0.453																																					Melanoma(121;653 1666 10547 22796 51255)	Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(61-63)TCA>TGA		olfactory receptor, family 52, subfamily L,							49.0	48.0	48.0					11																	6008099		1846	4085	5931	SO:0001587	stop_gained	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6008099G>C	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.62C>G	11.37:g.6008099G>C	ENSP00000330338:p.Ser21*						p.S21*	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	117	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	21			Extracellular (Potential).		B2RPA6|Q6IFK9	Nonsense_Mutation	SNP	ENST00000332249.4	37	c.62C>G	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637138	0.29157	.	.	ENSG00000183313	ENST00000332249	.	.	.	3.8	1.85	0.25348	.	0.000000	0.37304	N	0.002158	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.2136	0.15331	0.3723:0.0:0.6277:0.0	.	.	.	.	X	21	.	ENSP00000330338:S21X	S	-	2	0	OR52L1	5964675	0.042000	0.20092	0.892000	0.35008	0.009000	0.06853	1.850000	0.39328	0.705000	0.31890	0.313000	0.20887	TCA		0.453	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		7	21	0	0	0	0.001984	0	7	21				
TRIM3	10612	broad.mit.edu	37	11	6472661	6472661	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6472661G>C	ENST00000525074.1	-	8	1935	c.1541C>G	c.(1540-1542)tCc>tGc	p.S514C	TRIM3_ENST00000537602.1_Missense_Mutation_p.S436C|TRIM3_ENST00000536344.1_Missense_Mutation_p.S395C|TRIM3_ENST00000359518.3_Missense_Mutation_p.S514C|TRIM3_ENST00000345851.3_Missense_Mutation_p.S514C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	514					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S514C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCTCATTGGAGAAAACCTG	0.607																																					Melanoma(6;5 510 1540 25169 29084)	Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(1540-1542)TCC>TGC		tripartite motif-containing 3							58.0	58.0	58.0					11																	6472661		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6472661G>C	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1541C>G	11.37:g.6472661G>C	ENSP00000433102:p.Ser514Cys					TRIM3_uc001mdi.2_Missense_Mutation_p.S514C|TRIM3_uc010raj.1_Missense_Mutation_p.S395C|TRIM3_uc009yfd.2_Missense_Mutation_p.S514C|TRIM3_uc010rak.1_Missense_Mutation_p.S514C	p.S514C	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	9	1928	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	514			NHL 1.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1541C>G	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721395	0.48728	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	5.47	4.53	0.55603	Six-bladed beta-propeller, TolB-like (1);	0.056579	0.64402	D	0.000001	D	0.90820	0.7117	M	0.82923	2.615	0.52099	D	0.999945	B;B	0.23058	0.079;0.047	B;B	0.29176	0.099;0.03	D	0.88843	0.3314	10	0.72032	D	0.01	-20.5267	10.534	0.44994	0.0:0.1447:0.7056:0.1497	.	395;514	F5H2Q8;O75382	.;TRIM3_HUMAN	C	514;514;514;514;503;436;514;395	ENSP00000433102:S514C;ENSP00000340797:S514C;ENSP00000441091:S436C;ENSP00000352508:S514C;ENSP00000445460:S395C	ENSP00000337094:S503C	S	-	2	0	TRIM3	6429237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.735000	0.74806	1.238000	0.43771	0.563000	0.77884	TCC		0.607	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		10	34	0	0	0	0.008291	0	10	34				
OR10A4	283297	broad.mit.edu	37	11	6898719	6898719	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6898719G>T	ENST00000379829.2	+	1	864	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	281					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V281L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTCCACAGTGGTGACTCC	0.512																																							uc010rat.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)GTG>TTG		olfactory receptor, family 10, subfamily A,							138.0	131.0	133.0					11																	6898719		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898719G>T	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.841G>T	11.37:g.6898719G>T	ENSP00000369157:p.Val281Leu						p.V281L	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	841	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	281			Helical; Name=7; (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.841G>T	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	g	14.47	2.544057	0.45280	.	.	ENSG00000170782	ENST00000379829	T	0.00279	8.33	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001072	T	0.00328	0.0010	L	0.38175	1.15	0.27991	N	0.935656	D	0.55385	0.971	P	0.55508	0.777	T	0.69060	-0.5245	10	0.39692	T	0.17	.	14.4745	0.67537	0.0:0.0:1.0:0.0	.	281	Q9H209	O10A4_HUMAN	L	281	ENSP00000369157:V281L	ENSP00000369157:V281L	V	+	1	0	OR10A4	6855295	0.183000	0.23186	0.993000	0.49108	0.900000	0.52787	0.831000	0.27476	2.542000	0.85734	0.651000	0.88453	GTG		0.512	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		10	42	1	0	7.03913e-09	0.001368	1.06427e-08	10	42				
ZNF215	7762	broad.mit.edu	37	11	6953714	6953714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6953714G>T	ENST00000278319.5	+	3	799	c.211G>T	c.(211-213)Gag>Tag	p.E71*	ZNF215_ENST00000529903.1_Nonsense_Mutation_p.E71*|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.E71*|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	71	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E71*(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCAACTCTGGGAGCTCTGTCT	0.478																																							uc001mey.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(211-213)GAG>TAG		zinc finger protein 215							70.0	75.0	73.0					11																	6953714		2201	4296	6497	SO:0001587	stop_gained	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6953714G>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.211G>T	11.37:g.6953714G>T	ENSP00000278319:p.Glu71*					ZNF215_uc010raw.1_Nonsense_Mutation_p.E71*|ZNF215_uc010rax.1_5'UTR|ZNF215_uc001mez.1_Nonsense_Mutation_p.E71*	p.E71*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	3	799	+			71			SCAN box.		Q96C84	Nonsense_Mutation	SNP	ENST00000278319.5	37	c.211G>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	G	39	7.503042	0.98325	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	.	.	.	4.15	-1.96	0.07525	.	0.403624	0.18134	N	0.150637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.3316	3.8673	0.09021	0.4639:0.0:0.3668:0.1693	.	.	.	.	X	71	.	ENSP00000278319:E71X	E	+	1	0	ZNF215	6910290	0.659000	0.27411	0.727000	0.30756	0.954000	0.61252	0.004000	0.13106	-0.370000	0.08016	0.655000	0.94253	GAG		0.478	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			7	36	1	0	8.12818e-05	0.001984	9.82943e-05	7	36				
ZNF215	7762	broad.mit.edu	37	11	6962865	6962865	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6962865C>G	ENST00000278319.5	+	4	1052	c.464C>G	c.(463-465)tCa>tGa	p.S155*	ZNF215_ENST00000529903.1_Nonsense_Mutation_p.S155*|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.S155*|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	155					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S155*(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAAGCTGGCTCACGAACAGGC	0.408																																							uc001mey.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(463-465)TCA>TGA		zinc finger protein 215							90.0	87.0	88.0					11																	6962865		2201	4296	6497	SO:0001587	stop_gained	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6962865C>G	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.464C>G	11.37:g.6962865C>G	ENSP00000278319:p.Ser155*					ZNF215_uc010raw.1_Nonsense_Mutation_p.S155*|ZNF215_uc010rax.1_5'UTR|ZNF215_uc001mez.1_Nonsense_Mutation_p.S155*	p.S155*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	4	1052	+			155					Q96C84	Nonsense_Mutation	SNP	ENST00000278319.5	37	c.464C>G	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664764	0.96745	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	.	.	.	4.32	2.44	0.29823	.	0.439860	0.17012	N	0.190452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-0.6803	6.1409	0.20259	0.0:0.7739:0.0:0.2261	.	.	.	.	X	155	.	ENSP00000278319:S155X	S	+	2	0	ZNF215	6919441	0.068000	0.21057	0.396000	0.26296	0.019000	0.09904	1.024000	0.30077	1.191000	0.43056	0.591000	0.81541	TCA		0.408	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			6	23	0	0	0	0.001168	0	6	23				
OR5P3	120066	broad.mit.edu	37	11	7847327	7847327	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:7847327G>A	ENST00000328375.1	-	1	192	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H65Y(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGCCAAATGGCAGAGGAAA	0.413																																							uc010rbg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(193-195)CAT>TAT		olfactory receptor, family 5, subfamily P,							102.0	101.0	101.0					11																	7847327		2186	4296	6482	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847327G>A	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.193C>T	11.37:g.7847327G>A	ENSP00000332068:p.His65Tyr						p.H65Y	NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	193	-			65			Helical; Name=2; (Potential).		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.193C>T	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010056	0.35415	.	.	ENSG00000182334	ENST00000328375	T	0.02974	4.09	5.28	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	U	0.000253	T	0.04452	0.0122	M	0.68593	2.085	0.20307	N	0.999913	P	0.37101	0.582	B	0.37144	0.242	T	0.31223	-0.9951	10	0.54805	T	0.06	-18.4411	6.5892	0.22638	0.0889:0.0:0.7334:0.1777	.	65	Q8WZ94	OR5P3_HUMAN	Y	65	ENSP00000332068:H65Y	ENSP00000332068:H65Y	H	-	1	0	OR5P3	7803903	0.018000	0.18449	0.074000	0.20217	0.010000	0.07245	0.891000	0.28309	1.475000	0.48197	0.644000	0.83932	CAT		0.413	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		8	37	0	0	0	0.00308	0	8	37				
NLRP10	338322	broad.mit.edu	37	11	7981665	7981665	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:7981665C>G	ENST00000328600.2	-	2	1655	c.1494G>C	c.(1492-1494)ctG>ctC	p.L498L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	498					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.L498L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTACCTCCAGCAGCCTTTGCA	0.502																																							uc001mfv.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1492-1494)CTG>CTC		NLR family, pyrin domain containing 10							96.0	94.0	95.0					11																	7981665		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7981665C>G	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1494G>C	11.37:g.7981665C>G							p.L498L	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1511	-			498					Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.1494G>C	CCDS7784.1																																																																																				0.502	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		12	47	0	0	0	0.00245	0	12	47				
CSNK2A3	283106	broad.mit.edu	37	11	11373750	11373750	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:11373750C>G	ENST00000528848.2	-	1	1154	c.917G>C	c.(916-918)cGa>cCa	p.R306P	RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										GTGGTCATATCGCAGCAGTTT	0.522																																							uc001mjp.2		NA																	0					0						c.(916-918)CGA>CCA		casein kinase II alpha 1 subunit isoform a																																				SO:0001583	missense	283106							g.chr11:11373750C>G	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.917G>C	11.37:g.11373750C>G	ENSP00000473553:p.Arg306Pro					GALNTL4_uc001mjo.2_Intron	p.R306P	NM_177559	NP_808227					1	1155	-									Missense_Mutation	SNP	ENST00000528848.2	37	c.917G>C	CCDS59224.1																																																																																				0.522	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		10	27	0	0	0	0.006214	0	10	27				
BTBD10	84280	broad.mit.edu	37	11	13427269	13427269	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:13427269C>T	ENST00000278174.5	-	7	1188	c.943G>A	c.(943-945)Gat>Aat	p.D315N	BTBD10_ENST00000530907.1_Missense_Mutation_p.D323N|BTBD10_ENST00000528120.1_Missense_Mutation_p.D267N	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	315	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)		p.D315N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ACATCATCATCTGTAAGCACC	0.428																																							uc001mkz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(943-945)GAT>AAT		K+ channel tetramerization protein							252.0	229.0	237.0					11																	13427269		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13427269C>T	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.943G>A	11.37:g.13427269C>T	ENSP00000278174:p.Asp315Asn					BTBD10_uc010rcl.1_Missense_Mutation_p.D323N|BTBD10_uc001mla.2_Missense_Mutation_p.D299N|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.D267N|BTBD10_uc010rcn.1_Missense_Mutation_p.D284N|BTBD10_uc009ygo.2_Missense_Mutation_p.D267N	p.D315N	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	7	1200	-			315					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.943G>A	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381910	0.95967	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	D;D;D	0.82167	-1.58;-1.58;-1.58	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.68317	2.08	0.80722	D	1	D;P;P;P	0.67145	0.996;0.909;0.909;0.909	D;P;P;P	0.79784	0.993;0.481;0.481;0.481	D	0.91278	0.5049	10	0.87932	D	0	-32.3665	18.6399	0.91392	0.0:1.0:0.0:0.0	.	284;323;315;315	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	N	315;323;267	ENSP00000278174:D315N;ENSP00000431186:D323N;ENSP00000435257:D267N	ENSP00000278174:D315N	D	-	1	0	BTBD10	13383845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.495000	0.84180	0.591000	0.81541	GAT		0.428	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		21	81	0	0	0	0.002299	0	21	81				
INSC	387755	broad.mit.edu	37	11	15260577	15260577	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:15260577C>T	ENST00000379554.3	+	11	1537	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L	INSC_ENST00000528567.1_Silent_p.L450L|INSC_ENST00000424273.1_Silent_p.L408L|INSC_ENST00000379556.3_Silent_p.L450L|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Silent_p.L408L|INSC_ENST00000530161.1_Silent_p.L450L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	497					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.L497L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGGCTCGTCTCAGCCGAGACC	0.617																																							uc001mly.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1489-1491)CTC>CTT		inscuteable isoform a							50.0	52.0	51.0					11																	15260577		2085	4207	6292	SO:0001819	synonymous_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260577C>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1491C>T	11.37:g.15260577C>T						INSC_uc001mlz.2_Silent_p.L450L|INSC_uc001mma.2_Silent_p.L450L|INSC_uc010rcs.1_Silent_p.L485L|INSC_uc001mmb.2_Silent_p.L450L|INSC_uc001mmc.2_Silent_p.L408L	p.L497L	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			11	1537	+			497					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	c.1491C>T	CCDS41621.1																																																																																				0.617	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		7	19	0	0	0	0.001984	0	7	19				
MUC15	143662	broad.mit.edu	37	11	26586719	26586719	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:26586719G>T	ENST00000455601.2	-	2	805	c.687C>A	c.(685-687)ccC>ccA	p.P229P	ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Silent_p.P256P|MUC15_ENST00000436318.2_Silent_p.P256P|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Silent_p.P256P|MUC15_ENST00000529533.1_Silent_p.P256P|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	229					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P229P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TACCTTTTTGGGGATCTGACG	0.338																																							uc001mqx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(685-687)CCC>CCA		mucin 15 isoform b							108.0	110.0	109.0					11																	26586719		2203	4300	6503	SO:0001819	synonymous_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586719G>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.687C>A	11.37:g.26586719G>T						ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.P256P|MUC15_uc001mqy.2_Silent_p.P256P	p.P229P	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			2	953	-			229			Extracellular (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	c.687C>A	CCDS7859.1																																																																																				0.338	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		9	42	1	0	0.000274275	0.004482	0.000319476	9	42				
WT1	7490	broad.mit.edu	37	11	32413565	32413565	+	Missense_Mutation	SNP	C	C	A	rs121907903		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:32413565C>A	ENST00000379079.2	-	9	1022	c.749G>T	c.(748-750)cGg>cTg	p.R250L	WT1_ENST00000530998.1_Missense_Mutation_p.R233L|WT1_ENST00000448076.3_Missense_Mutation_p.R462L|WT1_ENST00000332351.3_Missense_Mutation_p.R462L	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	394					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R394Q(6)|p.R394P(6)|p.R250L(1)|p.V380_S410del(1)|p.R394L(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGGTCGGACCGGGAGAACTT	0.433			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														uc001mtn.1		NA	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	15	Substitution - Missense(14)|Deletion - In frame(1)	p.R394P(6)|p.R394Q(4)|p.V380_S410del(1)	haematopoietic_and_lymphoid_tissue(12)|lung(2)|large_intestine(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	GRCh37	CM041493|CM920718|CM982050	WT1	M	rs121907903	c.(1384-1386)CGG>CTG		Wilms tumor 1 isoform D							192.0	188.0	190.0					11																	32413565		2202	4299	6501	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32413565C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.749G>T	11.37:g.32413565C>A	ENSP00000368370:p.Arg250Leu					WT1_uc001mtl.1_Missense_Mutation_p.R250L|WT1_uc001mtm.1_Missense_Mutation_p.R233L|WT1_uc001mto.1_Missense_Mutation_p.R462L|WT1_uc001mtp.1_Missense_Mutation_p.R445L|WT1_uc001mtq.1_Missense_Mutation_p.R445L|WT1_uc009yjs.1_RNA	p.R462L	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		9	1581	-	Breast(20;0.247)		394	R->A,S: Strongly reduced binding of DNA and RNA.	R -> L (in WT1).|R -> P (in DDS).|R -> Q (in DDS).|R -> W (in DDS, WT1 and MEACHS).	C2H2-type 3.|Important for interaction with target DNA.		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1385G>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587265	0.96590	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.60548	3.34;0.18;0.18;3.34;3.34	6.04	6.04	0.98038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000011	T	0.74642	0.3743	L	0.55017	1.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	T	0.74080	-0.3780	10	0.72032	D	0.01	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	450;394;467;233;250	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	L	250;462;233;445;462	ENSP00000368370:R250L;ENSP00000331327:R462L;ENSP00000435307:R233L;ENSP00000415516:R445L;ENSP00000413452:R462L	ENSP00000331327:R462L	R	-	2	0	WT1	32370141	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.794000	0.85869	2.873000	0.98535	0.561000	0.74099	CGG		0.433	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		24	79	1	0	6.12954e-19	0.004656	1.12118e-18	24	79				
OR4C13	283092	broad.mit.edu	37	11	49974659	49974659	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:49974659G>C	ENST00000555099.1	+	1	717	c.685G>C	c.(685-687)Gag>Cag	p.E229Q		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E229Q(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCACAGCTTAGAGGCAAGGCA	0.483																																							uc010rhz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(685-687)GAG>CAG		olfactory receptor, family 4, subfamily C,							180.0	150.0	160.0					11																	49974659		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974659G>C	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.685G>C	11.37:g.49974659G>C	ENSP00000452277:p.Glu229Gln						p.E229Q	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	685	+			229			Cytoplasmic (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.685G>C	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	5.164	0.215794	0.09810	.	.	ENSG00000258817	ENST00000555099	T	0.00076	8.76	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000241	T	0.00210	0.0006	L	0.53671	1.685	0.09310	N	1	B	0.31318	0.319	B	0.39935	0.314	T	0.19679	-1.0298	9	.	.	.	.	11.1932	0.48698	0.0:0.0:1.0:0.0	.	229	Q8NGP0	OR4CD_HUMAN	Q	229	ENSP00000452277:E229Q	.	E	+	1	0	OR4C13	49931235	0.006000	0.16342	0.159000	0.22649	0.131000	0.20780	0.990000	0.29642	1.524000	0.49035	0.186000	0.17326	GAG		0.483	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		25	90	0	0	0	0.003954	0	25	90				
OR4A16	81327	broad.mit.edu	37	11	55111467	55111467	+	Missense_Mutation	SNP	C	C	A	rs138375517		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55111467C>A	ENST00000314721.2	+	1	841	c.791C>A	c.(790-792)cCc>cAc	p.P264H		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P264H(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCCAACTTTCCCTTTGATAAA	0.368																																							uc010rie.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(790-792)CCC>CAC		olfactory receptor, family 4, subfamily A,							137.0	128.0	131.0					11																	55111467		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111467C>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.791C>A	11.37:g.55111467C>A	ENSP00000325128:p.Pro264His						p.P264H	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	791	+			264			Extracellular (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.791C>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	7.865	0.726850	0.15439	.	.	ENSG00000181961	ENST00000314721	T	0.00069	8.77	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	L	0.53729	1.69	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.53927	-0.8369	9	0.72032	D	0.01	.	5.8307	0.18579	0.0:0.8468:0.0:0.1532	.	264	Q8NH70	O4A16_HUMAN	H	264	ENSP00000325128:P264H	ENSP00000325128:P264H	P	+	2	0	OR4A16	54868043	0.000000	0.05858	0.161000	0.22692	0.085000	0.17905	-1.315000	0.02713	1.606000	0.50161	0.423000	0.28283	CCC		0.368	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		11	46	1	0	4.68919e-08	0.008291	6.87559e-08	11	46				
OR4C16	219428	broad.mit.edu	37	11	55339944	55339944	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55339944T>A	ENST00000314634.3	+	1	341	c.341T>A	c.(340-342)aTc>aAc	p.I114N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I114N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTCATCCTCATCCTCACGGCT	0.507																																							uc010rih.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(340-342)ATC>AAC		olfactory receptor, family 4, subfamily C,							210.0	202.0	205.0					11																	55339944		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339944T>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.341T>A	11.37:g.55339944T>A	ENSP00000324913:p.Ile114Asn						p.I114N	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	341	+		all_epithelial(135;0.0748)	114			Helical; Name=3; (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.341T>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986993	0.53934	.	.	ENSG00000181935	ENST00000314634	T	0.00932	5.53	4.88	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.186031	0.38111	N	0.001803	T	0.02610	0.0079	L	0.59436	1.845	0.09310	N	1	P	0.48503	0.911	P	0.59761	0.863	T	0.28170	-1.0052	10	0.87932	D	0	.	7.4878	0.27443	0.0:0.3614:0.0:0.6386	.	114	Q8NGL9	OR4CG_HUMAN	N	114	ENSP00000324913:I114N	ENSP00000324913:I114N	I	+	2	0	OR4C16	55096520	0.000000	0.05858	0.194000	0.23346	0.888000	0.51559	-0.375000	0.07475	0.356000	0.24157	0.448000	0.29417	ATC		0.507	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		12	96	0	0	0	0.001855	0	12	96				
OR4S2	219431	broad.mit.edu	37	11	55418981	55418981	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55418981G>T	ENST00000312422.2	+	1	602	c.602G>T	c.(601-603)aGt>aTt	p.S201I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S201I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACAGCCAACAGTGGTACCATT	0.463																																							uc001nhs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(601-603)AGT>ATT		olfactory receptor, family 4, subfamily S,							237.0	180.0	200.0					11																	55418981		2177	4048	6225	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418981G>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.602G>T	11.37:g.55418981G>T	ENSP00000310337:p.Ser201Ile						p.S201I	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	602	+		all_epithelial(135;0.0748)	201			Helical; Name=5; (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.602G>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277039	0.40294	.	.	ENSG00000174982	ENST00000312422	T	0.38240	1.15	5.35	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.092848	0.47455	D	0.000239	T	0.59742	0.2216	M	0.80746	2.51	0.09310	N	1	D	0.71674	0.998	D	0.68943	0.961	T	0.58983	-0.7539	10	0.87932	D	0	.	15.1107	0.72355	0.0:0.4176:0.5824:0.0	.	201	Q8NH73	OR4S2_HUMAN	I	201	ENSP00000310337:S201I	ENSP00000310337:S201I	S	+	2	0	OR4S2	55175557	0.028000	0.19301	0.384000	0.26145	0.691000	0.40173	0.923000	0.28757	0.571000	0.29365	0.542000	0.68232	AGT		0.463	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		31	44	1	0	1.13719e-10	0.008361	1.82956e-10	31	44				
OR4C6	219432	broad.mit.edu	37	11	55433423	55433423	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55433423G>C	ENST00000314259.3	+	1	810	c.781G>C	c.(781-783)Gtc>Ctc	p.V261L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V261L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GAGGCCTGTGGTCACTCACCC	0.488																																							uc001nht.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(781-783)GTC>CTC		olfactory receptor, family 4, subfamily C,							110.0	107.0	108.0					11																	55433423		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433423G>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.781G>C	11.37:g.55433423G>C	ENSP00000324769:p.Val261Leu					OR4C6_uc010rik.1_Missense_Mutation_p.V261L	p.V261L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1046	+			261			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.781G>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	7.869	0.727668	0.15439	.	.	ENSG00000181903	ENST00000314259	T	0.00051	8.81	4.07	0.704	0.18121	GPCR, rhodopsin-like superfamily (1);	0.985432	0.08227	N	0.978220	T	0.00109	0.0003	N	0.21448	0.665	0.09310	N	1	B	0.26318	0.146	B	0.32762	0.152	T	0.15752	-1.0426	10	0.54805	T	0.06	.	1.9494	0.03364	0.1943:0.1531:0.4964:0.1562	.	261	Q8NH72	OR4C6_HUMAN	L	261	ENSP00000324769:V261L	ENSP00000324769:V261L	V	+	1	0	OR4C6	55189999	0.000000	0.05858	0.039000	0.18376	0.537000	0.34900	-1.843000	0.01680	0.691000	0.31592	0.543000	0.68304	GTC		0.488	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		14	73	0	0	0	0.001855	0	14	73				
OR5L1	219437	broad.mit.edu	37	11	55579049	55579049	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55579049G>A	ENST00000333973.2	+	1	196	c.107G>A	c.(106-108)gGa>gAa	p.G36E		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G36E(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCATCTATGGAGTCACGTTG	0.502																																							uc001nhw.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(106-108)GGA>GAA		olfactory receptor, family 5, subfamily L,							282.0	251.0	261.0					11																	55579049		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579049G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.107G>A	11.37:g.55579049G>A	ENSP00000335529:p.Gly36Glu						p.G36E	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	107	+		all_epithelial(135;0.208)	36			Helical; Name=1; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.107G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	14.49	2.549956	0.45383	.	.	ENSG00000186117	ENST00000333973	T	0.02974	4.09	4.32	-2.07	0.07276	.	0.154564	0.31347	N	0.007815	T	0.04137	0.0115	L	0.42245	1.32	0.09310	N	1	P	0.52170	0.951	P	0.50490	0.642	T	0.30297	-0.9983	10	0.72032	D	0.01	-3.9216	7.8645	0.29528	0.0:0.1956:0.2098:0.5946	.	36	Q8NGL2	OR5L1_HUMAN	E	36	ENSP00000335529:G36E	ENSP00000335529:G36E	G	+	2	0	OR5L1	55335625	0.000000	0.05858	0.001000	0.08648	0.307000	0.27823	0.814000	0.27239	-0.060000	0.13132	0.435000	0.28638	GGA		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		33	153	0	0	0	0.004289	0	33	153				
OR5I1	10798	broad.mit.edu	37	11	55703324	55703324	+	Missense_Mutation	SNP	G	G	C	rs200048769		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55703324G>C	ENST00000301532.3	-	1	552	c.553C>G	c.(553-555)Ccc>Gcc	p.P185A		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	185					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P185A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTAAGCAGGGGAGGGAGGTCA	0.403																																							uc010ris.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)CCC>GCC		olfactory receptor, family 5, subfamily I,							61.0	67.0	65.0					11																	55703324		2200	4293	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703324G>C	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.553C>G	11.37:g.55703324G>C	ENSP00000301532:p.Pro185Ala						p.P185A	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	553	-			185			Extracellular (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.553C>G	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737112	0.49045	.	.	ENSG00000167825	ENST00000301532	T	0.00188	8.59	5.15	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000255	T	0.00210	0.0006	L	0.37750	1.13	0.25045	N	0.991179	P	0.47253	0.892	P	0.48488	0.579	T	0.51529	-0.8694	10	0.62326	D	0.03	.	10.1282	0.42663	0.1665:0.0:0.8335:0.0	.	185	Q13606	OR5I1_HUMAN	A	185	ENSP00000301532:P185A	ENSP00000301532:P185A	P	-	1	0	OR5I1	55459900	0.002000	0.14202	0.882000	0.34594	0.958000	0.62258	0.901000	0.28445	0.667000	0.31107	0.637000	0.83480	CCC		0.403	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		5	25	0	0	0	0.001168	0	5	25				
OR5F1	338674	broad.mit.edu	37	11	55761413	55761413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55761413G>T	ENST00000278409.1	-	1	688	c.689C>A	c.(688-690)tCg>tAg	p.S230*		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	230					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)	p.S230L(1)|p.S230*(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCCTCCCCCGAATGCATAGA	0.478																																							uc010riv.1		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|prostate(1)	ovary(1)|pancreas(1)	2						c.(688-690)TCG>TAG		olfactory receptor, family 5, subfamily F,							56.0	55.0	55.0					11																	55761413		2201	4296	6497	SO:0001587	stop_gained	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761413G>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.689C>A	11.37:g.55761413G>T	ENSP00000278409:p.Ser230*						p.S230*	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	689	-	Esophageal squamous(21;0.00448)		230			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Nonsense_Mutation	SNP	ENST00000278409.1	37	c.689C>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	4.496	0.092034	0.08632	.	.	ENSG00000149133	ENST00000278409	.	.	.	2.99	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8727	0.57975	0.0:0.0:1.0:0.0	.	.	.	.	X	230	.	ENSP00000278409:S230X	S	-	2	0	OR5F1	55517989	0.065000	0.20965	0.082000	0.20525	0.055000	0.15305	0.878000	0.28126	1.417000	0.47077	0.289000	0.19496	TCG		0.478	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		8	20	1	0	5.18039e-06	0.00308	6.82593e-06	8	20				
OR8H2	390151	broad.mit.edu	37	11	55872935	55872935	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55872935G>C	ENST00000313503.1	+	1	417	c.417G>C	c.(415-417)agG>agC	p.R139S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTCCAAAAGGCTCTGCCTCG	0.468										HNSCC(53;0.14)																													uc010riy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(415-417)AGG>AGC		olfactory receptor, family 8, subfamily H,							210.0	191.0	197.0					11																	55872935		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872935G>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.417G>C	11.37:g.55872935G>C	ENSP00000323982:p.Arg139Ser	HNSCC(53;0.14)					p.R139S	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	417	+	Esophageal squamous(21;0.00693)		139			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.417G>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	7.281	0.609075	0.14066	.	.	ENSG00000181767	ENST00000313503	T	0.40756	1.02	3.58	-0.129	0.13502	GPCR, rhodopsin-like superfamily (1);	0.859422	0.10237	N	0.698971	T	0.38692	0.1050	L	0.52266	1.64	0.09310	N	1	P	0.41848	0.763	P	0.46389	0.515	T	0.29366	-1.0014	10	0.09843	T	0.71	.	9.0564	0.36408	0.3994:0.0:0.6006:0.0	.	139	Q8N162	OR8H2_HUMAN	S	139	ENSP00000323982:R139S	ENSP00000323982:R139S	R	+	3	2	OR8H2	55629511	0.000000	0.05858	0.005000	0.12908	0.052000	0.14988	-1.779000	0.01777	0.082000	0.17018	0.440000	0.28878	AGG		0.468	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		6	191	0	0	0	0.006214	0	6	191				
OR8H3	390152	broad.mit.edu	37	11	55890265	55890265	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55890265G>C	ENST00000313472.3	+	1	417	c.417G>C	c.(415-417)agG>agC	p.R139S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGCCCAAAAGGCTCTGCCTCG	0.458																																							uc001nii.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(415-417)AGG>AGC		olfactory receptor, family 8, subfamily H,							158.0	141.0	147.0					11																	55890265		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890265G>C	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.417G>C	11.37:g.55890265G>C	ENSP00000323928:p.Arg139Ser						p.R139S	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	417	+	Esophageal squamous(21;0.00693)		139			Cytoplasmic (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.417G>C	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	1.530	-0.544713	0.04024	.	.	ENSG00000181761	ENST00000313472	T	0.40756	1.02	3.44	-1.02	0.10135	GPCR, rhodopsin-like superfamily (1);	0.859422	0.10237	N	0.698971	T	0.36936	0.0985	L	0.52823	1.66	0.09310	N	1	P	0.41848	0.763	P	0.46389	0.515	T	0.29181	-1.0020	10	0.10636	T	0.68	.	5.2052	0.15287	0.5958:0.1413:0.2629:0.0	.	139	Q8N146	OR8H3_HUMAN	S	139	ENSP00000323928:R139S	ENSP00000323928:R139S	R	+	3	2	OR8H3	55646841	0.000000	0.05858	0.001000	0.08648	0.153000	0.21895	-4.288000	0.00259	-0.472000	0.06881	0.173000	0.16961	AGG		0.458	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		20	96	0	0	0	0.005443	0	20	96				
OR5J2	282775	broad.mit.edu	37	11	55944482	55944482	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55944482T>A	ENST00000312298.1	+	1	389	c.389T>A	c.(388-390)tTg>tAg	p.L130*		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L130*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GTGAGTCCCTTGCTTTACACT	0.453																																							uc010rjb.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(388-390)TTG>TAG		olfactory receptor, family 5, subfamily J,							159.0	145.0	150.0					11																	55944482		2201	4296	6497	SO:0001587	stop_gained	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944482T>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.389T>A	11.37:g.55944482T>A	ENSP00000310788:p.Leu130*						p.L130*	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	389	+	Esophageal squamous(21;0.00693)		130			Cytoplasmic (Potential).		Q6IEU5	Nonsense_Mutation	SNP	ENST00000312298.1	37	c.389T>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146551	0.57044	.	.	ENSG00000174957	ENST00000312298	.	.	.	4.67	4.67	0.58626	.	0.153007	0.30285	N	0.009966	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1945	0.65662	0.0:0.0:0.0:1.0	.	.	.	.	X	130	.	ENSP00000310788:L130X	L	+	2	0	OR5J2	55701058	0.992000	0.36948	0.100000	0.21137	0.007000	0.05969	4.971000	0.63749	1.902000	0.55061	0.475000	0.43553	TTG		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		13	62	0	0	0	0.001368	0	13	62				
OR5T2	219464	broad.mit.edu	37	11	56000334	56000334	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:56000334C>T	ENST00000313264.4	-	1	403	c.328G>A	c.(328-330)Gcc>Acc	p.A110T		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A110T(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAATAGCAGGCATCCACAGAA	0.393																																							uc010rjc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(328-330)GCC>ACC		olfactory receptor, family 5, subfamily T,							90.0	86.0	87.0					11																	56000334		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000334C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.328G>A	11.37:g.56000334C>T	ENSP00000323688:p.Ala110Thr						p.A110T	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	328	-	Esophageal squamous(21;0.00448)		110			Helical; Name=2; (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.328G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	6.556	0.470882	0.12461	.	.	ENSG00000181718	ENST00000313264	T	0.01347	4.99	4.87	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	U	0.003328	T	0.01287	0.0042	N	0.25201	0.72	0.27696	N	0.945958	B	0.20780	0.048	B	0.28385	0.089	T	0.42396	-0.9454	10	0.41790	T	0.15	.	5.8726	0.18812	0.0:0.7354:0.0:0.2646	.	110	Q8NGG2	OR5T2_HUMAN	T	110	ENSP00000323688:A110T	ENSP00000323688:A110T	A	-	1	0	OR5T2	55756910	0.000000	0.05858	1.000000	0.80357	0.032000	0.12392	-0.979000	0.03774	2.413000	0.81919	0.471000	0.43371	GCC		0.393	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		6	35	0	0	0	0.001168	0	6	35				
OR8K3	219473	broad.mit.edu	37	11	56086209	56086209	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:56086209G>T	ENST00000312711.1	+	1	427	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V143L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGTATGTCAGGTGCTGGTAGC	0.413																																							uc010rjf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(427-429)GTG>TTG		olfactory receptor, family 8, subfamily K,							122.0	118.0	119.0					11																	56086209		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086209G>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.427G>T	11.37:g.56086209G>T	ENSP00000323555:p.Val143Leu						p.V143L	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	427	+	Esophageal squamous(21;0.00448)		143			Helical; Name=4; (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.427G>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	0.366	-0.936921	0.02340	.	.	ENSG00000181689	ENST00000312711	T	0.00099	8.73	4.56	0.388	0.16264	GPCR, rhodopsin-like superfamily (1);	1.004870	0.08013	N	0.990603	T	0.00039	0.0001	N	0.00595	-1.35	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.01397	-1.1365	10	0.11182	T	0.66	.	5.8115	0.18469	0.2842:0.3524:0.3633:0.0	.	143	Q8NH51	OR8K3_HUMAN	L	143	ENSP00000323555:V143L	ENSP00000323555:V143L	V	+	1	0	OR8K3	55842785	0.000000	0.05858	0.044000	0.18714	0.083000	0.17756	-3.424000	0.00475	-0.014000	0.14175	0.573000	0.79308	GTG		0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		15	65	1	0	1.52009e-12	0.003163	2.5469e-12	15	65				
OR5R1	219479	broad.mit.edu	37	11	56185388	56185388	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:56185388G>A	ENST00000312253.1	-	1	320	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F107F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CAGTGATCATGAAGGTGAGAA	0.458																																							uc010rji.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(319-321)TTC>TTT		olfactory receptor, family 5, subfamily R,							100.0	95.0	97.0					11																	56185388		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185388G>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.321C>T	11.37:g.56185388G>A							p.F107F	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	321	-	Esophageal squamous(21;0.00448)		107			Helical; Name=3; (Potential).			Silent	SNP	ENST00000312253.1	37	c.321C>T	CCDS31530.1																																																																																				0.458	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		6	25	0	0	0	0.001168	0	6	25				
OR9G4	283189	broad.mit.edu	37	11	56510984	56510984	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:56510984A>T	ENST00000302957.3	-	1	303	c.304T>A	c.(304-306)Tca>Aca	p.S102T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S102T(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTATCTTCTGAGACACAACTG	0.453																																							uc010rjo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(304-306)TCA>ACA		olfactory receptor, family 9, subfamily G,							96.0	99.0	98.0					11																	56510984		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510984A>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.304T>A	11.37:g.56510984A>T	ENSP00000307515:p.Ser102Thr						p.S102T	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	304	-			102			Extracellular (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.304T>A	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790245	0.50102	.	.	ENSG00000172457	ENST00000302957	T	0.00355	7.91	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32593	N	0.005895	T	0.00384	0.0012	L	0.33137	0.985	0.09310	N	1	D	0.69078	0.997	D	0.73380	0.98	T	0.66388	-0.5936	10	0.15499	T	0.54	-14.8624	10.045	0.42182	0.8309:0.1691:0.0:0.0	.	102	Q8NGQ1	OR9G4_HUMAN	T	102	ENSP00000307515:S102T	ENSP00000307515:S102T	S	-	1	0	OR9G4	56267560	0.000000	0.05858	0.988000	0.46212	0.917000	0.54804	0.164000	0.16542	2.131000	0.65755	0.523000	0.50628	TCA		0.453	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		20	70	0	0	0	0.008871	0	20	70				
TNKS1BP1	85456	broad.mit.edu	37	11	57077513	57077513	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:57077513C>A	ENST00000532437.1	-	5	2983	c.2672G>T	c.(2671-2673)aGa>aTa	p.R891I	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R891I|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	891	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.R891I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGAGAATCTCTCTTCCCAAA	0.537																																							uc001njr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2671-2673)AGA>ATA		tankyrase 1-binding protein 1							181.0	185.0	184.0					11																	57077513		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077513C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2672G>T	11.37:g.57077513C>A	ENSP00000437271:p.Arg891Ile					TNKS1BP1_uc001njs.2_Missense_Mutation_p.R891I|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R342I	p.R891I	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	2984	-		all_epithelial(135;0.21)	891			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2672G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054733	0.75960	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.52754	0.65;0.65	5.47	4.55	0.56014	.	0.000000	0.56097	D	0.000028	T	0.61615	0.2361	M	0.63843	1.955	0.48975	D	0.999736	D	0.71674	0.998	D	0.69142	0.962	T	0.62483	-0.6845	10	0.56958	D	0.05	-17.8128	10.5461	0.45060	0.0:0.9084:0.0:0.0916	.	891	Q9C0C2	TB182_HUMAN	I	891	ENSP00000350990:R891I;ENSP00000437271:R891I	ENSP00000350990:R891I	R	-	2	0	TNKS1BP1	56834089	0.008000	0.16893	0.997000	0.53966	0.732000	0.41865	1.213000	0.32407	2.584000	0.87258	0.462000	0.41574	AGA		0.537	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		16	115	1	0	5.3912e-06	0.006122	7.08447e-06	16	115				
SERPING1	710	broad.mit.edu	37	11	57367360	57367360	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:57367360C>A	ENST00000278407.4	+	3	287	c.60C>A	c.(58-60)gcC>gcA	p.A20A	SERPING1_ENST00000403558.1_Silent_p.A54A|SERPING1_ENST00000378324.2_5'UTR|SERPING1_ENST00000378323.4_Silent_p.A25A|SERPING1_ENST00000340687.6_Silent_p.A20A	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	20					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A20A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGGATAGAGCCTCCTCAAATC	0.468																																							uc001nkp.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(58-60)GCC>GCA		serpin peptidase inhibitor, clade G, member 1							83.0	84.0	84.0					11																	57367360		2201	4296	6497	SO:0001819	synonymous_variant	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367360C>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.60C>A	11.37:g.57367360C>A						SERPING1_uc001nkq.1_Silent_p.A20A|SERPING1_uc010rju.1_5'UTR|SERPING1_uc010rjv.1_Silent_p.A25A|SERPING1_uc001nkr.1_Silent_p.A20A|SERPING1_uc009ymi.1_Silent_p.A20A|SERPING1_uc009ymj.1_Silent_p.A20A|SERPING1_uc001nks.1_Intron	p.A20A	NM_000062	NP_000053	P05155	IC1_HUMAN			3	251	+			20					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	ENST00000278407.4	37	c.60C>A	CCDS7962.1																																																																																				0.468	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		9	45	1	0	7.48243e-07	0.006214	1.03265e-06	9	45				
OR6Q1	219952	broad.mit.edu	37	11	57799225	57799225	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:57799225G>T	ENST00000302622.3	+	1	824	c.801G>T	c.(799-801)aaG>aaT	p.K267N	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K267N(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TCCAGACCAAGGTGACCTCCT	0.498																																							uc010rjz.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(799-801)AAG>AAT		olfactory receptor, family 6, subfamily Q,							176.0	159.0	165.0					11																	57799225		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799225G>T	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.801G>T	11.37:g.57799225G>T	ENSP00000307734:p.Lys267Asn					OR9Q1_uc001nmj.2_Intron	p.K267N	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	801	+		Breast(21;0.0707)|all_epithelial(135;0.142)	267			Extracellular (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.801G>T	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	G	8.113	0.779313	0.16120	.	.	ENSG00000172381	ENST00000302622	T	0.00091	8.74	4.8	-1.92	0.07618	GPCR, rhodopsin-like superfamily (1);	0.179164	0.26708	N	0.022914	T	0.00073	0.0002	N	0.05351	-0.065	0.09310	N	1	B	0.19445	0.036	B	0.25405	0.06	T	0.14671	-1.0464	10	0.30078	T	0.28	.	5.8818	0.18860	0.5738:0.0:0.2885:0.1377	.	267	Q8NGQ2	OR6Q1_HUMAN	N	267	ENSP00000307734:K267N	ENSP00000307734:K267N	K	+	3	2	OR6Q1	57555801	0.000000	0.05858	0.408000	0.26446	0.823000	0.46562	-0.367000	0.07553	-0.474000	0.06862	-0.152000	0.13540	AAG		0.498	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		12	85	1	0	2.27111e-07	0.001368	3.21042e-07	12	85				
OR5A1	219982	broad.mit.edu	37	11	59210995	59210995	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:59210995G>T	ENST00000302030.2	+	1	379	c.354G>T	c.(352-354)ctG>ctT	p.L118L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L118L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCTCCTCCTGACTGCTATGG	0.532																																							uc001nnx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(352-354)CTG>CTT		olfactory receptor, family 5, subfamily A,							218.0	205.0	210.0					11																	59210995		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210995G>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.354G>T	11.37:g.59210995G>T							p.L118L	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	354	+			118			Helical; Name=3; (Potential).		B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.354G>T	CCDS31561.1																																																																																				0.532	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		36	141	1	0	4.14481e-20	0.00623	7.67791e-20	36	141				
OR4D11	219986	broad.mit.edu	37	11	59271184	59271184	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:59271184A>T	ENST00000313253.1	+	1	136	c.136A>T	c.(136-138)Atg>Ttg	p.M46L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M46L(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCTCCTCATCATGGTCACCGT	0.483																																							uc001noa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(136-138)ATG>TTG		olfactory receptor, family 4, subfamily D,							190.0	181.0	184.0					11																	59271184		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271184A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.136A>T	11.37:g.59271184A>T	ENSP00000320077:p.Met46Leu						p.M46L	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	136	+			46			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.136A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	A	9.932	1.215060	0.22373	.	.	ENSG00000176200	ENST00000313253	T	0.02916	4.11	5.45	-1.74	0.08056	GPCR, rhodopsin-like superfamily (1);	0.310627	0.27691	N	0.018258	T	0.01870	0.0059	N	0.20328	0.56	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	10	0.49607	T	0.09	-16.3047	6.8856	0.24197	0.2972:0.3568:0.0:0.346	.	46	Q8NGI4	OR4DB_HUMAN	L	46	ENSP00000320077:M46L	ENSP00000320077:M46L	M	+	1	0	OR4D11	59027760	0.000000	0.05858	0.853000	0.33588	0.769000	0.43574	-0.425000	0.07017	-0.610000	0.05716	-0.418000	0.06021	ATG		0.483	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		17	76	0	0	0	0.007413	0	17	76				
CD6	923	broad.mit.edu	37	11	60739346	60739346	+	Silent	SNP	C	C	A	rs188319227		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:60739346C>A	ENST00000313421.7	+	1	195	c.9C>A	c.(7-9)ctC>ctA	p.L3L	CD6_ENST00000344028.5_Silent_p.L3L|CD6_ENST00000452451.2_Silent_p.L3L|CD6_ENST00000352009.5_Silent_p.L3L|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Silent_p.L3L	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	3					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)	p.L3L(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ACATGTGGCTCTTCTTCGGGA	0.662																																					Pancreas(169;904 2017 4767 38890 42505)	Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(7-9)CTC>CTA		CD6 molecule precursor							73.0	63.0	66.0					11																	60739346		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60739346C>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.9C>A	11.37:g.60739346C>A						CD6_uc009yni.2_Silent_p.L3L|CD6_uc009ynj.2_Silent_p.L3L|CD6_uc001nqp.2_Silent_p.L3L|CD6_uc001nqr.2_Silent_p.L3L|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.L3L	p.L3L	NM_006725	NP_006716	P30203	CD6_HUMAN			1	232	+			3					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.9C>A	CCDS7999.1																																																																																				0.662	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		5	12	1	0	0.00116845	0.001168	0.00130265	5	12				
PPP1R32	220004	broad.mit.edu	37	11	61254452	61254452	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:61254452G>C	ENST00000338608.2	+	10	992	c.867G>C	c.(865-867)gtG>gtC	p.V289V	PPP1R32_ENST00000538185.1_5'Flank|PPP1R32_ENST00000366212.4_5'Flank|PPP1R32_ENST00000432063.2_Silent_p.V269V	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	289							phosphatase binding (GO:0019902)	p.V289V(1)									CCAGCAGCGTGAGTCACCAGC	0.607																																							uc001nru.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(865-867)GTG>GTC		IIIG9 protein							210.0	211.0	211.0					11																	61254452		2202	4299	6501	SO:0001819	synonymous_variant	220004							g.chr11:61254452G>C	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.867G>C	11.37:g.61254452G>C						C11orf66_uc009ynq.1_Silent_p.V269V	p.V289V	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN			10	992	+			289					Q4G0P4|Q96M77	Silent	SNP	ENST00000338608.2	37	c.867G>C	CCDS8008.1																																																																																				0.607	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		46	189	0	0	0	0.00361	0	46	189				
AHNAK	79026	broad.mit.edu	37	11	62287559	62287559	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62287559T>A	ENST00000378024.4	-	5	14604	c.14330A>T	c.(14329-14331)cAc>cTc	p.H4777L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4777					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)	p.H4777L(1)		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)				CATCTTCAGGTGCCAGTCTGG	0.537																																							uc001ntl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(14329-14331)CAC>CTC		AHNAK nucleoprotein isoform 1							218.0	212.0	214.0					11																	62287559		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287559T>A	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.14330A>T	11.37:g.62287559T>A	ENSP00000367263:p.His4777Leu					AHNAK_uc001ntk.1_Intron	p.H4777L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	14630	-		Melanoma(852;0.155)	4777					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14330A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.385625	0.25031	.	.	ENSG00000124942	ENST00000378024	T	0.00864	5.6	4.79	4.79	0.61399	.	0.239656	0.34362	N	0.004027	T	0.05273	0.0140	M	0.88842	2.985	0.36021	D	0.838758	P	0.52170	0.951	P	0.59546	0.859	T	0.48399	-0.9039	10	0.24483	T	0.36	-8.2066	14.0191	0.64543	0.0:0.0:0.0:1.0	.	4777	Q09666	AHNK_HUMAN	L	4777	ENSP00000367263:H4777L	ENSP00000367263:H4777L	H	-	2	0	AHNAK	62044135	0.005000	0.15991	1.000000	0.80357	0.206000	0.24218	1.688000	0.37690	1.792000	0.52537	0.391000	0.25812	CAC		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		36	172	0	0	0	0.005524	0	36	172				
AHNAK	79026	broad.mit.edu	37	11	62301100	62301100	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62301100C>A	ENST00000378024.4	-	5	1063	c.789G>T	c.(787-789)aaG>aaT	p.K263N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	263					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)	p.K263N(1)		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)				AGTCCAAGCCCTTTGCATTGA	0.572																																							uc001ntl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(787-789)AAG>AAT		AHNAK nucleoprotein isoform 1							100.0	86.0	91.0					11																	62301100		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62301100C>A	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.789G>T	11.37:g.62301100C>A	ENSP00000367263:p.Lys263Asn					AHNAK_uc001ntk.1_Intron	p.K263N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	1089	-		Melanoma(852;0.155)	263					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.789G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114790	0.20795	.	.	ENSG00000124942	ENST00000378024	T	0.00753	5.74	5.64	4.72	0.59763	.	0.190133	0.25349	U	0.031318	T	0.03695	0.0105	M	0.82056	2.57	0.26976	N	0.965478	D	0.63880	0.993	D	0.75484	0.986	T	0.35351	-0.9792	10	0.19147	T	0.46	-1.3006	11.4169	0.49958	0.0:0.9113:0.0:0.0887	.	263	Q09666	AHNK_HUMAN	N	263	ENSP00000367263:K263N	ENSP00000367263:K263N	K	-	3	2	AHNAK	62057676	0.990000	0.36364	0.993000	0.49108	0.096000	0.18686	0.569000	0.23638	1.370000	0.46153	0.655000	0.94253	AAG		0.572	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		16	60	1	0	2.31682e-05	0.003163	2.9206e-05	16	60				
EML3	256364	broad.mit.edu	37	11	62378705	62378705	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62378705C>T	ENST00000394773.2	-	3	613	c.306G>A	c.(304-306)ctG>ctA	p.L102L	EML3_ENST00000531557.1_5'Flank|EML3_ENST00000494176.2_Silent_p.L74L|EML3_ENST00000529309.1_Silent_p.L102L|ROM1_ENST00000278833.3_5'Flank|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000278845.4_Silent_p.L103L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	102						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.L102L(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCATTGCTCAGGCCAGGGG	0.682																																							uc001ntu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(304-306)CTG>CTA		echinoderm microtubule associated protein like							16.0	19.0	18.0					11																	62378705		2172	4236	6408	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62378705C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.306G>A	11.37:g.62378705C>T						EML3_uc001ntr.1_Silent_p.L74L|EML3_uc001nts.1_Silent_p.L74L|EML3_uc001ntt.1_5'UTR|EML3_uc010rly.1_Silent_p.L102L|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	p.L102L	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			3	614	-			102					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.306G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	9.852	1.193820	0.22037	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.05	1.91	0.25777	.	.	.	.	.	T	0.54532	0.1864	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46470	-0.9189	4	.	.	.	-11.8682	6.8579	0.24050	0.0:0.5651:0.3407:0.0943	.	.	.	.	K	97	.	.	E	-	1	0	EML3	62135281	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.542000	0.23222	0.633000	0.30452	0.462000	0.41574	GAG		0.682	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		4	18	0	0	0	0.009096	0	4	18				
GANAB	23193	broad.mit.edu	37	11	62400518	62400518	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62400518C>T	ENST00000356638.3	-	8	790	c.774G>A	c.(772-774)ggG>ggA	p.G258G	GANAB_ENST00000540933.1_Silent_p.G161G|GANAB_ENST00000346178.4_Silent_p.G280G|GANAB_ENST00000534779.1_Silent_p.G166G|GANAB_ENST00000534422.1_5'UTR	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	258					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.G258G(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GCTCAGGGATCCCATAGACAT	0.522																																					Melanoma(23;1005 1074 15747 18937)	Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(772-774)GGG>GGA		neutral alpha-glucosidase AB isoform 2							117.0	102.0	107.0					11																	62400518		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400518C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.774G>A	11.37:g.62400518C>T						GANAB_uc001nua.2_Silent_p.G280G|GANAB_uc001nuc.2_Silent_p.G161G|GANAB_uc010rma.1_Silent_p.G166G|GANAB_uc010rmb.1_Silent_p.G144G	p.G258G	NM_198334	NP_938148	Q14697	GANAB_HUMAN			8	807	-			258					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.774G>A	CCDS8026.1																																																																																				0.522	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		6	36	0	0	0	0.001168	0	6	36				
GANAB	23193	broad.mit.edu	37	11	62402453	62402453	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62402453C>T	ENST00000356638.3	-	5	416	c.400G>A	c.(400-402)Gat>Aat	p.D134N	GANAB_ENST00000540933.1_Missense_Mutation_p.D37N|GANAB_ENST00000346178.4_Missense_Mutation_p.D134N|GANAB_ENST00000534779.1_Missense_Mutation_p.D20N|GANAB_ENST00000534422.1_5'UTR	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	134					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.D134N(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CTGTTCTCATCACGACCAGAG	0.468																																					Melanoma(23;1005 1074 15747 18937)	Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(400-402)GAT>AAT		neutral alpha-glucosidase AB isoform 2							127.0	115.0	119.0					11																	62402453		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62402453C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.400G>A	11.37:g.62402453C>T	ENSP00000349053:p.Asp134Asn					GANAB_uc001nua.2_Missense_Mutation_p.D134N|GANAB_uc001nuc.2_Missense_Mutation_p.D37N|GANAB_uc010rma.1_Missense_Mutation_p.D20N|GANAB_uc010rmb.1_Missense_Mutation_p.D20N	p.D134N	NM_198334	NP_938148	Q14697	GANAB_HUMAN			5	433	-			134					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.400G>A	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484435	0.63962	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933;ENST00000525994	D;D;D;D;T	0.90385	-2.03;-2.03;-2.66;-2.03;0.81	5.15	5.15	0.70609	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	M	0.63428	1.95	0.80722	D	1	P;P;B;B	0.40602	0.551;0.723;0.102;0.151	B;B;B;B	0.43155	0.214;0.41;0.082;0.07	D	0.90900	0.4768	10	0.52906	T	0.07	-21.5067	16.1601	0.81698	0.0:1.0:0.0:0.0	.	20;20;134;134	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	N	134;134;20;37;20	ENSP00000340466:D134N;ENSP00000349053:D134N;ENSP00000435306:D20N;ENSP00000442962:D37N;ENSP00000434805:D20N	ENSP00000340466:D134N	D	-	1	0	GANAB	62159029	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.786000	0.75094	2.692000	0.91855	0.655000	0.94253	GAT		0.468	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		10	59	0	0	0	0.008291	0	10	59				
INTS5	80789	broad.mit.edu	37	11	62415445	62415445	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62415445C>T	ENST00000330574.2	-	2	2159	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	703					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.E703K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCAAACAGTTCTGTGTTGCCT	0.552																																							uc001nud.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2107-2109)GAA>AAA		integrator complex subunit 5							93.0	94.0	93.0					11																	62415445		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415445C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2107G>A	11.37:g.62415445C>T	ENSP00000327889:p.Glu703Lys					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.E703K	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	2160	-			703					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2107G>A	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	7.722	0.697311	0.15106	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.44	5.44	0.79542	.	0.182153	0.47852	D	0.000204	T	0.27098	0.0664	N	0.14661	0.345	0.43740	D	0.996235	P	0.45827	0.867	B	0.35550	0.205	T	0.11299	-1.0593	9	0.10636	T	0.68	.	16.8112	0.85720	0.0:1.0:0.0:0.0	.	703	Q6P9B9	INT5_HUMAN	K	703	.	ENSP00000327889:E703K	E	-	1	0	INTS5	62172021	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	5.165000	0.64959	2.837000	0.97791	0.655000	0.94253	GAA		0.552	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		7	38	0	0	0	0.006214	0	7	38				
INTS5	80789	broad.mit.edu	37	11	62415784	62415784	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62415784C>T	ENST00000330574.2	-	2	1820	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	590					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.E590K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCAGGGCCCTCGCCACCCTGC	0.622																																							uc001nud.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1768-1770)GAG>AAG		integrator complex subunit 5							42.0	42.0	42.0					11																	62415784		2202	4298	6500	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415784C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1768G>A	11.37:g.62415784C>T	ENSP00000327889:p.Glu590Lys					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.E590K	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1821	-			590					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1768G>A	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	2.113	-0.403178	0.04865	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.44	4.54	0.55810	.	0.319059	0.33005	N	0.005397	T	0.14743	0.0356	N	0.08118	0	0.27113	N	0.962325	B	0.16396	0.017	B	0.11329	0.006	T	0.28004	-1.0057	9	0.02654	T	1	-2.4776	8.0995	0.30848	0.0:0.8246:0.0:0.1754	.	590	Q6P9B9	INT5_HUMAN	K	590	.	ENSP00000327889:E590K	E	-	1	0	INTS5	62172360	0.960000	0.32886	0.885000	0.34714	0.309000	0.27889	3.929000	0.56514	1.544000	0.49359	0.655000	0.94253	GAG		0.622	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		5	33	0	0	0	0.000602	0	5	33				
UQCC3	790955	broad.mit.edu	37	11	62439292	62439292	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62439292C>T	ENST00000531323.1	+	2	618	c.75C>T	c.(73-75)ctC>ctT	p.L25L	C11orf83_ENST00000377953.3_Silent_p.L25L|C11orf48_ENST00000431002.2_5'Flank|C11orf48_ENST00000354588.3_5'Flank|C11orf48_ENST00000532208.1_5'Flank			Q6UW78	CK083_HUMAN		25						extracellular region (GO:0005576)		p.L25L(1)		cervix(1)|lung(1)|prostate(1)	3						ACGCGCTCCTCGTTATCGTGA	0.642																																							uc001nui.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(73-75)CTC>CTT		hypothetical protein LOC790955 precursor							30.0	37.0	35.0					11																	62439292		2086	4232	6318	SO:0001819	synonymous_variant	790955					extracellular region		g.chr11:62439292C>T																												ENST00000531323.1:c.75C>T	11.37:g.62439292C>T						C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank	p.L25L	NM_001085372	NP_001078841	Q6UW78	CK083_HUMAN			1	167	+			25					Q5FVD5	Silent	SNP	ENST00000531323.1	37	c.75C>T	CCDS41658.1																																																																																				0.642	C11orf83-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394992.2			7	33	0	0	0	0.001984	0	7	33				
UBXN1	51035	broad.mit.edu	37	11	62444306	62444306	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62444306C>G	ENST00000301935.5	-	8	989	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	UBXN1_ENST00000294119.2_Missense_Mutation_p.E275Q|UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000529640.1_Missense_Mutation_p.E271Q|UBXN1_ENST00000533000.1_Intron			Q04323	UBXN1_HUMAN	UBX domain protein 1	275	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.E275Q(1)		endometrium(5)|lung(12)	17						AGAGGCCGCTCCATGTCAGCT	0.587																																							uc001nul.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(823-825)GAG>CAG		UBX domain protein 1							103.0	110.0	107.0					11																	62444306		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62444306C>G		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.823G>C	11.37:g.62444306C>G	ENSP00000303991:p.Glu275Gln					UBXN1_uc001nuj.2_Missense_Mutation_p.E275Q|UBXN1_uc001num.1_Missense_Mutation_p.E271Q|UBXN1_uc001nuk.2_3'UTR|UBXN1_uc010rme.1_3'UTR	p.E275Q	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			8	955	-			275			UBX.|Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.823G>C		.	.	.	.	.	.	.	.	.	.	C	22.8	4.339034	0.81911	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.24723	1.84;1.88;1.89;1.89	5.24	5.24	0.73138	UBX (3);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	L	0.61387	1.9	0.80722	D	1	D;P;P	0.76494	0.999;0.563;0.821	D;P;P	0.87578	0.998;0.536;0.515	T	0.32903	-0.9889	10	0.45353	T	0.12	-11.8279	17.1357	0.86739	0.0:1.0:0.0:0.0	.	271;275;275	E9PRQ7;Q04323;Q04323-2	.;UBXN1_HUMAN;.	Q	275;275;178;271;275	ENSP00000294119:E275Q;ENSP00000303991:E275Q;ENSP00000435964:E271Q;ENSP00000435625:E275Q	ENSP00000294119:E275Q	E	-	1	0	UBXN1	62200882	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.291000	0.72719	2.828000	0.97474	0.655000	0.94253	GAG		0.587	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		24	106	0	0	0	0.003954	0	24	106				
UBXN1	51035	broad.mit.edu	37	11	62444318	62444318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62444318C>A	ENST00000301935.5	-	8	977	c.811G>T	c.(811-813)Gaa>Taa	p.E271*	UBXN1_ENST00000294119.2_Nonsense_Mutation_p.E271*|UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000529640.1_Nonsense_Mutation_p.E267*|UBXN1_ENST00000533000.1_Intron			Q04323	UBXN1_HUMAN	UBX domain protein 1	271	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.E271*(1)		endometrium(5)|lung(12)	17						ATGTCAGCTTCTGAGAAGGCC	0.592																																							uc001nul.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(811-813)GAA>TAA		UBX domain protein 1							99.0	106.0	104.0					11																	62444318		2202	4299	6501	SO:0001587	stop_gained	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62444318C>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.811G>T	11.37:g.62444318C>A	ENSP00000303991:p.Glu271*					UBXN1_uc001nuj.2_Nonsense_Mutation_p.E271*|UBXN1_uc001num.1_Nonsense_Mutation_p.E267*|UBXN1_uc001nuk.2_3'UTR|UBXN1_uc010rme.1_3'UTR	p.E271*	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			8	943	-			271			UBX.|Interaction with BRCA1.		Q9BV93|Q9BVV5	Nonsense_Mutation	SNP	ENST00000301935.5	37	c.811G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.222521	0.95139	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	.	.	.	5.35	4.44	0.53790	.	0.044478	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-14.417	12.6224	0.56610	0.0:0.9178:0.0:0.0822	.	.	.	.	X	271;271;174;267;271	.	ENSP00000294119:E271X	E	-	1	0	UBXN1	62200894	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	6.291000	0.72719	1.587000	0.49959	0.655000	0.94253	GAA		0.592	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		25	102	1	0	1.77063e-15	0.005443	3.10607e-15	25	102				
UBXN1	51035	broad.mit.edu	37	11	62445457	62445457	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62445457C>T	ENST00000301935.5	-	5	590	c.424G>A	c.(424-426)Gag>Aag	p.E142K	UBXN1_ENST00000294119.2_Missense_Mutation_p.E142K|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.E142K|UBXN1_ENST00000533000.1_5'Flank			Q04323	UBXN1_HUMAN	UBX domain protein 1	142	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.E142K(1)		endometrium(5)|lung(12)	17						CGGCGCATCTCATCTTCCTGT	0.577																																							uc001nul.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(424-426)GAG>AAG		UBX domain protein 1							74.0	62.0	66.0					11																	62445457		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445457C>T		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.424G>A	11.37:g.62445457C>T	ENSP00000303991:p.Glu142Lys					UBXN1_uc001nuj.2_Missense_Mutation_p.E142K|UBXN1_uc001num.1_Missense_Mutation_p.E142K|UBXN1_uc001nuk.2_Missense_Mutation_p.E107K|UBXN1_uc010rme.1_Missense_Mutation_p.E142K|UBXN1_uc010rmf.1_3'UTR	p.E142K	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			5	556	-			142			Potential.|Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.424G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.534429	0.96460	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.30981	1.51;1.59;1.55;1.61	5.31	5.31	0.75309	.	0.043806	0.85682	D	0.000000	T	0.49558	0.1564	L	0.52905	1.665	0.80722	D	1	D;D;D;D	0.76494	0.989;0.989;0.999;0.997	P;P;D;D	0.64042	0.714;0.714;0.921;0.921	T	0.37478	-0.9704	10	0.51188	T	0.08	-13.4729	17.291	0.87156	0.0:1.0:0.0:0.0	.	142;142;142;142	B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;UBXN1_HUMAN;.	K	142;142;45;142;142	ENSP00000294119:E142K;ENSP00000303991:E142K;ENSP00000435964:E142K;ENSP00000435625:E142K	ENSP00000294119:E142K	E	-	1	0	UBXN1	62202033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.538000	0.53597	2.873000	0.98535	0.561000	0.74099	GAG		0.577	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		8	30	0	0	0	0.004482	0	8	30				
UBXN1	51035	broad.mit.edu	37	11	62445970	62445970	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62445970C>G	ENST00000301935.5	-	3	383	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	UBXN1_ENST00000294119.2_Missense_Mutation_p.E73Q|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.E73Q|UBXN1_ENST00000533000.1_5'Flank			Q04323	UBXN1_HUMAN	UBX domain protein 1	73	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.E73Q(1)		endometrium(5)|lung(12)	17						TCAGGACCTTCAAGGCCGCCT	0.532																																							uc001nul.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(217-219)GAA>CAA		UBX domain protein 1							81.0	84.0	83.0					11																	62445970		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445970C>G		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.217G>C	11.37:g.62445970C>G	ENSP00000303991:p.Glu73Gln					UBXN1_uc001nuj.2_Missense_Mutation_p.E73Q|UBXN1_uc001num.1_Missense_Mutation_p.E73Q|UBXN1_uc001nuk.2_Missense_Mutation_p.E38Q|UBXN1_uc010rme.1_Missense_Mutation_p.E73Q|UBXN1_uc010rmf.1_Missense_Mutation_p.E73Q	p.E73Q	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			3	349	-			73			Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.217G>C		.	.	.	.	.	.	.	.	.	.	C	14.02	2.411112	0.42817	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000529640;ENST00000534176	T;T;T;T	0.24908	1.83;1.83;1.84;1.83	5.61	4.7	0.59300	.	0.728629	0.14366	N	0.324130	T	0.22704	0.0548	L	0.42245	1.32	0.41506	D	0.988319	P;B;B;B;B	0.50272	0.933;0.012;0.012;0.012;0.161	B;B;B;B;B	0.39706	0.307;0.025;0.021;0.021;0.107	T	0.02983	-1.1086	10	0.34782	T	0.22	.	12.6682	0.56853	0.0:0.9201:0.0:0.0799	.	73;73;73;73;73	B4DU88;B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;.;UBXN1_HUMAN;.	Q	73	ENSP00000294119:E73Q;ENSP00000303991:E73Q;ENSP00000435964:E73Q;ENSP00000435625:E73Q	ENSP00000294119:E73Q	E	-	1	0	UBXN1	62202546	0.998000	0.40836	0.860000	0.33809	0.687000	0.40016	3.046000	0.49846	1.536000	0.49237	0.655000	0.94253	GAA		0.532	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		6	47	0	0	0	0.001984	0	6	47				
UBXN1	51035	broad.mit.edu	37	11	62446042	62446042	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62446042C>A	ENST00000301935.5	-	3	311	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	UBXN1_ENST00000294119.2_Missense_Mutation_p.D49Y|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.D49Y|UBXN1_ENST00000533000.1_5'Flank			Q04323	UBXN1_HUMAN	UBX domain protein 1	49	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.D49Y(1)		endometrium(5)|lung(12)	17						AAAGGCTCGTCCACATCGGGG	0.632																																							uc001nul.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(145-147)GAC>TAC		UBX domain protein 1							67.0	70.0	69.0					11																	62446042		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62446042C>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.145G>T	11.37:g.62446042C>A	ENSP00000303991:p.Asp49Tyr					UBXN1_uc001nuj.2_Missense_Mutation_p.D49Y|UBXN1_uc001num.1_Missense_Mutation_p.D49Y|UBXN1_uc001nuk.2_Missense_Mutation_p.D14Y|UBXN1_uc010rme.1_Missense_Mutation_p.D49Y|UBXN1_uc010rmf.1_Missense_Mutation_p.D49Y	p.D49Y	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			3	277	-			49			Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	C	30	5.054046	0.93793	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000529640;ENST00000534176	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.51	5.51	0.81932	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.73430	2.235	0.80722	D	1	D;D;D;P;D	0.89917	1.0;0.998;1.0;0.91;1.0	D;P;D;P;D	0.91635	0.95;0.879;0.996;0.62;0.999	T	0.53892	-0.8374	10	0.72032	D	0.01	-10.6027	17.2949	0.87168	0.0:1.0:0.0:0.0	.	49;49;49;49;49	B4DU88;B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;.;UBXN1_HUMAN;.	Y	49	ENSP00000294119:D49Y;ENSP00000303991:D49Y;ENSP00000435964:D49Y;ENSP00000435625:D49Y	ENSP00000294119:D49Y	D	-	1	0	UBXN1	62202618	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	5.337000	0.65941	2.779000	0.95612	0.655000	0.94253	GAC		0.632	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		5	39	1	0	0.000157383	0.00308	0.000187214	5	39				
UBXN1	51035	broad.mit.edu	37	11	62446048	62446048	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62446048C>A	ENST00000301935.5	-	3	305	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	UBXN1_ENST00000294119.2_Missense_Mutation_p.D47Y|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.D47Y|UBXN1_ENST00000533000.1_5'Flank			Q04323	UBXN1_HUMAN	UBX domain protein 1	47	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.D47Y(1)		endometrium(5)|lung(12)	17						TCGTCCACATCGGGGTCGTCT	0.637																																							uc001nul.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(139-141)GAT>TAT		UBX domain protein 1							64.0	67.0	66.0					11																	62446048		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62446048C>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.139G>T	11.37:g.62446048C>A	ENSP00000303991:p.Asp47Tyr					UBXN1_uc001nuj.2_Missense_Mutation_p.D47Y|UBXN1_uc001num.1_Missense_Mutation_p.D47Y|UBXN1_uc001nuk.2_Missense_Mutation_p.D12Y|UBXN1_uc010rme.1_Missense_Mutation_p.D47Y|UBXN1_uc010rmf.1_Missense_Mutation_p.D47Y	p.D47Y	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			3	271	-			47			Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.139G>T		.	.	.	.	.	.	.	.	.	.	C	28.6	4.934554	0.92458	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000529640;ENST00000534176	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.51	4.6	0.57074	UBA-like (1);	0.091027	0.64402	D	0.000001	T	0.52565	0.1742	M	0.72894	2.215	0.54753	D	0.999983	D;D;P;D;D	0.89917	1.0;0.999;0.91;0.99;0.999	D;D;P;P;D	0.75020	0.985;0.931;0.605;0.792;0.951	T	0.56571	-0.7957	10	0.72032	D	0.01	-12.6338	12.1964	0.54300	0.0:0.9171:0.0:0.0829	.	47;47;47;47;47	B4DU88;B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;.;UBXN1_HUMAN;.	Y	47	ENSP00000294119:D47Y;ENSP00000303991:D47Y;ENSP00000435964:D47Y;ENSP00000435625:D47Y	ENSP00000294119:D47Y	D	-	1	0	UBXN1	62202624	0.999000	0.42202	0.998000	0.56505	0.983000	0.72400	5.337000	0.65941	1.481000	0.48307	0.655000	0.94253	GAT		0.637	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		7	40	1	0	0.000442599	0.006214	0.000512261	7	40				
UBXN1	51035	broad.mit.edu	37	11	62446178	62446178	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62446178C>T	ENST00000301935.5	-	2	263	c.97G>A	c.(97-99)Gag>Aag	p.E33K	UBXN1_ENST00000294119.2_Missense_Mutation_p.E33K|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.E33K|UBXN1_ENST00000533000.1_5'Flank			Q04323	UBXN1_HUMAN	UBX domain protein 1	33	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.E33K(1)		endometrium(5)|lung(12)	17						ATCGCAGCCTCGATGCCCTGG	0.652																																							uc001nul.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(97-99)GAG>AAG		UBX domain protein 1							28.0	27.0	27.0					11																	62446178		2196	4297	6493	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62446178C>T		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.97G>A	11.37:g.62446178C>T	ENSP00000303991:p.Glu33Lys					UBXN1_uc001nuj.2_Missense_Mutation_p.E33K|UBXN1_uc001num.1_Missense_Mutation_p.E33K|UBXN1_uc001nuk.2_5'UTR|UBXN1_uc010rme.1_Missense_Mutation_p.E33K|UBXN1_uc010rmf.1_Missense_Mutation_p.E33K	p.E33K	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			2	229	-			33			UBA.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.97G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.114122	0.97296	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000529640;ENST00000534176	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.64	5.64	0.86602	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	H	0.94620	3.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.996;1.0	D;D;D;P;D	0.80764	0.97;0.97;0.992;0.825;0.994	T	0.81364	-0.0966	10	0.72032	D	0.01	-10.6018	17.585	0.87979	0.0:1.0:0.0:0.0	.	33;33;33;33;33	B4DU88;B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;.;UBXN1_HUMAN;.	K	33	ENSP00000294119:E33K;ENSP00000303991:E33K;ENSP00000435964:E33K;ENSP00000435625:E33K	ENSP00000294119:E33K	E	-	1	0	UBXN1	62202754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.337000	0.65941	2.837000	0.97791	0.655000	0.94253	GAG		0.652	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		4	11	0	0	0	0.009096	0	4	11				
GNG3	2785	broad.mit.edu	37	11	62476249	62476249	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62476249G>T	ENST00000294117.5	+	3	458	c.199G>T	c.(199-201)Gag>Tag	p.E67*	HNRNPUL2-BSCL2_ENST00000403734.2_Intron|BSCL2_ENST00000421906.1_5'Flank|BSCL2_ENST00000407022.3_5'Flank|BSCL2_ENST00000405837.1_Intron|BSCL2_ENST00000433053.1_Intron|BSCL2_ENST00000403550.1_5'Flank|BSCL2_ENST00000278893.7_5'Flank|BSCL2_ENST00000360796.5_5'Flank|BSCL2_ENST00000537604.1_5'Flank	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3	67					activation of MAPK activity (GO:0000187)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.E67*(1)		kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						CCCCTTCCGGGAGAAGAAGTT	0.567																																							uc001nuv.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(199-201)GAG>TAG		guanine nucleotide binding protein (G protein),							97.0	97.0	97.0					11																	62476249		2202	4299	6501	SO:0001587	stop_gained	2785				activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission		GTPase activity|signal transducer activity	g.chr11:62476249G>T	AF075042	CCDS8032.1	11p11	2008-07-18				ENSG00000162188			4405	protein-coding gene	gene with protein product	"""guanine nucleotide-binding protein gamma-3 subunit"", ""NBP gamma-3"""	608941				10644457	Standard	NM_012202		Approved		uc001nuv.4	P63215		ENST00000294117.5:c.199G>T	11.37:g.62476249G>T	ENSP00000294117:p.Glu67*					BSCL2_uc001nuo.1_5'Flank|BSCL2_uc009yoc.1_5'Flank|BSCL2_uc001nup.2_5'Flank|BSCL2_uc001nuq.1_5'Flank|BSCL2_uc001nur.3_5'Flank|BSCL2_uc009yod.2_Intron|BSCL2_uc001nut.3_Intron|HNRNPUL2_uc001nuu.1_Intron	p.E67*	NM_012202	NP_036334	P63215	GBG3_HUMAN			3	474	+			67					B2R4S7|P29798|Q61014	Nonsense_Mutation	SNP	ENST00000294117.5	37	c.199G>T	CCDS8032.1	.	.	.	.	.	.	.	.	.	.	G	37	6.244475	0.97408	.	.	ENSG00000162188	ENST00000294117	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.3187	16.9474	0.86233	0.0:0.0:1.0:0.0	.	.	.	.	X	67	.	ENSP00000294117:E67X	E	+	1	0	GNG3	62232825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.366000	0.97143	2.584000	0.87258	0.558000	0.71614	GAG		0.567	GNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395020.1	NM_012202		11	53	1	0	1.61879e-10	0.001368	2.59577e-10	11	53				
TTC9C	283237	broad.mit.edu	37	11	62502894	62502894	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62502894G>T	ENST00000316461.4	+	2	589	c.279G>T	c.(277-279)gtG>gtT	p.V93V	TTC9C_ENST00000513247.2_3'UTR|TTC9C_ENST00000532583.1_Silent_p.V93V	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	93								p.V93V(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ACGAACGAGTGAGAGAATATA	0.512																																							uc001nuy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(277-279)GTG>GTT		tetratricopeptide repeat domain 9C							91.0	75.0	81.0					11																	62502894		2202	4299	6501	SO:0001819	synonymous_variant	283237						binding	g.chr11:62502894G>T	BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"""Tetratricopeptide (TTC) repeat domain containing"""	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.279G>T	11.37:g.62502894G>T						TTC9C_uc001nux.2_Silent_p.V226V	p.V93V	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN			2	648	+			93			TPR 2.		Q8WYY7	Silent	SNP	ENST00000316461.4	37	c.279G>T	CCDS8033.1																																																																																				0.512	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1	NM_173810		9	42	1	0	3.86212e-05	0.008291	4.78167e-05	9	42				
TTC9C	283237	broad.mit.edu	37	11	62502931	62502931	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62502931G>C	ENST00000316461.4	+	2	626	c.316G>C	c.(316-318)Gat>Cat	p.D106H	TTC9C_ENST00000513247.2_3'UTR|TTC9C_ENST00000532583.1_Missense_Mutation_p.D106H	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	106								p.D106H(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ACGACAGCCTGATAATGCCAA	0.532																																							uc001nuy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(316-318)GAT>CAT		tetratricopeptide repeat domain 9C							93.0	75.0	81.0					11																	62502931		2202	4299	6501	SO:0001583	missense	283237						binding	g.chr11:62502931G>C	BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"""Tetratricopeptide (TTC) repeat domain containing"""	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.316G>C	11.37:g.62502931G>C	ENSP00000325266:p.Asp106His					TTC9C_uc001nux.2_Missense_Mutation_p.D239H	p.D106H	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN			2	685	+			106			TPR 2.		Q8WYY7	Missense_Mutation	SNP	ENST00000316461.4	37	c.316G>C	CCDS8033.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342125	0.41498	.	.	ENSG00000162222	ENST00000530625;ENST00000316461;ENST00000532583;ENST00000532276	T;T;T;T	0.75367	-0.93;2.18;2.18;-0.93	6.04	1.95	0.26073	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.62780	0.2456	L	0.48362	1.52	0.45216	D	0.998222	B	0.06786	0.001	B	0.08055	0.003	T	0.58775	-0.7577	9	0.45353	T	0.12	.	5.7973	0.18394	0.2255:0.0:0.6362:0.1383	.	106	Q8N5M4	TTC9C_HUMAN	H	106;106;106;4	ENSP00000435282:D106H;ENSP00000325266:D106H;ENSP00000434340:D106H;ENSP00000434137:D4H	ENSP00000325266:D106H	D	+	1	0	TTC9C	62259507	0.938000	0.31826	0.997000	0.53966	0.996000	0.88848	1.747000	0.38298	0.885000	0.36088	0.563000	0.77884	GAT		0.532	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1	NM_173810		10	42	0	0	0	0.000978	0	10	42				
SLC22A12	116085	broad.mit.edu	37	11	64360942	64360942	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:64360942C>A	ENST00000377574.1	+	3	1319	c.572C>A	c.(571-573)gCc>gAc	p.A191D	SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377567.2_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	191					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.A191D(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	ACGGCAGCTGCCTTCGCCCCT	0.617																																							uc001oam.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(571-573)GCC>GAC		urate anion exchanger 1 isoform a							103.0	89.0	94.0					11																	64360942		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64360942C>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.572C>A	11.37:g.64360942C>A	ENSP00000366797:p.Ala191Asp					SLC22A12_uc009ypr.1_Missense_Mutation_p.A191D|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Missense_Mutation_p.A9D	p.A191D	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			3	1319	+			191			Helical; (Potential).		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.572C>A	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182378	0.57800	.	.	ENSG00000197891	ENST00000377574	T	0.65178	-0.14	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84687	0.5527	H	0.96301	3.8	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.67900	0.954;0.954	D	0.89874	0.4025	10	0.87932	D	0	.	15.3735	0.74587	0.0:1.0:0.0:0.0	.	191;191	B3KV05;Q96S37	.;S22AC_HUMAN	D	191	ENSP00000366797:A191D	ENSP00000366797:A191D	A	+	2	0	SLC22A12	64117518	0.931000	0.31567	0.086000	0.20670	0.017000	0.09413	2.801000	0.47908	2.187000	0.69744	0.561000	0.74099	GCC		0.617	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		7	49	1	0	1.12685e-05	0.004482	1.44938e-05	7	49				
NRXN2	9379	broad.mit.edu	37	11	64419599	64419599	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:64419599C>T	ENST00000377551.1	-	12	2655	c.2444G>A	c.(2443-2445)gGg>gAg	p.G815E	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.G808E|NRXN2_ENST00000377559.3_Missense_Mutation_p.G775E|NRXN2_ENST00000265459.6_Missense_Mutation_p.G815E			Q9P2S2	NRX2A_HUMAN	neurexin 2	815	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.G815E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAGCTTGTGCCCCGCAAACAG	0.572																																							uc001oar.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2443-2445)GGG>GAG		neurexin 2 isoform alpha-1 precursor							111.0	77.0	88.0					11																	64419599		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64419599C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2444G>A	11.37:g.64419599C>T	ENSP00000366774:p.Gly815Glu					NRXN2_uc001oas.2_Missense_Mutation_p.G775E|NRXN2_uc001oaq.2_Missense_Mutation_p.G482E	p.G815E	NM_015080	NP_055895	P58401	NRX2B_HUMAN			14	2883	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2444G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016727	0.93404	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43260	U	0.000584	D	0.89581	0.6756	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.998	D;D;D	0.97110	1.0;0.951;0.971	D	0.90058	0.4154	10	0.52906	T	0.07	.	15.6201	0.76799	0.0:1.0:0.0:0.0	.	775;815;561	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	E	815;775;815;775;808	ENSP00000366774:G815E;ENSP00000366782:G775E;ENSP00000265459:G815E;ENSP00000386416:G808E	ENSP00000265459:G815E	G	-	2	0	NRXN2	64176175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.610000	0.82949	2.553000	0.86117	0.561000	0.74099	GGG		0.572	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		6	15	0	0	0	0.001168	0	6	15				
TM7SF2	7108	broad.mit.edu	37	11	64883491	64883491	+	Missense_Mutation	SNP	G	G	C	rs377534768		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:64883491G>C	ENST00000279263.7	+	10	1385	c.1223G>C	c.(1222-1224)cGt>cCt	p.R408P	AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000540748.1_Missense_Mutation_p.R292P|TM7SF2_ENST00000345348.5_Missense_Mutation_p.R381P	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	408					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)	p.R408P(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACTGCCGGCGTGTGCCTTAC	0.647																																							uc001oct.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1222-1224)CGT>CCT		transmembrane 7 superfamily member 2							38.0	43.0	41.0					11																	64883491		2107	4205	6312	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64883491G>C	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.1223G>C	11.37:g.64883491G>C	ENSP00000279263:p.Arg408Pro					TM7SF2_uc010rny.1_Missense_Mutation_p.R292P|TM7SF2_uc001ocu.2_Missense_Mutation_p.R381P|TM7SF2_uc001ocv.2_Missense_Mutation_p.R429P|uc009yqb.1_5'Flank	p.R408P	NM_003273	NP_003264	O76062	ERG24_HUMAN			10	1370	+			408					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.1223G>C	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885549	0.72410	.	.	ENSG00000149809	ENST00000279263;ENST00000540748;ENST00000345348	D;D;D	0.98090	-4.71;-4.71;-4.71	5.39	3.53	0.40419	.	1.368040	0.05227	N	0.509580	D	0.98937	0.9639	M	0.94021	3.485	0.36302	D	0.857099	P;D;P	0.54047	0.855;0.964;0.95	P;P;D	0.64237	0.737;0.874;0.923	D	0.94149	0.7404	10	0.34782	T	0.22	-21.2001	9.8179	0.40865	0.1654:0.0:0.8346:0.0	.	292;381;408	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	P	408;292;381	ENSP00000279263:R408P;ENSP00000441215:R292P;ENSP00000329520:R381P	ENSP00000279263:R408P	R	+	2	0	TM7SF2	64640067	1.000000	0.71417	0.243000	0.24186	0.946000	0.59487	3.951000	0.56684	0.841000	0.35020	0.655000	0.94253	CGT		0.647	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		7	22	0	0	0	0.008291	0	7	22				
SF3B2	10992	broad.mit.edu	37	11	65823007	65823007	+	Splice_Site	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:65823007A>C	ENST00000322535.6	+	5	549	c.500A>C	c.(499-501)cAg>cCg	p.Q167P	snoU13_ENST00000459530.1_RNA|SF3B2_ENST00000528302.1_Intron	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	167					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.Q167P(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TTTTTTAAGCAGGGAGATCAT	0.502																																							uc001ogy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(499-501)CAG>CCG		splicing factor 3B subunit 2							165.0	154.0	158.0					11																	65823007		2201	4295	6496	SO:0001630	splice_region_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65823007A>C	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.499-1A>C	11.37:g.65823007A>C						SF3B2_uc001ogx.1_Splice_Site_p.G167_splice	p.Q167P	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			5	540	+			167			Potential.		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.500A>C	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.93|15.93	2.978349|2.978349	0.53720|0.53720	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000533595;ENST00000524627;ENST00000355456;ENST00000533421|ENST00000322535;ENST00000530322	.|.	.|.	.|.	4.3|4.3	3.12|3.12	0.35913|0.35913	.|.	.|0.590539	.|0.15470	.|N	.|0.260670	.|T	.|0.28995	.|0.0720	N|N	0.14661|0.14661	0.345|0.345	0.32665|0.32665	N|N	0.517525|0.517525	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.25916	.|-1.0118	.|9	.|0.49607	.|T	.|0.09	.|-10.8508	8.0796|8.0796	0.30737|0.30737	0.794:0.206:0.0:0.0|0.794:0.206:0.0:0.0	.|.	.|167	.|Q13435	.|SF3B2_HUMAN	.|P	-1|167;162	.|.	.|ENSP00000318861:Q167P	.|Q	+|+	.|2	.|0	SF3B2|SF3B2	65579583|65579583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	3.918000|3.918000	0.56432|0.56432	0.724000|0.724000	0.32296|0.32296	0.460000|0.460000	0.39030|0.39030	.|CAG		0.502	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		Missense_Mutation	4	34	0	0	0	0.009096	0	4	34				
RAB1B	81876	broad.mit.edu	37	11	66039310	66039310	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66039310G>T	ENST00000311481.6	+	2	204	c.57G>T	c.(55-57)gtG>gtT	p.V19V	RAB1B_ENST00000527397.1_Silent_p.V19V|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	19					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.V19V(1)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						ACTCAGGCGTGGGCAAGTCAT	0.577																																							uc001ohf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)GTG>GTT		RAB1B, member RAS oncogene family							132.0	107.0	115.0					11																	66039310		2200	4295	6495	SO:0001819	synonymous_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66039310G>T	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.57G>T	11.37:g.66039310G>T						uc001ohg.1_RNA	p.V19V	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN			2	152	+			19			GTP (By similarity).		A8K7S1	Silent	SNP	ENST00000311481.6	37	c.57G>T	CCDS31613.1																																																																																				0.577	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		8	37	1	0	0.000274275	0.004482	0.000319476	8	37				
B3GNT1	11041	broad.mit.edu	37	11	66114503	66114503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66114503C>A	ENST00000311181.4	-	1	660	c.514G>T	c.(514-516)Gag>Tag	p.E172*	BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000425825.2_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	172					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.E172*(1)|p.E172K(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TCCCCCGGCTCCCGGGGGTCG	0.682																																							uc001ohr.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(514-516)GAG>TAG		UDP-GlcNAc:betaGal							13.0	15.0	14.0					11																	66114503		2196	4282	6478	SO:0001587	stop_gained	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114503C>A	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.514G>T	11.37:g.66114503C>A	ENSP00000309096:p.Glu172*					BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	p.E172*	NM_006876	NP_006867	O43505	B3GN1_HUMAN			1	659	-			172			Lumenal (Potential).		Q4TTN0	Nonsense_Mutation	SNP	ENST00000311181.4	37	c.514G>T	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	37	6.199478	0.97371	.	.	ENSG00000174684	ENST00000311181	.	.	.	5.63	5.63	0.86233	.	0.304112	0.34386	N	0.004019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-30.9911	17.1609	0.86803	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000309096:E172X	E	-	1	0	B3GNT1	65871079	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.243000	0.58721	2.657000	0.90304	0.462000	0.41574	GAG		0.682	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		4	15	1	0	0.00024832	0.009096	0.000292993	4	15				
CTSF	8722	broad.mit.edu	37	11	66328121	66328121	+	IGR	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66328121C>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCATGGGCATCCAGGGTGAGA	0.607																																							uc001oio.1		NA																	0					0						c.(1753-1755)ATC>ATT		actinin, alpha 3							101.0	109.0	106.0					11																	66328121		2176	4275	6451	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66328121C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66328121C>T						ACTN3_uc010rpi.1_RNA	p.I585I	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			16	1773	+			585			Spectrin 3.		B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	c.1755C>T	CCDS8144.1																																																																																				0.607	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		11	52	0	0	0	0.008291	0	11	52				
SPTBN2	6712	broad.mit.edu	37	11	66483327	66483327	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66483327G>A	ENST00000533211.1	-	4	614	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F	SPTBN2_ENST00000309996.2_Missense_Mutation_p.L95F|RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000529997.1_Missense_Mutation_p.L95F			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	95	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.L95F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCACCTCGAGGAGCCTCAGC	0.622																																							uc001ojd.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(283-285)CTC>TTC		spectrin, beta, non-erythrocytic 2							60.0	54.0	56.0					11																	66483327		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66483327G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.283C>T	11.37:g.66483327G>A	ENSP00000432568:p.Leu95Phe						p.L95F	NM_006946	NP_008877	O15020	SPTN2_HUMAN			3	355	-			95			CH 1.|Actin-binding.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.283C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652507	0.88056	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262;ENST00000527010	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.04	4.13	0.48395	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	T	0.77025	0.4070	M	0.81497	2.545	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.78745	-0.2084	10	0.87932	D	0	.	8.732	0.34505	0.1736:0.0:0.8264:0.0	.	95	O15020	SPTN2_HUMAN	F	95	ENSP00000432568:L95F;ENSP00000311489:L95F;ENSP00000433593:L95F;ENSP00000433631:L95F	ENSP00000311489:L95F	L	-	1	0	SPTBN2	66239903	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.544000	0.67231	1.349000	0.45751	0.561000	0.74099	CTC		0.622	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		10	15	0	0	0	0.006214	0	10	15				
C11orf80	79703	broad.mit.edu	37	11	66605891	66605891	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66605891T>A	ENST00000360962.4	+	15	1729	c.1722T>A	c.(1720-1722)gaT>gaA	p.D574E	C11orf80_ENST00000532565.2_Missense_Mutation_p.D356E|C11orf80_ENST00000525449.2_Missense_Mutation_p.D382E|C11orf80_ENST00000527634.1_Missense_Mutation_p.D357E|C11orf80_ENST00000540737.1_Missense_Mutation_p.D408E|C11orf80_ENST00000346672.4_Missense_Mutation_p.D383E	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	574								p.D574E(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						ACGCACCTGATAACAGCAGCC	0.443																																							uc001ojf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1720-1722)GAT>GAA		hypothetical protein LOC79703							77.0	78.0	78.0					11																	66605891		1879	4110	5989	SO:0001583	missense	79703							g.chr11:66605891T>A			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1722T>A	11.37:g.66605891T>A	ENSP00000354227:p.Asp574Glu					C11orf80_uc001ojg.2_Missense_Mutation_p.D341E|C11orf80_uc001ojh.2_Missense_Mutation_p.D342E|C11orf80_uc001oji.2_Missense_Mutation_p.D342E|C11orf80_uc010rpl.1_Missense_Mutation_p.D208E|C11orf80_uc001ojj.2_Missense_Mutation_p.D172E	p.D574E	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN			15	1729	+			419					Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	c.1722T>A	CCDS53664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.044|8.044	0.764583|0.764583	0.15914|0.15914	.|.	.|.	ENSG00000173715|ENSG00000173715	ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449|ENST00000531415	T|.	0.27104|.	1.69|.	3.84|3.84	-2.67|-2.67	0.06059|0.06059	.|.	1.528260|.	0.04292|.	N|.	0.345737|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.0;0.001|.	T|T	0.24154|0.24154	-1.0168|-1.0168	10|5	0.02654|.	T|.	1|.	-0.0703|-0.0703	3.2275|3.2275	0.06737|0.06737	0.394:0.0:0.2935:0.3124|0.394:0.0:0.2935:0.3124	.|.	408;383;357;419;409|.	B4DXL1;C9JZP8;E9PKM2;Q8N6T0;E9PKZ8|.	.;.;.;CK080_HUMAN;.|.	E|K	574;383;357;409;408;383|128	ENSP00000354227:D574E|.	ENSP00000317408:D383E|.	D|I	+|+	3|2	2|0	C11orf80|C11orf80	66362467|66362467	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.336000|-0.336000	0.07863|0.07863	-0.582000|-0.582000	0.05929|0.05929	-1.508000|-1.508000	0.00951|0.00951	GAT|ATA		0.443	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		7	21	0	0	0	0.001984	0	7	21				
LRP5	4041	broad.mit.edu	37	11	68157355	68157355	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:68157355G>T	ENST00000294304.7	+	7	1525	c.1419G>T	c.(1417-1419)atG>atT	p.M473I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	473	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.M473I(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAGCCTCATGTACTGGACAG	0.607																																							uc001ont.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(1417-1419)ATG>ATT		low density lipoprotein receptor-related protein							107.0	100.0	102.0					11																	68157355		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68157355G>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1419G>T	11.37:g.68157355G>T	ENSP00000294304:p.Met473Ile					LRP5_uc009ysg.2_Intron	p.M473I	NM_002335	NP_002326	O75197	LRP5_HUMAN			7	1494	+			473			LDL-receptor class B 8.|Beta-propeller 2.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1419G>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110911	0.77210	.	.	ENSG00000162337	ENST00000294304	D	0.95137	-3.62	3.3	3.3	0.37823	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	U	0.000026	D	0.96207	0.8763	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.96398	0.9294	10	0.59425	D	0.04	.	15.8761	0.79162	0.0:0.0:1.0:0.0	.	473	O75197	LRP5_HUMAN	I	473	ENSP00000294304:M473I	ENSP00000294304:M473I	M	+	3	0	LRP5	67913931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.575000	0.82447	2.165000	0.68154	0.555000	0.69702	ATG		0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		10	41	1	0	2.68362e-12	0.001368	4.45536e-12	10	41				
ANKRD42	338699	broad.mit.edu	37	11	82938914	82938914	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:82938914G>T	ENST00000393392.2	+	7	991	c.829G>T	c.(829-831)Gct>Tct	p.A277S	ANKRD42_ENST00000260047.6_Splice_Site_p.A304S|ANKRD42_ENST00000533342.1_Splice_Site_p.A305S|ANKRD42_ENST00000531895.1_Splice_Site_p.A305S	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	277					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.A277S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TATGCATAAAGGTGAGTTATG	0.353																																							uc001ozz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(829-831)GCT>TCT		ankyrin repeat domain 42							128.0	116.0	120.0					11																	82938914		2203	4300	6503	SO:0001630	splice_region_variant	338699							g.chr11:82938914G>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.829+1G>T	11.37:g.82938914G>T						ANKRD42_uc010rsv.1_Missense_Mutation_p.A305S|ANKRD42_uc001paa.2_Missense_Mutation_p.A305S|ANKRD42_uc001pab.1_Missense_Mutation_p.A304S	p.A277S	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN			7	1251	+			277			ANK 8.		Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.829G>T	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523943	0.85600	.	.	ENSG00000137494	ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342;ENST00000342658;ENST00000531815	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.38	5.2	5.2	0.72013	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	D	0.90017	0.6883	M	0.81497	2.545	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90454	0.4441	9	.	.	.	-6.0932	17.5056	0.87745	0.0:0.0:1.0:0.0	.	305;569;396;277	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	S	304;305;277;305;45;30	ENSP00000260047:A304S;ENSP00000434666:A305S;ENSP00000377051:A277S;ENSP00000435790:A305S;ENSP00000435197:A30S	.	A	+	1	0	ANKRD42	82616562	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.760000	0.74939	2.421000	0.82119	0.561000	0.74099	GCT		0.353	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603	Missense_Mutation	12	54	1	0	6.31663e-08	0.003163	9.21544e-08	12	54				
GRM5	2915	broad.mit.edu	37	11	88583117	88583117	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:88583117T>C	ENST00000305447.4	-	2	1017	c.868A>G	c.(868-870)Atg>Gtg	p.M290V	GRM5_ENST00000393297.1_Missense_Mutation_p.M290V|GRM5_ENST00000455756.2_Missense_Mutation_p.M290V|GRM5_ENST00000305432.5_Missense_Mutation_p.M290V|GRM5_ENST00000418177.2_Missense_Mutation_p.M290V	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	290					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.M290V(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGGCGCCTCATGGCCATCAGC	0.517																																							uc001pcq.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(868-870)ATG>GTG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						60.0	65.0	63.0					11																	88583117		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88583117T>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.868A>G	11.37:g.88583117T>C	ENSP00000306138:p.Met290Val					GRM5_uc009yvm.2_Missense_Mutation_p.M290V	p.M290V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			2	1068	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	290			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.868A>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602365	0.46423	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82692	0.5092	N	0.13003	0.285	0.51767	D	0.999936	D;P	0.53619	0.961;0.942	P;D	0.67103	0.638;0.949	T	0.82200	-0.0575	9	.	.	.	.	15.4226	0.75025	0.0:0.0:0.0:1.0	.	290;290	P41594-2;P41594	.;GRM5_HUMAN	V	290	ENSP00000402912:M290V;ENSP00000405690:M290V;ENSP00000305905:M290V;ENSP00000306138:M290V;ENSP00000376975:M290V	.	M	-	1	0	GRM5	88222765	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.346000	0.79347	2.046000	0.60703	0.460000	0.39030	ATG		0.517	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		9	47	0	0	0	0.004482	0	9	47				
FOLH1B	219595	broad.mit.edu	37	11	89420534	89420534	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:89420534G>T	ENST00000532352.1	+	0	1349							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.G179V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCTGATGAAGGCTTTGAAGGC	0.343																																							uc001pda.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(535-537)GGC>GTC		folate hydrolase 1B							40.0	42.0	41.0					11																	89420534		2199	4278	6477			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89420534G>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89420534G>T							p.G179V	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			9	1062	+			179						Missense_Mutation	SNP	ENST00000532352.1	37	c.536G>T																																																																																					0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		5	35	1	0	0.000602214	0.000602	0.000682885	5	35				
NAALAD2	10003	broad.mit.edu	37	11	89916115	89916115	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:89916115C>T	ENST00000534061.1	+	18	2202	c.1972C>T	c.(1972-1974)Ctg>Ttg	p.L658L	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.L625L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	658					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.L658L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAATGACCAACTGATGCTCCT	0.388																																							uc001pdf.3		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1972-1974)CTG>TTG		N-acetylated alpha-linked acidic dipeptidase 2							150.0	144.0	146.0					11																	89916115		2201	4298	6499	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89916115C>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1972C>T	11.37:g.89916115C>T						NAALAD2_uc009yvx.2_Silent_p.L625L|NAALAD2_uc009yvy.2_Intron	p.L658L	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			18	2081	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	658			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.1972C>T	CCDS8288.1																																																																																				0.388	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		7	67	0	0	0	0.004482	0	7	67				
FAT3	120114	broad.mit.edu	37	11	92526085	92526085	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:92526085G>T	ENST00000298047.6	+	8	4781	c.4764G>T	c.(4762-4764)gtG>gtT	p.V1588V	FAT3_ENST00000525166.1_Silent_p.V1438V|FAT3_ENST00000409404.2_Silent_p.V1588V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1588	Cadherin 15. {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)	p.V1588V(2)		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)				TTCTGCAAGTGACGGCTCTGG	0.448										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(4762-4764)GTG>GTT		FAT tumor suppressor homolog 3							116.0	118.0	117.0					11																	92526085		2016	4200	6216	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92526085G>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.4764G>T	11.37:g.92526085G>T		TCGA Ovarian(4;0.039)					p.V1588V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	4781	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1588			Cadherin 15.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.4764G>T																																																																																					0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	38	1	0	5.4927e-09	0.004482	8.34799e-09	9	38				
MTNR1B	4544	broad.mit.edu	37	11	92715442	92715442	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:92715442C>A	ENST00000257068.2	+	2	1059	c.1053C>A	c.(1051-1053)ccC>ccA	p.P351P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	351					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.P351P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CAGCTCCACCCATCATTGGTG	0.567																																							uc001pdk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1051-1053)CCC>CCA		melatonin receptor 1B	Ramelteon(DB00980)						46.0	50.0	49.0					11																	92715442		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715442C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1053C>A	11.37:g.92715442C>A							p.P351P	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	1156	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	351			Cytoplasmic (Potential).			Silent	SNP	ENST00000257068.2	37	c.1053C>A	CCDS8290.1																																																																																				0.567	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			11	70	1	0	3.86212e-05	0.008291	4.78167e-05	11	70				
KDM4D	55693	broad.mit.edu	37	11	94731714	94731714	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:94731714G>T	ENST00000335080.5	+	3	2010	c.1178G>T	c.(1177-1179)aGt>aTt	p.S393I	KDM4D_ENST00000536741.1_Missense_Mutation_p.S393I	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	393					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.S393I(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCTGCCCGCAGTGGGACACGG	0.637																																							uc001pfe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)AGT>ATT		jumonji domain containing 2D							56.0	48.0	51.0					11																	94731714		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731714G>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1178G>T	11.37:g.94731714G>T	ENSP00000334181:p.Ser393Ile						p.S393I	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	2010	+			393					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.1178G>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	G	7.462	0.644796	0.14451	.	.	ENSG00000186280	ENST00000335080	T	0.29142	1.58	3.51	-4.86	0.03132	.	8.894380	0.01177	U	0.007010	T	0.15089	0.0364	N	0.14661	0.345	0.09310	N	1	B	0.27971	0.196	B	0.21708	0.036	T	0.06826	-1.0805	10	0.29301	T	0.29	3.3796	3.8984	0.09149	0.4598:0.0:0.2648:0.2754	.	393	Q6B0I6	KDM4D_HUMAN	I	393	ENSP00000334181:S393I	ENSP00000334181:S393I	S	+	2	0	KDM4D	94371362	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.022000	0.03611	-1.207000	0.02637	-0.521000	0.04368	AGT		0.637	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		6	23	1	0	0.00116845	0.001168	0.00130265	6	23				
PGR	5241	broad.mit.edu	37	11	100912825	100912825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:100912825C>A	ENST00000325455.5	-	7	3950	c.2497G>T	c.(2497-2499)Gaa>Taa	p.E833*	PGR_ENST00000534013.1_Nonsense_Mutation_p.E239*|PGR_ENST00000263463.5_Nonsense_Mutation_p.E731*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	833	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E833*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CGTAGCCCTTCCAAAGGAACT	0.363																																					Pancreas(124;2271 2354 21954 22882)	Pancreas(124;2271 2354 21954 22882)	uc001pgh.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(2497-2499)GAA>TAA		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						74.0	73.0	73.0					11																	100912825		2203	4300	6503	SO:0001587	stop_gained	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100912825C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2497G>T	11.37:g.100912825C>A	ENSP00000325120:p.Glu833*					PGR_uc001pgg.2_Nonsense_Mutation_p.E214*|PGR_uc001pgi.2_Nonsense_Mutation_p.E731*|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.E833*	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	7	3240	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	833			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	ENST00000325455.5	37	c.2497G>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	39	7.349291	0.98228	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.3638	0.94453	0.0:1.0:0.0:0.0	.	.	.	.	X	833;239;731	.	ENSP00000263463:E731X	E	-	1	0	PGR	100418035	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.400000	0.79949	2.589000	0.87451	0.585000	0.79938	GAA		0.363	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			15	33	1	0	1.49906e-05	0.00245	1.90125e-05	15	33				
ANGPTL5	253935	broad.mit.edu	37	11	101762183	101762183	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:101762183C>G	ENST00000334289.3	-	9	1589	c.994G>C	c.(994-996)Ggc>Cgc	p.G332R		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	332	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.G332R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCACCAGCCGGTCTTGTTA	0.478																																							uc001pgl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(994-996)GGC>CGC		angiopoietin-like 5 precursor							185.0	176.0	179.0					11																	101762183		2203	4299	6502	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101762183C>G	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.994G>C	11.37:g.101762183C>G	ENSP00000335255:p.Gly332Arg						p.G332R	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	9	1590	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	332			Fibrinogen C-terminal.		A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.994G>C	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863725	0.91511	.	.	ENSG00000187151	ENST00000334289	D	0.89270	-2.49	5.26	5.26	0.73747	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96926	0.8996	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98483	1.0606	10	0.87932	D	0	.	18.8923	0.92410	0.0:1.0:0.0:0.0	.	332	Q86XS5	ANGL5_HUMAN	R	332	ENSP00000335255:G332R	ENSP00000335255:G332R	G	-	1	0	ANGPTL5	101267393	1.000000	0.71417	0.955000	0.39395	0.899000	0.52679	7.203000	0.77864	2.459000	0.83118	0.655000	0.94253	GGC		0.478	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		20	71	0	0	0	0.001882	0	20	71				
BIRC3	330	broad.mit.edu	37	11	102201846	102201846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:102201846C>T	ENST00000263464.3	+	6	3948	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	BIRC3_ENST00000532808.1_Nonsense_Mutation_p.Q400*	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	400					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q400*(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		ACAGACAGTTCAGAGAAAAAT	0.398			T	MALT1	MALT																																		uc001pgx.2		NA		Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1198-1200)CAG>TAG		baculoviral IAP repeat-containing protein 3							107.0	109.0	108.0					11																	102201846		2203	4299	6502	SO:0001587	stop_gained	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102201846C>T	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1198C>T	11.37:g.102201846C>T	ENSP00000263464:p.Gln400*						p.Q400*	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	7	1420	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	400					Q16628|Q9HC27|Q9UP46	Nonsense_Mutation	SNP	ENST00000263464.3	37	c.1198C>T	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117069	0.94385	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	.	.	.	5.19	5.19	0.71726	.	0.114910	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	.	.	.	X	400	.	ENSP00000263464:Q400X	Q	+	1	0	BIRC3	101707056	1.000000	0.71417	0.999000	0.59377	0.525000	0.34531	5.802000	0.69122	2.694000	0.91930	0.491000	0.48974	CAG		0.398	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		10	47	0	0	0	0.006214	0	10	47				
MMP27	64066	broad.mit.edu	37	11	102573517	102573517	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:102573517C>G	ENST00000260229.4	-	4	677	c.586G>C	c.(586-588)Gat>Cat	p.D196H		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	196					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D196H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCATCCTCATCAAAATGAGTG	0.453																																							uc001phd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(586-588)GAT>CAT		matrix metalloproteinase 27 precursor							93.0	98.0	96.0					11																	102573517		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102573517C>G	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.586G>C	11.37:g.102573517C>G	ENSP00000260229:p.Asp196His						p.D196H	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	4	609	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	196				Calcium 3 (By similarity).	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.586G>C	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682836	0.88542	.	.	ENSG00000137675	ENST00000260229	T	0.39406	1.08	5.79	5.79	0.91817	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.79610	0.4475	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86746	0.1957	10	0.87932	D	0	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	196	Q9H306	MMP27_HUMAN	H	196	ENSP00000260229:D196H	ENSP00000260229:D196H	D	-	1	0	MMP27	102078727	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	5.763000	0.68818	2.740000	0.93945	0.563000	0.77884	GAT		0.453	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		20	75	0	0	0	0.001882	0	20	75				
DDI1	414301	broad.mit.edu	37	11	103908012	103908012	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:103908012C>A	ENST00000302259.3	+	1	705	c.462C>A	c.(460-462)ccC>ccA	p.P154P	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	154							aspartic-type endopeptidase activity (GO:0004190)	p.P154P(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCTCCAACCCCCACGATCTGT	0.637																																							uc001phr.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(460-462)CCC>CCA		DDI1, DNA-damage inducible 1, homolog 1							57.0	55.0	55.0					11																	103908012		2202	4299	6501	SO:0001819	synonymous_variant	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908012C>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.462C>A	11.37:g.103908012C>A						PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.P154P	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	705	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	154					Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	37	c.462C>A	CCDS31660.1																																																																																				0.637	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		8	34	1	0	5.18039e-06	0.00308	6.82593e-06	8	34				
AASDHPPT	60496	broad.mit.edu	37	11	105967474	105967474	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:105967474C>T	ENST00000278618.4	+	6	992	c.770C>T	c.(769-771)cCa>cTa	p.P257L	RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	257					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.P257L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TTTTAGGTTCCATCTCAGGAT	0.333																																							uc001pjc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(769-771)CCA>CTA		aminoadipate-semialdehyde							115.0	112.0	113.0					11																	105967474		2201	4299	6500	SO:0001583	missense	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105967474C>T	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.770C>T	11.37:g.105967474C>T	ENSP00000278618:p.Pro257Leu					AASDHPPT_uc010rvn.1_RNA|AASDHPPT_uc001pjd.1_Missense_Mutation_p.P110L	p.P257L	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	6	916	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	257					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	c.770C>T	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	C	0.683	-0.797411	0.02862	.	.	ENSG00000149313	ENST00000278618	.	.	.	5.57	4.56	0.56223	4&apos (1);-phosphopantetheinyl transferase (1);	1.039940	0.07503	N	0.907552	T	0.24431	0.0592	N	0.14661	0.345	0.30769	N	0.743287	B	0.02656	0.0	B	0.01281	0.0	T	0.23404	-1.0189	9	0.26408	T	0.33	.	3.7854	0.08698	0.0:0.5746:0.2492:0.1762	.	257	Q9NRN7	ADPPT_HUMAN	L	257	.	ENSP00000278618:P257L	P	+	2	0	AASDHPPT	105472684	0.913000	0.31002	0.794000	0.32065	0.255000	0.26057	2.367000	0.44213	2.626000	0.88956	0.557000	0.71058	CCA		0.333	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		9	53	0	0	0	0.004482	0	9	53				
GUCY1A2	2977	broad.mit.edu	37	11	106558347	106558347	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:106558347A>G	ENST00000526355.2	-	8	2595	c.2127T>C	c.(2125-2127)tcT>tcC	p.S709S	GUCY1A2_ENST00000282249.2_Silent_p.S740S|GUCY1A2_ENST00000347596.2_Silent_p.S730S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	709					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.S709S(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	ACGAAGAAAGAGAAGGCTTTG	0.493																																							uc001pjg.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(2125-2127)TCT>TCC		guanylate cyclase 1, soluble, alpha 2							160.0	158.0	159.0					11																	106558347		2201	4298	6499	SO:0001819	synonymous_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558347A>G	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2127T>C	11.37:g.106558347A>G						GUCY1A2_uc010rvo.1_Silent_p.S730S|GUCY1A2_uc009yxn.1_Silent_p.S740S	p.S709S	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2517	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	709					A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	c.2127T>C	CCDS8335.1																																																																																				0.493	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			16	88	0	0	0	0.007413	0	16	88				
GUCY1A2	2977	broad.mit.edu	37	11	106579268	106579268	+	Missense_Mutation	SNP	C	C	T	rs201162728		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:106579268C>T	ENST00000526355.2	-	7	2429	c.1961G>A	c.(1960-1962)cGg>cAg	p.R654Q	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R685Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R675Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	654					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.R654Q(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	ATTGATGCGCCGAGGGTGACT	0.522																																							uc001pjg.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1960-1962)CGG>CAG		guanylate cyclase 1, soluble, alpha 2							157.0	150.0	152.0					11																	106579268		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106579268C>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1961G>A	11.37:g.106579268C>T	ENSP00000431245:p.Arg654Gln					GUCY1A2_uc010rvo.1_Missense_Mutation_p.R675Q|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R685Q	p.R654Q	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	7	2351	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	654					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1961G>A	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426755	0.83667	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;T;D	0.84516	-1.86;-1.44;-1.86	6.02	5.11	0.69529	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.167404	0.28057	N	0.016761	D	0.85788	0.5778	N	0.25060	0.705	0.58432	D	0.999997	D;D;B	0.89917	1.0;0.999;0.16	D;D;B	0.67548	0.952;0.926;0.011	D	0.84476	0.0602	10	0.29301	T	0.29	.	14.5493	0.68054	0.0:0.9302:0.0:0.0698	.	675;685;654	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	Q	654;685;675	ENSP00000431245:R654Q;ENSP00000282249:R685Q;ENSP00000344874:R675Q	ENSP00000282249:R685Q	R	-	2	0	GUCY1A2	106084478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	1.561000	0.49584	0.655000	0.94253	CGG		0.522	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			4	26	0	0	0	0.000602	0	4	26				
ELMOD1	55531	broad.mit.edu	37	11	107535886	107535886	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:107535886C>A	ENST00000265840.7	+	12	1233	c.968C>A	c.(967-969)cCa>cAa	p.P323Q	ELMOD1_ENST00000443271.2_Missense_Mutation_p.P315Q|ELMOD1_ENST00000531234.1_Missense_Mutation_p.P317Q	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	323					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)	p.P323Q(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GCGCTGTGCCCACATTTTGCT	0.483																																							uc010rvs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(967-969)CCA>CAA		ELMO/CED-12 domain containing 1 isoform 1							135.0	142.0	140.0					11																	107535886		2068	4208	6276	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107535886C>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.968C>A	11.37:g.107535886C>A	ENSP00000265840:p.Pro323Gln					ELMOD1_uc001pjm.2_Missense_Mutation_p.P315Q|ELMOD1_uc010rvt.1_Missense_Mutation_p.P317Q	p.P323Q	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	12	1372	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	323					B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.968C>A	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077082	0.94000	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.59703	0.731;0.862	T	0.45264	-0.9273	9	0.13853	T	0.58	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	323;315	Q8N336;G5E9S5	ELMD1_HUMAN;.	Q	317;323;315	.	ENSP00000265840:P323Q	P	+	2	0	ELMOD1	107041096	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.139000	0.77314	2.873000	0.98535	0.563000	0.77884	CCA		0.483	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		11	80	1	0	1.58986e-06	0.008291	2.14735e-06	11	80				
BCO2	83875	broad.mit.edu	37	11	112065384	112065384	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:112065384G>T	ENST00000357685.5	+	5	777	c.642G>T	c.(640-642)tgG>tgT	p.W214C	BCO2_ENST00000361053.4_Intron|BCO2_ENST00000526088.1_Missense_Mutation_p.W180C|AP002884.3_ENST00000532612.1_Intron|BCO2_ENST00000393032.2_Missense_Mutation_p.W180C|BCO2_ENST00000532593.1_Missense_Mutation_p.W109C|BCO2_ENST00000531169.1_Missense_Mutation_p.W180C|BCO2_ENST00000438022.1_Missense_Mutation_p.W180C			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	214					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.W214C(1)		NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AGGTAGATTGGAGCAAATTTA	0.368																																					GBM(177;1916 2099 21049 29541 39946)	GBM(177;1916 2099 21049 29541 39946)	uc001pnf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(640-642)TGG>TGT		beta-carotene dioxygenase 2 isoform a							140.0	134.0	136.0					11																	112065384		2201	4297	6498	SO:0001583	missense	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112065384G>T	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.642G>T	11.37:g.112065384G>T	ENSP00000350314:p.Trp214Cys					BCO2_uc001pne.1_Missense_Mutation_p.W41C|BCO2_uc001png.2_Intron|BCO2_uc001pnh.2_Missense_Mutation_p.W180C|BCO2_uc010rwt.1_Missense_Mutation_p.W109C|BCO2_uc009yyn.2_Missense_Mutation_p.W180C|BCO2_uc001pni.2_Missense_Mutation_p.W180C	p.W214C	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN			5	759	+			214					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	c.642G>T	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050011	0.75846	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.99;0.976	D	0.97484	1.0049	10	0.62326	D	0.03	-11.1098	18.743	0.91780	0.0:0.0:1.0:0.0	.	191;214;41	C9JEZ9;Q9BYV7;Q8NAZ7	.;BCDO2_HUMAN;.	C	214;180;180;180;109;180	ENSP00000350314:W214C;ENSP00000376752:W180C;ENSP00000414843:W180C;ENSP00000436615:W180C;ENSP00000431802:W109C;ENSP00000437053:W180C	ENSP00000350314:W214C	W	+	3	0	BCO2	111570594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.748000	0.91615	2.676000	0.91093	0.557000	0.71058	TGG		0.368	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		12	54	1	0	0.00010058	0.001368	0.000121128	12	54				
DRD2	1813	broad.mit.edu	37	11	113283382	113283382	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:113283382G>T	ENST00000362072.3	-	7	1378	c.1034C>A	c.(1033-1035)aCc>aAc	p.T345N	DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000544518.1_Missense_Mutation_p.T344N|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.T316N|DRD2_ENST00000542968.1_Missense_Mutation_p.T345N|DRD2_ENST00000538967.1_Missense_Mutation_p.T347N|DRD2_ENST00000355319.2_Missense_Mutation_p.T347N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	345	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.T345N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATTGGGCATGGTCTGGATCTC	0.552																																							uc001pnz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1033-1035)ACC>AAC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						169.0	142.0	151.0					11																	113283382		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113283382G>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1034C>A	11.37:g.113283382G>T	ENSP00000354859:p.Thr345Asn					DRD2_uc010rwv.1_Missense_Mutation_p.T344N|DRD2_uc001poa.3_Missense_Mutation_p.T345N|DRD2_uc001pob.3_Missense_Mutation_p.T316N	p.T345N	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	6	1355	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	345			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.1034C>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435876	0.43224	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.72725	-0.66;-0.66;-0.64;-0.68;-0.64;-0.66	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.429601	0.29396	N	0.012263	T	0.61009	0.2313	N	0.21324	0.655	0.32826	D	0.503404	B;B;B	0.14012	0.0;0.009;0.001	B;B;B	0.17979	0.002;0.02;0.008	T	0.58607	-0.7607	10	0.22706	T	0.39	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	344;316;345	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	N	347;316;345;344;345;347	ENSP00000347474:T347N;ENSP00000278597:T316N;ENSP00000354859:T345N;ENSP00000441068:T344N;ENSP00000442172:T345N;ENSP00000438215:T347N	ENSP00000278597:T316N	T	-	2	0	DRD2	112788592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.606000	0.74159	2.837000	0.97791	0.655000	0.94253	ACC		0.552	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		9	49	1	0	3.09899e-07	0.004482	4.35533e-07	9	49				
CEP164	22897	broad.mit.edu	37	11	117257992	117257992	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:117257992G>T	ENST00000278935.3	+	15	1945	c.1798G>T	c.(1798-1800)Gcc>Tcc	p.A600S	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	600	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A600S(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGAGGCAGTGGCCCAAGTACT	0.572																																							uc001prc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1798-1800)GCC>TCC		centrosomal protein 164kDa							93.0	91.0	92.0					11																	117257992		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117257992G>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1798G>T	11.37:g.117257992G>T	ENSP00000278935:p.Ala600Ser					CEP164_uc001prb.2_Missense_Mutation_p.A603S|CEP164_uc010rxk.1_Missense_Mutation_p.A574S|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.A33S	p.A600S	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	15	1945	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	600			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.1798G>T	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489699	0.44249	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.42131	0.98	5.47	3.61	0.41365	.	0.462003	0.18293	N	0.145648	T	0.32102	0.0818	L	0.48362	1.52	0.09310	N	1	P;P;P;P	0.45957	0.793;0.869;0.869;0.869	B;B;B;B	0.41510	0.196;0.359;0.359;0.359	T	0.11494	-1.0585	10	0.09338	T	0.73	-4.062	9.3909	0.38372	0.164:0.0:0.836:0.0	.	574;374;600;603	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	S	600;574;481	ENSP00000278935:A600S	ENSP00000278935:A600S	A	+	1	0	CEP164	116763202	0.035000	0.19736	0.199000	0.23439	0.845000	0.48019	1.339000	0.33885	0.675000	0.31264	0.655000	0.94253	GCC		0.572	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		8	63	1	0	0.00307968	0.00308	0.0033563	8	63				
CD3D	915	broad.mit.edu	37	11	118210166	118210166	+	Splice_Site	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:118210166C>G	ENST00000300692.4	-	4	586	c.450G>C	c.(448-450)caG>caC	p.Q150H	CD3D_ENST00000529594.1_Splice_Site_p.Q77H|CD3D_ENST00000392884.2_Splice_Site_p.Q106H	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	150	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.Q150H(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	CAACGCTCACCTGATAGACCT	0.542																																							uc001pss.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)CAG>CAC		CD3 antigen, delta subunit isoform A precursor							168.0	159.0	162.0					11																	118210166		2200	4296	6496	SO:0001630	splice_region_variant	915				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	g.chr11:118210166C>G	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.450+1G>C	11.37:g.118210166C>G						CD3D_uc001pst.1_Missense_Mutation_p.Q106H	p.Q150H	NM_000732	NP_000723	P04234	CD3D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	587	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	150			ITAM.|Cytoplasmic (Potential).		A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	c.450G>C	CCDS8394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.575604|4.575604	0.86645|0.86645	.|.	.|.	ENSG00000167286|ENSG00000167286	ENST00000534687|ENST00000300692;ENST00000529594;ENST00000392884	.|T;T;T	.|0.55930	.|0.49;0.49;0.49	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73860|0.73860	0.3641|0.3641	M|M	0.83953|0.83953	2.67|2.67	0.53688|0.53688	D|D	0.999979|0.999979	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.70016	.|0.967;0.946	T|T	0.75712|0.75712	-0.3222|-0.3222	5|9	.|.	.|.	.|.	-0.9008|-0.9008	15.5119|15.5119	0.75789|0.75789	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106;150	.|A8MVP6;P04234	.|.;CD3D_HUMAN	P|H	111|150;77;106	.|ENSP00000300692:Q150H;ENSP00000437335:Q77H;ENSP00000376622:Q106H	.|.	A|Q	-|-	1|3	0|2	CD3D|CD3D	117715376|117715376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.453000|2.453000	0.44970|0.44970	2.742000|2.742000	0.94016|0.94016	0.650000|0.650000	0.86243|0.86243	GCC|CAG		0.542	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732	Missense_Mutation	8	46	0	0	0	0.001368	0	8	46				
KMT2A	4297	broad.mit.edu	37	11	118363824	118363824	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:118363824G>C	ENST00000389506.5	+	16	5048	c.5048G>C	c.(5047-5049)cGc>cCc	p.R1683P	KMT2A_ENST00000354520.4_Missense_Mutation_p.R1645P|KMT2A_ENST00000534358.1_Missense_Mutation_p.R1686P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1683					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R1686P(1)|p.R1683P(1)									ATACCTTCCCGCAGCTCCCCC	0.483																																							uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(5047-5049)CGC>CCC		myeloid/lymphoid or mixed-lineage leukemia							99.0	98.0	98.0					11																	118363824		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118363824G>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5048G>C	11.37:g.118363824G>C	ENSP00000374157:p.Arg1683Pro					MLL_uc001ptb.2_Missense_Mutation_p.R1686P	p.R1683P	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	16	5071	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1683					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.5048G>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825274	0.71143	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82984	-1.67;-1.67;-1.61	5.28	5.28	0.74379	Bromodomain (1);	0.059072	0.64402	D	0.000004	D	0.87577	0.6212	L	0.40543	1.245	0.80722	D	1	B;D	0.89917	0.166;1.0	B;D	0.70227	0.208;0.968	D	0.86678	0.1915	10	0.39692	T	0.17	.	18.9088	0.92474	0.0:0.0:1.0:0.0	.	1686;1683	E9PQG7;Q03164	.;MLL1_HUMAN	P	1686;1683;1645;593	ENSP00000436786:R1686P;ENSP00000374157:R1683P;ENSP00000346516:R1645P	ENSP00000346516:R1645P	R	+	2	0	MLL	117869034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.320000	0.96346	2.449000	0.82847	0.561000	0.74099	CGC		0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		14	45	0	0	0	0.003163	0	14	45				
BCL9L	283149	broad.mit.edu	37	11	118771514	118771514	+	Missense_Mutation	SNP	C	C	A	rs150094487		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:118771514C>A	ENST00000334801.3	-	6	3902	c.2938G>T	c.(2938-2940)Ggc>Tgc	p.G980C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	980	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.G980C(4)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGGAGGAGCCGAGGACCTGG	0.637																																							uc001pug.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(2938-2940)GGC>TGC		B-cell CLL/lymphoma 9-like							90.0	82.0	85.0					11																	118771514		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118771514C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2938G>T	11.37:g.118771514C>A	ENSP00000335320:p.Gly980Cys					BCL9L_uc009zal.2_Missense_Mutation_p.G975C	p.G980C	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3903	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	980			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.2938G>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603268	0.46423	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.56275	0.47	4.86	2.31	0.28768	.	0.325440	0.26275	N	0.025315	T	0.45094	0.1325	L	0.32530	0.975	0.45035	D	0.998051	P;P	0.48694	0.914;0.861	P;B	0.49829	0.623;0.418	T	0.37430	-0.9706	10	0.87932	D	0	-12.6201	5.0386	0.14447	0.0:0.159:0.1552:0.6858	.	975;980	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	C	980;943;273;980;980	ENSP00000335320:G980C	ENSP00000335320:G980C	G	-	1	0	BCL9L	118276724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.948000	0.40303	0.309000	0.22966	-0.290000	0.09829	GGC		0.637	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	37	1	0	0.000673444	0.008291	0.000757755	7	37				
ABCG4	64137	broad.mit.edu	37	11	119024758	119024758	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:119024758C>T	ENST00000449422.2	+	3	449	c.261C>T	c.(259-261)tgC>tgT	p.C87C	ABCG4_ENST00000531739.1_Silent_p.C87C|ABCG4_ENST00000307417.3_Silent_p.C87C	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	87	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.C87C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTCTCAAGTGCCTCTCAGGTA	0.517																																							uc001pvs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(259-261)TGC>TGT		ATP-binding cassette, subfamily G, member 4							104.0	112.0	109.0					11																	119024758		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119024758C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.261C>T	11.37:g.119024758C>T						ABCG4_uc009zar.2_Silent_p.C87C|ABCG4_uc001pvt.1_RNA	p.C87C	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	3	597	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	87			Cytoplasmic (Potential).|ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.261C>T	CCDS8415.1																																																																																				0.517	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		11	68	0	0	0	0.001368	0	11	68				
NLRX1	79671	broad.mit.edu	37	11	119045184	119045184	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:119045184G>T	ENST00000409109.1	+	6	1459	c.872G>T	c.(871-873)cGg>cTg	p.R291L	NLRX1_ENST00000409265.4_Missense_Mutation_p.R291L|NLRX1_ENST00000409991.1_Missense_Mutation_p.R291L|NLRX1_ENST00000525863.1_Missense_Mutation_p.R291L|NLRX1_ENST00000292199.2_Missense_Mutation_p.R291L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	291	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.R291L(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTGACCACTCGGCCCTCTGCC	0.547																																							uc001pvu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(871-873)CGG>CTG		NLR family member X1 isoform 1							137.0	140.0	139.0					11																	119045184		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045184G>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.872G>T	11.37:g.119045184G>T	ENSP00000387334:p.Arg291Leu					NLRX1_uc010rzc.1_Missense_Mutation_p.R113L|NLRX1_uc001pvv.2_Missense_Mutation_p.R291L|NLRX1_uc001pvw.2_Missense_Mutation_p.R291L|NLRX1_uc001pvx.2_Missense_Mutation_p.R291L	p.R291L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1087	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	291			Required for interaction with MAVS.|NACHT.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.872G>T	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944156	0.92593	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	6.07	6.07	0.98685	NACHT nucleoside triphosphatase (1);	0.000000	0.64402	D	0.000001	D	0.93808	0.8020	M	0.92923	3.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94157	0.7411	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	291;291	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	L	291	ENSP00000386851:R291L;ENSP00000292199:R291L;ENSP00000386858:R291L;ENSP00000387334:R291L;ENSP00000433442:R291L	ENSP00000292199:R291L	R	+	2	0	NLRX1	118550394	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.565000	0.82337	2.884000	0.98904	0.655000	0.94253	CGG		0.547	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		30	109	1	0	1.61788e-16	0.002445	2.88327e-16	30	109				
GRIK4	2900	broad.mit.edu	37	11	120732757	120732757	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:120732757C>T	ENST00000527524.2	+	9	1121	c.834C>T	c.(832-834)ttC>ttT	p.F278F	GRIK4_ENST00000438375.2_Silent_p.F278F	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	278					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.F278F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ATGCTTTCTTCCAAGAGTTTG	0.527																																							uc001pxn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(832-834)TTC>TTT		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						244.0	243.0	243.0					11																	120732757		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120732757C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.834C>T	11.37:g.120732757C>T						GRIK4_uc009zav.1_Silent_p.F278F|GRIK4_uc009zaw.1_Silent_p.F278F|GRIK4_uc009zax.1_Silent_p.F278F	p.F278F	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	9	1121	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	278			Extracellular (Potential).		A8K9L1	Silent	SNP	ENST00000527524.2	37	c.834C>T	CCDS8433.1																																																																																				0.527	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		23	182	0	0	0	0.004656	0	23	182				
TMEM225	338661	broad.mit.edu	37	11	123754007	123754007	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:123754007C>T	ENST00000375026.2	-	4	732	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	172					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.L172L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TATGGATGTTCAGGCAGGTAC	0.453																																							uc001pzi.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						c.(514-516)CTG>CTA		transmembrane protein 225							97.0	91.0	93.0					11																	123754007		2202	4299	6501	SO:0001819	synonymous_variant	338661					integral to membrane		g.chr11:123754007C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.516G>A	11.37:g.123754007C>T							p.L172L	NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN			4	724	-			172						Silent	SNP	ENST00000375026.2	37	c.516G>A	CCDS31697.1																																																																																				0.453	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		8	38	0	0	0	0.00308	0	8	38				
OR6T1	219874	broad.mit.edu	37	11	123814154	123814154	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:123814154C>A	ENST00000321252.2	-	1	426	c.392G>T	c.(391-393)cGc>cTc	p.R131L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGTCTCATAGCGGAGTGGTCG	0.547																																							uc010sab.1		NA																	2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(1)	1						c.(391-393)CGC>CTC		olfactory receptor, family 6, subfamily T,							72.0	65.0	67.0					11																	123814154		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814154C>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.392G>T	11.37:g.123814154C>A	ENSP00000325203:p.Arg131Leu						p.R131L	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	392	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	131			Cytoplasmic (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.392G>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.905936	0.33628	.	.	ENSG00000181499	ENST00000321252	T	0.39787	1.06	3.85	-1.29	0.09288	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30885	0.0779	L	0.37630	1.12	0.23421	N	0.997718	B	0.21688	0.059	B	0.22601	0.04	T	0.34403	-0.9830	9	0.87932	D	0	-6.1835	8.2333	0.31612	0.0:0.4045:0.0:0.5955	.	131	Q8NGN1	OR6T1_HUMAN	L	131	ENSP00000325203:R131L	ENSP00000325203:R131L	R	-	2	0	OR6T1	123319364	0.000000	0.05858	0.144000	0.22314	0.845000	0.48019	-0.805000	0.04530	-0.151000	0.11176	-0.404000	0.06349	CGC		0.547	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		5	13	1	0	1.024e-07	0.000602	1.48648e-07	5	13				
ROBO3	64221	broad.mit.edu	37	11	124748584	124748584	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:124748584C>T	ENST00000397801.1	+	23	3617	c.3425C>T	c.(3424-3426)cCc>cTc	p.P1142L	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.P1120L|ROBO3_ENST00000543966.1_5'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1142					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.P1142L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGGGAAACCCCCTCTCCCACA	0.627																																							uc001qbc.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(3424-3426)CCC>CTC		roundabout, axon guidance receptor, homolog 3							64.0	76.0	72.0					11																	124748584		2032	4167	6199	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124748584C>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3425C>T	11.37:g.124748584C>T	ENSP00000380903:p.Pro1142Leu					ROBO3_uc001qbd.2_Missense_Mutation_p.P67L|ROBO3_uc010sar.1_Missense_Mutation_p.P191L|ROBO3_uc001qbe.2_Missense_Mutation_p.P67L|ROBO3_uc001qbf.1_Missense_Mutation_p.P26L	p.P1142L	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	23	3617	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1142			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.3425C>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804549	0.70682	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.64085	-0.08;-0.07	4.62	4.62	0.57501	.	0.226323	0.22456	N	0.059823	T	0.68997	0.3062	L	0.51422	1.61	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.72855	-0.4166	10	0.66056	D	0.02	.	16.4203	0.83755	0.0:1.0:0.0:0.0	.	1142	Q96MS0	ROBO3_HUMAN	L	1142;1120	ENSP00000380903:P1142L;ENSP00000441797:P1120L	ENSP00000380903:P1142L	P	+	2	0	ROBO3	124253794	1.000000	0.71417	0.996000	0.52242	0.591000	0.36615	4.976000	0.63785	2.390000	0.81377	0.561000	0.74099	CCC		0.627	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		7	12	0	0	0	0.00308	0	7	12				
ADAMTS15	170689	broad.mit.edu	37	11	130343102	130343102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:130343102G>T	ENST00000299164.2	+	8	2239	c.2239G>T	c.(2239-2241)Gag>Tag	p.E747*		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	747	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E747*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTCGGCGGTGGAGCGGGACCT	0.642																																							uc010scd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2239-2241)GAG>TAG		a disintegrin-like and metalloprotease							67.0	61.0	63.0					11																	130343102		2201	4297	6498	SO:0001587	stop_gained	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343102G>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2239G>T	11.37:g.130343102G>T	ENSP00000299164:p.Glu747*						p.E747*	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2239	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	747			Spacer.		Q32MI6	Nonsense_Mutation	SNP	ENST00000299164.2	37	c.2239G>T	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	40	7.915507	0.98560	.	.	ENSG00000166106	ENST00000299164	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	.	.	.	X	747	.	ENSP00000299164:E747X	E	+	1	0	ADAMTS15	129848312	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.388000	0.97237	2.744000	0.94065	0.561000	0.74099	GAG		0.642	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		8	44	1	0	0.000274275	0.004482	0.000319476	8	44				
NTM	50863	broad.mit.edu	37	11	132177605	132177605	+	Missense_Mutation	SNP	C	C	A	rs138880898		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:132177605C>A	ENST00000374786.1	+	4	1028	c.549C>A	c.(547-549)gaC>gaA	p.D183E	NTM_ENST00000427481.2_Missense_Mutation_p.D174E|NTM_ENST00000539799.1_Missense_Mutation_p.D183E|NTM_ENST00000374791.3_Missense_Mutation_p.D183E|NTM_ENST00000374784.1_Missense_Mutation_p.D183E|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.D183E	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	183	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D183E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TGAGTGAAGACGAATACTTGG	0.493																																							uc001qgp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(547-549)GAC>GAA		neurotrimin isoform 1							100.0	93.0	95.0					11																	132177605		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177605C>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.549C>A	11.37:g.132177605C>A	ENSP00000363918:p.Asp183Glu					NTM_uc001qgm.2_Missense_Mutation_p.D183E|NTM_uc010sch.1_Missense_Mutation_p.D174E|NTM_uc010sci.1_Missense_Mutation_p.D183E|NTM_uc010scj.1_Missense_Mutation_p.D142E|NTM_uc001qgo.2_Missense_Mutation_p.D183E|NTM_uc001qgq.2_Missense_Mutation_p.D183E|NTM_uc001qgr.2_5'UTR	p.D183E	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			4	1213	+			183			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.549C>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171672	0.38315	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.37752	1.54;1.54;1.18;1.54;1.54;1.54;1.54	5.62	-1.01	0.10169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.043842	0.85682	D	0.000000	T	0.22898	0.0553	N	0.16368	0.405	0.29352	N	0.86527	P;B;B;B;B;B	0.42556	0.783;0.343;0.351;0.103;0.084;0.295	B;B;B;B;B;B	0.41946	0.371;0.371;0.184;0.24;0.062;0.255	T	0.19712	-1.0297	10	0.45353	T	0.12	-21.2168	12.9275	0.58268	0.0:0.456:0.0:0.544	.	183;174;183;183;183;183	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	E	183;183;174;174;183;183;183	ENSP00000363923:D183E;ENSP00000437668:D183E;ENSP00000448104:D174E;ENSP00000416320:D174E;ENSP00000363918:D183E;ENSP00000396722:D183E;ENSP00000363916:D183E	ENSP00000363916:D183E	D	+	3	2	NTM	131682815	0.711000	0.27906	0.992000	0.48379	0.938000	0.57974	-0.262000	0.08682	-0.343000	0.08351	-0.373000	0.07131	GAC		0.493	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		5	32	1	0	0.000602214	0.000602	0.000682885	5	32				
NTM	50863	broad.mit.edu	37	11	132204969	132204969	+	Missense_Mutation	SNP	G	G	T	rs200656449		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:132204969G>T	ENST00000374786.1	+	7	1443	c.964G>T	c.(964-966)Ggc>Tgc	p.G322C	NTM_ENST00000427481.2_Missense_Mutation_p.G324C|NTM_ENST00000539799.1_Missense_Mutation_p.G333C|NTM_ENST00000374791.3_Missense_Mutation_p.G322C|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.G333C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	322					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G322C(4)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGTGAGCAACGGCACGTCGAG	0.602																																							uc001qgp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(964-966)GGC>TGC		neurotrimin isoform 1							113.0	114.0	113.0					11																	132204969		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132204969G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.964G>T	11.37:g.132204969G>T	ENSP00000363918:p.Gly322Cys					NTM_uc001qgm.2_Missense_Mutation_p.G322C|NTM_uc010sch.1_Missense_Mutation_p.G324C|NTM_uc010sci.1_Missense_Mutation_p.G333C|NTM_uc010scj.1_Missense_Mutation_p.G281C|NTM_uc001qgq.2_Missense_Mutation_p.G333C|NTM_uc001qgr.2_Missense_Mutation_p.G104C	p.G322C	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			7	1628	+			322					A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.964G>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212816	0.39102	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719	T;T;T;T;T	0.61040	0.16;0.19;0.14;0.18;0.17	5.13	4.17	0.49024	.	0.399810	0.27198	N	0.020477	T	0.66046	0.2750	L	0.44542	1.39	0.39609	D	0.969856	B;D;D;D;D;B	0.76494	0.015;0.999;0.999;0.999;0.995;0.099	B;D;D;D;P;B	0.70016	0.06;0.959;0.927;0.967;0.902;0.087	T	0.68546	-0.5380	10	0.66056	D	0.02	-9.9922	10.6718	0.45762	0.0955:0.0:0.9045:0.0	.	333;324;281;333;322;322	B7Z1Z5;B7Z1I4;B7Z1H3;Q9P121-4;Q9P121;Q9P121-2	.;.;.;.;NTRI_HUMAN;.	C	322;333;324;322;333	ENSP00000363923:G322C;ENSP00000437668:G333C;ENSP00000416320:G324C;ENSP00000363918:G322C;ENSP00000396722:G333C	ENSP00000363918:G322C	G	+	1	0	NTM	131710179	0.763000	0.28462	0.901000	0.35422	0.510000	0.34073	1.449000	0.35123	1.073000	0.40885	-0.355000	0.07637	GGC		0.602	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		6	83	1	0	2.0095e-06	0.001984	2.69165e-06	6	83				
RAD51AP1	10635	broad.mit.edu	37	12	4665604	4665604	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:4665604T>C	ENST00000352618.4	+	8	857	c.807T>C	c.(805-807)acT>acC	p.T269T	RAD51AP1_ENST00000228843.9_Silent_p.T286T|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000543041.1_Silent_p.T151T	NM_006479.4	NP_006470.1			RAD51 associated protein 1									p.T269T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CAGATACCACTAGGAAACCAT	0.433																																							uc001qmw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(856-858)ACT>ACC		RAD51 associated protein 1 isoform a							89.0	87.0	88.0					12																	4665604		2203	4300	6503	SO:0001819	synonymous_variant	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4665604T>C	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.807T>C	12.37:g.4665604T>C						RAD51AP1_uc001qmu.2_Silent_p.T269T|RAD51AP1_uc001qmv.2_Silent_p.T232T|RAD51AP1_uc010sep.1_Silent_p.T151T|RAD51AP1_uc010seq.1_Silent_p.T151T|RAD51AP1_uc009zeg.2_Intron	p.T286T	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		9	1014	+			286						Silent	SNP	ENST00000352618.4	37	c.858T>C	CCDS8529.1	.	.	.	.	.	.	.	.	.	.	T	7.268	0.606636	0.14002	.	.	ENSG00000111247	ENST00000536117	.	.	.	4.51	-2.1	0.07210	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1756	4.99	0.14209	0.0:0.3791:0.1691:0.4518	.	.	.	.	Q	238	.	.	X	+	1	0	RAD51AP1	4535865	0.001000	0.12720	0.118000	0.21660	0.844000	0.47949	-0.091000	0.11146	-0.575000	0.05982	0.482000	0.46254	TAG		0.433	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479		14	43	0	0	0	0.00245	0	14	43				
PEX5	5830	broad.mit.edu	37	12	7362816	7362816	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:7362816G>T	ENST00000455147.2	+	17	2497	c.1917G>T	c.(1915-1917)caG>caT	p.Q639H	PEX5_ENST00000266563.5_Missense_Mutation_p.Q602H|PEX5_ENST00000412720.2_Missense_Mutation_p.Q660H|PEX5_ENST00000434354.2_Missense_Mutation_p.Q654H|PEX5_ENST00000420616.2_Missense_Mutation_p.Q639H|PEX5_ENST00000266564.3_Missense_Mutation_p.Q631H	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	639					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.Q631H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCCTGCCCCAGTGACAGTGGG	0.622																																							uc009zfu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1915-1917)CAG>CAT		peroxisomal biogenesis factor 5 isoform d							58.0	52.0	54.0					12																	7362816		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7362816G>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1917G>T	12.37:g.7362816G>T	ENSP00000400647:p.Gln639His					PEX5_uc001qsw.2_Missense_Mutation_p.Q639H|PEX5_uc010sgc.1_Missense_Mutation_p.Q654H|PEX5_uc001qsu.2_Missense_Mutation_p.Q602H|PEX5_uc010sgd.1_Missense_Mutation_p.Q660H|PEX5_uc001qsv.2_Missense_Mutation_p.Q631H	p.Q639H	NM_001131026	NP_001124498	P50542	PEX5_HUMAN			17	2497	+			639					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.1917G>T	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360692	0.61403	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000266564	D;D;D;D;D;D	0.88354	-2.32;-2.28;-2.34;-2.32;-2.37;-2.33	5.1	4.21	0.49690	.	0.066385	0.64402	D	0.000010	D	0.87962	0.6310	N	0.22421	0.69	0.34976	D	0.753607	D;D;D;D;B	0.63880	0.982;0.993;0.966;0.989;0.123	P;P;P;P;B	0.60473	0.593;0.872;0.875;0.707;0.124	D	0.91146	0.4949	10	0.87932	D	0	-2.1082	10.2824	0.43548	0.1516:0.0:0.8484:0.0	.	660;654;639;631;602	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	H	639;602;654;639;660;631	ENSP00000400647:Q639H;ENSP00000266563:Q602H;ENSP00000407401:Q654H;ENSP00000410159:Q639H;ENSP00000391601:Q660H;ENSP00000266564:Q631H	ENSP00000266563:Q602H	Q	+	3	2	PEX5	7254083	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.215000	0.51169	1.376000	0.46267	0.561000	0.74099	CAG		0.622	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		12	37	1	0	0.00010058	0.001368	0.000121128	12	37				
C3AR1	719	broad.mit.edu	37	12	8211786	8211786	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:8211786G>T	ENST00000307637.4	-	2	1199	c.996C>A	c.(994-996)ccC>ccA	p.P332P		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	332					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.P332P(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTGCCACGAGGGGTGTTGGCA	0.473																																							uc001qtv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(994-996)CCC>CCA		complement component 3a receptor 1							161.0	151.0	154.0					12																	8211786		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211786G>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.996C>A	12.37:g.8211786G>T							p.P332P	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1088	-			332			Extracellular (Potential).		O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.996C>A	CCDS8588.1																																																																																				0.473	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			8	63	1	0	0.000274275	0.004482	0.000319476	8	63				
A2M	2	broad.mit.edu	37	12	9225254	9225254	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:9225254G>T	ENST00000318602.7	-	30	4277	c.3970C>A	c.(3970-3972)Ctc>Atc	p.L1324I		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1324					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.L1324I(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CTCACCTGGAGGTAGACACAT	0.517																																							uc001qvk.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(3970-3972)CTC>ATC		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						148.0	148.0	148.0					12																	9225254		2131	4276	6407	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9225254G>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3970C>A	12.37:g.9225254G>T	ENSP00000323929:p.Leu1324Ile					A2M_uc001qvj.1_Missense_Mutation_p.L366I|A2M_uc009zgk.1_Missense_Mutation_p.L1174I	p.L1324I	NM_000014	NP_000005	P01023	A2MG_HUMAN			30	4083	-			1324					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3970C>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928594	0.34002	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.32988	1.43	5.98	3.06	0.35304	.	0.150185	0.45361	D	0.000369	T	0.22044	0.0531	L	0.38953	1.18	0.80722	D	1	B	0.27679	0.185	B	0.27608	0.081	T	0.04268	-1.0964	10	0.22706	T	0.39	.	9.7579	0.40515	0.0:0.2136:0.3296:0.4567	.	1324	P01023	A2MG_HUMAN	I	1324;1339	ENSP00000323929:L1324I	ENSP00000323929:L1324I	L	-	1	0	A2M	9116521	0.052000	0.20516	0.997000	0.53966	0.985000	0.73830	0.412000	0.21131	0.368000	0.24481	0.650000	0.86243	CTC		0.517	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		13	74	1	0	0.00244969	0.00245	0.00268581	13	74				
CLEC12A	160364	broad.mit.edu	37	12	10133289	10133289	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:10133289C>T	ENST00000304361.4	+	4	670	c.488C>T	c.(487-489)gCt>gTt	p.A163V	CLEC12A_ENST00000434319.2_Missense_Mutation_p.A163V|CLEC12A_ENST00000350667.4_Missense_Mutation_p.A130V|CLEC12A_ENST00000355690.4_Missense_Mutation_p.A173V	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	163	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A163V(1)|p.A173V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						GCCTGTGCTGCTCAGAATGCC	0.453																																					Melanoma(197;1487 2125 16611 22221 34855)	Melanoma(197;1487 2125 16611 22221 34855)	uc001qwr.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(487-489)GCT>GTT		myeloid inhibitory C-type lectin-like receptor							116.0	105.0	109.0					12																	10133289		2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10133289C>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.488C>T	12.37:g.10133289C>T	ENSP00000302804:p.Ala163Val					CLEC12A_uc001qwq.2_Missense_Mutation_p.A173V|CLEC12A_uc001qws.3_Missense_Mutation_p.A130V|CLEC12A_uc001qwt.2_Missense_Mutation_p.A92V	p.A163V	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN			4	676	+			163			Extracellular (Potential).|C-type lectin.		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.488C>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969409	0.53614	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667;ENST00000396506	T;T;T;T;T	0.19394	2.15;2.2;2.15;2.15;2.15	5.4	-3.51	0.04696	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.21962	0.0529	M	0.67700	2.07	0.09310	N	1	P;B;P	0.38729	0.587;0.438;0.644	B;B;B	0.39119	0.146;0.291;0.192	T	0.23048	-1.0199	9	0.51188	T	0.08	.	9.789	0.40695	0.5717:0.2034:0.2249:0.0	.	130;163;173	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	V	173;163;163;163;130;36	ENSP00000347916:A173V;ENSP00000379764:A163V;ENSP00000302804:A163V;ENSP00000405244:A163V;ENSP00000345448:A130V	ENSP00000302804:A163V	A	+	2	0	CLEC12A	10024556	0.000000	0.05858	0.000000	0.03702	0.494000	0.33585	-0.568000	0.05909	-0.494000	0.06669	-0.152000	0.13540	GCT		0.453	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		11	47	0	0	0	0.008291	0	11	47				
YBX3	8531	broad.mit.edu	37	12	10871718	10871718	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:10871718T>C	ENST00000228251.4	-	2	487	c.287A>G	c.(286-288)aAa>aGa	p.K96R	YBX3_ENST00000279550.7_Missense_Mutation_p.K96R	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	96	CSD.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.K96R(1)									GTTGAACCATTTGACAGTGCC	0.348																																							uc001qyt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|large_intestine(1)	4						c.(286-288)AAA>AGA		cold shock domain protein A isoform a							146.0	122.0	130.0					12																	10871718		2203	4299	6502	SO:0001583	missense	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10871718T>C	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.287A>G	12.37:g.10871718T>C	ENSP00000228251:p.Lys96Arg					CSDA_uc001qyu.2_Missense_Mutation_p.K96R	p.K96R	NM_003651	NP_003642	P16989	DBPA_HUMAN			2	530	-	Glioma(1;0.155)		96			CSD.		B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.287A>G	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.747435	0.89663	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.56941	0.51;0.43	5.25	5.25	0.73442	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.64402	D	0.000001	T	0.74884	0.3775	M	0.87547	2.89	0.42985	D	0.994477	D;B	0.67145	0.996;0.368	D;B	0.76071	0.987;0.297	T	0.79811	-0.1646	10	0.62326	D	0.03	.	13.3876	0.60805	0.0:0.0:0.0:1.0	.	96;96	P16989-2;P16989	.;DBPA_HUMAN	R	96	ENSP00000279550:K96R;ENSP00000228251:K96R	ENSP00000228251:K96R	K	-	2	0	CSDA	10762985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.094000	0.76944	2.100000	0.63781	0.528000	0.53228	AAA		0.348	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		12	36	0	0	0	0.00245	0	12	36				
PRB1	5542	broad.mit.edu	37	12	11506880	11506880	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:11506880G>T	ENST00000500254.2	-	3	194	c.157C>A	c.(157-159)Cct>Act	p.P53T	PRB1_ENST00000546254.1_Missense_Mutation_p.P53T|PRB1_ENST00000545626.1_Missense_Mutation_p.P53T	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)		p.P53T(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGG	0.577																																							uc001qzw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)CCT>ACT		proline-rich protein BstNI subfamily 1 isoform 1							104.0	130.0	121.0					12																	11506880		2158	4266	6424	SO:0001583	missense	5542					extracellular region		g.chr12:11506880G>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.157C>A	12.37:g.11506880G>T	ENSP00000420826:p.Pro53Thr					PRB1_uc001qzu.1_Missense_Mutation_p.P53T|PRB1_uc001qzv.1_Missense_Mutation_p.P53T	p.P53T	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	194	-			53			1.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.157C>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	0.077	-1.190107	0.01607	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.04049	3.72;3.72;3.72	1.27	0.251	0.15540	.	.	.	.	.	T	0.06872	0.0175	M	0.74389	2.26	0.09310	N	1	P;P;P	0.50710	0.938;0.938;0.938	B;B;B	0.41202	0.35;0.35;0.35	T	0.29181	-1.0020	9	0.40728	T	0.16	.	6.3136	0.21178	0.0:0.0:0.7052:0.2947	.	60;53;53	Q86YA1;G3V1R1;G3V1M9	.;.;.	T	53	ENSP00000444249:P53T;ENSP00000420826:P53T;ENSP00000442127:P53T	ENSP00000420826:P53T	P	-	1	0	PRB1	11398147	0.055000	0.20627	0.001000	0.08648	0.008000	0.06430	0.955000	0.29188	0.089000	0.17243	0.405000	0.27470	CCT		0.577	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		25	141	1	0	1.71298e-08	0.003755	2.55543e-08	25	141				
PTPRO	5800	broad.mit.edu	37	12	15733636	15733636	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:15733636C>T	ENST00000281171.4	+	22	3333	c.3003C>T	c.(3001-3003)taC>taT	p.Y1001Y	PTPRO_ENST00000348962.2_Silent_p.Y973Y|PTPRO_ENST00000544244.1_Silent_p.Y162Y|PTPRO_ENST00000542557.1_Silent_p.Y162Y|PTPRO_ENST00000445537.2_Silent_p.Y190Y|PTPRO_ENST00000442921.2_Silent_p.Y190Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1001	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.Y1001Y(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTCAGGGATACAACTCACCCC	0.438																																							uc001rcv.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(3001-3003)TAC>TAT		receptor-type protein tyrosine phosphatase O							98.0	92.0	94.0					12																	15733636		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15733636C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3003C>T	12.37:g.15733636C>T						PTPRO_uc001rcw.1_Silent_p.Y973Y|PTPRO_uc001rcx.1_Silent_p.Y190Y|PTPRO_uc001rcy.1_Silent_p.Y190Y|PTPRO_uc001rcz.1_Silent_p.Y162Y|PTPRO_uc001rda.1_Silent_p.Y162Y	p.Y1001Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			22	3177	+		Hepatocellular(102;0.244)	1001			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.3003C>T	CCDS8675.1																																																																																				0.438	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			11	42	0	0	0	0.008291	0	11	42				
PDE3A	5139	broad.mit.edu	37	12	20806975	20806975	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:20806975A>G	ENST00000359062.3	+	15	3060	c.3020A>G	c.(3019-3021)cAc>cGc	p.H1007R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1007	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.H1007R(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TTCATCTCTCACATTGTGGGG	0.507																																							uc001reh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(3019-3021)CAC>CGC		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						100.0	94.0	96.0					12																	20806975		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20806975A>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3020A>G	12.37:g.20806975A>G	ENSP00000351957:p.His1007Arg						p.H1007R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			15	3042	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1007			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3020A>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445586	0.84101	.	.	ENSG00000172572	ENST00000359062	T	0.76316	-1.01	5.31	5.31	0.75309	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88200	0.2883	10	0.87932	D	0	.	15.5617	0.76253	1.0:0.0:0.0:0.0	.	1007	Q14432	PDE3A_HUMAN	R	1007	ENSP00000351957:H1007R	ENSP00000351957:H1007R	H	+	2	0	PDE3A	20698242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.851000	0.92205	2.147000	0.66899	0.533000	0.62120	CAC		0.507	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			7	37	0	0	0	0.001984	0	7	37				
ABCC9	10060	broad.mit.edu	37	12	22040803	22040803	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:22040803T>G	ENST00000261201.4	-	13	1867	c.1868A>C	c.(1867-1869)gAa>gCa	p.E623A	ABCC9_ENST00000261200.4_Missense_Mutation_p.E623A|ABCC9_ENST00000345162.2_Missense_Mutation_p.E623A|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	623					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.E623A(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAGCGAACTTTCACCAGTTCG	0.393																																							uc001rfi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1867-1869)GAA>GCA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						120.0	116.0	117.0					12																	22040803		2202	4300	6502	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22040803T>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1868A>C	12.37:g.22040803T>G	ENSP00000261201:p.Glu623Ala					ABCC9_uc001rfh.2_Missense_Mutation_p.E623A|ABCC9_uc001rfj.1_Missense_Mutation_p.E623A	p.E623A	NM_005691	NP_005682	O60706	ABCC9_HUMAN			13	1888	-			623			Cytoplasmic (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1868A>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141120	0.37825	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92545	-3.04;-2.92;-3.05;-3.06	5.16	5.16	0.70880	.	0.099482	0.64402	D	0.000002	D	0.88160	0.6362	L	0.39898	1.24	0.44668	D	0.997659	B;B	0.12630	0.006;0.0	B;B	0.09377	0.004;0.002	D	0.84272	0.0489	10	0.35671	T	0.21	-22.1952	14.8118	0.70000	0.0:0.0:0.0:1.0	.	623;623	O60706;O60706-2	ABCC9_HUMAN;.	A	623;286;623;623	ENSP00000261200:E623A;ENSP00000440521:E286A;ENSP00000261201:E623A;ENSP00000261202:E623A	ENSP00000261200:E623A	E	-	2	0	ABCC9	21932070	1.000000	0.71417	0.141000	0.22245	0.537000	0.34900	5.264000	0.65513	2.179000	0.69175	0.459000	0.35465	GAA		0.393	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		15	57	0	0	0	0.004007	0	15	57				
ETNK1	55500	broad.mit.edu	37	12	22811970	22811970	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:22811970A>C	ENST00000266517.4	+	3	795	c.706A>C	c.(706-708)Aaa>Caa	p.K236Q		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	236					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.K236Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGCTTGCTAAAATCCATGC	0.378																																					Esophageal Squamous(42;87 913 3224 6226 43339)	Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(706-708)AAA>CAA		ethanolamine kinase 1 isoform A							105.0	100.0	102.0					12																	22811970		2203	4300	6503	SO:0001583	missense	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22811970A>C	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.706A>C	12.37:g.22811970A>C	ENSP00000266517:p.Lys236Gln					ETNK1_uc009ziz.2_Missense_Mutation_p.K236Q	p.K236Q	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			3	728	+			236	RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111).				G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	c.706A>C	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.709597	0.30322	.	.	ENSG00000139163	ENST00000266517;ENST00000381409	T	0.60171	0.21	5.23	5.23	0.72850	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.33710	1.025	0.80722	D	1	B;P	0.37370	0.392;0.592	B;P	0.45276	0.349;0.475	T	0.48937	-0.8990	10	0.23302	T	0.38	-14.4593	13.6824	0.62493	1.0:0.0:0.0:0.0	.	236;236	E9PD44;Q9HBU6	.;EKI1_HUMAN	Q	236	ENSP00000266517:K236Q	ENSP00000266517:K236Q	K	+	1	0	ETNK1	22703237	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.287000	0.59001	1.987000	0.57996	0.397000	0.26171	AAA		0.378	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		10	39	0	0	0	0.001368	0	10	39				
LRMP	4033	broad.mit.edu	37	12	25232384	25232384	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:25232384A>G	ENST00000354454.3	+	7	953	c.124A>G	c.(124-126)Ata>Gta	p.I42V	LRMP_ENST00000548766.1_Missense_Mutation_p.I42V|LRMP_ENST00000547044.1_Missense_Mutation_p.I42V	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	98					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I42V(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AGACGGTACTATAACTTCAAG	0.393																																							uc001rgh.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(1)|skin(1)	2						c.(124-126)ATA>GTA		lymphoid-restricted membrane protein							132.0	129.0	130.0					12																	25232384		2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25232384A>G		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.124A>G	12.37:g.25232384A>G	ENSP00000346442:p.Ile42Val					LRMP_uc001rgg.1_RNA|LRMP_uc010sja.1_Missense_Mutation_p.I42V|LRMP_uc010sjb.1_5'UTR|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.I42V|LRMP_uc010sjd.1_5'UTR	p.I42V	NM_006152	NP_006143	Q12912	LRMP_HUMAN			7	1158	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		98			Cytoplasmic (Potential).		A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.124A>G	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	A	6.680	0.493994	0.12702	.	.	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62	4.27	2.42	0.29668	.	0.458028	0.18310	N	0.145146	T	0.02047	0.0064	N	0.00162	-1.95	0.19945	N	0.99994	B	0.02656	0.0	B	0.04013	0.001	T	0.43669	-0.9377	10	0.02654	T	1	-7.1878	6.3122	0.21171	0.2294:0.0:0.7706:0.0	.	98	Q12912	LRMP_HUMAN	V	42	ENSP00000448534:I42V;ENSP00000452116:I42V;ENSP00000346442:I42V;ENSP00000446496:I42V;ENSP00000450634:I42V;ENSP00000450246:I42V	ENSP00000346442:I42V	I	+	1	0	LRMP	25123651	0.457000	0.25752	0.697000	0.30258	0.906000	0.53458	0.649000	0.24843	0.731000	0.32448	-0.462000	0.05337	ATA		0.393	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		23	59	0	0	0	0.00278	0	23	59				
ITPR2	3709	broad.mit.edu	37	12	26568288	26568288	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:26568288C>A	ENST00000381340.3	-	51	7670	c.7254G>T	c.(7252-7254)aaG>aaT	p.K2418N	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2418					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.K2418N(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGAAGTCATCCTTCAAAAAAA	0.408																																							uc001rhg.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(7252-7254)AAG>AAT		inositol 1,4,5-triphosphate receptor, type 2							117.0	115.0	115.0					12																	26568288		1848	4079	5927	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26568288C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7254G>T	12.37:g.26568288C>A	ENSP00000370744:p.Lys2418Asn					ITPR2_uc009zjg.1_Missense_Mutation_p.K569N	p.K2418N	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			51	7671	-	Colorectal(261;0.0847)		2418			Extracellular (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7254G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175206	0.57692	.	.	ENSG00000123104	ENST00000381340	D	0.98585	-5.01	5.08	0.989	0.19802	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.97277	0.9915	10	0.49607	T	0.09	.	8.9698	0.35899	0.0:0.5491:0.0:0.4509	.	2418	Q14571	ITPR2_HUMAN	N	2418	ENSP00000370744:K2418N	ENSP00000370744:K2418N	K	-	3	2	ITPR2	26459555	0.170000	0.23016	1.000000	0.80357	0.980000	0.70556	-0.512000	0.06313	0.325000	0.23359	-0.216000	0.12614	AAG		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		17	53	1	0	1.55795e-14	0.001882	2.68129e-14	17	53				
TMTC1	83857	broad.mit.edu	37	12	29908738	29908738	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:29908738C>A	ENST00000539277.1	-	4	693	c.635G>T	c.(634-636)gGg>gTg	p.G212V	TMTC1_ENST00000381224.2_Missense_Mutation_p.G104V|TMTC1_ENST00000256062.5_Missense_Mutation_p.G104V|TMTC1_ENST00000551659.1_Missense_Mutation_p.G212V|TMTC1_ENST00000552618.1_Missense_Mutation_p.G212V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	212						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G104V(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CGCACAGGTCCCCAGAAACAA	0.493																																							uc001rjb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(310-312)GGG>GTG		transmembrane and tetratricopeptide repeat							101.0	92.0	95.0					12																	29908738		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29908738C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.635G>T	12.37:g.29908738C>A	ENSP00000442046:p.Gly212Val					TMTC1_uc001rjc.1_Missense_Mutation_p.G104V	p.G104V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			4	785	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		212			Helical; (Potential).		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.311G>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764966	0.90020	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.69306	-0.39;-0.12;-0.37;-0.24;1.44	5.45	5.45	0.79879	.	0.107986	0.64402	D	0.000005	T	0.73528	0.3598	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.989	T	0.71374	-0.4612	9	.	.	.	-23.1632	17.8618	0.88784	0.0:1.0:0.0:0.0	.	104;212	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	V	104;212;212;212;104	ENSP00000256062:G104V;ENSP00000448112:G212V;ENSP00000449043:G212V;ENSP00000442046:G212V;ENSP00000370622:G104V	.	G	-	2	0	TMTC1	29800005	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.881000	0.75584	2.555000	0.86185	0.563000	0.77884	GGG		0.493	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		4	28	1	0	0.00024832	0.009096	0.000292993	4	28				
CAPRIN2	65981	broad.mit.edu	37	12	30883196	30883196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:30883196G>A	ENST00000395805.2	-	7	1628	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	CAPRIN2_ENST00000251071.5_Nonsense_Mutation_p.Q361*|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q361*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q28*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q361*	NM_001206856.1	NP_001193785.1			caprin family member 2									p.Q361*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATCTCTGGCTGGGCAAATTCC	0.363																																							uc001rji.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1081-1083)CAG>TAG		C1q domain containing 1 isoform 1							118.0	110.0	113.0					12																	30883196		2203	4300	6503	SO:0001587	stop_gained	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30883196G>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1081C>T	12.37:g.30883196G>A	ENSP00000379150:p.Gln361*					CAPRIN2_uc001rjf.1_Nonsense_Mutation_p.Q158*|CAPRIN2_uc001rjg.1_Nonsense_Mutation_p.Q28*|CAPRIN2_uc001rjh.1_Nonsense_Mutation_p.Q361*|CAPRIN2_uc001rjj.1_Nonsense_Mutation_p.Q28*|CAPRIN2_uc001rjk.3_Nonsense_Mutation_p.Q361*|CAPRIN2_uc001rjl.3_Nonsense_Mutation_p.Q361*|CAPRIN2_uc001rjm.1_Nonsense_Mutation_p.Q28*|CAPRIN2_uc001rjn.1_Nonsense_Mutation_p.Q28*	p.Q361*	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			7	1832	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		361						Nonsense_Mutation	SNP	ENST00000395805.2	37	c.1081C>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937960	0.92526	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	.	.	.	5.38	4.47	0.54385	.	0.428871	0.22910	N	0.054143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-4.6456	10.2125	0.43150	0.0:0.1376:0.7005:0.162	.	.	.	.	X	107;361;361;361;28;361;87;280	.	ENSP00000251071:Q361X	Q	-	1	0	CAPRIN2	30774463	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.778000	0.55371	1.224000	0.43551	0.650000	0.86243	CAG		0.363	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		6	29	0	0	0	0.001168	0	6	29				
PKP2	5318	broad.mit.edu	37	12	32977015	32977015	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:32977015G>A	ENST00000070846.6	-	8	1794	c.1770C>T	c.(1768-1770)gtC>gtT	p.V590V	PKP2_ENST00000340811.4_Silent_p.V546V	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	590					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.V590V(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTTCCTCTGACATAATGGA	0.388																																							uc001rlj.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1768-1770)GTC>GTT		plakophilin 2 isoform 2b							159.0	134.0	142.0					12																	32977015		2203	4300	6503	SO:0001819	synonymous_variant	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32977015G>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1770C>T	12.37:g.32977015G>A						PKP2_uc001rlk.3_Silent_p.V546V|PKP2_uc010skj.1_Silent_p.V546V	p.V590V	NM_004572	NP_004563	Q99959	PKP2_HUMAN			8	1885	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		590			ARM 4.		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	c.1770C>T	CCDS8731.1																																																																																				0.388	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		5	42	0	0	0	0.001984	0	5	42				
PKP2	5318	broad.mit.edu	37	12	33031388	33031389	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:33031388_33031389CC>AA	ENST00000070846.6	-	3	449_450	c.425_426GG>TT	c.(424-426)aGG>aTT	p.R142I	PKP2_ENST00000340811.4_Missense_Mutation_p.R142I	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	142					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.R142I(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAGAGGATGCCTCAAGGACCT	0.569																																							uc001rlj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(424-426)AGG>ATT		plakophilin 2 isoform 2b																																				SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031388_33031389CC>AA	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.425_426delinsAA	12.37:g.33031388_33031389delinsAA	ENSP00000070846:p.Arg142Ile					PKP2_uc001rlk.3_Missense_Mutation_p.R142I|PKP2_uc010skj.1_Missense_Mutation_p.R142I	p.R142I	NM_004572	NP_004563	Q99959	PKP2_HUMAN			3	540_541	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		142					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	DNP	ENST00000070846.6	37	c.425_426GG>TT	CCDS8731.1																																																																																				0.569	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		44	179	0	0	0	0.004672	0	44	179				
KIF21A	55605	broad.mit.edu	37	12	39705243	39705243	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:39705243C>T	ENST00000361418.5	-	32	4087	c.4072G>A	c.(4072-4074)Gat>Aat	p.D1358N	KIF21A_ENST00000361961.3_Missense_Mutation_p.D1345N|KIF21A_ENST00000395670.3_Missense_Mutation_p.D1359N|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000544797.2_Missense_Mutation_p.D1321N|KIF21A_ENST00000541463.2_Missense_Mutation_p.D1305N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1358					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.D1345N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGAGGAGATCATCAGTAGAA	0.343																																							uc001rly.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(4072-4074)GAT>AAT		kinesin family member 21A							141.0	132.0	135.0					12																	39705243		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39705243C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4072G>A	12.37:g.39705243C>T	ENSP00000354878:p.Asp1358Asn					KIF21A_uc001rlv.2_Missense_Mutation_p.D303N|KIF21A_uc001rlw.2_Missense_Mutation_p.D628N|KIF21A_uc001rlx.2_Missense_Mutation_p.D1345N|KIF21A_uc001rlz.2_Missense_Mutation_p.D1305N|KIF21A_uc010skl.1_Missense_Mutation_p.D1321N|KIF21A_uc001rlt.2_5'UTR|KIF21A_uc001rlu.2_5'UTR	p.D1358N	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			32	4218	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1358			WD 1.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.4072G>A	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.338985|5.338985	0.95783|0.95783	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T;T|.	0.67171|.	0.02;0.02;0.02;0.02;0.02;-0.25|.	5.31|5.31	5.31|5.31	0.75309|0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.53938|.	D|.	0.000057|.	T|T	0.49677|0.49677	0.1571|0.1571	N|N	0.12422|0.12422	0.21|0.21	0.53688|0.53688	D|D	0.999975|0.999975	D;P;D;D;D;D|.	0.89917|.	0.998;0.808;0.998;0.993;1.0;1.0|.	D;P;D;P;D;D|.	0.81914|.	0.995;0.503;0.975;0.879;0.988;0.992|.	T|T	0.45425|0.45425	-0.9262|-0.9262	10|5	0.66056|.	D|.	0.02|.	.|.	18.9853|18.9853	0.92767|0.92767	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1321;1305;1358;1345;1311;345|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	N|I	1345;1359;1311;345;339;1321;1358;1305|658	ENSP00000354851:D1345N;ENSP00000379029:D1359N;ENSP00000448792:D339N;ENSP00000445606:D1321N;ENSP00000354878:D1358N;ENSP00000438075:D1305N|.	ENSP00000344501:D1311N|.	D|M	-|-	1|3	0|0	KIF21A|KIF21A	37991510|37991510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.332000|7.332000	0.79203|0.79203	2.458000|2.458000	0.83093|0.83093	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		13	62	0	0	0	0.001855	0	13	62				
LRRK2	120892	broad.mit.edu	37	12	40689247	40689247	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:40689247C>T	ENST00000298910.7	+	23	2955	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	LRRK2_ENST00000343742.2_Missense_Mutation_p.S966F	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	966					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.S966F(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAACTTCAATCCCATATGAGG	0.338																																							uc001rmg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(2896-2898)TCC>TTC		leucine-rich repeat kinase 2							58.0	61.0	60.0					12																	40689247		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40689247C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2897C>T	12.37:g.40689247C>T	ENSP00000298910:p.Ser966Phe					LRRK2_uc001rmh.1_Missense_Mutation_p.S588F|LRRK2_uc009zjw.2_5'UTR	p.S966F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			23	3018	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	966					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2897C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142369	0.21205	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.25414	2.2;1.8	5.48	4.59	0.56863	.	0.678975	0.14953	N	0.288805	T	0.17066	0.0410	N	0.24115	0.695	0.09310	N	1	P;P	0.42409	0.779;0.498	B;B	0.37304	0.246;0.166	T	0.07790	-1.0754	10	0.56958	D	0.05	.	9.6612	0.39956	0.0:0.7809:0.0:0.2191	.	966;966	E9PC85;Q5S007	.;LRRK2_HUMAN	F	966	ENSP00000341930:S966F;ENSP00000298910:S966F	ENSP00000298910:S966F	S	+	2	0	LRRK2	38975514	0.017000	0.18338	0.003000	0.11579	0.986000	0.74619	2.711000	0.47177	1.309000	0.44985	0.591000	0.81541	TCC		0.338	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		6	47	0	0	0	0.001168	0	6	47				
CNTN1	1272	broad.mit.edu	37	12	41323782	41323782	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:41323782C>A	ENST00000551295.2	+	7	798	c.681C>A	c.(679-681)atC>atA	p.I227I	CNTN1_ENST00000360099.3_Silent_p.I227I|CNTN1_ENST00000347616.1_Silent_p.I227I|CNTN1_ENST00000348761.2_Silent_p.I216I|CNTN1_ENST00000547849.1_Silent_p.I227I|CNTN1_ENST00000547702.1_Silent_p.I227I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	227					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.I227I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCAAATTCATCCCACTCATTC	0.363																																							uc001rmm.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(679-681)ATC>ATA		contactin 1 isoform 1 precursor							168.0	161.0	163.0					12																	41323782		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41323782C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.681C>A	12.37:g.41323782C>A						CNTN1_uc009zjy.1_Silent_p.I227I|CNTN1_uc001rmn.1_Silent_p.I216I|CNTN1_uc001rmo.2_Silent_p.I227I	p.I227I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			7	794	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	227					A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.681C>A	CCDS8737.1																																																																																				0.363	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		17	106	1	0	8.60227e-14	0.004007	1.46662e-13	17	106				
ADAMTS20	80070	broad.mit.edu	37	12	43826486	43826486	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:43826486C>A	ENST00000389420.3	-	20	2848	c.2849G>T	c.(2848-2850)gGt>gTt	p.G950V	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G104V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G950V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	950	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G950V(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAGCTGGTCACCACAGTAGTG	0.413																																							uc010skx.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2848-2850)GGT>GTT		a disintegrin-like and metalloprotease with							180.0	154.0	163.0					12																	43826486		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826486C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2849G>T	12.37:g.43826486C>A	ENSP00000374071:p.Gly950Val					ADAMTS20_uc001rno.1_Missense_Mutation_p.G104V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G104V	p.G950V	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	20	2849	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	950			TSP type-1 3.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2849G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	8.871	0.949370	0.18356	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61627	0.27;0.22;0.22;0.09	4.34	3.43	0.39272	.	0.726422	0.12115	N	0.498174	T	0.53238	0.1784	L	0.51422	1.61	0.09310	N	1	B;P	0.48911	0.107;0.917	B;B	0.41813	0.044;0.367	T	0.40776	-0.9545	10	0.30854	T	0.27	.	14.4639	0.67470	0.0:0.621:0.379:0.0	.	950;104	P59510;E9PBD5	ATS20_HUMAN;.	V	950;116;104;950;950	ENSP00000374071:G950V;ENSP00000447427:G116V;ENSP00000378911:G104V;ENSP00000448341:G950V	ENSP00000374068:G950V	G	-	2	0	ADAMTS20	42112753	0.006000	0.16342	0.019000	0.16419	0.397000	0.30659	1.978000	0.40598	1.094000	0.41399	-0.211000	0.12701	GGT		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		9	56	1	0	1.58986e-06	0.008291	2.14735e-06	9	56				
IRAK4	51135	broad.mit.edu	37	12	44167770	44167770	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:44167770G>T	ENST00000448290.2	+	6	725	c.654G>T	c.(652-654)atG>atT	p.M218I	IRAK4_ENST00000551736.1_Missense_Mutation_p.M218I|IRAK4_ENST00000440781.2_Missense_Mutation_p.M94I|IRAK4_ENST00000431837.1_Missense_Mutation_p.M94I	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M218I(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTTTTCAGATGGTTGACATTA	0.358																																							uc001rnu.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(652-654)ATG>ATT		interleukin-1 receptor-associated kinase 4							103.0	104.0	103.0					12																	44167770		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44167770G>T	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.654G>T	12.37:g.44167770G>T	ENSP00000390651:p.Met218Ile					IRAK4_uc001rnt.3_Missense_Mutation_p.M218I|IRAK4_uc001rnx.3_Missense_Mutation_p.M94I|IRAK4_uc001rny.3_Missense_Mutation_p.M94I|IRAK4_uc010sky.1_Missense_Mutation_p.M94I|IRAK4_uc001rnv.3_Missense_Mutation_p.M94I|IRAK4_uc001rnw.3_Missense_Mutation_p.M94I	p.M218I	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	7	784	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	218			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.654G>T	CCDS8744.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.967661|1.967661	0.34754|0.34754	.|.	.|.	ENSG00000198001|ENSG00000198001	ENST00000356669|ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	.|T;T;T;T	.|0.64991	.|-0.13;-0.13;-0.13;-0.13	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.234173	.|0.49305	.|D	.|0.000158	T|T	0.47173|0.47173	0.1431|0.1431	N|N	0.16201|0.16201	0.385|0.385	0.43688|0.43688	D|D	0.996138|0.996138	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.38373|0.38373	-0.9664|-0.9664	6|10	0.87932|0.45353	D|T	0|0.12	-13.3073|-13.3073	15.7772|15.7772	0.78232|0.78232	0.0:0.1363:0.8637:0.0|0.0:0.1363:0.8637:0.0	.|.	.|218	.|Q9NWZ3	.|IRAK4_HUMAN	C|I	218|94;94;218;218	.|ENSP00000408734:M94I;ENSP00000390327:M94I;ENSP00000390651:M218I;ENSP00000446490:M218I	ENSP00000349096:G218C|ENSP00000390327:M94I	G|M	+|+	1|3	0|0	IRAK4|IRAK4	42454037|42454037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	4.173000|4.173000	0.58249|0.58249	2.601000|2.601000	0.87937|0.87937	0.579000|0.579000	0.79373|0.79373	GGT|ATG		0.358	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			3	19	1	0	0.004672	0.004672	0.00503511	3	19				
SLC38A4	55089	broad.mit.edu	37	12	47186734	47186734	+	Splice_Site	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:47186734A>T	ENST00000447411.1	-	2	326		c.e2+1		SLC38A4_ENST00000266579.4_Splice_Site	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4						amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTAACCCCATACCTGCTCATT	0.408																																							uc001rpi.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.e3+1		solute carrier family 38, member 4							226.0	209.0	215.0					12																	47186734		2203	4300	6503	SO:0001630	splice_region_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47186734A>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.119+1T>A	12.37:g.47186734A>T						SLC38A4_uc001rpj.2_Splice_Site_p.S40_splice|SLC38A4_uc009zkl.2_Splice_Site_p.S40_splice	p.S40_splice	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			3	518	-	Lung SC(27;0.192)|Renal(347;0.236)							A8K553	Splice_Site	SNP	ENST00000447411.1	37	c.119_splice	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.278445	0.80692	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.671	0.77274	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A4	45473001	1.000000	0.71417	0.993000	0.49108	0.898000	0.52572	6.165000	0.71891	2.119000	0.64992	0.482000	0.46254	.		0.408	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		Intron	36	146	0	0	0	0.006999	0	36	146				
ADCY6	112	broad.mit.edu	37	12	49170083	49170083	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:49170083T>A	ENST00000307885.4	-	7	2280	c.1586A>T	c.(1585-1587)gAg>gTg	p.E529V	ADCY6_ENST00000357869.3_Missense_Mutation_p.E529V|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.E529V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	529					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.E529V(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGCTCCACCTCGTAGTCCCC	0.627																																							uc001rsh.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1585-1587)GAG>GTG		adenylate cyclase 6 isoform a							133.0	104.0	114.0					12																	49170083		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49170083T>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1586A>T	12.37:g.49170083T>A	ENSP00000311405:p.Glu529Val					ADCY6_uc001rsj.3_Missense_Mutation_p.E529V|ADCY6_uc001rsi.3_Missense_Mutation_p.E529V|ADCY6_uc010slw.1_5'Flank	p.E529V	NM_015270	NP_056085	O43306	ADCY6_HUMAN			7	2246	-			529			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1586A>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733213	0.69189	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.85411	-1.98;-1.98;-1.98	4.0	4.0	0.46444	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.64402	D	0.000001	D	0.83027	0.5165	L	0.54863	1.705	0.80722	D	1	B;P	0.42785	0.342;0.79	B;B	0.43301	0.284;0.415	D	0.84670	0.0711	10	0.59425	D	0.04	.	12.3193	0.54975	0.0:0.0:0.0:1.0	.	529;529	O43306-2;O43306	.;ADCY6_HUMAN	V	529	ENSP00000350536:E529V;ENSP00000446730:E529V;ENSP00000311405:E529V	ENSP00000311405:E529V	E	-	2	0	ADCY6	47456350	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	6.058000	0.71126	1.815000	0.52974	0.260000	0.18958	GAG		0.627	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		9	34	0	0	0	0.006214	0	9	34				
WNT10B	7480	broad.mit.edu	37	12	49360250	49360250	+	Silent	SNP	T	T	A	rs201436766		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:49360250T>A	ENST00000301061.4	-	5	1146	c.798A>T	c.(796-798)ccA>ccT	p.P266P	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	266					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.P266P(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CCCGGAACTCTGGGGCCGCCC	0.607																																							uc001rss.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|lung(3)	7						c.(796-798)CCA>CCT		wingless-type MMTV integration site family,							28.0	33.0	31.0					12																	49360250		2200	4296	6496	SO:0001819	synonymous_variant	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49360250T>A	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.798A>T	12.37:g.49360250T>A						WNT10B_uc001rst.2_3'UTR	p.P266P	NM_003394	NP_003385	O00744	WN10B_HUMAN			5	1144	-			266					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Silent	SNP	ENST00000301061.4	37	c.798A>T	CCDS8775.1																																																																																				0.607	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		3	34	0	0	0	0.009096	0	3	34				
MCRS1	10445	broad.mit.edu	37	12	49959862	49959862	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:49959862G>T	ENST00000550165.1	-	4	413	c.147C>A	c.(145-147)tcC>tcA	p.S49S	MCRS1_ENST00000546244.1_Intron|MCRS1_ENST00000357123.4_Silent_p.S62S|MCRS1_ENST00000343810.4_Silent_p.S49S			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	49	Ser-rich.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S62S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CTTACTACCTGGAGGAGCTTC	0.607																																							uc001ruk.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(145-147)TCC>TCA		microspherule protein 1 isoform 1							106.0	100.0	102.0					12																	49959862		2203	4300	6503	SO:0001819	synonymous_variant	10445				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49959862G>T	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.147C>A	12.37:g.49959862G>T						MCRS1_uc001rui.1_Silent_p.S62S|MCRS1_uc001ruj.1_Silent_p.S36S|MCRS1_uc001rul.1_Silent_p.S49S|MCRS1_uc009zlj.1_Intron|MCRS1_uc001rum.1_Silent_p.S36S|MCRS1_uc001run.1_Silent_p.S49S	p.S49S	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN			3	338	-			49			Ser-rich.		O14742|O75497|Q6VN53|Q7Z372	Silent	SNP	ENST00000550165.1	37	c.147C>A	CCDS8787.1																																																																																				0.607	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		15	76	1	0	5.3912e-06	0.006122	7.08447e-06	15	76				
FIGNL2	401720	broad.mit.edu	37	12	52215878	52215878	+	lincRNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:52215878G>T	ENST00000562343.2	+	0	4188				RP11-923I11.4_ENST00000567167.1_lincRNA																							TGAGGCCAAGGGGTAGGGTGG	0.711																																							uc001rzc.2		NA																	0					0						c.(319-321)CCC>CAC		fidgetin-like 2							15.0	16.0	16.0					12																	52215878		1857	4073	5930			401720						ATP binding|nucleoside-triphosphatase activity	g.chr12:52215878G>T																													12.37:g.52215878G>T							p.P107H	NM_001013690	NP_001013712	A6NMB9	FIGL2_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.135)	1	331	-			107						Missense_Mutation	SNP	ENST00000562343.2	37	c.320C>A																																																																																					0.711	RP11-923I11.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430848.2			3	8	1	0	0.004672	0.004672	0.00503511	3	8				
KRT6B	3854	broad.mit.edu	37	12	52845437	52845437	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:52845437C>A	ENST00000252252.3	-	1	473	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	142	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.Q142H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAGGAGACTCTGGTTGACAG	0.622																																							uc001sak.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(424-426)CAG>CAT		keratin 6B							138.0	181.0	166.0					12																	52845437		2200	4300	6500	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845437C>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.426G>T	12.37:g.52845437C>A	ENSP00000252252:p.Gln142His						p.Q142H	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	474	-			142			Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.426G>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380440	0.61845	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.93659	-3.26	3.28	3.28	0.37604	.	0.000000	0.56097	D	0.000026	D	0.95092	0.8410	M	0.91510	3.215	0.40793	D	0.983276	P	0.40553	0.721	P	0.46479	0.518	D	0.95846	0.8870	10	0.72032	D	0.01	.	10.7121	0.45990	0.0:0.9027:0.0:0.0973	.	142	P04259	K2C6B_HUMAN	H	142	ENSP00000252252:Q142H	ENSP00000252252:Q142H	Q	-	3	2	KRT6B	51131704	.	.	0.971000	0.41717	0.919000	0.55068	.	.	2.160000	0.67779	0.298000	0.19748	CAG		0.622	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		9	77	1	0	2.74318e-10	0.006214	4.36034e-10	9	77				
KRT5	3852	broad.mit.edu	37	12	52912811	52912811	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:52912811A>T	ENST00000252242.4	-	2	1079	c.689T>A	c.(688-690)cTg>cAg	p.L230Q		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	230	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.L230Q(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GATGCTGTCCAGCTGCCTCCT	0.587																																							uc001san.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(688-690)CTG>CAG		keratin 5							165.0	153.0	157.0					12																	52912811		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52912811A>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.689T>A	12.37:g.52912811A>T	ENSP00000252242:p.Leu230Gln					KRT5_uc009zmh.2_Missense_Mutation_p.L230Q	p.L230Q	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	852	-			230			Rod.|Coil 1B.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.689T>A	CCDS8830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.796467|4.796467	0.90453|0.90453	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420|ENST00000551188	D;D|.	0.92495|.	-3.05;-3.05|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Filament (1);|.	0.000000|.	0.43416|.	D|.	0.000569|.	D|D	0.86447|0.86447	0.5935|0.5935	H|H	0.94385|0.94385	3.53|3.53	0.51482|0.51482	D|D	0.999928|0.999928	D|.	0.71674|.	0.998|.	D|.	0.77004|.	0.989|.	D|D	0.90326|0.90326	0.4348|0.4348	10|5	0.87932|.	D|.	0|.	.|.	15.4343|15.4343	0.75133|0.75133	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	230|.	P13647|.	K2C5_HUMAN|.	Q|R	230;195;120|31	ENSP00000252242:L230Q;ENSP00000447209:L120Q|.	ENSP00000252242:L230Q|.	L|W	-|-	2|1	0|0	KRT5|KRT5	51199078|51199078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.854000|0.854000	0.48673|0.48673	7.183000|7.183000	0.77697|0.77697	2.231000|2.231000	0.72958|0.72958	0.533000|0.533000	0.62120|0.62120	CTG|TGG		0.587	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			21	121	0	0	0	0.00278	0	21	121				
KRT72	140807	broad.mit.edu	37	12	52994868	52994868	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:52994868G>T	ENST00000537672.2	-	1	379	c.369C>A	c.(367-369)gcC>gcA	p.A123A	KRT72_ENST00000354310.4_Silent_p.A123A|KRT72_ENST00000398066.3_5'UTR|RP11-641A6.2_ENST00000551089.1_RNA|KRT72_ENST00000293745.2_Silent_p.A123A	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	123	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A123A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCCGCTCCTGGGCGCGCACCC	0.642																																							uc001sar.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(367-369)GCC>GCA		keratin 72 isoform 1							127.0	112.0	117.0					12																	52994868		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52994868G>T	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.369C>A	12.37:g.52994868G>T						KRT72_uc001saq.2_Silent_p.A123A|KRT72_uc010sns.1_Silent_p.A123A|KRT72_uc010snt.1_5'UTR	p.A123A	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	1	455	-			123			Head.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.369C>A	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998431	0.35226	.	.	ENSG00000170486	ENST00000549979	.	.	.	4.48	0.519	0.17035	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.46028	D	0.998825	.	.	.	.	.	.	T	0.21965	-1.0230	4	.	.	.	.	2.7148	0.05184	0.2117:0.2916:0.3874:0.1093	.	.	.	.	H	109	.	.	P	-	2	0	KRT72	51281135	0.000000	0.05858	0.480000	0.27341	0.981000	0.71138	-1.769000	0.01792	0.089000	0.17243	0.555000	0.69702	CCC		0.642	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		13	42	1	0	7.03913e-09	0.001368	1.06427e-08	13	42				
KRT79	338785	broad.mit.edu	37	12	53215770	53215770	+	Missense_Mutation	SNP	C	C	A	rs141269667		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:53215770C>A	ENST00000330553.5	-	9	1528	c.1494G>T	c.(1492-1494)aaG>aaT	p.K498N		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	498	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.K498N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAATCCACCCTTGGTGGCCC	0.622																																							uc001sbb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1492-1494)AAG>AAT		keratin 6L							60.0	49.0	53.0					12																	53215770		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53215770C>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1494G>T	12.37:g.53215770C>A	ENSP00000328358:p.Lys498Asn					KRT79_uc001sba.2_Missense_Mutation_p.K269N	p.K498N	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			9	1527	-			498			Tail.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1494G>T	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939529	0.34189	.	.	ENSG00000185640	ENST00000330553	D	0.87334	-2.24	4.21	-3.38	0.04883	.	0.133954	0.33610	N	0.004727	T	0.76090	0.3939	L	0.36672	1.1	0.09310	N	1	P	0.48162	0.906	B	0.43445	0.42	T	0.71056	-0.4703	10	0.35671	T	0.21	.	5.3399	0.15979	0.1452:0.3229:0.0:0.5318	.	498	Q5XKE5	K2C79_HUMAN	N	498	ENSP00000328358:K498N	ENSP00000328358:K498N	K	-	3	2	KRT79	51502037	0.272000	0.24172	0.005000	0.12908	0.057000	0.15508	-0.038000	0.12144	-0.767000	0.04633	0.655000	0.94253	AAG		0.622	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		12	28	1	0	4.36969e-10	0.001855	6.88557e-10	12	28				
NEUROD4	58158	broad.mit.edu	37	12	55421015	55421015	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:55421015C>G	ENST00000242994.3	+	2	1170	c.792C>G	c.(790-792)tcC>tcG	p.S264S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	264					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S264S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGAACTTCTCCTTGAAGCAAG	0.512																																							uc001sgp.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(790-792)TCC>TCG		neurogenic differentiation 4							129.0	124.0	126.0					12																	55421015		2203	4300	6503	SO:0001819	synonymous_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421015C>G	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.792C>G	12.37:g.55421015C>G							p.S264S	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	1170	+			264					B2RAC9	Silent	SNP	ENST00000242994.3	37	c.792C>G	CCDS8886.1																																																																																				0.512	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			22	89	0	0	0	0.002299	0	22	89				
NEUROD4	58158	broad.mit.edu	37	12	55421034	55421034	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:55421034C>A	ENST00000242994.3	+	2	1189	c.811C>A	c.(811-813)Cct>Act	p.P271T		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	271					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P271T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGATGGGTCTCCTGACCTAGA	0.532																																							uc001sgp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(811-813)CCT>ACT		neurogenic differentiation 4							157.0	151.0	153.0					12																	55421034		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421034C>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.811C>A	12.37:g.55421034C>A	ENSP00000242994:p.Pro271Thr						p.P271T	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	1189	+			271					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.811C>A	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265400	0.59431	.	.	ENSG00000123307	ENST00000242994	D	0.95724	-3.79	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.96402	0.8826	L	0.54323	1.7	0.58432	D	0.999998	D	0.67145	0.996	D	0.65987	0.94	D	0.95389	0.8480	10	0.46703	T	0.11	-11.168	13.604	0.62037	0.0:0.8446:0.1553:0.0	.	271	Q9HD90	NDF4_HUMAN	T	271	ENSP00000242994:P271T	ENSP00000242994:P271T	P	+	1	0	NEUROD4	53707301	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.242000	0.51384	2.941000	0.99782	0.655000	0.94253	CCT		0.532	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			25	100	1	0	2.41591e-17	0.004656	4.33198e-17	25	100				
PAN2	9924	broad.mit.edu	37	12	56713716	56713716	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:56713716T>A	ENST00000425394.2	-	21	3266	c.2890A>T	c.(2890-2892)Atg>Ttg	p.M964L	PAN2_ENST00000548043.1_Missense_Mutation_p.M964L|PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000257931.5_Missense_Mutation_p.M963L|PAN2_ENST00000440411.3_Missense_Mutation_p.M960L	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.M960L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TCATTCAGCATCAGTGGAATA	0.507																																							uc001skx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2890-2892)ATG>TTG		PAN2 polyA specific ribonuclease subunit homolog							155.0	126.0	136.0					12																	56713716		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56713716T>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2890A>T	12.37:g.56713716T>A	ENSP00000401721:p.Met964Leu					PAN2_uc001skw.2_Missense_Mutation_p.M112L|PAN2_uc001skz.2_Missense_Mutation_p.M963L|PAN2_uc001sky.2_Missense_Mutation_p.M960L	p.M964L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			21	3263	-			964						Missense_Mutation	SNP	ENST00000425394.2	37	c.2890A>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.944614	0.34283	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.66	5.66	0.87406	Ribonuclease H-like (1);	0.079974	0.85682	D	0.000000	T	0.20780	0.0500	L	0.54323	1.7	0.41900	D	0.990418	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.04005	-1.0985	10	0.28530	T	0.3	-23.9094	11.2356	0.48938	0.0:0.0:0.1531:0.8469	.	963;960;964	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	L	964;960;963;964	ENSP00000401721:M964L;ENSP00000388231:M960L;ENSP00000257931:M963L;ENSP00000449861:M964L	ENSP00000257931:M963L	M	-	1	0	PAN2	54999983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.255000	0.51484	2.291000	0.77112	0.533000	0.62120	ATG		0.507	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		10	33	0	0	0	0.000978	0	10	33				
LRP1	4035	broad.mit.edu	37	12	57569858	57569858	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:57569858G>T	ENST00000243077.3	+	24	4426	c.3960G>T	c.(3958-3960)aaG>aaT	p.K1320N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1320					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.K1320N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGAGGACAAGATCTACCGCG	0.657											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001snd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(3958-3960)AAG>AAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						126.0	89.0	102.0					12																	57569858		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57569858G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3960G>T	12.37:g.57569858G>T	ENSP00000243077:p.Lys1320Asn		OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024		p.K1320N	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	24	4426	+			1320			LDL-receptor class B 8.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3960G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299131	0.60195	.	.	ENSG00000123384	ENST00000243077	D	0.91464	-2.85	4.9	3.07	0.35406	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.95105	0.8414	M	0.92555	3.32	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.92879	0.6321	10	0.25751	T	0.34	.	8.3734	0.32430	0.2561:0.0:0.7439:0.0	.	1320	Q07954	LRP1_HUMAN	N	1320	ENSP00000243077:K1320N	ENSP00000243077:K1320N	K	+	3	2	LRP1	55856125	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.550000	0.36223	0.670000	0.31165	-0.140000	0.14226	AAG		0.657	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		10	42	1	0	3.86212e-05	0.008291	4.78167e-05	10	42				
R3HDM2	22864	broad.mit.edu	37	12	57663634	57663635	+	Missense_Mutation	DNP	CG	CG	GT			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:57663634_57663635CG>GT	ENST00000347140.3	-	15	1835_1836	c.1445_1446CG>AC	c.(1444-1446)aCG>aAC	p.T482N	R3HDM2_ENST00000358907.2_Missense_Mutation_p.T482N|R3HDM2_ENST00000441731.2_Missense_Mutation_p.T177N|R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000413953.2_Missense_Mutation_p.T209N|R3HDM2_ENST00000403821.2_Missense_Mutation_p.T516N|R3HDM2_ENST00000402412.1_Missense_Mutation_p.T496N|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	482	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T482T(2)|p.T143T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGGGCTGACCCGTGGAAGCCAT	0.574																																							uc009zpm.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)	2						c.(1444-1446)ACG>AAC		R3H domain containing 2																																				SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57663634_57663635CG>GT	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1445_1446delinsGT	12.37:g.57663634_57663635delinsGT	ENSP00000317903:p.Thr482Asn					R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.T177N|R3HDM2_uc001snr.2_Missense_Mutation_p.T209N|R3HDM2_uc001sns.2_Missense_Mutation_p.T482N|R3HDM2_uc001snt.2_Missense_Mutation_p.T496N|R3HDM2_uc009zpn.1_Missense_Mutation_p.T105N	p.T482N	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			13	1480_1481	-			482			Gln-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	DNP	ENST00000347140.3	37	c.1445_1446CG>AC	CCDS8937.2																																																																																				0.574	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		7	25	0	0	0	0.004672	0	7	25				
AVPR1A	552	broad.mit.edu	37	12	63543872	63543873	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:63543872_63543873CG>AA	ENST00000299178.2	-	1	849_850	c.744_745CG>TT	c.(742-747)cgCGgg>cgTTgg	p.G249W		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	249					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.G249W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCCGTCTTCCCGCGGACGTTGC	0.614																																							uc001sro.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(742-747)CGCGGG>CGTTGG		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)																																			SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543872_63543873CG>AA	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.744_745delinsAA	12.37:g.63543872_63543873delinsAA	ENSP00000299178:p.Gly249Trp						p.G249W	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2718_2719	-			249			Cytoplasmic (Potential).			Missense_Mutation	DNP	ENST00000299178.2	37	c.744_745CG>TT	CCDS8965.1																																																																																				0.614	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			17	93	0	0	0	0.004672	0	17	93				
DPY19L2	283417	broad.mit.edu	37	12	63976267	63976267	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:63976267G>T	ENST00000324472.4	-	18	1827	c.1644C>A	c.(1642-1644)gcC>gcA	p.A548A	DPY19L2_ENST00000413230.2_5'UTR	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	548					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A548A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGGCAAGGGCAGTAAACA	0.338																																							uc001srp.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1642-1644)GCC>GCA		dpy-19-like 2							68.0	62.0	64.0					12																	63976267		2203	4300	6503	SO:0001819	synonymous_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63976267G>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1644C>A	12.37:g.63976267G>T						DPY19L2_uc010sso.1_5'UTR	p.A548A	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	18	1825	-			548			Helical; (Potential).		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	c.1644C>A	CCDS31851.1																																																																																				0.338	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		8	22	1	0	0.00307968	0.00308	0.0033563	8	22				
BEST3	144453	broad.mit.edu	37	12	70072552	70072552	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:70072552G>A	ENST00000330891.5	-	5	829	c.603C>T	c.(601-603)atC>atT	p.I201I	BEST3_ENST00000488961.1_Silent_p.I39I|BEST3_ENST00000553096.1_Silent_p.I95I|BEST3_ENST00000476098.1_Silent_p.I39I|BEST3_ENST00000331471.4_Silent_p.I201I	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	201					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.I201I(1)|p.I39I(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CACTGTCTCTGATTCTACCTT	0.373																																							uc001svg.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(601-603)ATC>ATT		vitelliform macular dystrophy 2-like 3 isoform							129.0	120.0	123.0					12																	70072552		1895	4114	6009	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70072552G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.603C>T	12.37:g.70072552G>A						BEST3_uc001svd.1_Silent_p.I201I|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Silent_p.I39I|BEST3_uc010stm.1_Silent_p.I95I|BEST3_uc001svh.2_Silent_p.I39I	p.I201I	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		5	830	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		201			Extracellular (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.603C>T	CCDS8992.2																																																																																				0.373	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		19	49	0	0	0	0.002299	0	19	49				
PTPRB	5787	broad.mit.edu	37	12	70948995	70948995	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:70948995G>C	ENST00000261266.5	-	18	4463	c.4434C>G	c.(4432-4434)ttC>ttG	p.F1478L	PTPRB_ENST00000550857.1_Missense_Mutation_p.F1388L|PTPRB_ENST00000451516.2_Missense_Mutation_p.F1388L|PTPRB_ENST00000538708.1_Missense_Mutation_p.F1388L|PTPRB_ENST00000334414.6_Missense_Mutation_p.F1696L|PTPRB_ENST00000550358.1_Missense_Mutation_p.F1608L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1478	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.F1478L(2)|p.F1696L(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGGTGTCGCTGAACCAGCTGC	0.473																																							uc001swb.3		NA																	3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(4432-4434)TTC>TTG		protein tyrosine phosphatase, receptor type, B							91.0	88.0	89.0					12																	70948995		1951	4167	6118	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70948995G>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4434C>G	12.37:g.70948995G>C	ENSP00000261266:p.Phe1478Leu					PTPRB_uc010sto.1_Missense_Mutation_p.F1388L|PTPRB_uc010stp.1_Missense_Mutation_p.F1388L|PTPRB_uc001swc.3_Missense_Mutation_p.F1696L|PTPRB_uc001swa.3_Missense_Mutation_p.F1608L	p.F1478L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		18	4464	-	Renal(347;0.236)		1478			Fibronectin type-III 17.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4434C>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580000	0.86645	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.75154	3.52;3.65;3.53;-0.91;3.51;3.55	5.8	5.8	0.92144	Fibronectin, type III (3);	0.046961	0.85682	D	0.000000	T	0.78773	0.4336	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999	T	0.79892	-0.1611	10	0.87932	D	0	.	11.0517	0.47894	0.1117:0.0:0.8883:0.0	.	1388;1388;1696;1478;1608	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	L	1696;1388;1608;1388;1388;1478	ENSP00000334928:F1696L;ENSP00000393028:F1388L;ENSP00000448058:F1608L;ENSP00000438927:F1388L;ENSP00000447302:F1388L;ENSP00000261266:F1478L	ENSP00000261266:F1478L	F	-	3	2	PTPRB	69235262	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.485000	0.60279	2.739000	0.93911	0.467000	0.42956	TTC		0.473	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			9	29	0	0	0	0.006214	0	9	29				
RAB21	23011	broad.mit.edu	37	12	72179334	72179334	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:72179334G>C	ENST00000261263.3	+	7	815	c.559G>C	c.(559-561)Gat>Cat	p.D187H		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	187					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D187H(1)		large_intestine(1)|lung(4)|prostate(1)	6						AGCACAAGTGGATGAGAGAGC	0.428																																							uc001swt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GAT>CAT		RAB21, member RAS oncogene family							112.0	92.0	99.0					12																	72179334		2203	4300	6503	SO:0001583	missense	23011				protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:72179334G>C	AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.559G>C	12.37:g.72179334G>C	ENSP00000261263:p.Asp187His						p.D187H	NM_014999	NP_055814	Q9UL25	RAB21_HUMAN			7	811	+			187					Q14466|Q569H3	Missense_Mutation	SNP	ENST00000261263.3	37	c.559G>C	CCDS9003.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146653	0.77888	.	.	ENSG00000080371	ENST00000261263	T	0.68624	-0.34	5.76	5.76	0.90799	.	0.138857	0.64402	D	0.000004	T	0.60843	0.2300	N	0.14661	0.345	0.80722	D	1	B	0.30763	0.294	B	0.39738	0.308	T	0.62728	-0.6793	10	0.62326	D	0.03	-0.4938	19.9588	0.97233	0.0:0.0:1.0:0.0	.	187	Q9UL25	RAB21_HUMAN	H	187	ENSP00000261263:D187H	ENSP00000261263:D187H	D	+	1	0	RAB21	70465601	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.450000	0.97607	2.707000	0.92482	0.557000	0.71058	GAT		0.428	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1			4	23	0	0	0	0.009096	0	4	23				
TRHDE	29953	broad.mit.edu	37	12	73056937	73056937	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:73056937G>C	ENST00000261180.4	+	19	3133	c.3037G>C	c.(3037-3039)Gag>Cag	p.E1013Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1013					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1013Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACCAAGACGAGCTTTTCCA	0.393																																							uc001sxa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3037-3039)GAG>CAG		thyrotropin-releasing hormone degrading enzyme							51.0	53.0	53.0					12																	73056937		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056937G>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.3037G>C	12.37:g.73056937G>C	ENSP00000261180:p.Glu1013Gln						p.E1013Q	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			19	3067	+			1013			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.3037G>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313732	0.23908	.	.	ENSG00000072657	ENST00000261180	T	0.01313	5.02	5.59	5.59	0.84812	.	0.052265	0.85682	D	0.000000	T	0.01558	0.0050	N	0.19112	0.55	0.48236	D	0.999614	B	0.19073	0.033	B	0.12837	0.008	T	0.64183	-0.6467	10	0.12430	T	0.62	.	19.956	0.97218	0.0:0.0:1.0:0.0	.	1013	Q9UKU6	TRHDE_HUMAN	Q	1013	ENSP00000261180:E1013Q	ENSP00000261180:E1013Q	E	+	1	0	TRHDE	71343204	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.386000	0.73186	2.788000	0.95919	0.557000	0.71058	GAG		0.393	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		8	34	0	0	0	0.000978	0	8	34				
KCNC2	3747	broad.mit.edu	37	12	75444272	75444272	+	Missense_Mutation	SNP	A	A	T	rs199616283		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:75444272A>T	ENST00000549446.1	-	3	2193	c.1513T>A	c.(1513-1515)Tca>Aca	p.S505T	KCNC2_ENST00000550433.1_Missense_Mutation_p.S505T|KCNC2_ENST00000350228.2_Missense_Mutation_p.S505T|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.S505T|KCNC2_ENST00000548513.1_Missense_Mutation_p.S505T|KCNC2_ENST00000298972.1_Missense_Mutation_p.S505T|KCNC2_ENST00000393288.2_Missense_Mutation_p.S505T|KCNC2_ENST00000540018.1_Missense_Mutation_p.S505T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	505					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S505T(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AAAGTAGGTGAGCTTGCCTGA	0.423																																							uc001sxg.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1513-1515)TCA>ACA		Shaw-related voltage-gated potassium channel							154.0	144.0	148.0					12																	75444272		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444272A>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1513T>A	12.37:g.75444272A>T	ENSP00000449253:p.Ser505Thr					KCNC2_uc009zry.2_Missense_Mutation_p.S505T|KCNC2_uc001sxe.2_Missense_Mutation_p.S505T|KCNC2_uc001sxf.2_Missense_Mutation_p.S505T|KCNC2_uc010stw.1_Missense_Mutation_p.S505T	p.S505T	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	2057	-			505			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1513T>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204082	0.79127	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97710	-4.47;-4.5;-4.49;-4.47;-4.5;-4.38;-4.39;-4.49	6.06	6.06	0.98353	.	29.637800	0.00166	N	0.000000	D	0.98877	0.9620	M	0.68952	2.095	0.58432	D	0.999999	D;D;B;D;D	0.89917	0.997;0.999;0.427;1.0;0.985	D;D;P;D;P	0.91635	0.984;0.989;0.517;0.999;0.647	D	0.91298	0.5064	10	0.72032	D	0.01	.	16.6245	0.84952	1.0:0.0:0.0:0.0	.	505;505;505;505;505	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	T	505	ENSP00000448301:S505T;ENSP00000449941:S505T;ENSP00000449253:S505T;ENSP00000340121:S505T;ENSP00000298972:S505T;ENSP00000319877:S505T;ENSP00000438423:S505T;ENSP00000376966:S505T	ENSP00000298972:S505T	S	-	1	0	KCNC2	73730539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.323000	0.78572	0.528000	0.53228	TCA		0.423	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		22	82	0	0	0	0.002299	0	22	82				
NAV3	89795	broad.mit.edu	37	12	78515894	78515894	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:78515894C>A	ENST00000397909.2	+	16	4097	c.3924C>A	c.(3922-3924)agC>agA	p.S1308R	NAV3_ENST00000228327.6_Missense_Mutation_p.S1308R|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.S1308R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1308	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S1308R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCGGCAGCAGCAGCCCTCTCT	0.557										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3922-3924)AGC>AGA		neuron navigator 3							48.0	52.0	50.0					12																	78515894		2085	4212	6297	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515894C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3924C>A	12.37:g.78515894C>A	ENSP00000381007:p.Ser1308Arg	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S1308R|NAV3_uc010sub.1_Missense_Mutation_p.S808R|NAV3_uc009zsf.2_Intron	p.S1308R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	4097	+			1308			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3924C>A		.	.	.	.	.	.	.	.	.	.	C	16.27	3.075472	0.55646	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.28895	1.59;1.59;1.59	5.96	5.08	0.68730	.	0.000000	0.48286	U	0.000198	T	0.50956	0.1646	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.987;0.994;0.943	T	0.51593	-0.8686	10	0.54805	T	0.06	-17.1728	12.2203	0.54431	0.0:0.8637:0.0:0.1363	.	1308;1308;1308	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	R	1308	ENSP00000446132:S1308R;ENSP00000381007:S1308R;ENSP00000228327:S1308R	ENSP00000228327:S1308R	S	+	3	2	NAV3	77040025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.735000	0.55044	1.526000	0.49068	0.655000	0.94253	AGC		0.557	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	35	1	0	0.00307968	0.00308	0.0033563	6	35				
NAV3	89795	broad.mit.edu	37	12	78574729	78574729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:78574729C>A	ENST00000397909.2	+	30	5769	c.5596C>A	c.(5596-5598)Ccg>Acg	p.P1866T	NAV3_ENST00000228327.6_Missense_Mutation_p.P1844T|NAV3_ENST00000266692.7_Missense_Mutation_p.P1667T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1844T|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1866						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P1844T(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACTCGGCCACCGTCAGAATC	0.433										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(5596-5598)CCG>ACG		neuron navigator 3							107.0	109.0	108.0					12																	78574729		1991	4166	6157	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78574729C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5596C>A	12.37:g.78574729C>A	ENSP00000381007:p.Pro1866Thr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.P1844T|NAV3_uc010sub.1_Missense_Mutation_p.P1323T|NAV3_uc009zsf.2_Missense_Mutation_p.P675T	p.P1866T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			30	5769	+			1866					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5596C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.95|13.95	2.388994|2.388994	0.42308|0.42308	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29142|.	1.64;1.63;1.64;1.58;2.44|.	6.02|6.02	5.04|5.04	0.67666|0.67666	.|.	0.208186|.	0.23916|.	U|.	0.043294|.	T|T	0.43919|0.43919	0.1269|0.1269	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	B;B;P;B|.	0.41420|.	0.157;0.137;0.749;0.421|.	B;B;B;B|.	0.37601|.	0.097;0.075;0.242;0.254|.	T|T	0.33085|0.33085	-0.9882|-0.9882	10|5	0.52906|.	T|.	0.07|.	-15.4389|-15.4389	4.7321|4.7321	0.12970|0.12970	0.1931:0.611:0.0:0.1959|0.1931:0.611:0.0:0.1959	.|.	1844;1667;1866;1844|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	T|N	1844;1866;1844;1667;458;466|738	ENSP00000446132:P1844T;ENSP00000381007:P1866T;ENSP00000228327:P1844T;ENSP00000266692:P1667T;ENSP00000448303:P466T|.	ENSP00000228327:P1844T|.	P|T	+|+	1|2	0|0	NAV3|NAV3	77098860|77098860	0.703000|0.703000	0.27826|0.27826	0.222000|0.222000	0.23844|0.23844	0.954000|0.954000	0.61252|0.61252	1.685000|1.685000	0.37659|0.37659	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CCG|ACC		0.433	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	35	1	0	0.000274275	0.004482	0.000319476	8	35				
NAV3	89795	broad.mit.edu	37	12	78593237	78593237	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:78593237T>C	ENST00000397909.2	+	37	6814	c.6641T>C	c.(6640-6642)aTa>aCa	p.I2214T	NAV3_ENST00000228327.6_Missense_Mutation_p.I2192T|NAV3_ENST00000266692.7_Missense_Mutation_p.I2015T|NAV3_ENST00000536525.2_Missense_Mutation_p.I2192T|NAV3_ENST00000541270.1_Missense_Mutation_p.I44T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2214						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.I2192T(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTCAAAATTATAGATTGGATT	0.363										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6640-6642)ATA>ACA		neuron navigator 3							110.0	108.0	109.0					12																	78593237		1844	4095	5939	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593237T>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6641T>C	12.37:g.78593237T>C	ENSP00000381007:p.Ile2214Thr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.I2192T|NAV3_uc010sub.1_Missense_Mutation_p.I1671T|NAV3_uc009zsf.2_Missense_Mutation_p.I1023T	p.I2214T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			37	6814	+			2214					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6641T>C		.	.	.	.	.	.	.	.	.	.	T	25.0	4.587932	0.86851	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	T;T;T;T;T	0.53423	1.35;1.35;1.35;1.3;0.62	5.71	5.71	0.89125	.	0.000000	0.42821	U	0.000649	T	0.71126	0.3303	M	0.80183	2.485	0.80722	D	1	D;P;D;P	0.89917	1.0;0.557;0.997;0.763	D;B;D;B	0.91635	0.999;0.234;0.989;0.311	T	0.75488	-0.3300	10	0.87932	D	0	-16.0444	16.2826	0.82703	0.0:0.0:0.0:1.0	.	2192;2015;2214;2192	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	T	2192;2214;2192;2015;44	ENSP00000446132:I2192T;ENSP00000381007:I2214T;ENSP00000228327:I2192T;ENSP00000266692:I2015T;ENSP00000444918:I44T	ENSP00000228327:I2192T	I	+	2	0	NAV3	77117368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.307000	0.77673	0.528000	0.53228	ATA		0.363	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		13	47	0	0	0	0.00245	0	13	47				
ACSS3	79611	broad.mit.edu	37	12	81532992	81532992	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:81532992A>T	ENST00000548058.1	+	4	1638	c.728A>T	c.(727-729)aAa>aTa	p.K243I	ACSS3_ENST00000261206.3_Missense_Mutation_p.K242I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	243						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.K243I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAAGCGCTAAAAATAGGACAA	0.353																																							uc001szl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(727-729)AAA>ATA		acyl-CoA synthetase short-chain family member 3							129.0	115.0	120.0					12																	81532992		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81532992A>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.728A>T	12.37:g.81532992A>T	ENSP00000449535:p.Lys243Ile					ACSS3_uc001szm.1_Missense_Mutation_p.K242I	p.K243I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			4	819	+			243					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.728A>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538016	0.45176	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.46063	0.88;0.88	5.41	0.416	0.16416	AMP-dependent synthetase/ligase (1);	0.260277	0.44097	D	0.000497	T	0.35913	0.0948	M	0.67517	2.055	0.80722	D	1	B	0.20887	0.049	B	0.18871	0.023	T	0.17410	-1.0370	10	0.66056	D	0.02	-14.5235	6.3566	0.21404	0.5422:0.148:0.3099:0.0	.	243	Q9H6R3	ACSS3_HUMAN	I	243;242	ENSP00000449535:K243I;ENSP00000261206:K242I	ENSP00000261206:K242I	K	+	2	0	ACSS3	80057123	1.000000	0.71417	0.473000	0.27253	0.960000	0.62799	2.692000	0.47018	0.081000	0.16988	-0.468000	0.05107	AAA		0.353	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		12	52	0	0	0	0.000978	0	12	52				
PPFIA2	8499	broad.mit.edu	37	12	81741468	81741468	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:81741468G>T	ENST00000549396.1	-	18	2236	c.2076C>A	c.(2074-2076)ggC>ggA	p.G692G	PPFIA2_ENST00000549325.1_Silent_p.G674G|PPFIA2_ENST00000541570.2_Silent_p.G259G|PPFIA2_ENST00000548586.1_Silent_p.G692G|PPFIA2_ENST00000407050.4_Silent_p.G618G|PPFIA2_ENST00000443686.3_Silent_p.G593G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Silent_p.G692G|PPFIA2_ENST00000550359.2_Silent_p.G539G|PPFIA2_ENST00000333447.7_Silent_p.G674G|PPFIA2_ENST00000550584.2_Silent_p.G692G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	692					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.G692G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCAAATTCAGGCCTTCGAGGC	0.468																																							uc001szo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(2074-2076)GGC>GGA		PTPRF interacting protein alpha 2							106.0	115.0	112.0					12																	81741468		1962	4134	6096	SO:0001819	synonymous_variant	8499							g.chr12:81741468G>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2076C>A	12.37:g.81741468G>T						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.G692G	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			18	2237	-			618					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2076C>A	CCDS55857.1																																																																																				0.468	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			9	60	1	0	3.86212e-05	0.008291	4.78167e-05	9	60				
LRRIQ1	84125	broad.mit.edu	37	12	85518200	85518200	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:85518200G>T	ENST00000393217.2	+	17	3971	c.3910G>T	c.(3910-3912)Gca>Tca	p.A1304S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1304								p.A1304S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGACAGCAAGGCAAGCAGTAT	0.393																																							uc001tac.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3910-3912)GCA>TCA		leucine-rich repeats and IQ motif containing 1							169.0	183.0	178.0					12																	85518200		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85518200G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3910G>T	12.37:g.85518200G>T	ENSP00000376910:p.Ala1304Ser					LRRIQ1_uc001tab.1_Missense_Mutation_p.A1304S	p.A1304S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	4021	+			1304					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3910G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550800	0.45383	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.52526	0.66	5.33	-8.9	0.00782	.	2.260000	0.02052	N	0.050125	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B;B	0.21381	0.055;0.055	B;B	0.12837	0.008;0.008	T	0.08126	-1.0737	10	0.20046	T	0.44	.	3.1159	0.06375	0.4798:0.1906:0.2334:0.0962	.	1304;1279	Q96JM4;C9JI57	LRIQ1_HUMAN;.	S	1304;1279;1304	ENSP00000376910:A1304S	ENSP00000256007:A1304S	A	+	1	0	LRRIQ1	84042331	0.000000	0.05858	0.000000	0.03702	0.342000	0.28953	-1.382000	0.02546	-1.331000	0.02252	0.591000	0.81541	GCA		0.393	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		28	124	1	0	8.58068e-18	0.007291	1.55198e-17	28	124				
LRRIQ1	84125	broad.mit.edu	37	12	85546088	85546088	+	Missense_Mutation	SNP	G	G	T	rs201978322		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:85546088G>T	ENST00000393217.2	+	20	4421	c.4360G>T	c.(4360-4362)Gat>Tat	p.D1454Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1454								p.D1454Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCTAGCATTAGATTCCACCCG	0.378																																							uc001tac.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4360-4362)GAT>TAT		leucine-rich repeats and IQ motif containing 1							136.0	128.0	131.0					12																	85546088		1875	4102	5977	SO:0001583	missense	84125							g.chr12:85546088G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4360G>T	12.37:g.85546088G>T	ENSP00000376910:p.Asp1454Tyr						p.D1454Y	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	20	4471	+			1454					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4360G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295603	0.40594	.	.	ENSG00000133640	ENST00000393217	T	0.53423	0.62	5.26	5.26	0.73747	.	.	.	.	.	T	0.56202	0.1969	N	0.19112	0.55	0.35155	D	0.770139	D	0.89917	1.0	D	0.71184	0.972	T	0.68326	-0.5438	9	0.87932	D	0	.	18.857	0.92257	0.0:0.0:1.0:0.0	.	1454	Q96JM4	LRIQ1_HUMAN	Y	1454	ENSP00000376910:D1454Y	ENSP00000376910:D1454Y	D	+	1	0	LRRIQ1	84070219	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	4.515000	0.60489	2.475000	0.83589	0.591000	0.81541	GAT		0.378	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		13	65	1	0	1.3612e-06	0.003163	1.85225e-06	13	65				
CEP290	80184	broad.mit.edu	37	12	88465670	88465670	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:88465670C>A	ENST00000552810.1	-	42	6086	c.5743G>T	c.(5743-5745)Ggt>Tgt	p.G1915C	CEP290_ENST00000397838.3_Missense_Mutation_p.G975C|CEP290_ENST00000547691.2_Missense_Mutation_p.G975C|CEP290_ENST00000309041.7_Missense_Mutation_p.G1917C	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1915					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.G1917C(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CACTTTTTACCTTCTTCCCAC	0.318																																							uc001tar.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(5743-5745)GGT>TGT		centrosomal protein 290kDa							99.0	87.0	91.0					12																	88465670		1810	4069	5879	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88465670C>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5743G>T	12.37:g.88465670C>A	ENSP00000448012:p.Gly1915Cys					CEP290_uc001taq.2_Missense_Mutation_p.G975C	p.G1915C	NM_025114	NP_079390	O15078	CE290_HUMAN			42	6087	-			1915			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.5743G>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313155	0.60414	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.66460	0.45;-0.21;-0.21;0.45	5.34	5.34	0.76211	.	0.142496	0.64402	D	0.000005	T	0.76321	0.3971	M	0.62723	1.935	0.43913	D	0.99655	D	0.89917	1.0	D	0.70935	0.971	T	0.77233	-0.2663	10	0.56958	D	0.05	.	9.1767	0.37116	0.0:0.7964:0.0:0.2036	.	1915	O15078	CE290_HUMAN	C	975;1915;1917;975	ENSP00000446905:G975C;ENSP00000448012:G1915C;ENSP00000308021:G1917C;ENSP00000380938:G975C	ENSP00000308021:G1917C	G	-	1	0	CEP290	86989801	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.887000	0.28254	2.498000	0.84270	0.460000	0.39030	GGT		0.318	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		5	10	1	0	1.23904e-05	0.000602	1.57558e-05	5	10				
USP44	84101	broad.mit.edu	37	12	95914840	95914840	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:95914840C>A	ENST00000258499.3	-	5	2160	c.1872G>T	c.(1870-1872)gtG>gtT	p.V624V	USP44_ENST00000393091.2_Silent_p.V624V|USP44_ENST00000537435.2_Silent_p.V624V|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	624	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GGTGCATCACCACCGCGGACA	0.443																																							uc001teg.2		NA																	0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(1870-1872)GTG>GTT		ubiquitin thiolesterase 44							139.0	125.0	130.0					12																	95914840		2203	4300	6503	SO:0001819	synonymous_variant	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95914840C>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1872G>T	12.37:g.95914840C>A						USP44_uc001teh.2_Silent_p.V624V|USP44_uc009zte.2_Silent_p.V621V	p.V624V	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN			5	2016	-			624					B2RDW3	Silent	SNP	ENST00000258499.3	37	c.1872G>T	CCDS9053.1																																																																																				0.443	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		11	64	1	0	1.58986e-06	0.008291	2.14735e-06	11	64				
SLC25A3	5250	broad.mit.edu	37	12	98987861	98987861	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:98987861G>A	ENST00000228318.3	+	2	225	c.105G>A	c.(103-105)ggG>ggA	p.G35G	SLC25A3_ENST00000552981.1_Silent_p.G35G|SLC25A3_ENST00000551917.1_Silent_p.G35G|SLC25A3_ENST00000547534.1_Silent_p.G35G|SLC25A3_ENST00000548847.1_Silent_p.G35G|SLC25A3_ENST00000551265.1_Silent_p.G35G|SLC25A3_ENST00000401722.3_Silent_p.G35G|SLC25A3_ENST00000188376.5_Silent_p.G35G|SLC25A3_ENST00000549338.1_Silent_p.G35G	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	35					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.G35G(3)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GCTCCCCAGGGCCCACGGGCC	0.692																																							uc001tfo.2		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(103-105)GGG>GGA		solute carrier family 25 member 3 isoform a							16.0	16.0	16.0					12																	98987861		2201	4296	6497	SO:0001819	synonymous_variant	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98987861G>A		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.105G>A	12.37:g.98987861G>A						SLC25A3_uc001tfm.2_Silent_p.G35G|SLC25A3_uc001tfn.2_Silent_p.G35G|SLC25A3_uc001tfp.2_Silent_p.G35G|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Silent_p.G35G|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Silent_p.G35G|SLC25A3_uc001tft.2_Silent_p.G35G	p.G35G	NM_005888	NP_005879	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	2	225	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	35					B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	c.105G>A	CCDS9066.1																																																																																				0.692	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		3	15	0	0	0	0.009096	0	3	15				
SLC5A8	160728	broad.mit.edu	37	12	101587480	101587480	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:101587480T>C	ENST00000536262.2	-	5	1173	c.615A>G	c.(613-615)atA>atG	p.I205M		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.I205M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCACAGCCTGTATAATCACGG	0.408																																					GBM(60;420 1056 13605 22380 47675)	GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(613-615)ATA>ATG		solute carrier family 5 (iodide transporter),							170.0	157.0	161.0					12																	101587480		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101587480T>C	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.615A>G	12.37:g.101587480T>C	ENSP00000445340:p.Ile205Met						p.I205M	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			5	1005	-			205			Helical; (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.615A>G	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065914	0.55539	.	.	ENSG00000256870	ENST00000536262	D	0.89810	-2.57	5.44	4.26	0.50523	.	0.042775	0.85682	D	0.000000	D	0.95271	0.8466	M	0.92833	3.35	0.50039	D	0.999849	D	0.89917	1.0	D	0.80764	0.994	D	0.95371	0.8464	10	0.87932	D	0	.	12.4017	0.55416	0.0:0.0:0.1408:0.8592	.	205	Q8N695	SC5A8_HUMAN	M	205	ENSP00000445340:I205M	ENSP00000445340:I205M	I	-	3	3	SLC5A8	100111611	1.000000	0.71417	0.997000	0.53966	0.602000	0.36980	3.148000	0.50647	0.862000	0.35528	0.533000	0.62120	ATA		0.408	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		20	83	0	0	0	0.010504	0	20	83				
MYBPC1	4604	broad.mit.edu	37	12	102067343	102067343	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:102067343C>A	ENST00000550270.1	+	24	2731	c.2731C>A	c.(2731-2733)Ctg>Atg	p.L911M	MYBPC1_ENST00000551300.1_Missense_Mutation_p.L794M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L880M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L881M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L918M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L879M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L911M|MYBPC1_ENST00000549145.1_Missense_Mutation_p.L924M|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L893M|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L893M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L874M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L911M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L911M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L918M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L867M			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	911	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L911M(1)|p.L918M(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAAATATGATCTGCAAGTCAA	0.388																																							uc001tii.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(2731-2733)CTG>ATG		myosin binding protein C, slow type isoform 3							173.0	180.0	178.0					12																	102067343		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102067343C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2731C>A	12.37:g.102067343C>A	ENSP00000449702:p.Leu911Met					MYBPC1_uc001tig.2_Missense_Mutation_p.L918M|MYBPC1_uc010svq.1_Missense_Mutation_p.L880M|MYBPC1_uc001tih.2_Missense_Mutation_p.L918M|MYBPC1_uc001tij.2_Missense_Mutation_p.L893M|MYBPC1_uc010svr.1_Missense_Mutation_p.L893M|MYBPC1_uc010svs.1_Missense_Mutation_p.L911M|MYBPC1_uc010svt.1_Missense_Mutation_p.L881M|MYBPC1_uc010svu.1_Missense_Mutation_p.L874M|MYBPC1_uc001tik.2_Missense_Mutation_p.L867M|MYBPC1_uc001til.2_Translation_Start_Site|MYBPC1_uc001tim.2_Translation_Start_Site	p.L911M	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			24	2833	+			911			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2731C>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285886	0.23478	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.75	4.86	0.63082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.169640	0.27876	N	0.017500	T	0.45135	0.1327	L	0.45470	1.425	0.42288	D	0.99212	B;B;B;B;B;B;B;B;B;B	0.31435	0.323;0.117;0.077;0.07;0.032;0.07;0.055;0.067;0.056;0.123	P;B;B;B;B;B;B;B;B;B	0.46543	0.52;0.341;0.353;0.178;0.147;0.128;0.231;0.406;0.174;0.24	T	0.46442	-0.9191	10	0.40728	T	0.16	.	6.0344	0.19699	0.1902:0.655:0.0:0.1547	.	874;881;911;893;880;867;893;911;918;918	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	M	867;911;911;911;880;879;918;924;893;893;874;881;918;794;911	ENSP00000448175:L867M;ENSP00000400908:L911M;ENSP00000388989:L911M;ENSP00000353822:L911M;ENSP00000376665:L880M;ENSP00000447362:L879M;ENSP00000354845:L918M;ENSP00000447660:L924M;ENSP00000447900:L893M;ENSP00000440034:L893M;ENSP00000446128:L874M;ENSP00000442847:L881M;ENSP00000354849:L918M;ENSP00000447116:L794M;ENSP00000449702:L911M	ENSP00000353822:L911M	L	+	1	2	MYBPC1	100591474	0.817000	0.29147	0.179000	0.23059	0.343000	0.28985	1.430000	0.34914	1.430000	0.47334	-0.300000	0.09419	CTG		0.388	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			26	124	1	0	4.59853e-10	0.005443	7.23833e-10	26	124				
MYBPC1	4604	broad.mit.edu	37	12	102071040	102071040	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:102071040C>A	ENST00000550270.1	+	26	2956	c.2956C>A	c.(2956-2958)Cat>Aat	p.H986N	MYBPC1_ENST00000551300.1_Missense_Mutation_p.H869N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.H955N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.H956N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.H993N|MYBPC1_ENST00000547509.1_Missense_Mutation_p.H954N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.H986N|MYBPC1_ENST00000549145.1_Missense_Mutation_p.H999N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.H968N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.H968N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.H949N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.H986N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.H986N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.H993N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.H942N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	986	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.			YHRTSATI -> IIEPVPH (in Ref. 1; CAA46987). {ECO:0000305}.	cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.H986N(1)|p.H993N(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGAGCATTATCATCGAACCAG	0.368																																							uc001tii.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(2956-2958)CAT>AAT		myosin binding protein C, slow type isoform 3							123.0	114.0	117.0					12																	102071040		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102071040C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2956C>A	12.37:g.102071040C>A	ENSP00000449702:p.His986Asn					MYBPC1_uc001tig.2_Missense_Mutation_p.H993N|MYBPC1_uc010svq.1_Missense_Mutation_p.H955N|MYBPC1_uc001tih.2_Missense_Mutation_p.H993N|MYBPC1_uc001tij.2_Missense_Mutation_p.H968N|MYBPC1_uc010svr.1_Missense_Mutation_p.H968N|MYBPC1_uc010svs.1_Missense_Mutation_p.H986N|MYBPC1_uc010svt.1_Missense_Mutation_p.H956N|MYBPC1_uc010svu.1_Missense_Mutation_p.H949N|MYBPC1_uc001tik.2_Missense_Mutation_p.H942N|MYBPC1_uc001til.2_Missense_Mutation_p.H11N|MYBPC1_uc001tim.2_Missense_Mutation_p.H11N	p.H986N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			26	3058	+			986	YHRTSATI -> IIEPVPH (in Ref. 1; CAA46987).		Fibronectin type-III 3.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2956C>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739551	0.69304	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000059	T	0.64757	0.2627	L	0.29908	0.895	0.80722	D	1	B;D;P;D;D;P;D;D;B;P	0.63880	0.043;0.993;0.643;0.963;0.973;0.779;0.976;0.965;0.084;0.954	P;D;P;D;D;P;D;D;B;D	0.87578	0.519;0.998;0.875;0.986;0.992;0.666;0.994;0.998;0.333;0.953	T	0.67405	-0.5679	10	0.72032	D	0.01	.	19.4985	0.95083	0.0:1.0:0.0:0.0	.	949;956;986;968;955;942;968;986;993;993	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	N	942;986;986;986;955;954;993;999;968;968;949;956;993;869;986	ENSP00000448175:H942N;ENSP00000400908:H986N;ENSP00000388989:H986N;ENSP00000353822:H986N;ENSP00000376665:H955N;ENSP00000447362:H954N;ENSP00000354845:H993N;ENSP00000447660:H999N;ENSP00000447900:H968N;ENSP00000440034:H968N;ENSP00000446128:H949N;ENSP00000442847:H956N;ENSP00000354849:H993N;ENSP00000447116:H869N;ENSP00000449702:H986N	ENSP00000353822:H986N	H	+	1	0	MYBPC1	100595171	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.736000	0.68597	2.602000	0.87976	0.655000	0.94253	CAT		0.368	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			13	63	1	0	2.68362e-12	0.001368	4.45536e-12	13	63				
STAB2	55576	broad.mit.edu	37	12	104136306	104136306	+	Missense_Mutation	SNP	C	C	A	rs367681128		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:104136306C>A	ENST00000388887.2	+	56	6209	c.6005C>A	c.(6004-6006)cCg>cAg	p.P2002Q		NM_017564.9	NP_060034.9			stabilin 2									p.P2002Q(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGTGCTGGCCGGGGAGATTC	0.562																																							uc001tjw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(6004-6006)CCG>CAG		stabilin 2 precursor							191.0	173.0	179.0					12																	104136306		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104136306C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6005C>A	12.37:g.104136306C>A	ENSP00000373539:p.Pro2002Gln					STAB2_uc009zug.2_RNA	p.P2002Q	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			56	6191	+			2002			Extracellular (Potential).|Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6005C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847534	0.51164	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.82526	-1.62	4.9	4.0	0.46444	EGF-like, laminin (1);	0.240618	0.33253	N	0.005101	D	0.91257	0.7244	M	0.90870	3.155	0.09310	N	0.999996	D	0.67145	0.996	D	0.63381	0.914	D	0.85168	0.0996	10	0.27785	T	0.31	.	14.6962	0.69124	0.1458:0.8542:0.0:0.0	.	2002	Q8WWQ8	STAB2_HUMAN	Q	2002;689	ENSP00000373539:P2002Q	ENSP00000258495:P689Q	P	+	2	0	STAB2	102660436	0.955000	0.32602	0.226000	0.23910	0.810000	0.45777	2.186000	0.42593	0.998000	0.38996	0.563000	0.77884	CCG		0.562	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			21	76	1	0	1.85244e-09	0.00333	2.87237e-09	21	76				
POLR3B	55703	broad.mit.edu	37	12	106760300	106760300	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:106760300G>T	ENST00000228347.4	+	3	334	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C	POLR3B_ENST00000539066.1_5'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	38					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.G38C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTAGGTGAAAGGCCTTGTGAA	0.308																																							uc001tlp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(112-114)GGC>TGC		DNA-directed RNA polymerase III B isoform 1							128.0	127.0	127.0					12																	106760300		2203	4299	6502	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106760300G>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.112G>T	12.37:g.106760300G>T	ENSP00000228347:p.Gly38Cys					POLR3B_uc001tlq.2_Translation_Start_Site	p.G38C	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			3	334	+			38					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.112G>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209644	0.79240	.	.	ENSG00000013503	ENST00000228347;ENST00000551370	T	0.68903	-0.36	5.28	5.28	0.74379	RNA polymerase, beta subunit, protrusion (1);	0.048697	0.85682	D	0.000000	D	0.86965	0.6060	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90381	0.4388	10	0.87932	D	0	-6.0961	12.2911	0.54819	0.0781:0.0:0.9219:0.0	.	38	Q9NW08	RPC2_HUMAN	C	38	ENSP00000228347:G38C	ENSP00000228347:G38C	G	+	1	0	POLR3B	105284430	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.920000	0.87521	2.468000	0.83385	0.650000	0.86243	GGC		0.308	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		4	16	1	0	0.000602214	0.000602	0.000682885	4	16				
POLR3B	55703	broad.mit.edu	37	12	106895214	106895214	+	Splice_Site	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:106895214G>C	ENST00000228347.4	+	26	3320	c.3098G>C	c.(3097-3099)aGg>aCg	p.R1033T	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Splice_Site_p.R975T	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1033					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R1033T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTCCTTACCAGGTAAGAGAAA	0.438																																							uc001tlp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3097-3099)AGG>ACG		DNA-directed RNA polymerase III B isoform 1							34.0	39.0	37.0					12																	106895214		2203	4300	6503	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106895214G>C	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3098+1G>C	12.37:g.106895214G>C						POLR3B_uc001tlq.2_Missense_Mutation_p.R975T	p.R1033T	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			26	3320	+			1033					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.3098G>C	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213658	0.95069	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.79940	-1.32;-1.32	5.5	5.5	0.81552	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96640	0.9473	10	0.87932	D	0	-21.959	19.4046	0.94643	0.0:0.0:1.0:0.0	.	1033	Q9NW08	RPC2_HUMAN	T	1033;975	ENSP00000228347:R1033T;ENSP00000445721:R975T	ENSP00000228347:R1033T	R	+	2	0	POLR3B	105419344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.823000	0.99369	2.566000	0.86566	0.655000	0.94253	AGG		0.438	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Missense_Mutation	6	20	0	0	0	0.001168	0	6	20				
BTBD11	121551	broad.mit.edu	37	12	108012033	108012033	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:108012033C>G	ENST00000280758.5	+	10	2858	c.2330C>G	c.(2329-2331)aCa>aGa	p.T777R	BTBD11_ENST00000357167.4_Missense_Mutation_p.T314R|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.T777R|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	777						integral component of membrane (GO:0016021)		p.T777R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTGGCGGAGACAGCCCCGCCC	0.617																																							uc001tmk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2329-2331)ACA>AGA		BTB (POZ) domain containing 11 isoform a							52.0	51.0	51.0					12																	108012033		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108012033C>G	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2330C>G	12.37:g.108012033C>G	ENSP00000280758:p.Thr777Arg					BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.T777R|BTBD11_uc001tml.1_Missense_Mutation_p.T314R	p.T777R	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			10	2851	+			777					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2330C>G	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235853	0.22626	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.39997	1.3;1.33;1.05	4.88	4.88	0.63580	.	0.195346	0.53938	D	0.000060	T	0.20007	0.0481	N	0.02721	-0.515	0.80722	D	1	B;B;B	0.18610	0.0;0.013;0.029	B;B;B	0.17722	0.0;0.002;0.019	T	0.10965	-1.0607	10	0.13853	T	0.58	.	14.8548	0.70329	0.0:0.8558:0.1442:0.0	.	314;777;777	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	R	777;777;314	ENSP00000280758:T777R;ENSP00000447319:T777R;ENSP00000349690:T314R	ENSP00000280758:T777R	T	+	2	0	BTBD11	106536163	0.487000	0.25988	1.000000	0.80357	0.976000	0.68499	1.148000	0.31614	2.406000	0.81754	0.563000	0.77884	ACA		0.617	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		5	21	0	0	0	0.001168	0	5	21				
PRDM4	11108	broad.mit.edu	37	12	108145650	108145650	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:108145650G>A	ENST00000228437.5	-	5	1127	c.668C>T	c.(667-669)tCc>tTc	p.S223F	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	223					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)	p.S223F(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGGGATTTGGGAATGCTCGCC	0.507																																							uc001tmp.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(667-669)TCC>TTC		PR domain containing 4							134.0	115.0	122.0					12																	108145650		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108145650G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.668C>T	12.37:g.108145650G>A	ENSP00000228437:p.Ser223Phe					PRDM4_uc001tmq.2_RNA	p.S223F	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN			5	1105	-			223					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.668C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214016	0.58452	.	.	ENSG00000110851	ENST00000228437	T	0.10573	2.86	5.93	5.93	0.95920	.	0.527210	0.22801	N	0.055467	T	0.08714	0.0216	N	0.14661	0.345	0.32950	D	0.519659	B	0.02656	0.0	B	0.04013	0.001	T	0.06991	-1.0796	10	0.72032	D	0.01	.	15.7776	0.78236	0.0:0.1355:0.8645:0.0	.	223	Q9UKN5	PRDM4_HUMAN	F	223	ENSP00000228437:S223F	ENSP00000228437:S223F	S	-	2	0	PRDM4	106669780	0.543000	0.26434	0.978000	0.43139	0.994000	0.84299	3.852000	0.55934	2.805000	0.96524	0.655000	0.94253	TCC		0.507	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		6	38	0	0	0	0.001168	0	6	38				
SART3	9733	broad.mit.edu	37	12	108936916	108936916	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:108936916G>T	ENST00000228284.3	-	6	1028	c.794C>A	c.(793-795)aCa>aAa	p.T265K	SART3_ENST00000431469.2_Missense_Mutation_p.T265K|SART3_ENST00000552221.1_5'Flank	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	265					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T265K(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCTGCAAATGTGGCCTCCAT	0.438									Porokeratosis																														uc001tmz.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(793-795)ACA>AAA		squamous cell carcinoma antigen recognized by T							174.0	161.0	165.0					12																	108936916		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108936916G>T	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.794C>A	12.37:g.108936916G>T	ENSP00000228284:p.Thr265Lys					SART3_uc001tmy.1_5'Flank|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.T265K|SART3_uc010swy.1_Missense_Mutation_p.T151K|SART3_uc010swz.1_Missense_Mutation_p.T265K|SART3_uc001tna.1_RNA	p.T265K	NM_014706	NP_055521	Q15020	SART3_HUMAN			6	1029	-			265			HAT 4.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.794C>A	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298611	0.95574	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815;ENST00000550322	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.61	5.61	0.85477	.	0.048110	0.85682	D	0.000000	T	0.67353	0.2884	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.71674	0.998;0.995;0.995;0.995	D;D;P;P	0.74023	0.982;0.911;0.804;0.804	T	0.72855	-0.4166	10	0.87932	D	0	-23.6488	19.6328	0.95718	0.0:0.0:1.0:0.0	.	213;283;265;265	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	K	265;265;213;283;133	ENSP00000228284:T265K;ENSP00000414453:T265K;ENSP00000449386:T283K;ENSP00000447324:T133K	ENSP00000228284:T265K	T	-	2	0	SART3	107461046	1.000000	0.71417	0.959000	0.39883	0.986000	0.74619	9.471000	0.97696	2.631000	0.89168	0.650000	0.86243	ACA		0.438	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			9	44	1	0	0.000673444	0.008291	0.000757755	9	44				
FOXN4	121643	broad.mit.edu	37	12	109723261	109723261	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:109723261C>A	ENST00000299162.5	-	8	853	c.749G>T	c.(748-750)tGc>tTc	p.C250F	FOXN4_ENST00000355216.1_Missense_Mutation_p.C70F	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	250					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C70F(1)|p.C250F(1)		large_intestine(5)|lung(9)|ovary(2)	16						CTTCTCGAAGCACTTGTTCAG	0.597																																							uc001toe.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(748-750)TGC>TTC		forkhead box N4							103.0	94.0	97.0					12																	109723261		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109723261C>A	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.749G>T	12.37:g.109723261C>A	ENSP00000299162:p.Cys250Phe					FOXN4_uc009zvg.2_Missense_Mutation_p.C47F|FOXN4_uc001tof.3_Missense_Mutation_p.C70F	p.C250F	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			8	854	-			250			Fork-head.		Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.749G>T	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168849	0.78339	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95788	-3.81;-3.81	4.61	4.61	0.57282	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.983;1.0	D	0.99421	1.0933	10	0.87932	D	0	-9.791	16.8147	0.85730	0.0:1.0:0.0:0.0	.	250;250	A6H901;Q96NZ1	.;FOXN4_HUMAN	F	70;250	ENSP00000347354:C70F;ENSP00000299162:C250F	ENSP00000299162:C250F	C	-	2	0	FOXN4	108207644	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.055000	0.71103	2.282000	0.76494	0.484000	0.47621	TGC		0.597	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		5	30	1	0	8.12818e-05	0.001984	9.82943e-05	5	30				
HECTD4	283450	broad.mit.edu	37	12	112654893	112654893	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:112654893C>A	ENST00000430131.2	-	45	7060	c.5915G>T	c.(5914-5916)gGg>gTg	p.G1972V	HECTD4_ENST00000377560.5_Missense_Mutation_p.G2222V|HECTD4_ENST00000550722.1_Missense_Mutation_p.G2248V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1972					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G2222V(1)|p.G1972V(1)									CAGGCCTCCCCCAGCGCTGGG	0.547																																							uc009zwc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(5914-5916)GGG>GTG		chromosome 12 open reading frame 51							24.0	26.0	26.0					12																	112654893		1916	4129	6045	SO:0001583	missense	283450							g.chr12:112654893C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5915G>T	12.37:g.112654893C>A	ENSP00000404379:p.Gly1972Val					C12orf51_uc001ttr.1_Missense_Mutation_p.G147V	p.G1972V	NM_001109662	NP_001103132					39	5933	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5915G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.935293|4.935293	0.92458|0.92458	.|.	.|.	ENSG00000173064|ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722|ENST00000550968	T;T;T|.	0.55588|.	0.51;0.52;0.51|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|.	.|.	.|.	.|.	T|T	0.56630|0.56630	0.1998|0.1998	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|.	0.51240|.	0.943|.	P|.	0.46585|.	0.521|.	T|T	0.62011|0.62011	-0.6944|-0.6944	9|6	0.87932|0.87932	D|D	0|0	.|.	20.0833|20.0833	0.97789|0.97789	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1972|.	Q9Y4D8|.	K0614_HUMAN|.	V|W	2222;1972;2248|139	ENSP00000366783:G2222V;ENSP00000404379:G1972V;ENSP00000449784:G2248V|.	ENSP00000366783:G2222V|ENSP00000449652:G139W	G|G	-|-	2|1	0|0	C12orf51|C12orf51	111139276|111139276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.277000|7.277000	0.78572|0.78572	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.547	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		3	18	1	0	0.004672	0.004672	0.00503511	3	18				
RPH3A	22895	broad.mit.edu	37	12	113314541	113314541	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:113314541C>G	ENST00000389385.4	+	13	1538	c.1041C>G	c.(1039-1041)gaC>gaG	p.D347E	RPH3A_ENST00000548866.1_Missense_Mutation_p.D298E|RPH3A_ENST00000420983.2_Missense_Mutation_p.D347E|RPH3A_ENST00000447659.2_Missense_Mutation_p.D298E|RPH3A_ENST00000415485.3_Missense_Mutation_p.D347E|RPH3A_ENST00000551052.1_Missense_Mutation_p.D343E|RPH3A_ENST00000543106.2_Missense_Mutation_p.D347E|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	347	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.D343E(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCAGAGAGGACCGAATGAGCC	0.682																																							uc010syl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1039-1041)GAC>GAG		rabphilin 3A homolog isoform 1							55.0	51.0	53.0					12																	113314541		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113314541C>G	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1041C>G	12.37:g.113314541C>G	ENSP00000374036:p.Asp347Glu					RPH3A_uc001ttz.2_Missense_Mutation_p.D347E|RPH3A_uc001tty.2_Missense_Mutation_p.D343E|RPH3A_uc009zwe.1_Missense_Mutation_p.D343E|RPH3A_uc010sym.1_Missense_Mutation_p.D298E|RPH3A_uc001tua.2_Missense_Mutation_p.D107E	p.D347E	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	13	1403	+			347			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1041C>G	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	6.596	0.478395	0.12521	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.36	-0.801	0.10893	.	0.440276	0.20243	N	0.096251	T	0.27027	0.0662	N	0.16130	0.375	0.27978	N	0.936147	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.003	T	0.14309	-1.0477	10	0.07325	T	0.83	.	3.0619	0.06201	0.1609:0.2273:0.4752:0.1366	.	298;347;347;343	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	E	347;347;298;343;347;298;347	ENSP00000440384:D347E;ENSP00000374036:D347E;ENSP00000413254:D298E;ENSP00000448297:D343E;ENSP00000405357:D347E;ENSP00000450347:D298E;ENSP00000408889:D347E	ENSP00000374036:D347E	D	+	3	2	RPH3A	111798924	0.998000	0.40836	0.811000	0.32455	0.052000	0.14988	0.252000	0.18278	0.175000	0.19841	0.511000	0.50034	GAC		0.682	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		6	41	0	0	0	0.001168	0	6	41				
OAS3	4940	broad.mit.edu	37	12	113400594	113400594	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:113400594G>T	ENST00000228928.7	+	9	2150	c.1971G>T	c.(1969-1971)acG>acT	p.T657T	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	657	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.T657T(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCTTCCGGACGGTGCTGGGGC	0.597																																							uc001tug.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1969-1971)ACG>ACT		2'-5'oligoadenylate synthetase 3							119.0	128.0	125.0					12																	113400594		2049	4210	6259	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113400594G>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1971G>T	12.37:g.113400594G>T							p.T657T	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			9	2058	+			657			OAS domain 2.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.1971G>T	CCDS44981.1																																																																																				0.597	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			17	78	1	0	3.6726e-16	0.003954	6.52111e-16	17	78				
TAOK3	51347	broad.mit.edu	37	12	118598074	118598074	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:118598074T>C	ENST00000392533.3	-	19	2719	c.2229A>G	c.(2227-2229)gaA>gaG	p.E743E	TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000419821.2_Silent_p.E743E|TAOK3_ENST00000537952.1_Silent_p.E283E	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	743					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.E743E(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGAGTAACTTCCAACTGGT	0.378																																							uc001twx.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|central_nervous_system(1)	6						c.(2227-2229)GAA>GAG		TAO kinase 3							293.0	260.0	271.0					12																	118598074		2203	4300	6503	SO:0001819	synonymous_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118598074T>C	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2229A>G	12.37:g.118598074T>C						TAOK3_uc001twv.2_Silent_p.E283E|TAOK3_uc001tww.2_Silent_p.E573E|TAOK3_uc001twy.3_Silent_p.E743E	p.E743E	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			19	2524	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		743					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	c.2229A>G	CCDS9188.1																																																																																				0.378	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		25	120	0	0	0	0.004656	0	25	120				
P2RX4	5025	broad.mit.edu	37	12	121660769	121660769	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:121660769C>T	ENST00000337233.4	+	5	755	c.447C>T	c.(445-447)tgC>tgT	p.C149C	P2RX4_ENST00000543171.1_Silent_p.C48C|P2RX4_ENST00000359949.7_Silent_p.C165C|P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000541532.1_Intron	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	149					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.C149C(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGGCAGGTGCGTAGCTTTCA	0.582																																							uc001tzr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)TGC>TGT		purinergic receptor P2X4							134.0	98.0	111.0					12																	121660769		2203	4300	6503	SO:0001819	synonymous_variant	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121660769C>T	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.447C>T	12.37:g.121660769C>T						P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Intron|P2RX4_uc001tzs.2_Silent_p.C165C|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Silent_p.C48C	p.C149C	NM_002560	NP_002551	Q99571	P2RX4_HUMAN			5	751	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		149			Extracellular (Potential).		E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	37	c.447C>T	CCDS9214.1																																																																																				0.582	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		4	21	0	0	0	0.009096	0	4	21				
VPS33A	65082	broad.mit.edu	37	12	122723133	122723133	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:122723133C>A	ENST00000267199.4	-	10	1415		c.e10+1		RP11-512M8.5_ENST00000535844.1_Splice_Site	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)						lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)		p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		aatataCTCACCTGGAGAATC	0.398																																							uc001ucd.2		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e10+1		vacuolar protein sorting 33A							76.0	78.0	77.0					12																	122723133		2203	4300	6503	SO:0001630	splice_region_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122723133C>A	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1302+1G>T	12.37:g.122723133C>A						VPS33A_uc001ucc.2_Splice_Site	p.Q434_splice	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	10	1415	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)							Q547V4|Q9H5Q0	Splice_Site	SNP	ENST00000267199.4	37	c.1302_splice	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378223	0.61735	.	.	ENSG00000139719	ENST00000267199	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7348	0.91750	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS33A	121289086	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	7.652000	0.83633	2.423000	0.82170	0.557000	0.71058	.		0.398	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2		Intron	9	64	1	0	5.4927e-09	0.004482	8.34799e-09	9	64				
RSRC2	65117	broad.mit.edu	37	12	122991382	122991382	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:122991382T>A	ENST00000331738.7	-	9	1269	c.1124A>T	c.(1123-1125)aAg>aTg	p.K375M	RSRC2_ENST00000354654.2_Splice_Site_p.K327M|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	375							poly(A) RNA binding (GO:0044822)	p.K375M(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GAAACTCACCTTAATACCCAT	0.383																																							uc001ucr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1123-1125)AAG>ATG		arginine/serine-rich coiled-coil 2 isoform a							199.0	191.0	194.0					12																	122991382		2203	4300	6503	SO:0001630	splice_region_variant	65117							g.chr12:122991382T>A	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1125+1A>T	12.37:g.122991382T>A						RSRC2_uc001uco.2_Missense_Mutation_p.K144M|RSRC2_uc001ucp.2_Missense_Mutation_p.K316M|RSRC2_uc001ucq.2_Missense_Mutation_p.K143M|RSRC2_uc001ucs.2_Missense_Mutation_p.K144M|RSRC2_uc001uct.2_Missense_Mutation_p.K327M|RSRC2_uc001ucu.2_Missense_Mutation_p.K376M	p.K375M	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	9	1270	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		375					Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.1124A>T	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863662	0.91511	.	.	ENSG00000111011	ENST00000331738;ENST00000354654	T;T	0.61980	0.06;0.1	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.987;0.997;0.993	T	0.80259	-0.1457	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	327;375;144	Q7L4I2-2;Q7L4I2;B3KMH4	.;RSRC2_HUMAN;.	M	375;327	ENSP00000330188:K375M;ENSP00000346678:K327M	ENSP00000330188:K375M	K	-	2	0	RSRC2	121557335	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.638000	0.83328	2.371000	0.80710	0.533000	0.62120	AAG		0.383	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012	Missense_Mutation	19	77	0	0	0	0.001882	0	19	77				
NCOR2	9612	broad.mit.edu	37	12	124826399	124826399	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:124826399G>A	ENST00000405201.1	-	34	5158	c.5158C>T	c.(5158-5160)Ctg>Ttg	p.L1720L	NCOR2_ENST00000404121.2_Silent_p.L1281L|NCOR2_ENST00000356219.3_Silent_p.L1727L|NCOR2_ENST00000397355.1_Silent_p.L1711L|NCOR2_ENST00000429285.2_Silent_p.L1710L|NCOR2_ENST00000404621.1_Silent_p.L1710L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1728					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.L1727L(1)|p.L1720L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGAGTGCCAGCGAGGACTCG	0.647																																							uc010tba.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(5182-5184)CTG>TTG		nuclear receptor co-repressor 2 isoform 2							59.0	74.0	69.0					12																	124826399		2146	4242	6388	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124826399G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5158C>T	12.37:g.124826399G>A						NCOR2_uc010tay.1_Silent_p.L1727L|NCOR2_uc010taz.1_Silent_p.L1711L|NCOR2_uc010tbb.1_Silent_p.L1720L|NCOR2_uc010tbc.1_Silent_p.L1710L|NCOR2_uc010tax.1_5'Flank	p.L1728L	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	34	5299	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1728					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.5182C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	8.359	0.832644	0.16820	.	.	ENSG00000196498	ENST00000440187;ENST00000453428	.	.	.	4.37	2.54	0.30619	.	.	.	.	.	T	0.59280	0.2182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52533	-0.8563	4	.	.	.	-20.6693	10.1198	0.42614	0.1648:0.0:0.8352:0.0	.	.	.	.	V	4;68	.	.	A	-	2	0	NCOR2	123392352	0.999000	0.42202	0.962000	0.40283	0.692000	0.40212	3.018000	0.49625	0.319000	0.23209	0.491000	0.48974	GCT		0.647	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		12	57	0	0	0	0.003163	0	12	57				
TMEM132D	121256	broad.mit.edu	37	12	129566543	129566543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:129566543C>A	ENST00000422113.2	-	7	2010	c.1684G>T	c.(1684-1686)Gag>Tag	p.E562*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E100*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	562					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E562*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCCTCCGCTCATCATCCTCC	0.642																																							uc009zyl.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1684-1686)GAG>TAG		transmembrane protein 132D precursor							46.0	49.0	48.0					12																	129566543		2203	4300	6503	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:129566543C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1684G>T	12.37:g.129566543C>A	ENSP00000408581:p.Glu562*					TMEM132D_uc001uia.2_Nonsense_Mutation_p.E100*	p.E562*	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2012	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	562			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.1684G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	40	8.175062	0.98691	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	.	.	.	4.72	4.72	0.59763	.	0.247564	0.34223	N	0.004148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.2538	17.6741	0.88225	0.0:1.0:0.0:0.0	.	.	.	.	X	100;562	.	.	E	-	1	0	TMEM132D	128132496	1.000000	0.71417	0.040000	0.18447	0.329000	0.28539	7.350000	0.79385	2.149000	0.67028	0.561000	0.74099	GAG		0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		10	49	1	0	4.68919e-08	0.008291	6.87559e-08	10	49				
TMEM132D	121256	broad.mit.edu	37	12	130184738	130184738	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:130184738C>A	ENST00000422113.2	-	2	911	c.585G>T	c.(583-585)gaG>gaT	p.E195D	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	195					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E195D(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAGCTCCAGCTCGGCCACGC	0.692																																							uc009zyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(583-585)GAG>GAT		transmembrane protein 132D precursor							16.0	19.0	18.0					12																	130184738		2201	4298	6499	SO:0001583	missense	121256					integral to membrane		g.chr12:130184738C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.585G>T	12.37:g.130184738C>A	ENSP00000408581:p.Glu195Asp						p.E195D	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	913	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	195			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.585G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737330	0.49045	.	.	ENSG00000151952	ENST00000422113	T	0.47528	0.84	5.35	4.46	0.54185	.	0.453195	0.19625	N	0.109807	T	0.47340	0.1440	M	0.72894	2.215	0.27242	N	0.959114	P	0.45902	0.868	B	0.41510	0.359	T	0.47898	-0.9081	9	.	.	.	-18.8785	10.3711	0.44055	0.0:0.8498:0.0:0.1502	.	195	Q14C87	T132D_HUMAN	D	195	ENSP00000408581:E195D	.	E	-	3	2	TMEM132D	128750691	1.000000	0.71417	0.964000	0.40570	0.733000	0.41908	2.475000	0.45162	1.236000	0.43740	0.650000	0.86243	GAG		0.692	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		9	26	1	0	3.86212e-05	0.008291	4.78167e-05	9	26				
EP400	57634	broad.mit.edu	37	12	132522603	132522603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:132522603G>T	ENST00000333577.4	+	33	6386	c.6277G>T	c.(6277-6279)Gaa>Taa	p.E2093*	EP400_ENST00000389562.2_Nonsense_Mutation_p.E2056*|EP400_ENST00000330386.6_Nonsense_Mutation_p.E1976*|EP400_ENST00000332482.4_Nonsense_Mutation_p.E2020*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E2057*			Q96L91	EP400_HUMAN	E1A binding protein p400	2093					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)	p.E2056*(1)		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)		TTCTGTCACGGAAACCATTGC	0.498																																							uc001ujn.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(6169-6171)GAA>TAA		E1A binding protein p400							163.0	149.0	154.0					12																	132522603		2203	4300	6503	SO:0001587	stop_gained	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.chr12:132522603G>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.6277G>T	12.37:g.132522603G>T	ENSP00000333602:p.Glu2093*					EP400_uc001ujl.2_Nonsense_Mutation_p.E2056*|EP400_uc001ujm.2_Nonsense_Mutation_p.E1976*	p.E2057*	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)	31	6204	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2093					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37	c.6169G>T		.	.	.	.	.	.	.	.	.	.	G	48	14.259394	0.99787	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	5.35	5.35	0.76521	.	0.050656	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.0712	0.93138	0.0:0.0:1.0:0.0	.	.	.	.	X	2093;2057;2056;2020;1976;2057	.	ENSP00000330620:E1976X	E	+	1	0	EP400	131088556	1.000000	0.71417	0.818000	0.32626	0.869000	0.49853	9.397000	0.97276	2.494000	0.84150	0.555000	0.69702	GAA		0.498	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		15	84	1	0	2.32078e-09	0.003163	3.57952e-09	15	84				
NOC4L	79050	broad.mit.edu	37	12	132630208	132630208	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:132630208A>C	ENST00000330579.1	+	3	384	c.343A>C	c.(343-345)Aag>Cag	p.K115Q	DDX51_ENST00000397333.3_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	115					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K115Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CTTTCAGGTCAAGGTGGGTCA	0.592																																							uc001ujz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(343-345)AAG>CAG		nucleolar complex associated 4 homolog							108.0	92.0	97.0					12																	132630208		2203	4300	6503	SO:0001583	missense	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132630208A>C		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.343A>C	12.37:g.132630208A>C	ENSP00000328854:p.Lys115Gln					DDX51_uc001ujy.3_5'Flank	p.K115Q	NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	3	384	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		115					Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.343A>C	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	A	8.416	0.845209	0.16963	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T	0.65178	-0.14	4.08	-0.259	0.12971	Armadillo-like helical (1);	0.235198	0.41001	D	0.000965	T	0.43875	0.1267	L	0.42245	1.32	0.80722	D	1	B	0.18461	0.028	B	0.21360	0.034	T	0.17077	-1.0381	10	0.08599	T	0.76	-35.351	6.8763	0.24149	0.4729:0.4413:0.0858:0.0	.	115	Q9BVI4	NOC4L_HUMAN	Q	115;40	ENSP00000328854:K115Q	ENSP00000328854:K115Q	K	+	1	0	NOC4L	131196161	1.000000	0.71417	0.991000	0.47740	0.554000	0.35429	1.199000	0.32235	0.080000	0.16959	0.397000	0.26171	AAG		0.592	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		3	13	0	0	0	0.004672	0	3	13				
GOLGA3	2802	broad.mit.edu	37	12	133373168	133373168	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:133373168C>A	ENST00000450791.2	-	9	2240	c.2057G>T	c.(2056-2058)aGg>aTg	p.R686M	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R686M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R686M|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R686M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R686M			Q08378	GOGA3_HUMAN	golgin A3	686	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R686M(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCCGCCATCCTCTGCAGCCG	0.622																																							uc001ukz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2056-2058)AGG>ATG		Golgi autoantigen, golgin subfamily a, 3							159.0	155.0	156.0					12																	133373168		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133373168C>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2057G>T	12.37:g.133373168C>A	ENSP00000410378:p.Arg686Met					GOLGA3_uc001ula.1_Missense_Mutation_p.R686M|GOLGA3_uc001ulb.2_Missense_Mutation_p.R686M	p.R686M	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	10	2616	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	686			Gln-rich.|Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2057G>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713039	0.48517	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32272	1.89;1.89;1.89;1.46;1.46	5.48	1.16	0.20824	.	0.126641	0.64402	D	0.000001	T	0.27419	0.0673	N	0.22421	0.69	0.80722	D	1	D;P;D	0.57571	0.98;0.923;0.963	P;P;P	0.53809	0.73;0.641;0.735	T	0.03231	-1.1058	10	0.72032	D	0.01	.	7.336	0.26609	0.0:0.0976:0.1304:0.772	.	686;686;686	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	M	686	ENSP00000204726:R686M;ENSP00000410378:R686M;ENSP00000409303:R686M;ENSP00000442143:R686M;ENSP00000442603:R686M	ENSP00000204726:R686M	R	-	2	0	GOLGA3	131883241	1.000000	0.71417	0.629000	0.29254	0.156000	0.22039	2.767000	0.47637	-0.050000	0.13356	-0.886000	0.02939	AGG		0.622	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		28	112	1	0	5.45727e-16	0.008361	9.67818e-16	28	112				
TUBA3C	7278	broad.mit.edu	37	13	19751540	19751540	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:19751540G>T	ENST00000400113.3	-	4	687	c.583C>A	c.(583-585)Ctg>Atg	p.L195M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	195					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L195M(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAATGTTCCAGGGTCGTGTGG	0.557																																							uc009zzj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(583-585)CTG>ATG		tubulin, alpha 3c							150.0	147.0	148.0					13																	19751540		2203	4298	6501	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751540G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.583C>A	13.37:g.19751540G>T	ENSP00000382982:p.Leu195Met						p.L195M	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	632	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	195					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.583C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	9.209	1.030459	0.19512	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.70399	-0.48	1.21	1.21	0.21127	.	0.000000	0.37857	U	0.001911	T	0.73946	0.3652	.	.	.	0.39790	D	0.97241	.	.	.	.	.	.	T	0.76011	-0.3115	7	0.87932	D	0	.	8.3447	0.32266	0.0:0.0:1.0:0.0	.	.	.	.	M	195	ENSP00000382982:L195M	ENSP00000354037:L195M	L	-	1	2	TUBA3C	18649540	1.000000	0.71417	0.992000	0.48379	0.482000	0.33219	4.137000	0.58010	0.976000	0.38417	0.184000	0.17185	CTG		0.557	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		13	79	1	0	0.000151284	0.001855	0.000181292	13	79				
AMER2	219287	broad.mit.edu	37	13	25745661	25745661	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:25745661C>T	ENST00000515384.1	-	1	764	c.97G>A	c.(97-99)Ggg>Agg	p.G33R	AMER2_ENST00000381853.3_Missense_Mutation_p.G33R|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.G33R			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	33	Gly-rich.				ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G33R(2)									GTCCCGGCCCCGGCCTCCGCC	0.721																																							uc001uqb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|lung(1)	4						c.(97-99)GGG>AGG		hypothetical protein LOC219287 isoform 1							9.0	11.0	11.0					13																	25745661		2092	4212	6304	SO:0001583	missense	219287							g.chr13:25745661C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.97G>A	13.37:g.25745661C>T	ENSP00000426528:p.Gly33Arg					FAM123A_uc001uqa.2_Missense_Mutation_p.G33R|FAM123A_uc001uqc.2_Missense_Mutation_p.G33R	p.G33R	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	197	-		Lung SC(185;0.0225)|Breast(139;0.0602)	33			Gly-rich.		Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.97G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001821	0.35320	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.24908	1.85;1.85;1.83	3.42	3.42	0.39159	.	0.186693	0.30252	N	0.010048	T	0.22003	0.0530	L	0.29908	0.895	0.33789	D	0.625203	D;D	0.54772	0.968;0.961	B;B	0.43728	0.312;0.429	T	0.43097	-0.9412	10	0.72032	D	0.01	-26.3329	14.3394	0.66614	0.0:1.0:0.0:0.0	.	33;33	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	R	33	ENSP00000350469:G33R;ENSP00000371277:G33R;ENSP00000426528:G33R	ENSP00000350469:G33R	G	-	1	0	FAM123A	24643661	0.972000	0.33761	1.000000	0.80357	0.765000	0.43378	2.885000	0.48570	1.890000	0.54733	0.462000	0.41574	GGG		0.721	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		3	5	0	0	0	0.000602	0	3	5				
FLT1	2321	broad.mit.edu	37	13	28893581	28893581	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:28893581G>A	ENST00000282397.4	-	24	3516	c.3265C>T	c.(3265-3267)Ctg>Ttg	p.L1089L	FLT1_ENST00000543394.1_Silent_p.L112L|FLT1_ENST00000540678.1_Silent_p.L307L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1089	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.L1089L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTTCCCACAGCAATACTCCG	0.433																																							uc001usb.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(3265-3267)CTG>TTG		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						83.0	73.0	77.0					13																	28893581		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28893581G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3265C>T	13.37:g.28893581G>A						FLT1_uc010aap.2_Silent_p.L94L|FLT1_uc010aaq.2_Silent_p.L214L|FLT1_uc001usa.3_Silent_p.L307L	p.L1089L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	24	3550	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1089			Cytoplasmic (Potential).|Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.3265C>T	CCDS9330.1																																																																																				0.433	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			4	7	0	0	0	0.009096	0	4	7				
USPL1	10208	broad.mit.edu	37	13	31221131	31221131	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:31221131C>G	ENST00000255304.4	+	7	1517	c.1175C>G	c.(1174-1176)gCc>gGc	p.A392G		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	392	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.A392G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CTTAATGCTGCCCATTTTGGT	0.308																																					Ovarian(60;318 1180 1554 28110 31601)	Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(1174-1176)GCC>GGC		ubiquitin specific peptidase like 1							102.0	98.0	99.0					13																	31221131		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31221131C>G	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1175C>G	13.37:g.31221131C>G	ENSP00000255304:p.Ala392Gly					USPL1_uc001utb.2_Missense_Mutation_p.A211G|USPL1_uc001utd.2_Missense_Mutation_p.A63G|USPL1_uc001ute.1_Missense_Mutation_p.A63G	p.A392G	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	7	1607	+		Lung SC(185;0.0257)|Breast(139;0.203)	392					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.1175C>G	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692595	0.68271	.	.	ENSG00000132952	ENST00000255304	T	0.02737	4.18	5.56	3.45	0.39498	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.274686	0.41712	D	0.000827	T	0.08802	0.0218	M	0.63428	1.95	0.31716	N	0.638965	D	0.89917	1.0	D	0.68039	0.955	T	0.02829	-1.1105	10	0.59425	D	0.04	-8.0367	4.7765	0.13182	0.0:0.6515:0.0:0.3485	.	392	Q5W0Q7	USPL1_HUMAN	G	392	ENSP00000255304:A392G	ENSP00000255304:A392G	A	+	2	0	USPL1	30119131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.726000	0.38085	1.482000	0.48325	0.650000	0.86243	GCC		0.308	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		17	32	0	0	0	0.006122	0	17	32				
POSTN	10631	broad.mit.edu	37	13	38160919	38160919	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:38160919T>A	ENST00000379747.4	-	6	870	c.753A>T	c.(751-753)agA>agT	p.R251S	POSTN_ENST00000541179.1_Splice_Site_p.R251S|POSTN_ENST00000541481.1_Splice_Site_p.R251S|POSTN_ENST00000379743.4_Splice_Site_p.R251S|POSTN_ENST00000379749.4_Splice_Site_p.R251S|POSTN_ENST00000379742.4_Splice_Site_p.R251S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	251	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.R251S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTGGACTTACTCTAAAAGATG	0.358																																							uc001uwo.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(751-753)AGA>AGT		periostin, osteoblast specific factor isoform 1							107.0	95.0	99.0					13																	38160919		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160919T>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.753+1A>T	13.37:g.38160919T>A						POSTN_uc001uwp.3_Missense_Mutation_p.R251S|POSTN_uc001uwr.2_Missense_Mutation_p.R251S|POSTN_uc001uwq.2_Missense_Mutation_p.R251S|POSTN_uc010teu.1_Missense_Mutation_p.R251S|POSTN_uc010tev.1_Missense_Mutation_p.R251S|POSTN_uc010tew.1_Missense_Mutation_p.R251S|POSTN_uc010tex.1_Missense_Mutation_p.R166S	p.R251S	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	6	871	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	251			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.753A>T	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058436	0.55325	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.42	-1.44	0.08856	FAS1 domain (4);	0.167912	0.64402	D	0.000004	D	0.88566	0.6471	N	0.13299	0.325	0.46478	D	0.999069	D;D;B;D;D;B;B	0.76494	0.999;0.997;0.083;0.997;0.997;0.328;0.083	D;D;B;D;D;B;B	0.85130	0.997;0.995;0.124;0.995;0.988;0.155;0.124	D	0.83927	0.0304	9	.	.	.	.	13.8164	0.63295	0.0:0.185:0.0:0.815	.	251;251;251;251;251;251;251	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	S	251;251;251;251;251;251;168	ENSP00000437959:R251S;ENSP00000369073:R251S;ENSP00000369071:R251S;ENSP00000369067:R251S;ENSP00000369066:R251S;ENSP00000437953:R251S	.	R	-	3	2	POSTN	37058919	0.945000	0.32115	0.961000	0.40146	0.845000	0.48019	0.038000	0.13862	-0.239000	0.09710	0.460000	0.39030	AGA		0.358	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Missense_Mutation	8	24	0	0	0	0.008291	0	8	24				
THSD1	55901	broad.mit.edu	37	13	52960290	52960290	+	Missense_Mutation	SNP	C	C	A	rs200722444	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:52960290C>A	ENST00000258613.4	-	4	1231	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	THSD1_ENST00000349258.4_Intron|THSD1_ENST00000544466.1_5'UTR	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	351	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.Q351H(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGGCACTACACTGGCTCCATG	0.502																																							uc001vgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1051-1053)CAG>CAT		thrombospondin type I domain-containing 1							168.0	166.0	167.0					13																	52960290		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52960290C>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1053G>T	13.37:g.52960290C>A	ENSP00000258613:p.Gln351His					THSD1_uc001vgp.2_Intron|THSD1_uc010tgz.1_5'UTR|THSD1_uc010aea.2_Intron	p.Q351H	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	1598	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	351			Extracellular (Potential).|TSP type-1.		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1053G>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791645	0.50102	.	.	ENSG00000136114	ENST00000258613;ENST00000378095	T	0.54866	0.55	5.03	2.1	0.27182	.	0.435458	0.23577	N	0.046691	T	0.44371	0.1290	L	0.29908	0.895	0.80722	D	1	P	0.48764	0.915	P	0.54312	0.748	T	0.37596	-0.9699	10	0.33940	T	0.23	-10.9164	2.1946	0.03907	0.1359:0.4973:0.1326:0.2342	.	351	Q9NS62	THSD1_HUMAN	H	351	ENSP00000258613:Q351H	ENSP00000258613:Q351H	Q	-	3	2	THSD1	51858291	0.445000	0.25657	1.000000	0.80357	0.987000	0.75469	-0.442000	0.06871	1.118000	0.41863	0.563000	0.77884	CAG		0.502	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			13	44	1	0	9.31168e-06	0.001855	1.20836e-05	13	44				
OXGR1	27199	broad.mit.edu	37	13	97639466	97639466	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:97639466C>A	ENST00000298440.1	-	4	791	c.548G>T	c.(547-549)tGt>tTt	p.C183F	OXGR1_ENST00000543457.1_Missense_Mutation_p.C183F	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	183					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C183F(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GAGGTCGAGACAGGCTGATCT	0.468																																							uc001vmx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(547-549)TGT>TTT		oxoglutarate (alpha-ketoglutarate) receptor 1							150.0	117.0	128.0					13																	97639466		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639466C>A	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.548G>T	13.37:g.97639466C>A	ENSP00000298440:p.Cys183Phe					OXGR1_uc010afr.1_Missense_Mutation_p.C183F	p.C183F	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	792	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		183			Extracellular (Potential).		Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.548G>T	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345009	0.82022	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.62639	0.01;0.01	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83326	0.5230	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84676	0.0714	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	183	Q96P68	OXGR1_HUMAN	F	183	ENSP00000298440:C183F;ENSP00000438800:C183F	ENSP00000298440:C183F	C	-	2	0	OXGR1	96437467	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	TGT		0.468	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		8	25	1	0	0.000157383	0.00308	0.000187214	8	25				
OXGR1	27199	broad.mit.edu	37	13	97639828	97639828	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:97639828C>G	ENST00000298440.1	-	4	429	c.186G>C	c.(184-186)atG>atC	p.M62I	OXGR1_ENST00000543457.1_Missense_Mutation_p.M62I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	62					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M62I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TCCAAGGTCTCATTTTGAAAA	0.468																																							uc001vmx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(184-186)ATG>ATC		oxoglutarate (alpha-ketoglutarate) receptor 1							121.0	114.0	116.0					13																	97639828		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639828C>G	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.186G>C	13.37:g.97639828C>G	ENSP00000298440:p.Met62Ile					OXGR1_uc010afr.1_Missense_Mutation_p.M62I	p.M62I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	430	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		62			Cytoplasmic (Potential).		Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.186G>C	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100615	0.56183	.	.	ENSG00000165621	ENST00000298440;ENST00000543457;ENST00000541518;ENST00000541038	T;T;T	0.36520	1.25;1.25;1.25	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.187051	0.47852	D	0.000214	T	0.25419	0.0618	N	0.17631	0.505	0.38448	D	0.946881	P	0.36086	0.536	B	0.31686	0.134	T	0.07635	-1.0762	10	0.26408	T	0.33	.	19.0978	0.93260	0.0:1.0:0.0:0.0	.	62	Q96P68	OXGR1_HUMAN	I	62	ENSP00000298440:M62I;ENSP00000438800:M62I;ENSP00000445269:M62I	ENSP00000298440:M62I	M	-	3	0	OXGR1	96437829	1.000000	0.71417	0.970000	0.41538	0.910000	0.53928	5.909000	0.69923	2.735000	0.93741	0.655000	0.94253	ATG		0.468	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		5	5	0	0	0	0.000602	0	5	5				
OR4K5	79317	broad.mit.edu	37	14	20389047	20389047	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:20389047C>A	ENST00000315915.4	+	1	307	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F94L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATATCTTTCAGTGGCTGCA	0.423																																							uc010tkw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(280-282)TTC>TTA		olfactory receptor, family 4, subfamily K,							260.0	278.0	272.0					14																	20389047		2203	4299	6502	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389047C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.282C>A	14.37:g.20389047C>A	ENSP00000319511:p.Phe94Leu						p.F94L	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	282	+	all_cancers(95;0.00108)		94			Extracellular (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.282C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	11.52	1.663093	0.29515	.	.	ENSG00000176281	ENST00000315915	T	0.00327	8.09	4.41	-0.849	0.10723	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000070	T	0.00210	0.0006	L	0.55990	1.75	0.09310	N	1	B	0.21225	0.053	B	0.16722	0.016	T	0.50180	-0.8858	10	0.51188	T	0.08	.	1.1645	0.01812	0.1469:0.3499:0.1437:0.3595	.	94	Q8NGD3	OR4K5_HUMAN	L	94	ENSP00000319511:F94L	ENSP00000319511:F94L	F	+	3	2	OR4K5	19458887	0.000000	0.05858	0.012000	0.15200	0.939000	0.58152	-2.402000	0.01047	-0.101000	0.12219	-0.140000	0.14226	TTC		0.423	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		15	267	1	0	1.3612e-06	0.003163	1.85225e-06	15	267				
TEP1	7011	broad.mit.edu	37	14	20864809	20864809	+	Missense_Mutation	SNP	C	C	T	rs551571343		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:20864809C>T	ENST00000262715.5	-	10	1670	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	TEP1_ENST00000556935.1_Missense_Mutation_p.E436K	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	544	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.E544K(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGAATGAGCTCATGGTGGCGG	0.567																																							uc001vxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1630-1632)GAG>AAG		telomerase-associated protein 1							97.0	83.0	88.0					14																	20864809		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20864809C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1630G>A	14.37:g.20864809C>T	ENSP00000262715:p.Glu544Lys					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.E436K	p.E544K	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	10	1670	-	all_cancers(95;0.00123)	all_lung(585;0.235)	544			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1630G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023942	0.54683	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.13538	2.58;2.58	5.59	4.7	0.59300	TROVE (2);	0.227903	0.44902	D	0.000404	T	0.11067	0.0270	L	0.42245	1.32	0.58432	D	0.99999	P;P	0.37781	0.462;0.608	B;B	0.33799	0.093;0.17	T	0.15723	-1.0427	10	0.25106	T	0.35	-10.714	10.0865	0.42421	0.0:0.8427:0.0:0.1573	.	436;544	G3V5X7;Q99973	.;TEP1_HUMAN	K	544;544;436	ENSP00000262715:E544K;ENSP00000452574:E436K	ENSP00000262715:E544K	E	-	1	0	TEP1	19934649	0.042000	0.20092	0.909000	0.35828	0.403000	0.30841	0.320000	0.19540	1.365000	0.46057	0.655000	0.94253	GAG		0.567	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		3	8	0	0	0	0.004672	0	3	8				
AJUBA	84962	broad.mit.edu	37	14	23450581	23450581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:23450581C>A	ENST00000262713.2	-	1	1270	c.895G>T	c.(895-897)Gga>Tga	p.G299*	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.G299*|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	299	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G299*(1)									GAGGGTTCTCCGCGGGCTCCG	0.716																																						Esophageal Squamous(134;328 1721 9795 37986 41605)	uc001whz.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(895-897)GGA>TGA		ajuba isoform 1							16.0	20.0	19.0					14																	23450581		2195	4293	6488	SO:0001587	stop_gained	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450581C>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.895G>T	14.37:g.23450581C>A	ENSP00000262713:p.Gly299*						p.G299*	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	1	1271	-	all_cancers(95;4.6e-05)		299			PreLIM.		A8MX18|D3DS37	Nonsense_Mutation	SNP	ENST00000262713.2	37	c.895G>T	CCDS9581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.995418|3.995418	0.74703|0.74703	.|.	.|.	ENSG00000129474|ENSG00000129474	ENST00000262713;ENST00000361265|ENST00000553736	.|.	.|.	.|.	5.25|5.25	2.37|2.37	0.29283|0.29283	.|.	0.395784|.	0.22261|.	N|.	0.062412|.	.|T	.|0.41696	.|0.1170	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47911	.|-0.9080	.|3	0.28530|.	T|.	0.3|.	.|.	6.7391|6.7391	0.23424|0.23424	0.0:0.6885:0.1465:0.1651|0.0:0.6885:0.1465:0.1651	.|.	.|.	.|.	.|.	X|L	299|72	.|.	ENSP00000262713:G299X|.	G|R	-|-	1|2	0|0	JUB|JUB	22520421|22520421	0.059000|0.059000	0.20769|0.20769	0.110000|0.110000	0.21437|0.21437	0.389000|0.389000	0.30415|0.30415	0.162000|0.162000	0.16501|0.16501	0.195000|0.195000	0.20347|0.20347	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.716	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			6	19	1	0	8.12818e-05	0.001984	9.82943e-05	6	19				
MYH6	4624	broad.mit.edu	37	14	23856749	23856749	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:23856749C>G	ENST00000356287.3	-	31	4668	c.4639G>C	c.(4639-4641)Gag>Cag	p.E1547Q	MYH6_ENST00000405093.3_Missense_Mutation_p.E1547Q|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1547					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)	p.E1547Q(1)		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)		TCTGCCTCCTCCAGGGCTGAC	0.612																																							uc001wjv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(4639-4641)GAG>CAG		myosin heavy chain 6							88.0	69.0	75.0					14																	23856749		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.chr14:23856749C>G	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.4639G>C	14.37:g.23856749C>G	ENSP00000348634:p.Glu1547Gln						p.E1547Q	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	32	4706	-	all_cancers(95;2.54e-05)		1547			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4639G>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.437739	0.83885	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86297	-2.1;-2.1	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.95924	0.8673	H	0.96833	3.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97659	1.0159	9	0.87932	D	0	.	17.8925	0.88877	0.0:1.0:0.0:0.0	.	1547	P13533	MYH6_HUMAN	Q	1547	ENSP00000386041:E1547Q;ENSP00000348634:E1547Q	ENSP00000348634:E1547Q	E	-	1	0	MYH6	22926589	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	5.918000	0.69996	2.292000	0.77174	0.561000	0.74099	GAG		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			8	28	0	0	0	0.00308	0	8	28				
IPO4	79711	broad.mit.edu	37	14	24656934	24656934	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:24656934C>A	ENST00000354464.6	-	5	523	c.347G>T	c.(346-348)tGg>tTg	p.W116L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	116					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.W116L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AAGCTGTGGCCAGGCCTCCAA	0.592																																							uc001wmv.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(346-348)TGG>TTG		importin 4							54.0	60.0	58.0					14																	24656934		2031	4198	6229	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24656934C>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.347G>T	14.37:g.24656934C>A	ENSP00000346453:p.Trp116Leu					IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.W116L	p.W116L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	5	478	-			116					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.347G>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440596	0.83993	.	.	ENSG00000196497	ENST00000354464	T	0.08984	3.03	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00043	-1.2225	10	0.52906	T	0.07	-12.9745	14.2767	0.66184	0.0:1.0:0.0:0.0	.	116	Q8TEX9	IPO4_HUMAN	L	116	ENSP00000346453:W116L	ENSP00000346453:W116L	W	-	2	0	IPO4	23726774	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.713000	0.61895	2.735000	0.93741	0.655000	0.94253	TGG		0.592	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		14	53	1	0	7.93312e-07	0.00245	1.09071e-06	14	53				
NYNRIN	57523	broad.mit.edu	37	14	24884157	24884157	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:24884157C>T	ENST00000382554.3	+	9	3520	c.3202C>T	c.(3202-3204)Ccc>Tcc	p.P1068S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1068					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.P1068S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGGGCATCCCCTGGGATGG	0.627																																							uc001wpf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(3202-3204)CCC>TCC		hypothetical protein LOC57523							71.0	81.0	78.0					14																	24884157		2047	4187	6234	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884157C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3202C>T	14.37:g.24884157C>T	ENSP00000371994:p.Pro1068Ser						p.P1068S	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	3520	+			1068					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3202C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019179	0.75275	.	.	ENSG00000205978	ENST00000382554	T	0.40476	1.03	4.45	4.45	0.53987	.	.	.	.	.	T	0.56485	0.1988	L	0.56769	1.78	0.30747	N	0.745521	D	0.89917	1.0	D	0.79108	0.992	T	0.51949	-0.8640	9	0.17832	T	0.49	.	12.4491	0.55667	0.0:1.0:0.0:0.0	.	1068	Q9P2P1	NYNRI_HUMAN	S	1068	ENSP00000371994:P1068S	ENSP00000371994:P1068S	P	+	1	0	NYNRIN	23953997	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	3.347000	0.52200	2.296000	0.77279	0.561000	0.74099	CCC		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			7	53	0	0	0	0.001984	0	7	53				
NOVA1	4857	broad.mit.edu	37	14	26918030	26918030	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:26918030A>G	ENST00000539517.2	-	5	976	c.659T>C	c.(658-660)gTt>gCt	p.V220A	NOVA1_ENST00000465357.2_Missense_Mutation_p.V196A|NOVA1_ENST00000267422.7_Missense_Mutation_p.V98A	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	223	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V220A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CACAGTGACAACCCTCTCTTG	0.483																																							uc001wpy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(658-660)GTT>GCT		neuro-oncological ventral antigen 1 isoform 1							201.0	185.0	191.0					14																	26918030		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26918030A>G	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.659T>C	14.37:g.26918030A>G	ENSP00000438875:p.Val220Ala					NOVA1_uc001wpz.2_Missense_Mutation_p.V196A|NOVA1_uc001wqa.2_Missense_Mutation_p.V98A	p.V220A	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	977	-			223			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.659T>C	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779566	0.70107	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.73	5.73	0.89815	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000003	T	0.49712	0.1573	L	0.55834	1.745	0.80722	D	1	D;D;P	0.54964	0.969;0.963;0.954	D;D;D	0.68621	0.93;0.959;0.932	T	0.34700	-0.9818	10	0.30078	T	0.28	-3.1828	16.0142	0.80425	1.0:0.0:0.0:0.0	.	223;196;220	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	A	196;220;98;179;74	ENSP00000447391:V196A;ENSP00000438875:V220A;ENSP00000267422:V98A;ENSP00000408914:V179A;ENSP00000299472:V74A	ENSP00000267422:V98A	V	-	2	0	NOVA1	25987870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.187000	0.69744	0.460000	0.39030	GTT		0.483	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		12	87	0	0	0	0.003163	0	12	87				
MBIP	51562	broad.mit.edu	37	14	36789785	36789785	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:36789785C>A	ENST00000416007.4	-	1	97	c.10G>T	c.(10-12)Gcc>Tcc	p.A4S	MBIP_ENST00000359527.7_Missense_Mutation_p.A4S|MBIP_ENST00000318473.7_Missense_Mutation_p.A4S	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	4					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)	p.A4S(1)		breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AGCTCCGTGGCAGCAGCCATG	0.592																																							uc001wtm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(10-12)GCC>TCC		MAP3K12 binding inhibitory protein 1 isoform 1							47.0	38.0	41.0					14																	36789785		2203	4299	6502	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36789785C>A	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.10G>T	14.37:g.36789785C>A	ENSP00000399718:p.Ala4Ser					MBIP_uc001wto.2_Missense_Mutation_p.A4S|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.A4S	p.A4S	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	1	98	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		4					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.10G>T	CCDS9658.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594656	0.28445	.	.	ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298	T;T;T	0.46063	0.88;0.88;0.88	5.05	2.0	0.26442	.	0.555420	0.18775	N	0.131510	T	0.24509	0.0594	N	0.25647	0.755	0.20703	N	0.999868	B;B;B	0.14805	0.004;0.011;0.004	B;B;B	0.11329	0.006;0.006;0.006	T	0.10823	-1.0613	10	0.32370	T	0.25	0.0014	4.4809	0.11766	0.175:0.6391:0.0:0.1859	.	4;4;4	Q9NS73-5;Q9NS73-3;Q9NS73	.;.;MBIP1_HUMAN	S	4	ENSP00000399718:A4S;ENSP00000324444:A4S;ENSP00000352517:A4S	ENSP00000324444:A4S	A	-	1	0	MBIP	35859536	0.066000	0.20996	0.456000	0.27044	0.201000	0.24016	0.515000	0.22801	0.808000	0.34231	0.591000	0.81541	GCC		0.592	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		4	26	1	0	5.18039e-06	0.00308	6.82593e-06	4	26				
FBXO33	254170	broad.mit.edu	37	14	39870665	39870665	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:39870665G>T	ENST00000298097.7	-	3	1448	c.1111C>A	c.(1111-1113)Cgg>Agg	p.R371R	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	371					protein ubiquitination (GO:0016567)			p.R371R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ATATAGACCCGAAAGCTGGTG	0.398																																							uc001wvk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1111-1113)CGG>AGG		F-box protein 33							80.0	78.0	79.0					14																	39870665		2203	4300	6503	SO:0001819	synonymous_variant	254170							g.chr14:39870665G>T	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.1111C>A	14.37:g.39870665G>T							p.R371R	NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	3	1449	-	Hepatocellular(127;0.213)		371					Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	ENST00000298097.7	37	c.1111C>A	CCDS9677.1																																																																																				0.398	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			11	44	1	0	7.03913e-09	0.001368	1.06427e-08	11	44				
LRFN5	145581	broad.mit.edu	37	14	42356335	42356335	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:42356335G>A	ENST00000298119.4	+	3	1696	c.507G>A	c.(505-507)aaG>aaA	p.K169K	LRFN5_ENST00000554171.1_Silent_p.K169K|LRFN5_ENST00000554120.1_Silent_p.K169K	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	169						integral component of membrane (GO:0016021)		p.K169K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTTGAGAAGATGGTTAGCT	0.418										HNSCC(30;0.082)																													uc001wvm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(505-507)AAG>AAA		leucine rich repeat and fibronectin type III							87.0	72.0	77.0					14																	42356335		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356335G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.507G>A	14.37:g.42356335G>A		HNSCC(30;0.082)				LRFN5_uc010ana.2_Silent_p.K169K	p.K169K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1705	+			169			Extracellular (Potential).|LRR 5.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.507G>A	CCDS9678.1																																																																																				0.418	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		4	48	0	0	0	0.009096	0	4	48				
FSCB	84075	broad.mit.edu	37	14	44973781	44973781	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:44973781G>T	ENST00000340446.4	-	1	2701	c.2410C>A	c.(2410-2412)Cag>Aag	p.Q804K	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	804						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.Q804K(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GTGGGAGCCTGTCCATCATTG	0.358																																							uc001wvn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(2410-2412)CAG>AAG		fibrous sheath CABYR binding protein							70.0	75.0	74.0					14																	44973781		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44973781G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2410C>A	14.37:g.44973781G>T	ENSP00000344579:p.Gln804Lys						p.Q804K	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2719	-			804					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2410C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404221	0.25378	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17370	2.28	4.39	-4.77	0.03219	.	.	.	.	.	T	0.07548	0.0190	L	0.34521	1.04	0.09310	N	1	P	0.42584	0.784	B	0.36808	0.233	T	0.28586	-1.0039	9	0.15952	T	0.53	5.8583	1.6297	0.02730	0.1684:0.3539:0.151:0.3268	.	804	Q5H9T9	FSCB_HUMAN	K	804;697	ENSP00000344579:Q804K	ENSP00000344579:Q804K	Q	-	1	0	FSCB	44043531	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.599000	0.02085	-0.795000	0.04462	0.555000	0.69702	CAG		0.358	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		8	58	1	0	0.000157383	0.00308	0.000187214	8	58				
FSCB	84075	broad.mit.edu	37	14	44975604	44975604	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:44975604G>A	ENST00000340446.4	-	1	878	c.587C>T	c.(586-588)cCt>cTt	p.P196L	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	196						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.P196L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTGAAATTCAGGGTGTTCACT	0.398																																							uc001wvn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(586-588)CCT>CTT		fibrous sheath CABYR binding protein							132.0	138.0	136.0					14																	44975604		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975604G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.587C>T	14.37:g.44975604G>A	ENSP00000344579:p.Pro196Leu						p.P196L	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	896	-			196					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.587C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731623	0.69189	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.23950	1.88	4.2	4.2	0.49525	.	.	.	.	.	T	0.42832	0.1220	L	0.53249	1.67	0.43334	D	0.995379	D	0.76494	0.999	D	0.70935	0.971	T	0.15636	-1.0430	9	0.39692	T	0.17	-5.0994	12.7841	0.57493	0.0:0.0:1.0:0.0	.	196	Q5H9T9	FSCB_HUMAN	L	196	ENSP00000344579:P196L	ENSP00000344579:P196L	P	-	2	0	FSCB	44045354	0.994000	0.37717	0.957000	0.39632	0.660000	0.38997	2.966000	0.49208	2.294000	0.77228	0.655000	0.94253	CCT		0.398	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		22	102	0	0	0	0.001882	0	22	102				
FAM179B	23116	broad.mit.edu	37	14	45432037	45432037	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:45432037G>C	ENST00000361577.3	+	1	627	c.413G>C	c.(412-414)cGg>cCg	p.R138P	FAM179B_ENST00000361462.2_Missense_Mutation_p.R138P|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.R138P|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	138								p.R138P(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTTGTATCGGGCACTGGGC	0.632																																							uc001wvv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(412-414)CGG>CCG		hypothetical protein LOC23116							69.0	78.0	75.0					14																	45432037		2183	4262	6445	SO:0001583	missense	23116						binding	g.chr14:45432037G>C	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.413G>C	14.37:g.45432037G>C	ENSP00000355045:p.Arg138Pro					FAM179B_uc001wvw.2_Missense_Mutation_p.R138P|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R138P|FAM179B_uc001wvu.2_Missense_Mutation_p.R138P	p.R138P	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	622	+			138					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.413G>C	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688813	0.68271	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.62105	1.72;1.72;0.05	4.88	4.88	0.63580	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.42053	D	0.000780	T	0.66147	0.2760	N	0.24115	0.695	0.37058	D	0.897929	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.945;0.994;0.987;0.945	T	0.70831	-0.4765	10	0.46703	T	0.11	-7.7637	13.4039	0.60900	0.0:0.0:1.0:0.0	.	138;138;138;138	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	P	138	ENSP00000355045:R138P;ENSP00000354917:R138P;ENSP00000371668:R138P	ENSP00000354917:R138P	R	+	2	0	FAM179B	44501787	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.979000	0.49313	2.526000	0.85167	0.655000	0.94253	CGG		0.632	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		27	77	0	0	0	0.007291	0	27	77				
AP5M1	55745	broad.mit.edu	37	14	57749878	57749878	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:57749878C>A	ENST00000261558.3	+	6	1629	c.1223C>A	c.(1222-1224)aCt>aAt	p.T408N	AP5M1_ENST00000431972.2_Missense_Mutation_p.T422N|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	408	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)		p.T408N(1)									GGAACTGTAACTTTTGGAGCC	0.343																																							uc001xcv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1222-1224)ACT>AAT		Mu-2 related death-inducing protein							79.0	80.0	80.0					14																	57749878		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57749878C>A	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1223C>A	14.37:g.57749878C>A	ENSP00000261558:p.Thr408Asn					MUDENG_uc010tri.1_Missense_Mutation_p.T162N|MUDENG_uc010trj.1_Missense_Mutation_p.T305N	p.T408N	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN			6	1650	+			408			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.1223C>A	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655693	0.29425	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.19806	2.12;2.12	5.96	4.99	0.66335	Clathrin adaptor, mu subunit, C-terminal (3);	0.411457	0.30584	N	0.009306	T	0.16727	0.0402	L	0.29908	0.895	0.42674	D	0.993524	B	0.10296	0.003	B	0.14578	0.011	T	0.06899	-1.0801	10	0.11485	T	0.65	.	17.8997	0.88900	0.1297:0.8703:0.0:0.0	.	408	Q9H0R1	MUDEN_HUMAN	N	408;422	ENSP00000261558:T408N;ENSP00000390531:T422N	ENSP00000261558:T408N	T	+	2	0	MUDENG	56819631	0.988000	0.35896	1.000000	0.80357	0.833000	0.47200	0.867000	0.27968	2.813000	0.96785	0.655000	0.94253	ACT		0.343	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		10	52	1	0	3.86212e-05	0.008291	4.78167e-05	10	52				
DACT1	51339	broad.mit.edu	37	14	59112625	59112625	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:59112625C>T	ENST00000335867.4	+	4	1308	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	DACT1_ENST00000541264.2_Silent_p.A147A|DACT1_ENST00000556859.1_Silent_p.A147A|DACT1_ENST00000395153.3_Silent_p.A391A			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	428					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.A428A(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGAACAAGCCGAAAGCAAGA	0.597																																							uc001xdw.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(1282-1284)GCC>GCT		dapper 1 isoform 1							45.0	53.0	50.0					14																	59112625		2203	4298	6501	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112625C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1284C>T	14.37:g.59112625C>T						DACT1_uc010trv.1_Silent_p.A147A|DACT1_uc001xdx.2_Silent_p.A391A|DACT1_uc010trw.1_Silent_p.A147A	p.A428A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1448	+			428					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.1284C>T	CCDS9736.1																																																																																				0.597	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		6	29	0	0	0	0.001984	0	6	29				
DAAM1	23002	broad.mit.edu	37	14	59757934	59757934	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:59757934G>T	ENST00000395125.1	+	2	206		c.e2-1		DAAM1_ENST00000556135.1_Splice_Site|DAAM1_ENST00000351081.1_Splice_Site|DAAM1_ENST00000360909.3_Splice_Site	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1						actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.?(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTCTTCTCAGGATGAACTGG	0.338																																							uc001xdz.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e3-1		dishevelled-associated activator of							74.0	72.0	72.0					14																	59757934		2203	4300	6503	SO:0001630	splice_region_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59757934G>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.184-1G>T	14.37:g.59757934G>T						DAAM1_uc001xea.1_Splice_Site_p.D62_splice|DAAM1_uc001xeb.1_Splice_Site_p.D62_splice	p.D62_splice	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	3	309	+								Q86U34|Q8N1Z8|Q8TB39	Splice_Site	SNP	ENST00000395125.1	37	c.184_splice	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796439	0.70567	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000556135;ENST00000395125	.	.	.	5.89	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2425	0.73482	0.0674:0.0:0.9326:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DAAM1	58827687	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.763000	0.98947	1.491000	0.48482	0.655000	0.94253	.		0.338	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	Intron	8	13	1	0	1.06961e-07	0.00308	1.54041e-07	8	13				
SYT16	83851	broad.mit.edu	37	14	62536500	62536500	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:62536500G>A	ENST00000430451.2	+	2	900	c.703G>A	c.(703-705)Gga>Aga	p.G235R	SYT16_ENST00000446982.2_Missense_Mutation_p.G235R|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	235					exocytosis (GO:0006887)			p.G235R(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTTGACACACGGAGAAGATGG	0.488																																							uc001xfu.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(703-705)GGA>AGA		synaptotagmin XIV-like							112.0	113.0	113.0					14																	62536500		1985	4162	6147	SO:0001583	missense	83851							g.chr14:62536500G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.703G>A	14.37:g.62536500G>A	ENSP00000394700:p.Gly235Arg					SYT16_uc010tsd.1_Missense_Mutation_p.G235R	p.G235R	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	2	900	+			235					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.703G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843779	0.32606	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.29917	1.55;3.82	5.4	-2.13	0.07144	.	0.343614	0.29126	N	0.013075	T	0.12475	0.0303	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.08055	0.0;0.003	T	0.10917	-1.0609	10	0.59425	D	0.04	-1.4057	6.7926	0.23707	0.302:0.31:0.388:0.0	.	235;235	B4DZH2;Q17RD7	.;SYT16_HUMAN	R	235	ENSP00000388023:G235R;ENSP00000394700:G235R	ENSP00000394700:G235R	G	+	1	0	SYT16	61606253	0.879000	0.30193	0.001000	0.08648	0.001000	0.01503	1.202000	0.32271	-0.636000	0.05524	-0.878000	0.02970	GGA		0.488	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		6	35	0	0	0	0.001984	0	6	35				
SYNE2	23224	broad.mit.edu	37	14	64518958	64518958	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:64518958T>C	ENST00000344113.4	+	48	8539	c.8327T>C	c.(8326-8328)cTa>cCa	p.L2776P	SYNE2_ENST00000358025.3_Missense_Mutation_p.L2776P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L2809P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2776					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L2776P(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATGGCATTCTAGCTAGGCAG	0.443																																							uc001xgm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(8326-8328)CTA>CCA		spectrin repeat containing, nuclear envelope 2							164.0	152.0	156.0					14																	64518958		1961	4155	6116	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518958T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8327T>C	14.37:g.64518958T>C	ENSP00000341781:p.Leu2776Pro					SYNE2_uc001xgl.2_Missense_Mutation_p.L2776P	p.L2776P	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8557	+			2776			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8327T>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.868323	0.32977	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.35789	1.29;1.29;1.29	5.42	5.42	0.78866	.	0.000000	0.43579	D	0.000552	T	0.45597	0.1350	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.35992	-0.9766	10	0.39692	T	0.17	.	10.0088	0.41972	0.1503:0.0:0.0:0.8497	.	2776;2776	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	2776;2776;2809;2809	ENSP00000350719:L2776P;ENSP00000341781:L2776P;ENSP00000452570:L2809P	ENSP00000261678:L2809P	L	+	2	0	SYNE2	63588711	0.997000	0.39634	0.977000	0.42913	0.962000	0.63368	2.627000	0.46469	2.050000	0.60909	0.260000	0.18958	CTA		0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		19	90	0	0	0	0.006122	0	19	90				
PLEKHG3	26030	broad.mit.edu	37	14	65210038	65210038	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:65210038G>C	ENST00000394691.1	+	17	3424	c.3277G>C	c.(3277-3279)Ggc>Cgc	p.G1093R	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G598R|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G626R|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.G1037R			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1093							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1037R(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACCTCTGTCGGGCAGGGTGGG	0.736																																							uc001xho.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3277-3279)GGC>CGC		pleckstrin homology domain containing, family G,							15.0	19.0	17.0					14																	65210038		2193	4287	6480	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65210038G>C	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3277G>C	14.37:g.65210038G>C	ENSP00000378183:p.Gly1093Arg					PLEKHG3_uc001xhn.1_Missense_Mutation_p.G1037R|PLEKHG3_uc001xhp.2_Missense_Mutation_p.G1214R|PLEKHG3_uc010aqh.1_Missense_Mutation_p.G635R|PLEKHG3_uc001xhq.1_Missense_Mutation_p.G598R	p.G1093R	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	17	3546	+			1093					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.3277G>C		.	.	.	.	.	.	.	.	.	.	G	10.19	1.282844	0.23392	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.67865	0.16;-0.29;1.07;1.08	5.26	4.37	0.52481	.	0.477519	0.19393	N	0.115345	T	0.76891	0.4051	L	0.59436	1.845	0.09310	N	1	D;D;D;P	0.67145	0.996;0.996;0.964;0.928	D;D;P;P	0.66497	0.944;0.944;0.621;0.696	T	0.68949	-0.5274	10	0.87932	D	0	.	12.8266	0.57723	0.0807:0.0:0.9193:0.0	.	626;598;1093;1037	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	R	1037;1093;626;598	ENSP00000247226:G1037R;ENSP00000378183:G1093R;ENSP00000450945:G626R;ENSP00000450973:G598R	ENSP00000247226:G1037R	G	+	1	0	PLEKHG3	64279791	0.008000	0.16893	0.002000	0.10522	0.009000	0.06853	0.575000	0.23729	1.205000	0.43262	0.655000	0.94253	GGC		0.736	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		5	17	0	0	0	0.001168	0	5	17				
RGS6	9628	broad.mit.edu	37	14	72939587	72939587	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:72939587C>A	ENST00000553530.1	+	9	751	c.544C>A	c.(544-546)Cgg>Agg	p.R182R	RGS6_ENST00000402788.2_Silent_p.R182R|RGS6_ENST00000343854.6_Silent_p.R182R|RGS6_ENST00000406236.4_Silent_p.R182R|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000355512.6_Silent_p.R182R|RGS6_ENST00000407322.4_Silent_p.R182R|RGS6_ENST00000555571.1_Silent_p.R182R|RGS6_ENST00000556437.1_Silent_p.R182R|RGS6_ENST00000434263.2_Silent_p.R113R|RGS6_ENST00000404301.2_Silent_p.R182R|RGS6_ENST00000554782.1_Silent_p.R43R|RGS6_ENST00000553525.1_Silent_p.R182R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	182					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R182R(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGGATTGACCGGAAAAAAGA	0.448																																					Ovarian(143;1926 2468 21071 48641)	Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(544-546)CGG>AGG		regulator of G-protein signalling 6							125.0	140.0	135.0					14																	72939587		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72939587C>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.544C>A	14.37:g.72939587C>A						RGS6_uc010ttn.1_Silent_p.R182R|RGS6_uc001xmx.3_Silent_p.R182R|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.R182R|RGS6_uc010ttp.1_Silent_p.R113R|RGS6_uc001xmz.1_Silent_p.R43R|RGS6_uc010arg.2_RNA	p.R182R	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	9	1067	+			182					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.544C>A	CCDS9808.1																																																																																				0.448	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			11	106	1	0	5.50884e-06	0.001368	7.18716e-06	11	106				
ACOT6	641372	broad.mit.edu	37	14	74086211	74086211	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:74086211G>C	ENST00000381139.1	+	2	623	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	98						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)	p.E98Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGTTCCATTGGAAAAGGCGCA	0.423																																							uc001xop.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(292-294)GAA>CAA		acyl-CoA thioesterase 6							87.0	84.0	85.0					14																	74086211		2203	4300	6503	SO:0001583	missense	641372					cytosol	carboxylesterase activity	g.chr14:74086211G>C	DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.292G>C	14.37:g.74086211G>C	ENSP00000370531:p.Glu98Gln						p.E98Q	NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	623	+			98						Missense_Mutation	SNP	ENST00000381139.1	37	c.292G>C	CCDS32118.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735391	0.89482	.	.	ENSG00000205669	ENST00000554229;ENST00000381139	T;T	0.49432	0.78;0.78	5.8	5.8	0.92144	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.112218	0.64402	D	0.000013	T	0.74122	0.3675	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76997	-0.2751	10	0.72032	D	0.01	-13.6961	20.0505	0.97625	0.0:0.0:1.0:0.0	.	98	Q3I5F7	ACOT6_HUMAN	Q	98	ENSP00000451464:E98Q;ENSP00000370531:E98Q	ENSP00000370531:E98Q	E	+	1	0	ACOT6	73155964	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.047000	0.93823	2.739000	0.93911	0.561000	0.74099	GAA		0.423	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414437.1	NM_001037162		12	68	0	0	0	0.000978	0	12	68				
KCNK13	56659	broad.mit.edu	37	14	90650807	90650807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:90650807C>A	ENST00000282146.4	+	2	1128	c.687C>A	c.(685-687)taC>taA	p.Y229*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	229					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.Y229*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACTCACTCTACTTCTGTTTTG	0.537																																							uc001xye.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(685-687)TAC>TAA		potassium channel, subfamily K, member 13							147.0	129.0	135.0					14																	90650807		2203	4300	6503	SO:0001587	stop_gained	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650807C>A	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.687C>A	14.37:g.90650807C>A	ENSP00000282146:p.Tyr229*						p.Y229*	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1129	+		all_cancers(154;0.186)	229					B5TJL8|Q96E79	Nonsense_Mutation	SNP	ENST00000282146.4	37	c.687C>A	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	38	6.652340	0.97734	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.31	4.3	0.51218	.	0.000000	0.37437	N	0.002088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1271	0.25477	0.0:0.7317:0.0:0.2683	.	.	.	.	X	229	.	ENSP00000282146:Y229X	Y	+	3	2	KCNK13	89720560	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	1.622000	0.36997	2.476000	0.83614	0.655000	0.94253	TAC		0.537	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		9	63	1	0	0.00621372	0.006214	0.00666704	9	63				
SYNE3	161176	broad.mit.edu	37	14	95912351	95912351	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:95912351G>T	ENST00000334258.5	-	8	1541	c.1527C>A	c.(1525-1527)atC>atA	p.I509I	SYNE3_ENST00000557275.1_Silent_p.I509I|SYNE3_ENST00000553340.1_Silent_p.I509I|SYNE3_ENST00000554873.1_Silent_p.I266I	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	509					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.I509I(3)		breast(1)|endometrium(2)|lung(25)	28						CCTGGCCAAAGATGCCAATCA	0.577																																							uc001yei.3		NA																	3	Substitution - coding silent(3)		lung(3)	central_nervous_system(1)	1						c.(1525-1527)ATC>ATA		nesprin-3							128.0	126.0	127.0					14																	95912351		2203	4300	6503	SO:0001819	synonymous_variant	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95912351G>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1527C>A	14.37:g.95912351G>T						C14orf49_uc010avi.2_Silent_p.I509I|C14orf49_uc001yej.1_Silent_p.I509I	p.I509I	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	8	1542	-		all_cancers(154;0.0937)	509			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.1527C>A	CCDS9935.1																																																																																				0.577	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		25	66	1	0	3.08376e-08	0.00333	4.56297e-08	25	66				
CYP46A1	10858	broad.mit.edu	37	14	100182205	100182205	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:100182205G>T	ENST00000261835.3	+	8	856	c.752G>T	c.(751-753)cGc>cTc	p.R251L	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R154L|CYP46A1_ENST00000554176.1_Missense_Mutation_p.R98L	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	251					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.R251L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CGCTTCCTGCGCCAGGTGGGC	0.612																																							uc001ygo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(751-753)CGC>CTC		cytochrome P450, family 46							33.0	37.0	36.0					14																	100182205		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100182205G>T	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.752G>T	14.37:g.100182205G>T	ENSP00000261835:p.Arg251Leu					CYP46A1_uc001ygp.2_Missense_Mutation_p.R98L	p.R251L	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			8	752	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	251					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.752G>T	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276762	0.80580	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176;ENST00000556313	T;T;T;T	0.78924	-0.34;-0.34;-0.34;-1.22	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.85775	0.5775	M	0.66939	2.045	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87004	0.2118	10	0.72032	D	0.01	.	13.1522	0.59496	0.0:0.0:1.0:0.0	.	98;251	Q8N2B0;Q9Y6A2	.;CP46A_HUMAN	L	251;154;98;4	ENSP00000261835:R251L;ENSP00000405779:R154L;ENSP00000450553:R98L;ENSP00000451602:R4L	ENSP00000261835:R251L	R	+	2	0	CYP46A1	99251958	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.893000	0.69798	2.371000	0.80710	0.561000	0.74099	CGC		0.612	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			4	30	1	0	0.00909568	0.009096	0.00969496	4	30				
SLC25A47	283600	broad.mit.edu	37	14	100795129	100795129	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:100795129C>G	ENST00000361529.3	+	5	472	c.394C>G	c.(394-396)Cag>Gag	p.Q132E	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	132					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Q132E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCGCAGAAGCAGCAGCGGCG	0.672																																					GBM(11;1289 1351)		uc001yhc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(394-396)CAG>GAG		chromosome 14 open reading frame 68							25.0	26.0	26.0					14																	100795129		2159	4204	6363	SO:0001583	missense	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795129C>G		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.394C>G	14.37:g.100795129C>G	ENSP00000354886:p.Gln132Glu					C14orf68_uc001yhd.2_5'UTR	p.Q132E	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			5	467	+		Melanoma(154;0.152)	132			Solcar 2.		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	c.394C>G	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588308	0.03799	.	.	ENSG00000140107	ENST00000361529	T	0.80994	-1.44	3.82	3.82	0.43975	Mitochondrial carrier domain (2);	6.220900	0.00907	N	0.002431	T	0.73297	0.3569	L	0.28504	0.86	0.51012	D	0.999902	B	0.24651	0.108	B	0.26614	0.071	T	0.48068	-0.9067	10	0.09590	T	0.72	.	11.2196	0.48846	0.0:1.0:0.0:0.0	.	132	Q6Q0C1	S2547_HUMAN	E	132	ENSP00000354886:Q132E	ENSP00000354886:Q132E	Q	+	1	0	SLC25A47	99864882	0.003000	0.15002	0.646000	0.29493	0.282000	0.26991	0.359000	0.20233	1.679000	0.50963	0.313000	0.20887	CAG		0.672	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			4	25	0	0	0	0.009096	0	4	25				
CINP	51550	broad.mit.edu	37	14	102825902	102825902	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:102825902C>A	ENST00000216756.6	-	2	70	c.30G>T	c.(28-30)acG>acT	p.T10T	snoU13_ENST00000458912.1_RNA|CINP_ENST00000536961.2_Silent_p.T25T|CINP_ENST00000541568.2_Silent_p.T10T	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	10					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)		p.T10T(1)		large_intestine(2)|lung(2)	4						GTTTTCTGGGCGTTACAGTTC	0.373																																							uc001ylv.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(28-30)ACG>ACT		cyclin-dependent kinase 2-interacting protein							108.0	100.0	103.0					14																	102825902		2203	4300	6503	SO:0001819	synonymous_variant	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102825902C>A	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.30G>T	14.37:g.102825902C>A						CINP_uc001ylu.1_RNA	p.T10T	NM_032630	NP_116019	Q9BW66	CINP_HUMAN			2	95	-			10					F5H7P3|F5H8A7|Q9NPF9	Silent	SNP	ENST00000216756.6	37	c.30G>T	CCDS9972.1																																																																																				0.373	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		10	61	1	0	3.03607e-14	0.001368	5.20061e-14	10	61				
GPR132	29933	broad.mit.edu	37	14	105518256	105518256	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:105518256T>A	ENST00000329797.3	-	4	1129	c.218A>T	c.(217-219)cAg>cTg	p.Q73L	GPR132_ENST00000539291.2_Missense_Mutation_p.Q73L|GPR132_ENST00000392585.2_Missense_Mutation_p.Q64L|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	73					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CACGTTGCCCTGCAGTACCTG	0.642																																							uc001yqd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(217-219)CAG>CTG		G protein-coupled receptor 132							63.0	60.0	61.0					14																	105518256		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518256T>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.218A>T	14.37:g.105518256T>A	ENSP00000328818:p.Gln73Leu					GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.Q64L	p.Q73L	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1117	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	73			Cytoplasmic (Potential).		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.218A>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844184	0.51164	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.25749	1.78;1.78;1.78	4.83	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.149836	0.43579	D	0.000558	T	0.36138	0.0956	L	0.56280	1.765	0.09310	N	1	D;D	0.63046	0.992;0.992	D;D	0.65323	0.934;0.934	T	0.13469	-1.0508	10	0.25751	T	0.34	.	6.9092	0.24325	0.0:0.3926:0.0:0.6074	.	64;73	B4E144;Q9UNW8	.;GP132_HUMAN	L	73;64;73	ENSP00000328818:Q73L;ENSP00000376364:Q64L;ENSP00000438094:Q73L	ENSP00000328818:Q73L	Q	-	2	0	GPR132	104589301	0.322000	0.24634	0.773000	0.31616	0.488000	0.33401	1.193000	0.32162	0.223000	0.20920	0.379000	0.24179	CAG		0.642	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		14	53	0	0	0	0.003163	0	14	53				
NPAP1	23742	broad.mit.edu	37	15	24921212	24921212	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:24921212C>A	ENST00000329468.2	+	1	672	c.198C>A	c.(196-198)gtC>gtA	p.V66V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	66					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V66V(2)									GCATCTTCGTCGCCCCTAAGA	0.721																																							uc001ywo.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(196-198)GTC>GTA		hypothetical protein LOC23742							18.0	22.0	20.0					15																	24921212		2194	4279	6473	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921212C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.198C>A	15.37:g.24921212C>A							p.V66V	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	672	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	66						Silent	SNP	ENST00000329468.2	37	c.198C>A	CCDS10015.1																																																																																				0.721	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		10	18	1	0	6.40141e-05	0.000978	7.85211e-05	10	18				
NPAP1	23742	broad.mit.edu	37	15	24923342	24923342	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:24923342C>A	ENST00000329468.2	+	1	2802	c.2328C>A	c.(2326-2328)gcC>gcA	p.A776A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	776					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A776A(1)									AATTTGGGGCCCCTGATGGGC	0.552																																							uc001ywo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2326-2328)GCC>GCA		hypothetical protein LOC23742							109.0	128.0	121.0					15																	24923342		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923342C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2328C>A	15.37:g.24923342C>A							p.A776A	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2802	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	776						Silent	SNP	ENST00000329468.2	37	c.2328C>A	CCDS10015.1																																																																																				0.552	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		40	104	1	0	8.20599e-20	0.002852	1.51623e-19	40	104				
NPAP1	23742	broad.mit.edu	37	15	24924327	24924327	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:24924327G>A	ENST00000329468.2	+	1	3787	c.3313G>A	c.(3313-3315)Gat>Aat	p.D1105N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1105					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D1105N(1)									TATGGGAGGGGATGGCACCAG	0.493																																							uc001ywo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(3313-3315)GAT>AAT		hypothetical protein LOC23742							146.0	126.0	132.0					15																	24924327		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24924327G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3313G>A	15.37:g.24924327G>A	ENSP00000333735:p.Asp1105Asn						p.D1105N	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3787	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	1105						Missense_Mutation	SNP	ENST00000329468.2	37	c.3313G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	5.942	0.357799	0.11239	.	.	ENSG00000185823	ENST00000329468	T	0.07567	3.18	1.42	-2.13	0.07144	.	.	.	.	.	T	0.03959	0.0111	N	0.22421	0.69	0.09310	N	1	B	0.27166	0.17	B	0.15052	0.012	T	0.41734	-0.9492	9	0.27785	T	0.31	.	2.0016	0.03468	0.3808:0.0:0.3605:0.2587	.	1105	Q9NZP6	CO002_HUMAN	N	1105	ENSP00000333735:D1105N	ENSP00000333735:D1105N	D	+	1	0	C15orf2	22475420	0.001000	0.12720	0.000000	0.03702	0.104000	0.19210	0.003000	0.13083	-0.691000	0.05135	0.313000	0.20887	GAT		0.493	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		38	65	0	0	0	0.003755	0	38	65				
HERC2	8924	broad.mit.edu	37	15	28463681	28463681	+	Silent	SNP	G	G	A	rs376870436		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:28463681G>A	ENST00000261609.7	-	38	6090	c.5982C>T	c.(5980-5982)tgC>tgT	p.C1994C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.C1994C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGCAGTCCGCATAAAGTCT	0.517																																							uc001zbj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5980-5982)TGC>TGT		hect domain and RLD 2		G		1,2789		0,1,1394	129.0	145.0	139.0		5982	0.3	1.0	15		139	0,4764		0,0,2382	no	coding-synonymous	HERC2	NM_004667.4		0,1,3776	AA,AG,GG		0.0,0.0358,0.0132		1994/4835	28463681	1,7553	1395	2382	3777	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28463681G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5982C>T	15.37:g.28463681G>A							p.C1994C	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	6088	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1994						Silent	SNP	ENST00000261609.7	37	c.5982C>T	CCDS10021.1																																																																																				0.517	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	95	0	0	0	0.009096	0	4	95				
RYR3	6263	broad.mit.edu	37	15	33916196	33916196	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:33916196T>C	ENST00000389232.4	+	20	2616	c.2546T>C	c.(2545-2547)tTc>tCc	p.F849S	RYR3_ENST00000415757.3_Missense_Mutation_p.F849S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	849	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.F849S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGCCTCTTTCATCCCATGC	0.438																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(2545-2547)TTC>TCC		ryanodine receptor 3							155.0	148.0	150.0					15																	33916196		1863	4110	5973	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33916196T>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2546T>C	15.37:g.33916196T>C	ENSP00000373884:p.Phe849Ser					RYR3_uc010bar.2_Missense_Mutation_p.F849S	p.F849S	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	20	2616	+		all_lung(180;7.18e-09)	849			4 X approximate repeats.|1.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2546T>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413862	0.83449	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95137	-3.62;-3.62	4.86	4.86	0.63082	Ryanodine receptor Ryr (1);	0.185959	0.47093	D	0.000243	D	0.95121	0.8419	M	0.87456	2.885	0.80722	D	1	B;B	0.22983	0.05;0.078	B;B	0.30029	0.033;0.11	D	0.94428	0.7647	10	0.87932	D	0	.	14.599	0.68427	0.0:0.0:0.0:1.0	.	849;849	Q15413-2;Q15413	.;RYR3_HUMAN	S	849	ENSP00000373884:F849S;ENSP00000399610:F849S	ENSP00000354735:F849S	F	+	2	0	RYR3	31703488	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.782000	0.85680	2.038000	0.60285	0.460000	0.39030	TTC		0.438	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			43	59	0	0	0	0.00361	0	43	59				
RYR3	6263	broad.mit.edu	37	15	33925287	33925287	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:33925287G>A	ENST00000389232.4	+	24	3075	c.3005G>A	c.(3004-3006)gGa>gAa	p.G1002E	RYR3_ENST00000415757.3_Missense_Mutation_p.G1002E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1002	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G1002E(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATAAAACAAGGATGGACCTAT	0.413																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3004-3006)GGA>GAA		ryanodine receptor 3							89.0	81.0	84.0					15																	33925287		1889	4111	6000	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33925287G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3005G>A	15.37:g.33925287G>A	ENSP00000373884:p.Gly1002Glu					RYR3_uc010bar.2_Missense_Mutation_p.G1002E	p.G1002E	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	24	3075	+		all_lung(180;7.18e-09)	1002			2.|4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3005G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953028	0.92660	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.93763	-3.28;-3.28	5.41	5.41	0.78517	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.97523	0.9189	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97799	1.0243	10	0.66056	D	0.02	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	1002;1002	Q15413-2;Q15413	.;RYR3_HUMAN	E	1002	ENSP00000373884:G1002E;ENSP00000399610:G1002E	ENSP00000354735:G1002E	G	+	2	0	RYR3	31712579	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.483000	0.97937	2.814000	0.96858	0.591000	0.81541	GGA		0.413	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			12	24	0	0	0	0.001855	0	12	24				
RYR3	6263	broad.mit.edu	37	15	33991970	33991970	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:33991970G>C	ENST00000389232.4	+	41	6385	c.6315G>C	c.(6313-6315)cgG>cgC	p.R2105R	RYR3_ENST00000415757.3_Silent_p.R2105R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2105	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R2105R(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAATTAGCCGGCAAAATCAGA	0.433																																							uc001zhi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6313-6315)CGG>CGC		ryanodine receptor 3							115.0	106.0	109.0					15																	33991970		1906	4138	6044	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33991970G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6315G>C	15.37:g.33991970G>C						RYR3_uc010bar.2_Silent_p.R2105R	p.R2105R	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	41	6385	+		all_lung(180;7.18e-09)	2105			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6315G>C	CCDS45210.1																																																																																				0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	15	0	0	0	0.004482	0	8	15				
RYR3	6263	broad.mit.edu	37	15	34115218	34115218	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:34115218G>C	ENST00000389232.4	+	81	11087	c.11017G>C	c.(11017-11019)Gag>Cag	p.E3673Q	RYR3_ENST00000415757.3_Missense_Mutation_p.E3668Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3673					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E3672Q(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTACCTAAAGGAGAAAAAGGA	0.423																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(11017-11019)GAG>CAG		ryanodine receptor 3							110.0	105.0	106.0					15																	34115218		1841	4107	5948	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34115218G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11017G>C	15.37:g.34115218G>C	ENSP00000373884:p.Glu3673Gln					RYR3_uc010bar.2_Missense_Mutation_p.E3668Q	p.E3673Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	81	11087	+		all_lung(180;7.18e-09)	3673					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11017G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929919	0.73327	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.89810	-2.57	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.93884	0.8043	M	0.66939	2.045	0.58432	D	0.999993	D;D	0.76494	0.998;0.999	D;D	0.77557	0.99;0.968	D	0.93515	0.6856	10	0.54805	T	0.06	.	19.2535	0.93935	0.0:0.0:1.0:0.0	.	3668;3673	Q15413-2;Q15413	.;RYR3_HUMAN	Q	3673;3672;3668	ENSP00000373884:E3673Q	ENSP00000354735:E3668Q	E	+	1	0	RYR3	31902510	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.601000	0.98297	2.780000	0.95670	0.655000	0.94253	GAG		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			18	24	0	0	0	0.010504	0	18	24				
ACTC1	70	broad.mit.edu	37	15	35083397	35083397	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:35083397C>A	ENST00000290378.4	-	6	1563	c.908G>T	c.(907-909)gGa>gTa	p.G303V	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	303					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.G303V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGTGGTGCCTCCAGATAAGAC	0.438																																							uc001ziu.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(907-909)GGA>GTA		cardiac muscle alpha actin 1 proprotein							325.0	283.0	297.0					15																	35083397		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35083397C>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.908G>T	15.37:g.35083397C>A	ENSP00000290378:p.Gly303Val					uc001zit.1_Intron	p.G303V	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	6	1151	-		all_lung(180;2.3e-08)	303					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.908G>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999165	0.74818	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.99940	-8.38	5.49	5.49	0.81192	.	0.000000	0.52532	U	0.000073	D	0.99966	0.9987	H	0.99881	4.885	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.96447	0.9331	10	0.87932	D	0	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	303	P68032	ACTC_HUMAN	V	303;268	ENSP00000290378:G303V	ENSP00000290378:G303V	G	-	2	0	ACTC1	32870689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.736000	0.93811	0.655000	0.94253	GGA		0.438	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		42	85	1	0	1.57019e-19	0.007835	2.88662e-19	42	85				
BUB1B	701	broad.mit.edu	37	15	40462321	40462321	+	Splice_Site	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:40462321A>T	ENST00000287598.6	+	3	433	c.238A>T	c.(238-240)Agg>Tgg	p.R80W	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.R80W	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	80	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R80W(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTTTGGGATAGGTGGGTCTT	0.363			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														uc001zkx.3		NA	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(238-240)AGG>TGG		budding uninhibited by benzimidazoles 1 beta							103.0	104.0	103.0					15																	40462321		2203	4300	6503	SO:0001630	splice_region_variant	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40462321A>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.239+1A>T	15.37:g.40462321A>T							p.R80W	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	3	450	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	80			BUB1 N-terminal.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.238A>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149398	0.78001	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.66638	-0.22;2.37	5.01	5.01	0.66863	Mad3/BUB1 homology region 1 (3);	0.000000	0.85682	D	0.000000	D	0.84211	0.5422	M	0.91249	3.19	0.52099	D	0.999942	D	0.89917	1.0	D	0.97110	1.0	D	0.87407	0.2373	10	0.87932	D	0	.	11.9459	0.52928	0.8552:0.1448:0.0:0.0	.	80	O60566	BUB1B_HUMAN	W	80	ENSP00000287598:R80W;ENSP00000398470:R80W	ENSP00000287598:R80W	R	+	1	2	BUB1B	38249613	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.719000	0.47244	1.888000	0.54679	0.374000	0.22700	AGG		0.363	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		Missense_Mutation	25	40	0	0	0	0.005443	0	25	40				
UBR1	197131	broad.mit.edu	37	15	43348568	43348568	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:43348568C>A	ENST00000290650.4	-	11	1333	c.1255G>T	c.(1255-1257)Gtt>Ttt	p.V419F	UBR1_ENST00000382177.2_Missense_Mutation_p.V419F	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	419					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V419F(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AACATCTGAACTGAAAGTGCA	0.294																																							uc001zqq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1255-1257)GTT>TTT		ubiquitin protein ligase E3 component n-recognin							117.0	121.0	120.0					15																	43348568		2202	4298	6500	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43348568C>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1255G>T	15.37:g.43348568C>A	ENSP00000290650:p.Val419Phe					UBR1_uc010udk.1_Missense_Mutation_p.V419F	p.V419F	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	11	1321	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	419					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.1255G>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892784	0.91889	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.79141	-0.47;-1.24	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.89259	0.6664	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.90363	0.4375	10	0.72032	D	0.01	-10.393	18.7978	0.92003	0.0:1.0:0.0:0.0	.	419;419	B4DYL2;Q8IWV7	.;UBR1_HUMAN	F	419	ENSP00000290650:V419F;ENSP00000371612:V419F	ENSP00000290650:V419F	V	-	1	0	UBR1	41135860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.248000	0.78268	2.675000	0.91044	0.650000	0.86243	GTT		0.294	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		40	34	1	0	5.44703e-19	0.009718	9.97594e-19	40	34				
MYEF2	50804	broad.mit.edu	37	15	48441490	48441490	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:48441490C>T	ENST00000324324.7	-	15	1736	c.1457G>A	c.(1456-1458)aGa>aAa	p.R486K	MYEF2_ENST00000267836.6_Missense_Mutation_p.R462K	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	486	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R486K(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGGTCCCATTCTATCAAAGCT	0.493																																							uc001zwi.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1456-1458)AGA>AAA		myelin expression factor 2							120.0	115.0	117.0					15																	48441490		2198	4296	6494	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48441490C>T	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1457G>A	15.37:g.48441490C>T	ENSP00000316950:p.Arg486Lys					MYEF2_uc001zwg.3_Missense_Mutation_p.R24K|MYEF2_uc001zwh.3_Missense_Mutation_p.R74K|MYEF2_uc001zwj.3_Missense_Mutation_p.R462K	p.R486K	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	15	1581	-		all_lung(180;0.00217)	486			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1457G>A	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392871	0.83011	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.46819	0.86;0.86	4.9	4.9	0.64082	.	0.099447	0.64402	D	0.000002	T	0.66025	0.2748	L	0.58810	1.83	0.58432	D	0.999999	D;P	0.56035	0.974;0.956	D;D	0.70487	0.969;0.931	T	0.65232	-0.6218	10	0.48119	T	0.1	-20.1159	18.9684	0.92706	0.0:1.0:0.0:0.0	.	462;486	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	K	486;462;74	ENSP00000316950:R486K;ENSP00000267836:R462K	ENSP00000267836:R462K	R	-	2	0	MYEF2	46228782	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.304000	0.78882	2.657000	0.90304	0.585000	0.79938	AGA		0.493	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		23	42	0	0	0	0.003954	0	23	42				
SLC12A1	6557	broad.mit.edu	37	15	48566838	48566838	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:48566838C>A	ENST00000558405.1	+	19	2487	c.2473C>A	c.(2473-2475)Ctt>Att	p.L825I	SLC12A1_ENST00000396577.3_Missense_Mutation_p.L825I|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L825I			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	825					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.L825I(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCTCAGGTTCTTCAGGTGCA	0.408																																							uc001zwn.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2473-2475)CTT>ATT		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						129.0	113.0	119.0					15																	48566838		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48566838C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2473C>A	15.37:g.48566838C>A	ENSP00000453409:p.Leu825Ile					SLC12A1_uc010uew.1_Missense_Mutation_p.L631I|SLC12A1_uc001zwq.3_Missense_Mutation_p.L596I|SLC12A1_uc001zwr.3_Missense_Mutation_p.L552I	p.L825I	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	20	2689	+		all_lung(180;0.00219)	825			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2473C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984816	0.53934	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.93906	-3.31;-3.31	5.9	5.9	0.94986	.	0.432872	0.25628	N	0.029364	D	0.89121	0.6625	N	0.21545	0.675	0.47245	D	0.999368	B;B	0.17268	0.021;0.009	B;B	0.16289	0.007;0.015	T	0.83158	-0.0100	10	0.29301	T	0.29	.	19.8787	0.96886	0.0:1.0:0.0:0.0	.	825;825	E9PDW4;Q13621	.;S12A1_HUMAN	I	825	ENSP00000370381:L825I;ENSP00000379822:L825I	ENSP00000370381:L825I	L	+	1	0	SLC12A1	46354130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.535000	0.53575	2.800000	0.96347	0.591000	0.81541	CTT		0.408	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			9	12	1	0	5.4927e-09	0.004482	8.34799e-09	9	12				
HDC	3067	broad.mit.edu	37	15	50534961	50534961	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:50534961C>T	ENST00000267845.3	-	12	1887	c.1485G>A	c.(1483-1485)agG>agA	p.R495R	HDC_ENST00000543581.1_Silent_p.R462R|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.R495R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CTCTGGCACCCCTGATTTGGG	0.577																																					GBM(95;1627 1936 6910 9570)	GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1483-1485)AGG>AGA		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						47.0	50.0	49.0					15																	50534961		2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534961C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1485G>A	15.37:g.50534961C>T						HDC_uc001zxy.2_Silent_p.R238R|HDC_uc010uff.1_Silent_p.R462R	p.R495R	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1591	-		all_lung(180;0.0138)	495						Silent	SNP	ENST00000267845.3	37	c.1485G>A	CCDS10134.1																																																																																				0.577	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			10	30	0	0	0	0.008291	0	10	30				
UNC13C	440279	broad.mit.edu	37	15	54306940	54306940	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:54306940C>G	ENST00000260323.11	+	1	1840	c.1840C>G	c.(1840-1842)Caa>Gaa	p.Q614E	UNC13C_ENST00000545554.1_Missense_Mutation_p.Q614E|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q614E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	614					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.Q614E(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCAGGGTATCCAAGGGCAGAC	0.493																																							uc002ack.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(1840-1842)CAA>GAA		unc-13 homolog C							147.0	142.0	144.0					15																	54306940		2020	4187	6207	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306940C>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1840C>G	15.37:g.54306940C>G	ENSP00000260323:p.Gln614Glu						p.Q614E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1840	+			614					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1840C>G	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	7.443	0.641014	0.14386	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.77750	-1.12;-1.12;-1.12	5.16	4.24	0.50183	.	.	.	.	.	T	0.58595	0.2133	N	0.14661	0.345	0.19575	N	0.999968	B	0.17667	0.023	B	0.13407	0.009	T	0.31052	-0.9957	9	0.05351	T	0.99	.	12.748	0.57291	0.0:0.921:0.0:0.079	.	614	Q8NB66	UN13C_HUMAN	E	614	ENSP00000260323:Q614E;ENSP00000438156:Q614E;ENSP00000442569:Q614E	ENSP00000260323:Q614E	Q	+	1	0	UNC13C	52094232	0.598000	0.26882	0.007000	0.13788	0.809000	0.45718	1.197000	0.32211	1.392000	0.46585	0.650000	0.86243	CAA		0.493	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		25	38	0	0	0	0.005443	0	25	38				
TLN2	83660	broad.mit.edu	37	15	63063229	63063229	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:63063229C>G	ENST00000561311.1	+	41	5493	c.5263C>G	c.(5263-5265)Ctt>Gtt	p.L1755V	TLN2_ENST00000472902.1_Missense_Mutation_p.L148V|TLN2_ENST00000306829.6_Missense_Mutation_p.L1755V			Q9Y4G6	TLN2_HUMAN	talin 2	1755					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L1755V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTCCAAGATTCTTGATCATCA	0.478																																							uc002alb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(5263-5265)CTT>GTT		talin 2							127.0	117.0	120.0					15																	63063229		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63063229C>G	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5263C>G	15.37:g.63063229C>G	ENSP00000453508:p.Leu1755Val					TLN2_uc002alc.3_Missense_Mutation_p.L148V|TLN2_uc002ald.2_Missense_Mutation_p.L148V	p.L1755V	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			39	5263	+			1755					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5263C>G	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	1.031	-0.681903	0.03353	.	.	ENSG00000171914	ENST00000306829	T	0.13420	2.59	5.39	4.34	0.51931	.	0.130032	0.51477	D	0.000091	T	0.08758	0.0217	L	0.37750	1.13	0.38704	D	0.953052	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12041	-1.0563	10	0.05833	T	0.94	-12.728	7.854	0.29472	0.1509:0.7485:0.0:0.1006	.	799;1755	G1UI21;Q9Y4G6	.;TLN2_HUMAN	V	1755	ENSP00000303476:L1755V	ENSP00000303476:L1755V	L	+	1	0	TLN2	60850521	0.175000	0.23083	0.997000	0.53966	0.989000	0.77384	0.397000	0.20883	1.252000	0.44001	0.655000	0.94253	CTT		0.478	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			21	47	0	0	0	0.00278	0	21	47				
IGDCC4	57722	broad.mit.edu	37	15	65682616	65682616	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:65682616C>G	ENST00000352385.2	-	13	2494	c.2285G>C	c.(2284-2286)aGc>aCc	p.S762T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	762	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S762T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGATGTGGAGCTGTTTGATTC	0.552																																							uc002aou.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2284-2286)AGC>ACC		immunoglobulin superfamily, DCC subclass, member							93.0	78.0	83.0					15																	65682616		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65682616C>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2285G>C	15.37:g.65682616C>G	ENSP00000319623:p.Ser762Thr					IGDCC4_uc002aot.1_Missense_Mutation_p.S350T	p.S762T	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			13	2495	-			762			Fibronectin type-III 4.|Extracellular (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2285G>C	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262103	0.80358	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.55234	0.53	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.042479	0.85682	D	0.000000	T	0.67335	0.2882	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.59392	-0.7463	10	0.09338	T	0.73	-25.5493	19.603	0.95570	0.0:1.0:0.0:0.0	.	762	Q8TDY8	IGDC4_HUMAN	T	762;491	ENSP00000319623:S762T	ENSP00000319623:S762T	S	-	2	0	IGDCC4	63469669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.644000	0.89710	0.655000	0.94253	AGC		0.552	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		11	25	0	0	0	0.000978	0	11	25				
RPL4	6124	broad.mit.edu	37	15	66792653	66792653	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:66792653G>T	ENST00000307961.6	-	8	987	c.895C>A	c.(895-897)Caa>Aaa	p.Q299K	RPL4_ENST00000568588.1_Missense_Mutation_p.Q205K|SNAPC5_ENST00000316634.5_5'Flank|SNAPC5_ENST00000563480.2_5'Flank|SNORD18A_ENST00000363753.1_RNA|SNAPC5_ENST00000395589.2_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD16_ENST00000362803.1_RNA|SNAPC5_ENST00000566658.1_5'Flank|SNAPC5_ENST00000307979.7_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	299					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.Q299K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						AGGGCTCTTTGGATCTCTGGG	0.378																																							uc002apv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(895-897)CAA>AAA		ribosomal protein L4							103.0	98.0	100.0					15																	66792653		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66792653G>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.895C>A	15.37:g.66792653G>T	ENSP00000311430:p.Gln299Lys					SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Missense_Mutation_p.Q205K|RPL4_uc002apw.2_Missense_Mutation_p.Q205K|RPL4_uc002apx.2_Missense_Mutation_p.Q205K	p.Q299K	NM_000968	NP_000959	P36578	RL4_HUMAN			8	951	-			299					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.895C>A	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942384	0.73672	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.27	5.27	0.74061	.	0.059577	0.64402	D	0.000001	T	0.70439	0.3224	M	0.81239	2.535	0.80722	D	1	B	0.18741	0.03	B	0.15484	0.013	T	0.69446	-0.5143	9	0.51188	T	0.08	-22.0834	17.9174	0.88955	0.0:0.0:1.0:0.0	.	299	P36578	RL4_HUMAN	K	299	.	ENSP00000311430:Q299K	Q	-	1	0	RPL4	64579707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.457000	0.80775	2.461000	0.83175	0.655000	0.94253	CAA		0.378	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		25	46	1	0	3.7963e-18	0.00333	6.90065e-18	25	46				
CORO2B	10391	broad.mit.edu	37	15	69011535	69011535	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:69011535C>A	ENST00000566799.1	+	10	1162	c.1133C>A	c.(1132-1134)gCa>gAa	p.A378E	CORO2B_ENST00000540068.1_Missense_Mutation_p.A373E|CORO2B_ENST00000261861.5_Missense_Mutation_p.A373E|CORO2B_ENST00000543950.1_Missense_Mutation_p.A373E			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	378					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.A378E(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACGGAGCCAGCACTGACCCCG	0.607																																							uc002arj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1132-1134)GCA>GAA		coronin, actin binding protein, 2B							94.0	91.0	92.0					15																	69011535		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69011535C>A	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1133C>A	15.37:g.69011535C>A	ENSP00000454783:p.Ala378Glu					CORO2B_uc010bic.2_Missense_Mutation_p.A373E|CORO2B_uc002ark.2_Missense_Mutation_p.A145E	p.A378E	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN			10	1162	+			378					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.1133C>A	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	31	5.058460	0.93846	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.32988	1.43;1.43	5.46	5.46	0.80206	Domain of unknown function DUF1900 (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.64266	-0.6448	10	0.87932	D	0	-14.0065	17.8564	0.88765	0.0:1.0:0.0:0.0	.	378	Q9UQ03	COR2B_HUMAN	E	378;373;373	ENSP00000446250:A373E;ENSP00000443819:A373E	ENSP00000261861:A378E	A	+	2	0	CORO2B	66798589	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.395000	0.79876	2.565000	0.86533	0.313000	0.20887	GCA		0.607	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		18	31	1	0	1.15919e-05	0.008871	1.48965e-05	18	31				
CCDC33	80125	broad.mit.edu	37	15	74623568	74623568	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:74623568C>T	ENST00000398814.3	+	15	2133	c.1702C>T	c.(1702-1704)Ctg>Ttg	p.L568L	CCDC33_ENST00000321288.5_Silent_p.L771L|CCDC33_ENST00000558821.1_Silent_p.L161L|CCDC33_ENST00000268082.4_Silent_p.L161L	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	771								p.L568L(2)|p.L161L(2)|p.L771L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGAGCGGGTGCTGGAGGACAG	0.647																																							uc002axo.2		NA																	5	Substitution - coding silent(5)		lung(5)	ovary(3)|skin(2)	5						c.(1702-1704)CTG>TTG		coiled-coil domain containing 33 isoform 1							43.0	52.0	49.0					15																	74623568		2028	4195	6223	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74623568C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1702C>T	15.37:g.74623568C>T						CCDC33_uc002axp.2_Silent_p.L390L|CCDC33_uc002axq.2_Silent_p.L161L|CCDC33_uc002axr.2_Silent_p.L161L	p.L568L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			15	2096	+			771			Potential.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.1702C>T	CCDS42058.1																																																																																				0.647	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		4	17	0	0	0	0.001168	0	4	17				
LINGO1	84894	broad.mit.edu	37	15	77906791	77906791	+	Silent	SNP	G	G	A	rs199659139		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:77906791G>A	ENST00000355300.6	-	2	1632	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	LINGO1_ENST00000561030.1_Silent_p.Y480Y	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	486	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y480Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GTACCTGGGCGTAGCGCACCT	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17076	0.0		0.0	False		,,,				2504	0.0						uc002bct.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1456-1458)TAC>TAT		leucine-rich repeat neuronal 6A		G		2,4292		0,2,2145	28.0	30.0	29.0		1458	1.9	1.0	15		29	0,8452		0,0,4226	no	coding-synonymous	LINGO1	NM_032808.5		0,2,6371	AA,AG,GG		0.0,0.0466,0.0157		486/621	77906791	2,12744	2147	4226	6373	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906791G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1458C>T	15.37:g.77906791G>A						LINGO1_uc002bcu.1_Silent_p.Y480Y	p.Y486Y	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1510	-			486			Extracellular (Potential).|Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.1458C>T	CCDS45313.1																																																																																				0.667	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		11	22	0	0	0	0.000978	0	11	22				
AEN	64782	broad.mit.edu	37	15	89169735	89169735	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:89169735C>T	ENST00000332810.3	+	2	446	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	AEN_ENST00000379231.3_Missense_Mutation_p.P99S	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	99					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)	p.P99S(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAGGCCTGCTCCCGGGAAAGC	0.657																																							uc002bmt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(295-297)CCC>TCC		interferon stimulated exonuclease gene							49.0	54.0	53.0					15																	89169735		2200	4299	6499	SO:0001583	missense	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89169735C>T	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.295C>T	15.37:g.89169735C>T	ENSP00000331944:p.Pro99Ser					AEN_uc010bnl.2_Missense_Mutation_p.P99S|AEN_uc010bnm.1_Missense_Mutation_p.P99S	p.P99S	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN			2	446	+			99					C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	ENST00000332810.3	37	c.295C>T	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	C	9.386	1.074291	0.20227	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.18016	2.25;2.24	4.98	-0.765	0.11023	.	2.828320	0.01346	N	0.011757	T	0.10294	0.0252	L	0.32530	0.975	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.11329	0.006;0.004	T	0.14172	-1.0482	10	0.02654	T	1	-0.3691	1.85	0.03167	0.2323:0.4474:0.1132:0.207	.	99;99	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	S	99	ENSP00000331944:P99S;ENSP00000368533:P99S	ENSP00000331944:P99S	P	+	1	0	AEN	86970739	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.291000	0.08343	-0.108000	0.12066	-0.137000	0.14449	CCC		0.657	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		24	17	0	0	0	0.004656	0	24	17				
POLG	5428	broad.mit.edu	37	15	89866008	89866008	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:89866008C>G	ENST00000268124.5	-	14	2724	c.2391G>C	c.(2389-2391)atG>atC	p.M797I	POLG_ENST00000442287.2_Missense_Mutation_p.M797I	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	797					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.M797I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGAAAGAAATCATTTTGTTGA	0.597								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2389-2391)ATG>ATC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							130.0	134.0	133.0					15																	89866008		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89866008C>G	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2391G>C	15.37:g.89866008C>G	ENSP00000268124:p.Met797Ile					POLG_uc002bnr.3_Missense_Mutation_p.M797I	p.M797I	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		14	2673	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		797					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.2391G>C	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700457	0.68501	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.96745	-4.11;-4.11;-4.11	5.44	5.44	0.79542	DNA-directed DNA polymerase, family A, palm domain (1);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	L	0.61387	1.9	0.80722	D	1	P	0.47191	0.891	P	0.48952	0.596	D	0.95732	0.8775	10	0.38643	T	0.18	-30.7483	19.2607	0.93967	0.0:1.0:0.0:0.0	.	797	P54098	DPOG1_HUMAN	I	797;797;217	ENSP00000268124:M797I;ENSP00000399851:M797I;ENSP00000432389:M217I	ENSP00000268124:M797I	M	-	3	0	POLG	87667012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.459000	0.80802	2.576000	0.86940	0.561000	0.74099	ATG		0.597	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		103	105	0	0	0	0.00361	0	103	105				
MSLNL	401827	broad.mit.edu	37	16	822938	822938	+	Silent	SNP	C	C	T	rs368681285		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:822938C>T	ENST00000442466.1	-	10	1193	c.1194G>A	c.(1192-1194)acG>acA	p.T398T	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Silent_p.T749T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	398					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T749T(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GAGCCATGACCGTGTCCTGGG	0.682																																							uc002cjz.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)	4						c.(2245-2247)ACG>ACA		mesothelin-like		C		0,4230		0,0,2115	60.0	69.0	66.0		2247	-10.2	0.0	16		66	1,8429		0,1,4214	no	coding-synonymous	MSLNL	NM_001025190.1		0,1,6329	TT,TC,CC		0.0119,0.0,0.0079		749/1054	822938	1,12659	2115	4215	6330	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:822938C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1194G>A	16.37:g.822938C>T							p.T749T	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			11	2247	-			398			Extracellular (Potential).			Silent	SNP	ENST00000442466.1	37	c.2247G>A																																																																																					0.682	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		8	29	0	0	0	0.00308	0	8	29				
UBN1	29855	broad.mit.edu	37	16	4924548	4924548	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:4924548G>A	ENST00000396658.4	+	14	2840	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	UBN1_ENST00000262376.6_Missense_Mutation_p.E713K|UBN1_ENST00000545171.1_Missense_Mutation_p.E713K|UBN1_ENST00000590769.1_Missense_Mutation_p.E713K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	713					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E713K(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TTTATGTACAGAAGAAAAAAG	0.493																																							uc002cyb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2137-2139)GAA>AAA		ubinuclein 1							144.0	162.0	156.0					16																	4924548		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924548G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2137G>A	16.37:g.4924548G>A	ENSP00000379894:p.Glu713Lys					UBN1_uc010uxw.1_Missense_Mutation_p.E713K|UBN1_uc002cyc.2_Missense_Mutation_p.E713K	p.E713K	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2476	+			713					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.2137G>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156735	0.38119	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.51574	1.31;0.7;1.31	4.95	4.0	0.46444	.	0.413771	0.24100	N	0.041541	T	0.33440	0.0863	L	0.32530	0.975	0.28664	N	0.905954	B;B	0.12013	0.004;0.005	B;B	0.11329	0.006;0.004	T	0.17745	-1.0359	10	0.11794	T	0.64	-13.8584	11.6811	0.51458	0.0814:0.0:0.9186:0.0	.	713;713	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	K	713	ENSP00000262376:E713K;ENSP00000442379:E713K;ENSP00000379894:E713K	ENSP00000262376:E713K	E	+	1	0	UBN1	4864549	1.000000	0.71417	0.442000	0.26870	0.004000	0.04260	6.272000	0.72575	1.324000	0.45282	-0.251000	0.11542	GAA		0.493	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		43	149	0	0	0	0.002852	0	43	149				
GRIN2A	2903	broad.mit.edu	37	16	9934799	9934799	+	Silent	SNP	G	G	T	rs146157761		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:9934799G>T	ENST00000396573.2	-	7	1800	c.1491C>A	c.(1489-1491)atC>atA	p.I497I	GRIN2A_ENST00000330684.3_Silent_p.I497I|GRIN2A_ENST00000562109.1_Silent_p.I497I|GRIN2A_ENST00000404927.2_Silent_p.I497I|GRIN2A_ENST00000535259.1_Silent_p.I340I|GRIN2A_ENST00000396575.2_Silent_p.I497I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	497					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.I497I(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTACTTCACCGATCATTCCAT	0.428																																							uc002czo.3		NA																	2	Substitution - coding silent(2)	p.I497I(1)	lung(1)|skin(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1489-1491)ATC>ATA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						173.0	147.0	156.0					16																	9934799		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934799G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1491C>A	16.37:g.9934799G>T						GRIN2A_uc010uym.1_Silent_p.I497I|GRIN2A_uc010uyn.1_Silent_p.I340I|GRIN2A_uc002czr.3_Silent_p.I497I	p.I497I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			6	2039	-			497			Extracellular (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.1491C>A	CCDS10539.1																																																																																				0.428	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			16	67	1	0	5.03518e-11	0.007413	8.19132e-11	16	67				
GRIN2A	2903	broad.mit.edu	37	16	9943652	9943652	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:9943652A>G	ENST00000396573.2	-	6	1598	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	GRIN2A_ENST00000330684.3_Missense_Mutation_p.V430A|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V430A|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V430A|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V273A|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V430A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	430					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V430A(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGTTCCTCACACACGTCTC	0.542																																							uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1288-1290)GTG>GCG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						178.0	138.0	152.0					16																	9943652		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943652A>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1289T>C	16.37:g.9943652A>G	ENSP00000379818:p.Val430Ala					GRIN2A_uc010uym.1_Missense_Mutation_p.V430A|GRIN2A_uc010uyn.1_Missense_Mutation_p.V273A|GRIN2A_uc002czr.3_Missense_Mutation_p.V430A	p.V430A	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			5	1837	-			430			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1289T>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.600682	0.66332	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12147	2.72;2.71;2.71;2.72;2.72	5.32	5.32	0.75619	.	0.209861	0.48767	D	0.000163	T	0.15219	0.0367	L	0.58101	1.795	0.42947	D	0.994362	B;B;B	0.17667	0.02;0.023;0.012	B;B;B	0.24394	0.053;0.036;0.009	T	0.05435	-1.0885	9	.	.	.	.	10.2078	0.43124	0.8421:0.0:0.0:0.1578	.	273;430;430	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	A	430;430;273;430;430	ENSP00000379818:V430A;ENSP00000385872:V430A;ENSP00000441572:V273A;ENSP00000332549:V430A;ENSP00000379820:V430A	.	V	-	2	0	GRIN2A	9851153	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	6.011000	0.70760	2.013000	0.59113	0.533000	0.62120	GTG		0.542	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			8	64	0	0	0	0.006214	0	8	64				
GRIN2A	2903	broad.mit.edu	37	16	9984903	9984903	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:9984903G>T	ENST00000396573.2	-	5	1371	c.1062C>A	c.(1060-1062)ggC>ggA	p.G354G	GRIN2A_ENST00000330684.3_Silent_p.G354G|GRIN2A_ENST00000562109.1_Silent_p.G354G|GRIN2A_ENST00000404927.2_Silent_p.G354G|GRIN2A_ENST00000535259.1_Silent_p.G197G|GRIN2A_ENST00000396575.2_Silent_p.G354G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	354					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G354G(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCACCTGGTAGCCTTCCTCAG	0.463																																							uc002czo.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1060-1062)GGC>GGA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						152.0	131.0	138.0					16																	9984903		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9984903G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1062C>A	16.37:g.9984903G>T						GRIN2A_uc010uym.1_Silent_p.G354G|GRIN2A_uc010uyn.1_Silent_p.G197G|GRIN2A_uc002czr.3_Silent_p.G354G	p.G354G	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			4	1610	-			354			Extracellular (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.1062C>A	CCDS10539.1																																																																																				0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			9	61	1	0	1.33987e-11	0.008291	2.20435e-11	9	61				
MYH11	4629	broad.mit.edu	37	16	15808819	15808819	+	Silent	SNP	C	C	T	rs372173243		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:15808819C>T	ENST00000300036.5	-	40	5842	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Silent_p.T1918T|MYH11_ENST00000576790.2_Silent_p.T1911T|MYH11_ENST00000452625.2_Silent_p.T1918T|NDE1_ENST00000396354.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1911					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T1911T(2)|p.T1918T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGTTGCTCTCCGTGGCCTCAT	0.657			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(5731-5733)ACG>ACA		smooth muscle myosin heavy chain 11 isoform		C	,,,,,	1,4393	2.1+/-5.4	0,1,2196	123.0	119.0	120.0		5754,5754,,5733,,5733	-9.5	0.7	16		120	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	MYH11,NDE1	NM_001040113.1,NM_001040114.1,NM_001143979.1,NM_002474.2,NM_017668.2,NM_022844.2	,,,,,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,,,,,	1918/1946,1918/1980,,1911/1973,,1911/1939	15808819	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15808819C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5733G>A	16.37:g.15808819C>T						MYH11_uc002ddv.2_Silent_p.T1918T|MYH11_uc002ddw.2_Silent_p.T1911T|MYH11_uc002ddx.2_Silent_p.T1918T|MYH11_uc010bvg.2_Silent_p.T1743T|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Silent_p.T617T	p.T1911T	NM_002474	NP_002465	P35749	MYH11_HUMAN			40	5840	-			1911			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.5733G>A	CCDS10565.1																																																																																				0.657	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		34	115	0	0	0	0.005524	0	34	115				
GPRC5B	51704	broad.mit.edu	37	16	19873269	19873269	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:19873269C>T	ENST00000300571.2	-	3	1248	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	GPRC5B_ENST00000535671.1_Missense_Mutation_p.G353S|GPRC5B_ENST00000537135.1_Missense_Mutation_p.G379S|GPRC5B_ENST00000569479.1_Missense_Mutation_p.G353S|GPRC5B_ENST00000569847.1_Missense_Mutation_p.G353S	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	353					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.G353S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCCAAGCTGCCGTTGGGAAAT	0.512																																							uc002dgt.2		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)	lung(1)|breast(1)|skin(1)	3						c.(1057-1059)GGC>AGC		G protein-coupled receptor, family C, group 5,							61.0	55.0	57.0					16																	19873269		2197	4300	6497	SO:0001583	missense	51704							g.chr16:19873269C>T	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1057G>A	16.37:g.19873269C>T	ENSP00000300571:p.Gly353Ser					GPRC5B_uc010vav.1_Missense_Mutation_p.G379S	p.G353S	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN			3	1165	-			353			Cytoplasmic (Potential).		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1057G>A	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461850	0.84425	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.31510	1.52;1.55;1.49	5.38	4.43	0.53597	.	0.217634	0.38605	N	0.001640	T	0.45796	0.1360	L	0.43152	1.355	0.39549	D	0.968947	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38112	-0.9676	9	.	.	.	.	13.1289	0.59369	0.0:0.9234:0.0:0.0766	.	379;353	B7Z831;Q9NZH0	.;GPC5B_HUMAN	S	353;353;202;379	ENSP00000300571:G353S;ENSP00000442858:G353S;ENSP00000441775:G379S	.	G	-	1	0	GPRC5B	19780770	0.997000	0.39634	0.994000	0.49952	0.946000	0.59487	3.604000	0.54081	1.276000	0.44395	-0.136000	0.14681	GGC		0.512	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			5	30	0	0	0	0.001168	0	5	30				
UMOD	7369	broad.mit.edu	37	16	20352594	20352594	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:20352594G>T	ENST00000570689.1	-	7	1542	c.1396C>A	c.(1396-1398)Cct>Act	p.P466T	UMOD_ENST00000396138.4_Missense_Mutation_p.P515T|UMOD_ENST00000302509.4_Missense_Mutation_p.P466T|UMOD_ENST00000396142.2_Missense_Mutation_p.P466T|UMOD_ENST00000396134.2_Missense_Mutation_p.P499T|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.P499T			P07911	UROM_HUMAN	uromodulin	466	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.P466T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGTAGGAAGGGGTCTGGAAG	0.612																																							uc002dgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1396-1398)CCT>ACT		uromodulin precursor							90.0	72.0	78.0					16																	20352594		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352594G>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1396C>A	16.37:g.20352594G>T	ENSP00000460548:p.Pro466Thr					UMOD_uc002dha.2_Missense_Mutation_p.P466T|UMOD_uc002dhb.2_Missense_Mutation_p.P499T	p.P466T	NM_003361	NP_003352	P07911	UROM_HUMAN			7	1525	-			466			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1396C>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292914	0.40594	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.34	3.25	0.37280	Zona pellucida sperm-binding protein (3);	0.256424	0.28130	N	0.016496	D	0.85860	0.5795	M	0.64404	1.975	0.09310	N	0.999999	D;D	0.76494	0.999;0.976	D;D	0.72982	0.979;0.926	T	0.74478	-0.3652	10	0.40728	T	0.16	-7.7282	3.9545	0.09383	0.0882:0.1589:0.5889:0.1639	.	499;466	E9PEA4;P07911	.;UROM_HUMAN	T	466;499;499;466;444;466	ENSP00000379438:P499T;ENSP00000416346:P499T;ENSP00000306279:P466T;ENSP00000379446:P466T	ENSP00000306279:P466T	P	-	1	0	UMOD	20260095	0.046000	0.20272	0.139000	0.22197	0.796000	0.44982	1.019000	0.30014	1.382000	0.46385	0.655000	0.94253	CCT		0.612	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			9	32	1	0	0.000673444	0.008291	0.000757755	9	32				
ACSM2A	123876	broad.mit.edu	37	16	20487038	20487038	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:20487038G>A	ENST00000573854.1	+	8	1155	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	ACSM2A_ENST00000219054.6_Silent_p.E347E|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Silent_p.E268E|ACSM2A_ENST00000536134.1_Silent_p.E119E|ACSM2A_ENST00000575690.1_Silent_p.E347E|ACSM2A_ENST00000396104.2_Silent_p.E347E	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	347					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.E347E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAACTCTGGAGAACTGGAGGG	0.517																																							uc010bwe.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(1039-1041)GAG>GAA		acyl-CoA synthetase medium-chain family member							136.0	142.0	140.0					16																	20487038		2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20487038G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1041G>A	16.37:g.20487038G>A						ACSM2A_uc010vax.1_Silent_p.E268E|ACSM2A_uc002dhf.3_Silent_p.E347E|ACSM2A_uc002dhg.3_Silent_p.E347E|ACSM2A_uc010vay.1_Silent_p.E268E|ACSM2A_uc002dhh.3_5'UTR	p.E347E	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			9	1280	+			347					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1041G>A	CCDS32401.1																																																																																				0.517	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		25	138	0	0	0	0.00632	0	25	138				
ACSM1	116285	broad.mit.edu	37	16	20648142	20648142	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:20648142G>T	ENST00000307493.4	-	9	1285	c.1218C>A	c.(1216-1218)agC>agA	p.S406R	ACSM1_ENST00000520010.1_Missense_Mutation_p.S406R|ACSM1_ENST00000219151.4_Missense_Mutation_p.S57R	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	406					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.S57R(1)|p.S406R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTGGCAGGATGCTGCCCTTGT	0.532																																							uc002dhm.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1216-1218)AGC>AGA		acyl-CoA synthetase medium-chain family member							183.0	129.0	147.0					16																	20648142		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20648142G>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1218C>A	16.37:g.20648142G>T	ENSP00000301956:p.Ser406Arg					ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.S406R	p.S406R	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			9	1286	-			406					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.1218C>A	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	g	5.127	0.208963	0.09757	.	.	ENSG00000166743	ENST00000307493;ENST00000219151;ENST00000520010	T;T;T	0.38887	1.11;1.11;1.11	4.59	-1.82	0.07857	AMP-dependent synthetase/ligase (1);	0.106091	0.41500	D	0.000880	T	0.14830	0.0358	N	0.02296	-0.605	0.21325	N	0.999721	B	0.33413	0.411	B	0.31495	0.131	T	0.23619	-1.0183	10	0.37606	T	0.19	.	9.4395	0.38659	0.603:0.0:0.397:0.0	.	406	Q08AH1	ACSM1_HUMAN	R	406;57;406	ENSP00000301956:S406R;ENSP00000219151:S57R;ENSP00000428047:S406R	ENSP00000219151:S57R	S	-	3	2	ACSM1	20555643	0.001000	0.12720	0.257000	0.24404	0.198000	0.23893	-0.870000	0.04228	-0.385000	0.07833	0.508000	0.49915	AGC		0.532	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		8	35	1	0	1.76689e-08	0.006214	2.62778e-08	8	35				
OTOA	146183	broad.mit.edu	37	16	21698943	21698943	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:21698943C>G	ENST00000286149.4	+	7	610	c.609C>G	c.(607-609)gaC>gaG	p.D203E	OTOA_ENST00000388958.3_Missense_Mutation_p.D203E|OTOA_ENST00000388956.4_Missense_Mutation_p.D124E			Q7RTW8	OTOAN_HUMAN	otoancorin	203					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.D203E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCCTCGGGACCTGCGCGAGG	0.542																																							uc002djh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(607-609)GAC>GAG		otoancorin isoform 1							35.0	34.0	34.0					16																	21698943		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698943C>G	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.609C>G	16.37:g.21698943C>G	ENSP00000286149:p.Asp203Glu					uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.D124E	p.D203E	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	7	610	+			203					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.609C>G		.	.	.	.	.	.	.	.	.	.	C	2.476	-0.320875	0.05386	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12465	2.68;2.68;2.68	4.36	1.3	0.21679	.	0.577670	0.17461	N	0.173428	T	0.08935	0.0221	L	0.39633	1.23	0.09310	N	0.999999	B;B	0.21147	0.052;0.052	B;B	0.19946	0.027;0.018	T	0.32268	-0.9913	10	0.23891	T	0.37	-1.3136	3.2498	0.06810	0.1838:0.5118:0.0:0.3044	.	124;203	B3KWU3;E9PF51	.;.	E	203;203;124	ENSP00000373610:D203E;ENSP00000286149:D203E;ENSP00000373608:D124E	ENSP00000286149:D203E	D	+	3	2	OTOA	21606444	0.893000	0.30496	0.041000	0.18516	0.120000	0.20174	0.531000	0.23052	0.314000	0.23086	-0.240000	0.12126	GAC		0.542	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			4	19	0	0	0	0.009096	0	4	19				
ZKSCAN2	342357	broad.mit.edu	37	16	25255428	25255428	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:25255428C>A	ENST00000328086.7	-	6	2462	c.1659G>T	c.(1657-1659)aaG>aaT	p.K553N		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	553					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K553N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGCTTTTGAACTTGGTTCGGC	0.527																																							uc002dod.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1657-1659)AAG>AAT		zinc finger with KRAB and SCAN domains 2							92.0	90.0	91.0					16																	25255428		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255428C>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1659G>T	16.37:g.25255428C>A	ENSP00000331626:p.Lys553Asn					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.K349N	p.K553N	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2066	-			553					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1659G>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966570	0.74131	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.64438	-0.1	5.47	3.52	0.40303	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000003	T	0.81711	0.4880	M	0.93638	3.44	0.36299	D	0.856933	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85743	0.1338	10	0.87932	D	0	-29.591	8.8238	0.35043	0.0:0.826:0.0:0.174	.	349;553	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	N	553	ENSP00000331626:K553N	ENSP00000331626:K553N	K	-	3	2	ZKSCAN2	25162929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.807000	0.38902	0.797000	0.33971	0.650000	0.86243	AAG		0.527	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		15	73	1	0	6.72482e-11	0.003163	1.08793e-10	15	73				
GTF3C1	2975	broad.mit.edu	37	16	27512582	27512582	+	Missense_Mutation	SNP	C	C	A	rs368004435		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:27512582C>A	ENST00000356183.4	-	12	2006	c.1991G>T	c.(1990-1992)cGg>cTg	p.R664L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R664L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	664					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R664L(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGACAGGTTCCGCACCAAGCG	0.522																																							uc002dov.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1990-1992)CGG>CTG		general transcription factor IIIC, polypeptide							164.0	134.0	144.0					16																	27512582		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27512582C>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1991G>T	16.37:g.27512582C>A	ENSP00000348510:p.Arg664Leu					GTF3C1_uc002dou.2_Missense_Mutation_p.R664L	p.R664L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			12	2031	-			664					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1991G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435218	0.62955	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.23348	1.91	5.22	2.2	0.27929	.	0.615659	0.17455	N	0.173631	T	0.20901	0.0503	L	0.60455	1.87	0.38080	D	0.936658	P;P	0.48640	0.708;0.913	B;B	0.40864	0.132;0.342	T	0.12041	-1.0563	10	0.22109	T	0.4	-19.1394	6.1813	0.20472	0.0:0.5293:0.0:0.4707	.	664;664	Q12789;Q12789-3	TF3C1_HUMAN;.	L	664;662	ENSP00000348510:R664L	ENSP00000348510:R664L	R	-	2	0	GTF3C1	27420083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.207000	0.42788	0.701000	0.31803	0.563000	0.77884	CGG		0.522	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		9	61	1	0	0.00621372	0.006214	0.00666704	9	61				
SBK1	388228	broad.mit.edu	37	16	28330425	28330425	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:28330425G>T	ENST00000341901.4	+	3	1125	c.336G>T	c.(334-336)aaG>aaT	p.K112N		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V113F(1)|p.K112N(1)		kidney(1)|lung(3)|ovary(1)	5						TCATCATCAAGGTCTTTGACG	0.532																																							uc002dpd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(334-336)AAG>AAT		SH3-binding kinase 1							160.0	142.0	148.0					16																	28330425		2197	4300	6497	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28330425G>T		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.336G>T	16.37:g.28330425G>T	ENSP00000343248:p.Lys112Asn						p.K112N	NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN			3	1125	+			112			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.336G>T	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	g	12.60	1.987046	0.35036	.	.	ENSG00000188322	ENST00000341901	T	0.23950	1.88	4.74	1.64	0.23874	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099164	0.64402	D	0.000002	T	0.17365	0.0417	L	0.35644	1.08	0.31655	N	0.646322	B	0.14438	0.01	B	0.14023	0.01	T	0.08827	-1.0703	10	0.41790	T	0.15	-22.0253	7.1121	0.25396	0.384:0.0:0.616:0.0	.	112	Q52WX2	SBK1_HUMAN	N	112	ENSP00000343248:K112N	ENSP00000343248:K112N	K	+	3	2	SBK1	28237926	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.057000	0.41365	0.426000	0.26116	0.651000	0.88453	AAG		0.532	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		12	63	1	0	2.27111e-07	0.001368	3.21042e-07	12	63				
SETD1A	9739	broad.mit.edu	37	16	30977436	30977436	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:30977436G>T	ENST00000262519.8	+	8	2920	c.2234G>T	c.(2233-2235)cGg>cTg	p.R745L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	745					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R745L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCATACTCACGGGAGGCCTAC	0.672																																							uc002ead.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2233-2235)CGG>CTG		SET domain containing 1A							24.0	28.0	27.0					16																	30977436		2179	4277	6456	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977436G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2234G>T	16.37:g.30977436G>T	ENSP00000262519:p.Arg745Leu						p.R745L	NM_014712	NP_055527	O15047	SET1A_HUMAN			8	2920	+			745					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.2234G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136669	0.21123	.	.	ENSG00000099381	ENST00000262519	D	0.94330	-3.4	5.59	4.64	0.57946	.	0.083622	0.50627	D	0.000104	D	0.88138	0.6356	L	0.40543	1.245	0.38745	D	0.953982	B	0.27013	0.166	B	0.21360	0.034	D	0.85283	0.1063	10	0.40728	T	0.16	.	8.6968	0.34301	0.1721:0.0:0.8279:0.0	.	745	O15047	SET1A_HUMAN	L	745	ENSP00000262519:R745L	ENSP00000262519:R745L	R	+	2	0	SETD1A	30884937	0.995000	0.38212	0.997000	0.53966	0.741000	0.42261	1.145000	0.31577	1.370000	0.46153	-0.140000	0.14226	CGG		0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		14	47	1	0	4.36969e-10	0.001855	6.88557e-10	14	47				
ZNF267	10308	broad.mit.edu	37	16	31927483	31927483	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:31927483G>T	ENST00000300870.10	+	4	2122	c.1913G>T	c.(1912-1914)gGc>gTc	p.G638V		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	638					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G638V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GAAGAATGTGGCAAAGCCTTC	0.413																																							uc002ecs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1912-1914)GGC>GTC		zinc finger protein 267							73.0	75.0	74.0					16																	31927483		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927483G>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1913G>T	16.37:g.31927483G>T	ENSP00000300870:p.Gly638Val						p.G638V	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	2122	+			638			C2H2-type 12.		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1913G>T	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	17.24	3.338085	0.60963	.	.	ENSG00000185947	ENST00000300870	T	0.07567	3.18	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31167	0.0788	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.12426	-1.0548	9	0.72032	D	0.01	.	6.7127	0.23286	1.0E-4:0.0:0.9999:0.0	.	638	Q14586	ZN267_HUMAN	V	638	ENSP00000300870:G638V	ENSP00000300870:G638V	G	+	2	0	ZNF267	31834984	0.945000	0.32115	0.801000	0.32222	0.781000	0.44180	1.285000	0.33261	0.488000	0.27723	0.491000	0.48974	GGC		0.413	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		8	55	1	0	1.12685e-05	0.004482	1.44938e-05	8	55				
ABCC12	94160	broad.mit.edu	37	16	48117862	48117862	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:48117862T>A	ENST00000311303.3	-	28	4296	c.3951A>T	c.(3949-3951)acA>acT	p.T1317T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1317	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.T1317T(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGTTGAGAACTGTGTTGAGGC	0.517																																							uc002efc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3949-3951)ACA>ACT		ATP-binding cassette protein C12							155.0	150.0	152.0					16																	48117862		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48117862T>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3951A>T	16.37:g.48117862T>A						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.T1317T	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			28	4297	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1317			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3951A>T	CCDS10730.1																																																																																				0.517	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		12	68	0	0	0	0.003163	0	12	68				
ABCC11	85320	broad.mit.edu	37	16	48256510	48256510	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:48256510T>A	ENST00000394747.1	-	5	1125	c.776A>T	c.(775-777)gAg>gTg	p.E259V	ABCC11_ENST00000353782.5_Splice_Site_p.E259V|ABCC11_ENST00000394748.1_Splice_Site_p.E259V|ABCC11_ENST00000356608.2_Splice_Site_p.E259V|ABCC11_ENST00000537808.1_Splice_Site_p.E259V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	259	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.E259V(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCTGCTTACCTCTCCTGAGGT	0.522																																							uc002eff.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(775-777)GAG>GTG		ATP-binding cassette, sub-family C, member 11							78.0	69.0	72.0					16																	48256510		2201	4300	6501	SO:0001630	splice_region_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48256510T>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.777+1A>T	16.37:g.48256510T>A						ABCC11_uc002efg.1_Missense_Mutation_p.E259V|ABCC11_uc002efh.1_Missense_Mutation_p.E259V|ABCC11_uc010vgl.1_Missense_Mutation_p.E259V	p.E259V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			5	1126	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	259			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.776A>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932123	0.52866	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	4.77	4.77	0.60923	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.066287	0.64402	D	0.000017	D	0.95595	0.8568	M	0.79926	2.475	0.43250	D	0.995178	D;D	0.76494	0.999;0.983	D;D	0.85130	0.997;0.957	D	0.95864	0.8885	10	0.87932	D	0	.	11.8009	0.52126	0.0:0.0:0.0:1.0	.	259;259	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	259	ENSP00000311326:E259V;ENSP00000349017:E259V;ENSP00000378231:E259V;ENSP00000378230:E259V;ENSP00000438530:E259V	ENSP00000311326:E259V	E	-	2	0	ABCC11	46814011	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	4.405000	0.59741	1.754000	0.51921	0.460000	0.39030	GAG		0.522	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	Missense_Mutation	4	25	0	0	0	0.009096	0	4	25				
GNAO1	2775	broad.mit.edu	37	16	56374811	56374811	+	Intron	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:56374811G>T	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Silent_p.T263T	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.T263T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TCACAGACACGTCCATCATCC	0.483																																							uc002eit.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(787-789)ACG>ACT		guanine nucleotide binding protein, alpha							303.0	303.0	303.0					16																	56374811		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56374811G>T		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+4039G>T	16.37:g.56374811G>T						GNAO1_uc002eiu.3_Intron	p.T263T	NM_138736	NP_620073	P09471	GNAO_HUMAN			7	1686	+		all_neural(199;0.159)	263					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.789G>T	CCDS10756.1																																																																																				0.483	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		54	224	1	0	8.99859e-20	0.00361	1.65847e-19	54	224				
CCDC113	29070	broad.mit.edu	37	16	58293790	58293790	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:58293790T>A	ENST00000219299.4	+	5	658	c.579T>A	c.(577-579)aaT>aaA	p.N193K	CCDC113_ENST00000443128.2_Missense_Mutation_p.N139K	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	193						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.N193K(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GTTTGAAAAATGTTTCTCTCA	0.323																																							uc002ene.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(577-579)AAT>AAA		coiled-coil domain containing 113 isoform 1							79.0	83.0	82.0					16																	58293790		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58293790T>A	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.579T>A	16.37:g.58293790T>A	ENSP00000219299:p.Asn193Lys					CCDC113_uc010vid.1_Missense_Mutation_p.N139K	p.N193K	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			5	658	+			193			Potential.		B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.579T>A	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.823989	0.71143	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.42131	1.13;0.98	5.1	2.81	0.32909	.	0.046621	0.85682	D	0.000000	T	0.61098	0.2320	M	0.86178	2.8	0.42323	D	0.992261	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	T	0.60214	-0.7307	10	0.27082	T	0.32	-23.0035	8.2775	0.31881	0.0:0.1722:0.0:0.8278	.	139;193	B4DR20;Q9H0I3	.;CC113_HUMAN	K	139;193	ENSP00000402588:N139K;ENSP00000219299:N193K	ENSP00000219299:N193K	N	+	3	2	CCDC113	56851291	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.682000	0.25335	0.778000	0.33520	0.519000	0.50382	AAT		0.323	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		8	51	0	0	0	0.004482	0	8	51				
CDH8	1006	broad.mit.edu	37	16	61854978	61854978	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:61854978C>A	ENST00000577390.1	-	6	1829	c.875G>T	c.(874-876)gGc>gTc	p.G292V	CDH8_ENST00000299345.6_Missense_Mutation_p.G292V|CDH8_ENST00000584337.1_Missense_Mutation_p.G292V|CDH8_ENST00000577730.1_Missense_Mutation_p.G292V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	292	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.G292V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TATTGCAGTGCCAAGAACCAC	0.403																																							uc002eog.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(874-876)GGC>GTC		cadherin 8, type 2 preproprotein							122.0	92.0	103.0					16																	61854978		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61854978C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.875G>T	16.37:g.61854978C>A	ENSP00000462701:p.Gly292Val					CDH8_uc002eoh.2_Missense_Mutation_p.G61V	p.G292V	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	6	1127	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	292			Extracellular (Potential).|Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.875G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756672	0.89843	.	.	ENSG00000150394	ENST00000299345	T	0.55930	0.49	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83308	0.5226	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.87631	0.2516	10	0.66056	D	0.02	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	108;292	Q3LID3;P55286	.;CADH8_HUMAN	V	292	ENSP00000299345:G292V	ENSP00000299345:G292V	G	-	2	0	CDH8	60412479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.402000	0.79972	2.831000	0.97527	0.650000	0.86243	GGC		0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	30	1	0	1.06961e-07	0.00308	1.54041e-07	8	30				
CTCF	10664	broad.mit.edu	37	16	67670753	67670753	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:67670753G>T	ENST00000264010.4	+	11	2442	c.1998G>T	c.(1996-1998)caG>caT	p.Q666H	CTCF_ENST00000401394.1_Splice_Site_p.Q338H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	666					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q666H(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AACAGAACCAGCGTAAGTTGT	0.597																																					Colon(175;1200 1966 6945 23069 27405)	Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1996-1998)CAG>CAT		CCCTC-binding factor							102.0	104.0	103.0					16																	67670753		2198	4300	6498	SO:0001630	splice_region_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67670753G>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1999+1G>T	16.37:g.67670753G>T						CTCF_uc010cek.2_Missense_Mutation_p.Q338H|CTCF_uc002etm.1_Missense_Mutation_p.Q155H	p.Q666H	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	11	2288	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	666					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1998G>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298822	0.60195	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.08720	3.06;3.12	6.03	4.98	0.66077	.	0.000000	0.56097	D	0.000025	T	0.14270	0.0345	N	0.14661	0.345	0.47341	D	0.999394	P;P	0.51240	0.943;0.86	D;P	0.66979	0.948;0.585	T	0.10474	-1.0628	10	0.66056	D	0.02	-3.1314	13.188	0.59693	0.0785:0.0:0.9215:0.0	.	338;666	B5MC38;P49711	.;CTCF_HUMAN	H	666;338	ENSP00000264010:Q666H;ENSP00000384707:Q338H	ENSP00000264010:Q666H	Q	+	3	2	CTCF	66228254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.337000	0.52120	1.395000	0.46643	0.655000	0.94253	CAG		0.597	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565	Missense_Mutation	21	95	1	0	7.41877e-09	0.001882	1.11935e-08	21	95				
NUTF2	10204	broad.mit.edu	37	16	67899124	67899124	+	Missense_Mutation	SNP	G	G	C	rs146730920		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:67899124G>C	ENST00000219169.4	+	2	374	c.91G>C	c.(91-93)Gca>Cca	p.A31P	NUTF2_ENST00000569436.2_Missense_Mutation_p.A31P|NUTF2_ENST00000568396.2_Missense_Mutation_p.A31P	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	31	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)	p.A31P(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAACTAGGCGCAATTTACGT	0.468																																							uc002eup.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GCA>CCA		nuclear transport factor 2							73.0	64.0	67.0					16																	67899124		2198	4300	6498	SO:0001583	missense	10204				protein transport	cytosol|nuclear pore	protein binding|transporter activity	g.chr16:67899124G>C	U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.91G>C	16.37:g.67899124G>C	ENSP00000219169:p.Ala31Pro					NUTF2_uc010vkf.1_Missense_Mutation_p.A31P	p.A31P	NM_005796	NP_005787	P61970	NTF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)	2	190	+		Ovarian(137;0.0563)	31			NTF2.		B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	c.91G>C	CCDS10848.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525969	0.44969	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.42	5.42	0.78866	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.328672	0.32244	N	0.006363	T	0.59128	0.2171	L	0.28274	0.84	0.35461	D	0.796549	D;P	0.71674	0.998;0.764	D;B	0.65874	0.939;0.25	T	0.61831	-0.6982	9	0.25751	T	0.34	0.2507	18.0088	0.89217	0.0:0.0:1.0:0.0	.	31;31	B4DEQ2;P61970	.;NTF2_HUMAN	P	31	.	ENSP00000219169:A31P	A	+	1	0	NUTF2	66456625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.913000	0.48790	2.557000	0.86248	0.555000	0.69702	GCA		0.468	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1			9	30	0	0	0	0.006214	0	9	30				
TANGO6	79613	broad.mit.edu	37	16	68961558	68961558	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:68961558G>A	ENST00000261778.1	+	13	2227	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	739						integral component of membrane (GO:0016021)		p.E739K(1)|p.E268K(1)									GGTCATCCAAGAACTCGCTGT	0.473																																							uc002ewi.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2215-2217)GAA>AAA		transmembrane and coiled-coil domains 7							159.0	157.0	157.0					16																	68961558		2060	4233	6293	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68961558G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2215G>A	16.37:g.68961558G>A	ENSP00000261778:p.Glu739Lys						p.E739K	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	13	2227	+		Ovarian(137;0.0568)	739					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.2215G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150849	0.94645	.	.	ENSG00000103047	ENST00000261778	T	0.64438	-0.1	5.37	5.37	0.77165	Armadillo-type fold (1);	0.047715	0.85682	D	0.000000	T	0.77280	0.4107	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.73225	-0.4050	10	0.25751	T	0.34	-18.3889	18.6945	0.91596	0.0:0.0:1.0:0.0	.	739	Q9C0B7	TMCO7_HUMAN	K	739	ENSP00000261778:E739K	ENSP00000261778:E739K	E	+	1	0	TMCO7	67519059	1.000000	0.71417	0.994000	0.49952	0.888000	0.51559	8.066000	0.89486	2.512000	0.84698	0.655000	0.94253	GAA		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		14	69	0	0	0	0.001855	0	14	69				
VPS4A	27183	broad.mit.edu	37	16	69350147	69350147	+	Missense_Mutation	SNP	G	G	T	rs552674435		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:69350147G>T	ENST00000254950.11	+	3	309	c.153G>T	c.(151-153)aaG>aaT	p.K51N	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.K75N	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)									p.K51N(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ACAGCGACAAGGCCAAGGAGA	0.602																																							uc002eww.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(151-153)AAG>AAT		vacuolar protein sorting factor 4A							58.0	66.0	63.0					16																	69350147		2058	4201	6259	SO:0001583	missense	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69350147G>T	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.153G>T	16.37:g.69350147G>T	ENSP00000254950:p.Lys51Asn						p.K51N	NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN			3	281	+		Ovarian(137;0.101)	51			Interaction with CHMP1B.|MIT.			Missense_Mutation	SNP	ENST00000254950.11	37	c.153G>T	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169732	0.57584	.	.	ENSG00000132612	ENST00000254950	T	0.71341	-0.56	5.86	-1.7	0.08159	MIT (2);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.71206	2.165	0.80722	D	1	B	0.27700	0.186	B	0.32724	0.151	T	0.63332	-0.6661	10	0.59425	D	0.04	-39.2246	10.8729	0.46894	0.5974:0.0:0.4026:0.0	.	51	Q9UN37	VPS4A_HUMAN	N	51	ENSP00000254950:K51N	ENSP00000254950:K51N	K	+	3	2	VPS4A	67907648	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	0.629000	0.24538	-0.116000	0.11893	0.655000	0.94253	AAG		0.602	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		6	38	1	0	0.00198382	0.001984	0.00217995	6	38				
PDPR	55066	broad.mit.edu	37	16	70154580	70154580	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:70154580C>G	ENST00000288050.4	+	3	1142	c.185C>G	c.(184-186)tCc>tGc	p.S62C	PDPR_ENST00000398122.3_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.S62C	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	62					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.S62C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TATCACCTCTCCAAAATGGGG	0.557																																							uc002eyf.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(184-186)TCC>TGC		pyruvate dehydrogenase phosphatase regulatory							77.0	74.0	75.0					16																	70154580		2021	4190	6211	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70154580C>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.185C>G	16.37:g.70154580C>G	ENSP00000288050:p.Ser62Cys					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Intron	p.S62C	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	3	1142	+			62					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.185C>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988716	0.53934	.	.	ENSG00000090857	ENST00000288050	D	0.82803	-1.65	4.13	4.13	0.48395	FAD dependent oxidoreductase (1);	0.065047	0.64402	D	0.000010	T	0.76140	0.3946	L	0.31065	0.9	0.80722	D	1	B	0.15930	0.015	B	0.21151	0.033	T	0.74836	-0.3529	10	0.66056	D	0.02	.	15.7415	0.77901	0.0:1.0:0.0:0.0	.	62	Q8NCN5	PDPR_HUMAN	C	62	ENSP00000288050:S62C	ENSP00000288050:S62C	S	+	2	0	PDPR	68712081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.211000	0.77933	1.991000	0.58162	0.502000	0.49764	TCC		0.557	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		13	31	0	0	0	0.001855	0	13	31				
ST3GAL2	6483	broad.mit.edu	37	16	70415690	70415690	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:70415690C>G	ENST00000393640.4	-	6	3062	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	ST3GAL2_ENST00000342907.2_Missense_Mutation_p.E319Q|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	319					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.E319Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TTCCGGAACTCGCCCGCGTAC	0.652																																							uc002eyw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(955-957)GAG>CAG		ST3 beta-galactoside alpha-2,3-sialyltransferase							81.0	71.0	75.0					16																	70415690		2198	4300	6498	SO:0001583	missense	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70415690C>G	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.955G>C	16.37:g.70415690C>G	ENSP00000377257:p.Glu319Gln					ST3GAL2_uc002eyx.2_Missense_Mutation_p.E319Q	p.E319Q	NM_006927	NP_008858	Q16842	SIA4B_HUMAN			6	3063	-		Ovarian(137;0.0694)	319			Lumenal (Potential).		O00654	Missense_Mutation	SNP	ENST00000393640.4	37	c.955G>C	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	c	35	5.450725	0.96205	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.32023	1.47;1.47	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.27157	-1.0082	10	0.30854	T	0.27	-16.0259	20.6572	0.99604	0.0:1.0:0.0:0.0	.	319	Q16842	SIA4B_HUMAN	Q	319	ENSP00000345477:E319Q;ENSP00000377257:E319Q	ENSP00000345477:E319Q	E	-	1	0	ST3GAL2	68973191	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.979000	0.70508	2.890000	0.99128	0.586000	0.80456	GAG		0.652	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		5	42	0	0	0	0.001168	0	5	42				
HYDIN	54768	broad.mit.edu	37	16	70926292	70926292	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:70926292A>T	ENST00000393567.2	-	56	9539	c.9389T>A	c.(9388-9390)aTt>aAt	p.I3130N		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3130					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I3129N(1)|p.I3081N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGGTGCTCAATCTTCACTTC	0.478																																							uc002ezr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(9385-9387)ATT>AAT		hydrocephalus inducing isoform a							81.0	91.0	88.0					16																	70926292		1858	4091	5949	SO:0001583	missense	54768							g.chr16:70926292A>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9389T>A	16.37:g.70926292A>T	ENSP00000377197:p.Ile3130Asn						p.I3129N	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			56	9514	-		Ovarian(137;0.0654)	3130					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9386T>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028556	0.75390	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01113	5.32	4.85	4.85	0.62838	.	0.238313	0.19984	U	0.101719	T	0.06050	0.0157	M	0.76002	2.32	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	T	0.10730	-1.0617	10	0.59425	D	0.04	.	12.6924	0.56982	1.0:0.0:0.0:0.0	.	3129	F8WD23	.	N	3130;3129	ENSP00000377197:I3130N	ENSP00000313052:I3129N	I	-	2	0	HYDIN	69483793	0.890000	0.30428	0.380000	0.26093	0.789000	0.44602	7.641000	0.83368	1.821000	0.53095	0.352000	0.21897	ATT		0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			6	73	0	0	0	0.001168	0	6	73				
WDR59	79726	broad.mit.edu	37	16	74951836	74951836	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:74951836C>G	ENST00000262144.6	-	11	1087	c.957G>C	c.(955-957)caG>caC	p.Q319H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	319								p.Q319H(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCTCTGCATCTGGGAATCCA	0.453																																							uc002fdh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(955-957)CAG>CAC		WD repeat domain 59							110.0	96.0	101.0					16																	74951836		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74951836C>G	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.957G>C	16.37:g.74951836C>G	ENSP00000262144:p.Gln319His					WDR59_uc002fdi.2_Missense_Mutation_p.Q319H|WDR59_uc002fdj.2_Missense_Mutation_p.Q319H|WDR59_uc002fdg.1_5'Flank	p.Q319H	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			11	1059	-			319			WD 7.		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.957G>C	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229663	0.58777	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.71579	-0.58	5.82	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	L	0.27053	0.805	0.80722	D	1	D;D	0.71674	0.998;0.99	D;D	0.80764	0.994;0.979	T	0.75921	-0.3147	10	0.46703	T	0.11	-20.0043	14.0161	0.64525	0.0:0.9267:0.0:0.0733	.	319;319	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	H	319;298	ENSP00000262144:Q319H	ENSP00000262144:Q319H	Q	-	3	2	WDR59	73509337	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.017000	0.57167	1.429000	0.47314	0.650000	0.86243	CAG		0.453	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		9	54	0	0	0	0.006214	0	9	54				
BCAR1	9564	broad.mit.edu	37	16	75268814	75268814	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:75268814C>A	ENST00000162330.5	-	5	2109	c.1983G>T	c.(1981-1983)atG>atT	p.M661I	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Missense_Mutation_p.M659I|BCAR1_ENST00000535626.2_Missense_Mutation_p.M513I|BCAR1_ENST00000393422.2_Missense_Mutation_p.M679I|BCAR1_ENST00000418647.3_Missense_Mutation_p.M707I|BCAR1_ENST00000393420.6_Missense_Mutation_p.M679I|BCAR1_ENST00000546196.1_Missense_Mutation_p.M632I|BCAR1_ENST00000538440.2_Missense_Mutation_p.M661I|BCAR1_ENST00000420641.3_Missense_Mutation_p.M679I	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	661					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.M707I(1)|p.M661I(1)|p.M679I(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATAGTCCTCCATCCAGCCCC	0.632																																							uc002fdv.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(1981-1983)ATG>ATT		breast cancer anti-estrogen resistance 1							53.0	55.0	55.0					16																	75268814		2198	4300	6498	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75268814C>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1983G>T	16.37:g.75268814C>A	ENSP00000162330:p.Met661Ile					BCAR1_uc002fdt.2_Missense_Mutation_p.M114I|BCAR1_uc002fdu.2_Missense_Mutation_p.M451I|BCAR1_uc010cgu.2_Missense_Mutation_p.M650I|BCAR1_uc010vna.1_Missense_Mutation_p.M659I|BCAR1_uc010vnb.1_Missense_Mutation_p.M707I|BCAR1_uc002fdw.2_Missense_Mutation_p.M661I|BCAR1_uc010vnc.1_Missense_Mutation_p.M513I|BCAR1_uc010vnd.1_Missense_Mutation_p.M679I|BCAR1_uc002fdx.2_Missense_Mutation_p.M679I	p.M661I	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	2106	-			661					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.1983G>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812050	0.70797	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.99	4.99	0.66335	CAS family, DUF3513 (1);	0.085388	0.85682	D	0.000000	T	0.40619	0.1124	M	0.62723	1.935	0.80722	D	1	P;P;P;P;P;P;P;P;P	0.45531	0.86;0.675;0.86;0.599;0.831;0.86;0.806;0.86;0.722	P;B;P;B;P;P;B;P;B	0.58721	0.844;0.281;0.844;0.154;0.758;0.844;0.281;0.844;0.403	T	0.05500	-1.0881	10	0.39692	T	0.17	-35.811	16.1991	0.82057	0.0:1.0:0.0:0.0	.	679;513;707;659;679;679;661;661;451	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	I	661;679;679;661;707;513;679;659;632	ENSP00000162330:M661I;ENSP00000377074:M679I;ENSP00000392708:M679I;ENSP00000443841:M661I;ENSP00000391669:M707I;ENSP00000440370:M513I;ENSP00000377072:M679I;ENSP00000440415:M659I;ENSP00000442161:M632I	ENSP00000162330:M661I	M	-	3	0	BCAR1	73826315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.441000	0.80485	2.492000	0.84095	0.558000	0.71614	ATG		0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		5	30	1	0	5.9392e-07	0.001168	8.25141e-07	5	30				
CNTNAP4	85445	broad.mit.edu	37	16	76389295	76389295	+	Missense_Mutation	SNP	G	G	T	rs374909736		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:76389295G>T	ENST00000476707.1	+	2	425	c.286G>T	c.(286-288)Gct>Tct	p.A96S	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A68S|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A92S|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A92S|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	93	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.A68S(2)|p.A92S(1)|p.A68T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAGGTCACCGCTGTGGCCAC	0.483																																							uc002feu.1		NA																	4	Substitution - Missense(4)	p.A68T(1)	lung(3)|pancreas(1)	ovary(1)|pancreas(1)	2						c.(277-279)GCT>TCT		cell recognition protein CASPR4 isoform 1							82.0	72.0	76.0					16																	76389295		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76389295G>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.286G>T	16.37:g.76389295G>T	ENSP00000417628:p.Ala96Ser					CNTNAP4_uc002fev.1_Missense_Mutation_p.A5S|CNTNAP4_uc010chb.1_Missense_Mutation_p.A68S|CNTNAP4_uc002fex.1_Missense_Mutation_p.A96S|CNTNAP4_uc002few.2_Missense_Mutation_p.A68S	p.A93S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			5	662	+			93			Extracellular (Potential).|F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.277G>T		.	.	.	.	.	.	.	.	.	.	G	15.83	2.947801	0.53186	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	4.8	3.8	0.43715	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.186454	0.25906	N	0.027525	D	0.96568	0.8880	.	.	.	0.32183	N	0.580051	B;B;B;B	0.26577	0.066;0.14;0.153;0.08	B;B;P;B	0.45119	0.372;0.372;0.47;0.302	D	0.96738	0.9544	9	0.38643	T	0.18	.	10.6045	0.45386	0.0:0.0:0.7254:0.2746	.	68;96;68;93	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	S	92;92;68;96	ENSP00000306893:A92S;ENSP00000439733:A92S;ENSP00000418741:A68S;ENSP00000417628:A96S	ENSP00000306893:A92S	A	+	1	0	CNTNAP4	74946796	1.000000	0.71417	0.055000	0.19348	0.941000	0.58515	6.312000	0.72840	1.228000	0.43614	0.591000	0.81541	GCT		0.483	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		5	39	1	0	0.000602214	0.000602	0.000682885	5	39				
PLCG2	5336	broad.mit.edu	37	16	81960739	81960739	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:81960739G>A	ENST00000359376.3	+	23	2684	c.2470G>A	c.(2470-2472)Gtc>Atc	p.V824I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	824	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.V824I(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATCCAACTACGTCGAGGACAT	0.522																																							uc002fgt.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(2470-2472)GTC>ATC		phospholipase C, gamma 2							171.0	169.0	170.0					16																	81960739		2011	4180	6191	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81960739G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2470G>A	16.37:g.81960739G>A	ENSP00000352336:p.Val824Ile						p.V824I	NM_002661	NP_002652	P16885	PLCG2_HUMAN			23	2622	+			824			SH3.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2470G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352057	0.82132	.	.	ENSG00000197943	ENST00000359376	T	0.51817	0.69	5.29	5.29	0.74685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Src homology-3 domain (4);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76200	-0.3046	10	0.87932	D	0	.	18.9351	0.92582	0.0:0.0:1.0:0.0	.	824	P16885	PLCG2_HUMAN	I	824	ENSP00000352336:V824I	ENSP00000352336:V824I	V	+	1	0	PLCG2	80518240	1.000000	0.71417	0.137000	0.22149	0.440000	0.31957	9.675000	0.98638	2.473000	0.83533	0.655000	0.94253	GTC		0.522	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			25	93	0	0	0	0.00632	0	25	93				
HSD17B2	3294	broad.mit.edu	37	16	82131939	82131939	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:82131939G>T	ENST00000199936.4	+	5	1255	c.1062G>T	c.(1060-1062)ttG>ttT	p.L354F	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	354					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.L354F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCACTATTTGCCTATTGGCA	0.473																																							uc002fgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1060-1062)TTG>TTT		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						156.0	143.0	147.0					16																	82131939		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82131939G>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1062G>T	16.37:g.82131939G>T	ENSP00000199936:p.Leu354Phe						p.L354F	NM_002153	NP_002144	P37059	DHB2_HUMAN			5	1234	+			354					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.1062G>T	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	g	5.196	0.221750	0.09863	.	.	ENSG00000086696	ENST00000199936	T	0.46451	0.87	5.57	-3.12	0.05282	NAD(P)-binding domain (1);	1.008900	0.07940	N	0.979062	T	0.22003	0.0530	N	0.19112	0.55	0.09310	N	0.999998	B	0.11235	0.004	B	0.15052	0.012	T	0.21655	-1.0239	10	0.27082	T	0.32	.	3.7621	0.08607	0.1033:0.2859:0.412:0.1989	.	354	P37059	DHB2_HUMAN	F	354	ENSP00000199936:L354F	ENSP00000199936:L354F	L	+	3	2	HSD17B2	80689440	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.741000	0.04855	-0.399000	0.07668	-0.882000	0.02950	TTG		0.473	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		14	72	1	0	0.00400662	0.004007	0.00436324	14	72				
MPHOSPH6	10200	broad.mit.edu	37	16	82197792	82197792	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:82197792T>G	ENST00000258169.4	-	2	109	c.59A>C	c.(58-60)cAa>cCa	p.Q20P	MPHOSPH6_ENST00000569021.1_Missense_Mutation_p.Q20P|MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.Q2P|MPHOSPH6_ENST00000567729.1_5'UTR	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	20					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.Q20P(1)		endometrium(1)|large_intestine(1)|lung(3)	5						CAGTCCCCTTTGCATAAACTG	0.363																																							uc002fgw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(58-60)CAA>CCA		M-phase phosphoprotein 6							57.0	60.0	59.0					16																	82197792		2199	4298	6497	SO:0001583	missense	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82197792T>G	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.59A>C	16.37:g.82197792T>G	ENSP00000258169:p.Gln20Pro						p.Q20P	NM_005792	NP_005783	Q99547	MPH6_HUMAN			2	108	-			20					B2RAF0	Missense_Mutation	SNP	ENST00000258169.4	37	c.59A>C	CCDS10937.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337594	0.81911	.	.	ENSG00000135698	ENST00000258169	T	0.47869	0.83	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.75442	-0.3316	10	0.87932	D	0	-9.0364	13.8842	0.63699	0.0:0.0:0.0:1.0	.	20	Q99547	MPH6_HUMAN	P	20	ENSP00000258169:Q20P	ENSP00000258169:Q20P	Q	-	2	0	MPHOSPH6	80755293	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.197000	0.77814	2.225000	0.72522	0.533000	0.62120	CAA		0.363	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792		8	44	0	0	0	0.004482	0	8	44				
DNAAF1	123872	broad.mit.edu	37	16	84203839	84203839	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:84203839C>T	ENST00000378553.5	+	8	1529	c.1405C>T	c.(1405-1407)Cca>Tca	p.P469S	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	469	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.P469S(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGGGACCCTCCCAGCTGAGAC	0.637																																							uc002fhl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)CCA>TCA		leucine rich repeat containing 50							51.0	50.0	50.0					16																	84203839		2199	4300	6499	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203839C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1405C>T	16.37:g.84203839C>T	ENSP00000367815:p.Pro469Ser					LRRC50_uc010vnw.1_Missense_Mutation_p.P233S	p.P469S	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			8	1586	+			469			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1405C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	13.07	2.125959	0.37533	.	.	ENSG00000154099	ENST00000378553	T	0.22539	1.95	0.622	0.622	0.17648	.	.	.	.	.	T	0.21550	0.0519	L	0.40543	1.245	0.80722	D	1	D;P	0.65815	0.995;0.941	P;B	0.51945	0.685;0.274	T	0.08106	-1.0738	8	0.13108	T	0.6	.	.	.	.	.	233;469	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	S	469	ENSP00000367815:P469S	ENSP00000367815:P469S	P	+	1	0	DNAAF1	82761340	0.031000	0.19500	0.034000	0.17996	0.259000	0.26198	-0.213000	0.09305	0.592000	0.29728	0.462000	0.41574	CCA		0.637	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		6	34	0	0	0	0.00308	0	6	34				
KCNG4	93107	broad.mit.edu	37	16	84256462	84256462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:84256462G>T	ENST00000308251.4	-	3	989	c.921C>A	c.(919-921)taC>taA	p.Y307*		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	307					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.Y307*(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCAGCGACACGTAGTATGGGG	0.642																																							uc010voc.1		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(3)	3						c.(919-921)TAC>TAA		potassium voltage-gated channel, subfamily G,							62.0	66.0	65.0					16																	84256462		2200	4300	6500	SO:0001587	stop_gained	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256462G>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.921C>A	16.37:g.84256462G>T	ENSP00000312129:p.Tyr307*						p.Y307*	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			3	1042	-			307			Helical; Name=Segment S3; (Potential).		Q96H24	Nonsense_Mutation	SNP	ENST00000308251.4	37	c.921C>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834482	0.91036	.	.	ENSG00000168418	ENST00000308251	.	.	.	5.6	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1927	0.37209	0.3139:0.0:0.6861:0.0	.	.	.	.	X	307	.	ENSP00000312129:Y307X	Y	-	3	2	KCNG4	82813963	0.998000	0.40836	1.000000	0.80357	0.780000	0.44128	0.433000	0.21477	0.573000	0.29400	0.650000	0.86243	TAC		0.642	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		4	15	1	0	0.00909568	0.009096	0.00969496	4	15				
KLHL36	79786	broad.mit.edu	37	16	84690773	84690773	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:84690773G>T	ENST00000564996.1	+	3	501	c.360G>T	c.(358-360)ctG>ctT	p.L120L	KLHL36_ENST00000258157.5_Silent_p.L120L	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	120					protein ubiquitination (GO:0016567)			p.L120L(1)		endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACTACGTCCTGGAGACGGCTC	0.607																																							uc002fig.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(358-360)CTG>CTT		kelch-like 36							81.0	75.0	77.0					16																	84690773		2199	4300	6499	SO:0001819	synonymous_variant	79786							g.chr16:84690773G>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.360G>T	16.37:g.84690773G>T						KLHL36_uc010chl.2_Silent_p.L119L	p.L120L	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN			3	501	+			120					Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	c.360G>T	CCDS10948.1																																																																																				0.607	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			12	32	1	0	1.5842e-08	0.001855	2.37548e-08	12	32				
COX4I1	1327	broad.mit.edu	37	16	85838628	85838628	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:85838628G>C	ENST00000562336.1	+	3	352	c.159G>C	c.(157-159)aaG>aaC	p.K53N	COX4I1_ENST00000561569.1_Missense_Mutation_p.K53N|COX4I1_ENST00000564903.1_Missense_Mutation_p.K53N|COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000568794.1_Missense_Mutation_p.K53N|COX4I1_ENST00000253452.2_Missense_Mutation_p.K53N			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	53					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)	p.K53N(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				CCCATGTCAAGCACCTGTCTG	0.532																																							uc002fje.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(157-159)AAG>AAC		cytochrome c oxidase subunit IV isoform 1							48.0	52.0	50.0					16																	85838628		2198	4300	6498	SO:0001583	missense	1327				respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	g.chr16:85838628G>C	AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2265	protein-coding gene	gene with protein product		123864	"""cytochrome c oxidase subunit IV"""	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.159G>C	16.37:g.85838628G>C	ENSP00000457513:p.Lys53Asn					COX4I1_uc002fjf.2_Missense_Mutation_p.K53N|COX4I1_uc002fjg.1_Missense_Mutation_p.K53N|COX4I1_uc010vom.1_5'UTR	p.K53N	NM_001861	NP_001852	P13073	COX41_HUMAN			3	323	+		Renal(780;0.228)	53					B2R4J2|D3DUM7|Q6P666	Missense_Mutation	SNP	ENST00000562336.1	37	c.159G>C	CCDS10955.1	.	.	.	.	.	.	.	.	.	.	G	8.819	0.937006	0.18206	.	.	ENSG00000131143	ENST00000253452	T	0.56776	0.44	4.8	3.82	0.43975	.	0.555807	0.20743	N	0.086509	T	0.52451	0.1735	M	0.62723	1.935	0.09310	N	1	P;B	0.42010	0.768;0.259	P;B	0.44897	0.463;0.176	T	0.51834	-0.8655	10	0.62326	D	0.03	-10.0315	8.9891	0.36012	0.2258:0.0:0.7742:0.0	.	53;53	Q86WV2;P13073	.;COX41_HUMAN	N	53	ENSP00000253452:K53N	ENSP00000253452:K53N	K	+	3	2	COX4I1	84396129	0.352000	0.24895	0.025000	0.17156	0.377000	0.30045	3.389000	0.52516	2.376000	0.81061	0.643000	0.83706	AAG		0.532	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430873.1	NM_001861		7	23	0	0	0	0.001984	0	7	23				
P2RX5	5026	broad.mit.edu	37	17	3593445	3593445	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:3593445C>A	ENST00000225328.5	-	6	932		c.e6-1		P2RX5_ENST00000345901.3_Splice_Site|P2RX5-TAX1BP3_ENST00000550383.1_Splice_Site|P2RX5_ENST00000552050.1_Splice_Site|P2RX5_ENST00000550772.1_Splice_Site|P2RX5_ENST00000547178.1_Splice_Site|P2RX5_ENST00000435558.1_Splice_Site|P2RX5_ENST00000552276.1_Splice_Site|P2RX5_ENST00000551178.1_Splice_Site	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GAATGGCTCCCTGAAAACCAA	0.577																																							uc002fwi.2		NA																	1	Unknown(1)		lung(1)		0						c.e6-1		purinergic receptor P2X5 isoform A							117.0	131.0	126.0					17																	3593445		2203	4300	6503	SO:0001630	splice_region_variant	5026				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3593445C>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.534-1G>T	17.37:g.3593445C>A						P2RX5_uc002fwd.2_Splice_Site|P2RX5_uc002fwh.1_Splice_Site_p.E178_splice|P2RX5_uc010vrx.1_Splice_Site_p.E118_splice|P2RX5_uc002fwj.2_Splice_Site_p.E154_splice|P2RX5_uc002fwk.2_Splice_Site_p.E178_splice|P2RX5_uc002fwl.2_Splice_Site_p.E154_splice	p.E178_splice	NM_002561	NP_002552	Q93086	P2RX5_HUMAN			6	818	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Splice_Site	SNP	ENST00000225328.5	37	c.534_splice	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063160	0.76187	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050;ENST00000552723	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4056	0.90535	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	P2RX5	3540194	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.616000	0.83018	2.658000	0.90341	0.655000	0.94253	.		0.577	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081	Intron	29	79	1	0	3.65163e-15	0.00632	6.37502e-15	29	79				
PFN1	5216	broad.mit.edu	37	17	4851651	4851651	+	Silent	SNP	C	C	A	rs369165495		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:4851651C>A	ENST00000225655.5	-	1	658	c.39G>T	c.(37-39)gcG>gcT	p.A13A	ENO3_ENST00000323997.6_5'Flank|PFN1_ENST00000574872.1_5'Flank|ENO3_ENST00000519584.1_5'Flank	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	13					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)	p.A13A(1)		NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						AGGTCCCGTCCGCCATGAGGT	0.682																																							uc002gaa.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)GCG>GCT		profilin 1							43.0	37.0	39.0					17																	4851651		2203	4299	6502	SO:0001819	synonymous_variant	5216				actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	g.chr17:4851651C>A	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.39G>T	17.37:g.4851651C>A						PFN1_uc002fzz.2_5'Flank|ENO3_uc010vsr.1_5'Flank|ENO3_uc002gab.3_5'Flank|ENO3_uc002gac.3_5'Flank|ENO3_uc010vss.1_5'Flank	p.A13A	NM_005022	NP_005013	P07737	PROF1_HUMAN			1	175	-			13					Q53Y44	Silent	SNP	ENST00000225655.5	37	c.39G>T	CCDS11061.1																																																																																				0.682	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022		7	11	1	0	2.0095e-06	0.001984	2.69165e-06	7	11				
ENO3	2027	broad.mit.edu	37	17	4856631	4856631	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:4856631A>G	ENST00000323997.6	+	5	437	c.305A>G	c.(304-306)aAt>aGt	p.N102S	ENO3_ENST00000519584.1_Intron|ENO3_ENST00000518175.1_Missense_Mutation_p.N102S	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	102					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.N102S(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGGACCGAGAATAAGTGTGAG	0.517																																							uc002gab.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)AAT>AGT		enolase 3							112.0	116.0	115.0					17																	4856631		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4856631A>G	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.305A>G	17.37:g.4856631A>G	ENSP00000324105:p.Asn102Ser					ENO3_uc010vsr.1_Missense_Mutation_p.N9S|ENO3_uc002gac.3_Missense_Mutation_p.N102S|ENO3_uc010vss.1_Intron|ENO3_uc010vst.1_5'Flank	p.N102S	NM_053013	NP_443739	P13929	ENOB_HUMAN			5	399	+			102					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.305A>G	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097543	0.76870	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000518175	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	H	0.95679	3.705	0.58432	D	0.999997	B;B	0.33512	0.199;0.415	B;B	0.41666	0.245;0.363	T	0.69000	-0.5261	10	0.87932	D	0	-11.0648	14.1508	0.65384	1.0:0.0:0.0:0.0	.	9;102	D3DTL4;D3DTL2	.;.	S	102	ENSP00000428502:N102S;ENSP00000430055:N102S;ENSP00000324105:N102S;ENSP00000428811:N102S;ENSP00000431087:N102S	ENSP00000324105:N102S	N	+	2	0	ENO3	4797377	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.287000	0.95975	2.288000	0.76882	0.533000	0.62120	AAT		0.517	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			18	40	0	0	0	0.00499	0	18	40				
FBXO39	162517	broad.mit.edu	37	17	6683885	6683885	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:6683885A>T	ENST00000321535.4	+	2	828	c.698A>T	c.(697-699)tAc>tTc	p.Y233F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	233								p.Y233F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AACCTCAACTACAACTGTATC	0.502																																							uc010vtg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(697-699)TAC>TTC		F-box protein 39							95.0	85.0	88.0					17																	6683885		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6683885A>T	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.698A>T	17.37:g.6683885A>T	ENSP00000321386:p.Tyr233Phe						p.Y233F	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN			2	818	+			233						Missense_Mutation	SNP	ENST00000321535.4	37	c.698A>T	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717388	0.68844	.	.	ENSG00000177294	ENST00000321535	T	0.52983	0.64	5.02	5.02	0.67125	.	0.000000	0.53938	D	0.000047	T	0.52581	0.1743	L	0.34521	1.04	0.39272	D	0.964408	D	0.63880	0.993	D	0.68192	0.956	T	0.48234	-0.9053	10	0.19590	T	0.45	-38.9639	11.7215	0.51685	1.0:0.0:0.0:0.0	.	233	Q8N4B4	FBX39_HUMAN	F	233	ENSP00000321386:Y233F	ENSP00000321386:Y233F	Y	+	2	0	FBXO39	6624609	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.062000	0.71155	2.188000	0.69820	0.528000	0.53228	TAC		0.502	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		8	50	0	0	0	0.00308	0	8	50				
NLGN2	57555	broad.mit.edu	37	17	7317710	7317710	+	Missense_Mutation	SNP	G	G	T	rs201481724		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:7317710G>T	ENST00000302926.2	+	3	629	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C	NLGN2_ENST00000575301.1_Missense_Mutation_p.G186C	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	186					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.G186C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TCTCCATGGCGGCTCCTACAT	0.597																																							uc002ggt.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(556-558)GGC>TGC		neuroligin 2 precursor							70.0	65.0	66.0					17																	7317710		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7317710G>T	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.556G>T	17.37:g.7317710G>T	ENSP00000305288:p.Gly186Cys						p.G186C	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN			3	629	+		Prostate(122;0.157)	186			Extracellular (Potential).		Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.556G>T	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747514	0.69533	.	.	ENSG00000169992	ENST00000302926	D	0.93604	-3.25	4.6	4.6	0.57074	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99191	1.0870	10	0.87932	D	0	.	14.9685	0.71213	0.0:0.0:1.0:0.0	.	186	Q8NFZ4	NLGN2_HUMAN	C	186	ENSP00000305288:G186C	ENSP00000305288:G186C	G	+	1	0	NLGN2	7258434	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	9.593000	0.98250	2.405000	0.81733	0.455000	0.32223	GGC		0.597	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		6	23	1	0	0.000157383	0.00308	0.000187214	6	23				
POLR2A	5430	broad.mit.edu	37	17	7406782	7406782	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:7406782G>A	ENST00000322644.6	+	18	3406	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1003					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.D1003N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCTTCCCTCCGACCTGCACCC	0.567																																							uc002ghf.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(3007-3009)GAC>AAC		DNA-directed RNA polymerase II A							67.0	62.0	64.0					17																	7406782		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7406782G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3007G>A	17.37:g.7406782G>A	ENSP00000314949:p.Asp1003Asn						p.D1003N	NM_000937	NP_000928	P24928	RPB1_HUMAN			18	3241	+		Prostate(122;0.173)	1003					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3007G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580954	0.86748	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.69806	-0.43	5.55	4.59	0.56863	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.72118	2.19	0.80722	D	1	P	0.40431	0.717	B	0.42738	0.396	T	0.72225	-0.4355	10	0.52906	T	0.07	-18.8995	13.3674	0.60692	0.0763:0.0:0.9237:0.0	.	1003	P24928	RPB1_HUMAN	N	959;1003	ENSP00000314949:D1003N	ENSP00000314949:D1003N	D	+	1	0	SLC35G6	7347506	1.000000	0.71417	0.972000	0.41901	0.890000	0.51754	8.828000	0.92047	1.593000	0.50029	0.655000	0.94253	GAC		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		6	22	0	0	0	0.00308	0	6	22				
CNTROB	116840	broad.mit.edu	37	17	7838353	7838353	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:7838353C>T	ENST00000563694.1	+	4	1409	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	CNTROB_ENST00000380262.3_Silent_p.L162L|CNTROB_ENST00000380255.3_Silent_p.L162L|CNTROB_ENST00000565740.1_Silent_p.L162L	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	162					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.L162L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGCCCAAGCCCTGGAGGAGCT	0.552																																							uc002gjq.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(484-486)CTG>TTG		centrobin, centrosomal BRCA2 interacting protein							74.0	74.0	74.0					17																	7838353		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7838353C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.484C>T	17.37:g.7838353C>T						CNTROB_uc002gjp.2_Silent_p.L162L|CNTROB_uc002gjr.2_Silent_p.L64L|CNTROB_uc010vum.1_5'Flank	p.L162L	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			5	1403	+		Prostate(122;0.173)	162					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.484C>T	CCDS11126.1																																																																																				0.552	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		10	45	0	0	0	0.006214	0	10	45				
CCDC42	146849	broad.mit.edu	37	17	8647024	8647024	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:8647024G>A	ENST00000293845.3	-	3	440	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	CCDC42_ENST00000539522.2_Silent_p.L72L	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	72								p.L72L(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CGCAGGTTCAGGGTTTCCATT	0.577																																							uc002gln.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(214-216)CTG>TTG		coiled-coil domain containing 42 isoform 1							73.0	62.0	66.0					17																	8647024		2203	4300	6503	SO:0001819	synonymous_variant	146849							g.chr17:8647024G>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.214C>T	17.37:g.8647024G>A						CCDC42_uc002glo.2_Silent_p.L72L	p.L72L	NM_144681	NP_653282	Q96M95	CCD42_HUMAN			3	441	-			72			Potential.		Q8N6Q0	Silent	SNP	ENST00000293845.3	37	c.214C>T	CCDS11145.1																																																																																				0.577	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		7	12	0	0	0	0.00308	0	7	12				
GAS7	8522	broad.mit.edu	37	17	9923093	9923093	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:9923093C>A	ENST00000432992.2	-	2	465		c.e2+1		GAS7_ENST00000437099.2_Splice_Site|GAS7_ENST00000540214.1_Splice_Site|GAS7_ENST00000585266.1_Splice_Site|GAS7_ENST00000542249.1_Splice_Site|GAS7_ENST00000396115.2_Splice_Site|GAS7_ENST00000323816.4_Splice_Site|GAS7_ENST00000578655.1_Splice_Site|GAS7_ENST00000579158.1_Splice_Site	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7						actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCGGGACTCACCATTGGTGGT	0.607			T	MLL	AML*																																		uc002gmg.1		NA		Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		1	Unknown(1)		lung(1)	lung(1)|pancreas(1)	2						c.e2+1		growth arrest-specific 7 isoform c							57.0	59.0	58.0					17																	9923093		2203	4300	6503	SO:0001630	splice_region_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9923093C>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.304+1G>T	17.37:g.9923093C>A						GAS7_uc010vvd.1_Intron|GAS7_uc002gmi.2_Splice_Site_p.E38_splice|GAS7_uc002gmj.1_Splice_Site_p.E42_splice|GAS7_uc010coh.1_Splice_Site_p.E42_splice	p.E102_splice	NM_201433	NP_958839	O60861	GAS7_HUMAN			2	465	-								A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Splice_Site	SNP	ENST00000432992.2	37	c.304_splice	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423949	0.62733	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000540214;ENST00000537970	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3829	0.74673	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAS7	9863818	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.425000	0.59875	2.620000	0.88729	0.563000	0.77884	.		0.607	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433	Intron	8	37	1	0	7.48243e-07	0.006214	1.03265e-06	8	37				
MYH1	4619	broad.mit.edu	37	17	10404645	10404645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:10404645C>A	ENST00000226207.5	-	27	3614	c.3520G>T	c.(3520-3522)Gag>Tag	p.E1174*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1174					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCTGGAACTCAGCCTCCCGC	0.607																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3520-3522)GAG>TAG		myosin, heavy chain 1, skeletal muscle, adult							88.0	96.0	94.0					17																	10404645		2203	4300	6503	SO:0001587	stop_gained	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404645C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3520G>T	17.37:g.10404645C>A	ENSP00000226207:p.Glu1174*					uc002gml.1_Intron	p.E1174*	NM_005963	NP_005954	P12882	MYH1_HUMAN			27	3614	-			1174			Potential.		Q14CA4|Q9Y622	Nonsense_Mutation	SNP	ENST00000226207.5	37	c.3520G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	42	9.511557	0.99192	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.51	4.54	0.55810	.	0.000000	0.43579	U	0.000545	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.9162	0.70798	0.0:0.9309:0.0:0.0691	.	.	.	.	X	1174	.	ENSP00000226207:E1174X	E	-	1	0	MYH1	10345370	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	5.949000	0.70257	1.468000	0.48064	0.650000	0.86243	GAG		0.607	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		23	83	1	0	2.98393e-07	0.00278	4.20989e-07	23	83				
MYH2	4620	broad.mit.edu	37	17	10435163	10435163	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:10435163C>A	ENST00000245503.5	-	22	2868	c.2484G>T	c.(2482-2484)atG>atT	p.M828I	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.M828I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	828					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.M828I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTTGACATTCATGAAGGATC	0.418																																							uc010coi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2482-2484)ATG>ATT		myosin heavy chain IIa							108.0	101.0	104.0					17																	10435163		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10435163C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2484G>T	17.37:g.10435163C>A	ENSP00000245503:p.Met828Ile					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.M828I|MYH2_uc010coj.2_Intron	p.M828I	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			22	2612	-			828					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2484G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531044	0.45073	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.71103	-0.54;-0.54	4.84	4.84	0.62591	.	0.000000	0.47852	U	0.000220	T	0.75722	0.3888	M	0.80183	2.485	0.58432	D	0.999998	B	0.23128	0.08	B	0.30782	0.12	T	0.75235	-0.3389	10	0.48119	T	0.1	.	18.1357	0.89618	0.0:1.0:0.0:0.0	.	828	Q9UKX2	MYH2_HUMAN	I	828	ENSP00000245503:M828I;ENSP00000380367:M828I	ENSP00000245503:M828I	M	-	3	0	MYH2	10375888	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	7.638000	0.83328	2.517000	0.84864	0.655000	0.94253	ATG		0.418	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		16	49	1	0	2.32078e-09	0.003163	3.57952e-09	16	49				
NOS2	4843	broad.mit.edu	37	17	26092683	26092683	+	Missense_Mutation	SNP	G	G	T	rs375448100		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:26092683G>T	ENST00000313735.6	-	20	2539	c.2306C>A	c.(2305-2307)cCg>cAg	p.P769Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	769	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.P769Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GTGCTCCCCCGGCAGGTAGTT	0.622																																							uc002gzu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(2305-2307)CCG>CAG		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						31.0	35.0	34.0					17																	26092683		2203	4299	6502	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26092683G>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2306C>A	17.37:g.26092683G>T	ENSP00000327251:p.Pro769Gln						p.P769Q	NM_000625	NP_000616	P35228	NOS2_HUMAN			20	2570	-			769			FAD (By similarity).|FAD-binding FR-type.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.2306C>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922376	0.73213	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.38560	1.13	5.19	5.19	0.71726	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84831	0.0802	10	0.87932	D	0	.	17.778	0.88515	0.0:0.0:1.0:0.0	.	769	P35228	NOS2_HUMAN	Q	769;730	ENSP00000327251:P769Q	ENSP00000327251:P769Q	P	-	2	0	NOS2	23116810	1.000000	0.71417	0.951000	0.38953	0.355000	0.29361	9.167000	0.94773	2.444000	0.82710	0.456000	0.33151	CCG		0.622	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		8	29	1	0	0.000274275	0.004482	0.000319476	8	29				
ALDOC	230	broad.mit.edu	37	17	26902193	26902193	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:26902193C>A	ENST00000226253.4	-	3	747	c.272G>T	c.(271-273)gGt>gTt	p.G91V	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Missense_Mutation_p.G91V|ALDOC_ENST00000395319.3_Missense_Mutation_p.G91V	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	91					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)	p.G91V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GAAGGGAACACCATTATCATC	0.522											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002hbp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)GGT>GTT		fructose-bisphosphate aldolase C							84.0	81.0	82.0					17																	26902193		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26902193C>A	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.272G>T	17.37:g.26902193C>A	ENSP00000226253:p.Gly91Val		OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	ALDOC_uc010cro.2_Missense_Mutation_p.G91V	p.G91V	NM_005165	NP_005156	P09972	ALDOC_HUMAN			3	417	-	Lung NSC(42;0.00431)		91					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.272G>T	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005304	0.35415	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	6.17	5.21	0.72293	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.99;0.989	D	0.99293	1.0899	10	0.87932	D	0	.	14.308	0.66397	0.0:0.9285:0.0:0.0715	.	91;91	A8MVZ9;P09972	.;ALDOC_HUMAN	V	91	ENSP00000378729:G91V;ENSP00000226253:G91V;ENSP00000378731:G91V;ENSP00000398976:G91V	ENSP00000226253:G91V	G	-	2	0	ALDOC	23926320	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.976000	0.63785	1.631000	0.50456	0.655000	0.94253	GGT		0.522	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			9	25	1	0	5.4927e-09	0.004482	8.34799e-09	9	25				
KIAA0100	9703	broad.mit.edu	37	17	26938634	26938634	+	IGR	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:26938634C>A	ENST00000528896.2	-	0	7407				SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000534850.1_3'UTR|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000301037.5_Silent_p.V254V|RP11-192H23.6_ENST00000579019.2_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)		p.V254V(1)|p.V293V(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTCCCTGGGGCACGTGGCGGG	0.498																																							uc002hbr.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(760-762)GTG>GTT		uncharacterized serine/threonine-protein kinase							165.0	140.0	149.0					17																	26938634		2203	4300	6503	SO:0001628	intergenic_variant	124923							g.chr17:26938634C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26938634C>A						SGK494_uc010waq.1_Intron|SGK494_uc010war.1_Intron|uc010crq.1_5'Flank|uc002hbs.1_5'Flank	p.V254V	NM_144610	NP_653211					9	794	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.762G>T	CCDS32595.1																																																																																				0.498	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		29	85	1	0	3.57733e-08	0.009535	5.26652e-08	29	85				
MYO1D	4642	broad.mit.edu	37	17	30986161	30986161	+	Missense_Mutation	SNP	C	C	T	rs563094839		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:30986161C>T	ENST00000318217.5	-	17	2621	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	MYO1D_ENST00000394649.4_Missense_Mutation_p.E685K|MYO1D_ENST00000579584.1_Missense_Mutation_p.E773K|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	773					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E773K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGGGCCTCCTCAAAACGGCGA	0.517											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002hho.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2317-2319)GAG>AAG		myosin ID							115.0	99.0	104.0					17																	30986161		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986161C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2317G>A	17.37:g.30986161C>T	ENSP00000324527:p.Glu773Lys		OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_uc002hhp.1_Missense_Mutation_p.E773K	p.E773K	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2329	-			773					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2317G>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	2.799	-0.249621	0.05867	.	.	ENSG00000176658	ENST00000318217	D	0.87103	-2.21	6.07	4.05	0.47172	.	0.180420	0.25714	U	0.028794	D	0.83613	0.5292	M	0.68952	2.095	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.76058	-0.3098	10	0.07175	T	0.84	.	14.5651	0.68171	0.0:0.5766:0.4234:0.0	.	684;773	Q7Z3N6;O94832	.;MYO1D_HUMAN	K	773	ENSP00000324527:E773K	ENSP00000324527:E773K	E	-	1	0	MYO1D	28010274	0.998000	0.40836	0.725000	0.30721	0.010000	0.07245	3.930000	0.56522	0.868000	0.35678	-0.176000	0.13171	GAG		0.517	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			10	52	0	0	0	0.006214	0	10	52				
TMEM132E	124842	broad.mit.edu	37	17	32954040	32954040	+	Missense_Mutation	SNP	C	C	G	rs150343983	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:32954040C>G	ENST00000321639.5	+	3	1020	c.692C>G	c.(691-693)tCg>tGg	p.S231W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	231						integral component of membrane (GO:0016021)		p.S231W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AACTCCTCCTCGCCCTCCAGC	0.597																																							uc002hif.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(691-693)TCG>TGG		transmembrane protein 132E precursor							63.0	62.0	62.0					17																	32954040		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32954040C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.692C>G	17.37:g.32954040C>G	ENSP00000316532:p.Ser231Trp						p.S231W	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	3	1020	+			231			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.692C>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202378	0.58234	.	.	ENSG00000181291	ENST00000321639	T	0.19250	2.16	4.82	4.82	0.62117	.	0.357742	0.20668	N	0.087884	T	0.26231	0.0640	L	0.36672	1.1	0.26727	N	0.970662	P	0.47409	0.895	P	0.49922	0.626	T	0.05699	-1.0869	10	0.72032	D	0.01	-6.1383	13.2774	0.60194	0.0:1.0:0.0:0.0	.	231	Q6IEE7	T132E_HUMAN	W	231	ENSP00000316532:S231W	ENSP00000316532:S231W	S	+	2	0	TMEM132E	29978153	0.979000	0.34478	0.078000	0.20375	0.752000	0.42762	3.215000	0.51169	2.484000	0.83849	0.442000	0.29010	TCG		0.597	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		7	44	0	0	0	0.00308	0	7	44				
TMEM132E	124842	broad.mit.edu	37	17	32956090	32956090	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:32956090G>T	ENST00000321639.5	+	5	1263	c.935G>T	c.(934-936)aGc>aTc	p.S312I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	312						integral component of membrane (GO:0016021)		p.S312I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AACTTCACCAGCCAGTCAGTC	0.607																																							uc002hif.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(934-936)AGC>ATC		transmembrane protein 132E precursor							98.0	93.0	95.0					17																	32956090		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32956090G>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.935G>T	17.37:g.32956090G>T	ENSP00000316532:p.Ser312Ile						p.S312I	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1263	+			312			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.935G>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	g	17.20	3.329952	0.60743	.	.	ENSG00000181291	ENST00000321639	T	0.20881	2.04	4.51	4.51	0.55191	.	1.482580	0.03576	N	0.229348	T	0.52008	0.1708	M	0.71036	2.16	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.14392	-1.0474	10	0.54805	T	0.06	-29.9625	16.7679	0.85528	0.0:0.0:1.0:0.0	.	312	Q6IEE7	T132E_HUMAN	I	312	ENSP00000316532:S312I	ENSP00000316532:S312I	S	+	2	0	TMEM132E	29980203	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	9.346000	0.97056	2.502000	0.84385	0.447000	0.29281	AGC		0.607	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		14	67	1	0	7.93312e-07	0.00245	1.09071e-06	14	67				
TAF15	8148	broad.mit.edu	37	17	34171871	34171871	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:34171871G>T	ENST00000588240.1	+	15	1683	c.1568G>T	c.(1567-1569)gGa>gTa	p.G523V	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.G520V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G523V(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggaggctatggaggagACAGA	0.612			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																		uc002hkd.2		NA		Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	TEC|CHN1|ZNF384		extraskeletal myxoid chondrosarcomas|ALL	TAF15/NR4A3(33)	1	Substitution - Missense(1)		lung(1)	bone(33)|lung(1)|skin(1)	35						c.(1567-1569)GGA>GTA		TBP-associated factor 15 isoform 1							77.0	78.0	78.0					17																	34171871		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171871G>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1568G>T	17.37:g.34171871G>T	ENSP00000466950:p.Gly523Val					TAF15_uc002hkc.2_Missense_Mutation_p.G520V	p.G523V	NM_139215	NP_631961	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1654	+		Ovarian(249;0.17)	523			Arg/Gly-rich.|15.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1568G>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859870	0.51482	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	T	0.61578	0.2358	L	0.46157	1.445	0.54753	D	0.999982	P;D	0.55385	0.952;0.971	P;P	0.52343	0.5;0.696	T	0.67229	-0.5723	8	0.87932	D	0	-0.2498	14.2997	0.66339	0.0:0.0:1.0:0.0	.	523;520	Q92804;Q92804-2	RBP56_HUMAN;.	V	523;326	.	ENSP00000309558:G523V	G	+	2	0	TAF15	31195984	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	4.878000	0.63093	2.163000	0.67991	0.591000	0.81541	GGA		0.612	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		5	22	1	0	0.000602214	0.000602	0.000682885	5	22				
MLLT6	4302	broad.mit.edu	37	17	36861986	36861986	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:36861986T>A	ENST00000325718.7	+	1	192	c.101T>A	c.(100-102)gTc>gAc	p.V34D	MLLT6_ENST00000378137.5_Missense_Mutation_p.V34D|CTB-58E17.3_ENST00000583409.1_RNA|CTB-58E17.1_ENST00000563897.1_lincRNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	34					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V34D(1)		breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGCGTGGTCGTCCACCAAGGT	0.746			T	MLL	AL																																		uc002hqi.3		NA		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		1	Substitution - Missense(1)		lung(1)	breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(100-102)GTC>GAC		myeloid/lymphoid or mixed-lineage leukemia							39.0	35.0	36.0					17																	36861986		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36861986T>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.101T>A	17.37:g.36861986T>A	ENSP00000316426:p.Val34Asp					MLLT6_uc010wdr.1_Missense_Mutation_p.V34D|MLLT6_uc010cvm.1_Missense_Mutation_p.V34D	p.V34D	NM_005937	NP_005928	P55198	AF17_HUMAN			1	114	+	Breast(7;4.43e-21)		34			PHD-type 1.		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.101T>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993663	0.54041	.	.	ENSG00000108292	ENST00000325718;ENST00000378137	D;D	0.88586	-2.4;-2.4	3.32	3.32	0.38043	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.196402	0.33180	N	0.005199	D	0.95401	0.8507	H	0.96301	3.8	0.80722	D	1	D;D;P	0.53885	0.963;0.963;0.91	D;D;B	0.67103	0.949;0.949;0.446	D	0.95503	0.8579	10	0.87932	D	0	.	9.9545	0.41657	0.0:0.0:0.0:1.0	.	34;34;34	E9PEP1;Q6P2C6;P55198	.;.;AF17_HUMAN	D	34	ENSP00000316426:V34D;ENSP00000367377:V34D	ENSP00000316426:V34D	V	+	2	0	MLLT6	34115512	1.000000	0.71417	0.890000	0.34922	0.538000	0.34931	5.049000	0.64244	1.513000	0.48852	0.172000	0.16884	GTC		0.746	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		7	28	0	0	0	0.00308	0	7	28				
CDK12	51755	broad.mit.edu	37	17	37676281	37676281	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:37676281A>G	ENST00000447079.4	+	11	3069	c.3036A>G	c.(3034-3036)gaA>gaG	p.E1012E	CDK12_ENST00000430627.2_Silent_p.E1012E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1012	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E1012E(1)|p.T1014_Q1016del(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCACAGCTGAACAGACCCTAC	0.463			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													uc010cvv.2		NA		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					2	Substitution - coding silent(1)|Deletion - In frame(1)	p.T1014_Q1016del(1)	ovary(1)|lung(1)	ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(3034-3036)GAA>GAG		Cdc2-related kinase, arginine/serine-rich							197.0	165.0	176.0					17																	37676281		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37676281A>G	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3036A>G	17.37:g.37676281A>G		TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Silent_p.E1011E|CDK12_uc002hrw.3_Silent_p.E1012E	p.E1012E	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			11	3622	+			1012			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.3036A>G	CCDS11337.1																																																																																				0.463	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		16	80	0	0	0	0.006122	0	16	80				
KRT25	147183	broad.mit.edu	37	17	38910703	38910703	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:38910703G>A	ENST00000312150.4	-	2	507	c.447C>T	c.(445-447)acC>acT	p.T149T		NM_181534.3	NP_853512.1			keratin 25									p.T149T(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TAGCATTGCTGGTGGTGGATG	0.383																																							uc002hve.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(445-447)ACC>ACT		keratin 25							132.0	128.0	129.0					17																	38910703		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910703G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.447C>T	17.37:g.38910703G>A							p.T149T	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			2	508	-		Breast(137;0.00526)	149			Rod.|Coil 1B.			Silent	SNP	ENST00000312150.4	37	c.447C>T	CCDS11373.1																																																																																				0.383	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		7	50	0	0	0	0.004482	0	7	50				
KRTAP4-4	84616	broad.mit.edu	37	17	39316515	39316515	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:39316515G>T	ENST00000390661.3	-	1	468	c.429C>A	c.(427-429)acC>acA	p.T143T		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	143	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)		p.T143T(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCAGCAGGTGGTTCTGCAGC	0.632																																							uc002hwc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)ACC>ACA		keratin associated protein 4.4							41.0	48.0	46.0					17																	39316515		2194	4296	6490	SO:0001819	synonymous_variant	84616					keratin filament		g.chr17:39316515G>T	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.429C>A	17.37:g.39316515G>T							p.T143T	NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	469	-		Breast(137;0.000496)	143			26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].|24.		Q9BYU7	Silent	SNP	ENST00000390661.3	37	c.429C>A	CCDS11383.1																																																																																				0.632	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			11	36	1	0	0.000673444	0.008291	0.000757755	11	36				
KRTAP9-8	83901	broad.mit.edu	37	17	39394396	39394396	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:39394396C>T	ENST00000254072.6	+	1	100	c.93C>T	c.(91-93)ccC>ccT	p.P31P		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	31	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)		p.P31P(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCAGCACACCCTGCTGCCAGC	0.617																																							uc002hwh.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(91-93)CCC>CCT		keratin associated protein 9.8							76.0	90.0	85.0					17																	39394396		2099	4297	6396	SO:0001819	synonymous_variant	83901					keratin filament		g.chr17:39394396C>T	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.93C>T	17.37:g.39394396C>T						KRTAP9-9_uc010wfq.1_Intron	p.P31P	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	127	+		Breast(137;0.000496)	31			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Silent	SNP	ENST00000254072.6	37	c.93C>T	CCDS42334.1																																																																																				0.617	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			9	60	0	0	0	0.008291	0	9	60				
KRT33B	3884	broad.mit.edu	37	17	39521116	39521116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:39521116C>A	ENST00000251646.3	-	6	1061	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	338	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E338*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACCTGATACTCCTGGTTCTGC	0.642																																							uc002hwl.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1012-1014)GAG>TAG		type I hair keratin 3B							60.0	68.0	65.0					17																	39521116		2189	4297	6486	SO:0001587	stop_gained	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521116C>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.1012G>T	17.37:g.39521116C>A	ENSP00000251646:p.Glu338*						p.E338*	NM_002279	NP_002270	Q14525	KT33B_HUMAN			6	1057	-		Breast(137;0.000496)	338			Coil 2.|Rod.		O76010	Nonsense_Mutation	SNP	ENST00000251646.3	37	c.1012G>T	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	36	5.871722	0.97049	.	.	ENSG00000131738	ENST00000251646	.	.	.	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.494	0.87712	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	ENSP00000251646:E338X	E	-	1	0	KRT33B	36774642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.818000	0.69236	2.666000	0.90696	0.650000	0.86243	GAG		0.642	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		8	63	1	0	2.80697e-09	0.000978	4.31569e-09	8	63				
KRT34	3885	broad.mit.edu	37	17	39535402	39535402	+	Silent	SNP	C	C	T	rs148874673		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:39535402C>T	ENST00000394001.1	-	6	1059	c.1029G>A	c.(1027-1029)acG>acA	p.T343T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	343	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.T343T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CCTCGCTCTCCGTCAGCGTGT	0.572													c|||	1	0.000199681	0.0008	0.0	5008	,	,		22830	0.0		0.0	False		,,,				2504	0.0						uc002hwm.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1027-1029)ACG>ACA		keratin 34		T		6,4400	9.9+/-24.2	0,6,2197	82.0	74.0	77.0		1029	-9.8	0.0	17	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT34	NM_021013.3		0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538		343/437	39535402	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535402C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1029G>A	17.37:g.39535402C>T							p.T343T	NM_021013	NP_066293	O76011	KRT34_HUMAN			6	1041	-		Breast(137;0.000496)	343			Rod.|Coil 2.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.1029G>A	CCDS11390.1																																																																																				0.572	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		4	42	0	0	0	0.009096	0	4	42				
AOC3	8639	broad.mit.edu	37	17	41004452	41004452	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:41004452C>A	ENST00000308423.2	+	1	1252	c.1092C>A	c.(1090-1092)agC>agA	p.S364R	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	364					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.S364R(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ATGAGATAAGCCTCCAAGAGG	0.537																																					NSCLC(3;192 220 10664 11501 16477)	NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1090-1092)AGC>AGA		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						80.0	74.0	76.0					17																	41004452		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004452C>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1092C>A	17.37:g.41004452C>A	ENSP00000312326:p.Ser364Arg						p.S364R	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1252	+		Breast(137;0.000143)	364			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1092C>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758794	0.31137	.	.	ENSG00000131471	ENST00000308423	T	0.04809	3.55	4.4	0.0603	0.14335	Copper amine oxidase, C-terminal (3);	0.046428	0.85682	D	0.000000	T	0.23766	0.0575	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03221	-1.1059	10	0.87932	D	0	.	9.8486	0.41043	0.0:0.5413:0.0:0.4587	.	364	Q16853	AOC3_HUMAN	R	364	ENSP00000312326:S364R	ENSP00000312326:S364R	S	+	3	2	AOC3	38257978	0.000000	0.05858	0.985000	0.45067	0.217000	0.24651	-0.123000	0.10611	-0.016000	0.14127	0.591000	0.81541	AGC		0.537	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		12	54	1	0	6.40141e-05	0.000978	7.85211e-05	12	54				
NBR1	4077	broad.mit.edu	37	17	41352478	41352478	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:41352478A>T	ENST00000422280.1	+	17	2780	c.2321A>T	c.(2320-2322)cAg>cTg	p.Q774L	NBR1_ENST00000542611.1_Missense_Mutation_p.Q753L|NBR1_ENST00000590996.1_Missense_Mutation_p.Q774L|NBR1_ENST00000589872.1_Missense_Mutation_p.Q774L|NBR1_ENST00000389312.4_Missense_Mutation_p.Q774L|NBR1_ENST00000341165.6_Missense_Mutation_p.Q774L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	774					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.Q774L(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAGGCTGGGCAGGAACCAGCT	0.607																																							uc010czd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2320-2322)CAG>CTG		neighbor of BRCA1 gene 1							24.0	23.0	24.0					17																	41352478		1568	3582	5150	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41352478A>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2321A>T	17.37:g.41352478A>T	ENSP00000411250:p.Gln774Leu					NBR1_uc010diz.2_Missense_Mutation_p.Q774L|NBR1_uc010whu.1_Missense_Mutation_p.Q774L|NBR1_uc010whv.1_Missense_Mutation_p.Q774L|NBR1_uc010whw.1_Missense_Mutation_p.Q753L	p.Q774L	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	17	2461	+		Breast(137;0.00086)	774					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.2321A>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	A	3.758	-0.050122	0.07407	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000537493;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.44083	1.52;0.93;1.52;1.52	5.36	1.59	0.23543	.	.	.	.	.	T	0.24044	0.0582	N	0.17474	0.49	0.09310	N	1	B;B;B	0.13145	0.0;0.007;0.0	B;B;B	0.11329	0.001;0.006;0.001	T	0.19386	-1.0307	9	0.33141	T	0.24	-3.3916	6.242	0.20795	0.4917:0.2708:0.0:0.2375	.	753;774;774	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	L	774;753;25;774;774;774	ENSP00000411250:Q774L;ENSP00000437545:Q753L;ENSP00000343479:Q774L;ENSP00000373963:Q774L	ENSP00000343479:Q774L	Q	+	2	0	NBR1	38708004	0.995000	0.38212	0.999000	0.59377	0.130000	0.20726	0.211000	0.17474	0.306000	0.22856	-0.461000	0.05368	CAG		0.607	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		5	13	0	0	0	0.001168	0	5	13				
GFAP	2670	broad.mit.edu	37	17	42992785	42992785	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:42992785C>A	ENST00000253408.5	-	1	135	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C	GFAP_ENST00000435360.2_Missense_Mutation_p.G24C|GFAP_ENST00000586793.1_Missense_Mutation_p.G24C|GFAP_ENST00000588735.1_Missense_Mutation_p.G24C|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	24	Head.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.G24C(2)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GGAGCCAGGCCCCCCACCATC	0.692																																							uc002ihq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(70-72)GGC>TGC		glial fibrillary acidic protein isoform 1							15.0	19.0	18.0					17																	42992785		2199	4295	6494	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992785C>A	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.70G>T	17.37:g.42992785C>A	ENSP00000253408:p.Gly24Cys					GFAP_uc002ihr.2_Missense_Mutation_p.G24C|GFAP_uc010wjg.1_RNA	p.G24C	NM_002055	NP_002046	P14136	GFAP_HUMAN			1	130	-		Prostate(33;0.0959)	24			Head.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.70G>T	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411498	0.42817	.	.	ENSG00000131095	ENST00000253408;ENST00000435360;ENST00000376990	D;D;D	0.85861	-2.04;-1.99;-1.71	5.02	1.65	0.23941	.	0.234345	0.36519	N	0.002544	T	0.67173	0.2865	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.57516	-0.7798	10	0.72032	D	0.01	.	1.7503	0.02970	0.2176:0.4887:0.1273:0.1663	.	24;24	E9PAX3;P14136	.;GFAP_HUMAN	C	24	ENSP00000253408:G24C;ENSP00000403962:G24C;ENSP00000366189:G24C	ENSP00000253408:G24C	G	-	1	0	GFAP	40348311	0.064000	0.20934	0.267000	0.24556	0.780000	0.44128	-0.003000	0.12901	0.700000	0.31782	0.561000	0.74099	GGC		0.692	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		4	10	1	0	0.00909568	0.009096	0.00969496	4	10				
FMNL1	752	broad.mit.edu	37	17	43313572	43313572	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:43313572C>T	ENST00000331495.3	+	7	1020	c.684C>T	c.(682-684)caC>caT	p.H228H	FMNL1_ENST00000328118.3_Silent_p.H228H|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	228	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.H228H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						ACGACGTCCACGTCTGTATTA	0.642											OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(164;1247 1997 8702 11086 51972)	GBM(164;1247 1997 8702 11086 51972)	uc002iin.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(682-684)CAC>CAT		formin-like 1							76.0	70.0	72.0					17																	43313572		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43313572C>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.684C>T	17.37:g.43313572C>T			OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	915		p.H228H	NM_005892	NP_005883	O95466	FMNL_HUMAN			7	884	+			228			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.684C>T	CCDS11497.1																																																																																				0.642	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		5	22	0	0	0	0.001984	0	5	22				
SPATA32	124783	broad.mit.edu	37	17	43333141	43333141	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:43333141G>A	ENST00000331780.4	-	4	503	c.408C>T	c.(406-408)ttC>ttT	p.F136F	MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Silent_p.F115F|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	136					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)		p.F136F(1)									TCTCCTCCGTGAAACTCCGGC	0.567																																							uc002iis.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(406-408)TTC>TTT		hypothetical protein LOC124783							97.0	94.0	95.0					17																	43333141		2203	4300	6503	SO:0001819	synonymous_variant	124783							g.chr17:43333141G>A	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.408C>T	17.37:g.43333141G>A						LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.F115F	p.F136F	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			4	504	-			136					Q7Z4U1|Q8N6V6	Silent	SNP	ENST00000331780.4	37	c.408C>T	CCDS32669.1																																																																																				0.567	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		16	70	0	0	0	0.00499	0	16	70				
KANSL1	284058	broad.mit.edu	37	17	44110791	44110791	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:44110791C>A	ENST00000262419.6	-	12	3172	c.2702G>T	c.(2701-2703)aGt>aTt	p.S901I	KANSL1_ENST00000572904.1_Missense_Mutation_p.S901I|RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000432791.1_Missense_Mutation_p.S901I|KANSL1_ENST00000393476.3_Missense_Mutation_p.S195I|KANSL1_ENST00000574590.1_Missense_Mutation_p.S901I|KANSL1_ENST00000575318.1_Missense_Mutation_p.S837I	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	901	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S901I(1)									CTCATCAGGACTCCCCTTCAG	0.483																																							uc002ikb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2701-2703)AGT>ATT		hypothetical protein LOC284058							76.0	64.0	68.0					17																	44110791		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44110791C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2702G>T	17.37:g.44110791C>A	ENSP00000262419:p.Ser901Ile					KIAA1267_uc002ikc.2_Missense_Mutation_p.S901I|KIAA1267_uc002ikd.2_Missense_Mutation_p.S901I|KIAA1267_uc010dav.2_Missense_Mutation_p.S900I|KIAA1267_uc010wkb.1_Missense_Mutation_p.S232I|KIAA1267_uc010wkc.1_Missense_Mutation_p.S169I	p.S901I	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			11	2787	-		Melanoma(429;0.211)	901					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2702G>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902720	0.72754	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.47869	0.83;0.83;0.83	5.72	-0.236	0.13067	.	0.405685	0.31936	N	0.006830	T	0.40522	0.1120	L	0.42245	1.32	0.28297	N	0.923298	P;P;B;P	0.39883	0.693;0.508;0.067;0.693	B;B;B;B	0.43018	0.405;0.373;0.095;0.405	T	0.40553	-0.9557	10	0.59425	D	0.04	-0.6599	9.9407	0.41578	0.0:0.5941:0.0:0.4059	.	169;232;901;901	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	I	901;901;195	ENSP00000262419:S901I;ENSP00000387393:S901I;ENSP00000377117:S195I	ENSP00000262419:S901I	S	-	2	0	KIAA1267	41466638	0.923000	0.31300	0.998000	0.56505	0.989000	0.77384	-0.151000	0.10175	0.090000	0.17273	0.655000	0.94253	AGT		0.483	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		9	38	1	0	0.000673444	0.008291	0.000757755	9	38				
HOXB1	3211	broad.mit.edu	37	17	46607968	46607968	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:46607968G>T	ENST00000239174.6	-	1	391	c.299C>A	c.(298-300)cCt>cAt	p.P100H	HOXB1_ENST00000577092.1_Missense_Mutation_p.P100H	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	100					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.P100H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGACCCAGAGGGTAGTACTG	0.662																																							uc002ink.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)CCT>CAT		homeobox B1							61.0	64.0	63.0					17																	46607968		2203	4299	6502	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607968G>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.299C>A	17.37:g.46607968G>T	ENSP00000355140:p.Pro100His						p.P100H	NM_002144	NP_002135	P14653	HXB1_HUMAN			1	305	-			100					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.299C>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936417	0.34189	.	.	ENSG00000120094	ENST00000239174	D	0.90261	-2.64	4.37	4.37	0.52481	.	0.709356	0.12260	N	0.484775	D	0.83073	0.5175	N	0.19112	0.55	0.24219	N	0.995447	B	0.33379	0.41	B	0.30943	0.122	T	0.71293	-0.4636	10	0.22706	T	0.39	.	14.4792	0.67567	0.0:0.0:1.0:0.0	.	100	P14653	HXB1_HUMAN	H	100	ENSP00000355140:P100H	ENSP00000355140:P100H	P	-	2	0	HOXB1	43962967	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	4.178000	0.58284	2.266000	0.75297	0.643000	0.83706	CCT		0.662	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			9	68	1	0	2.74318e-10	0.006214	4.36034e-10	9	68				
ABI3	51225	broad.mit.edu	37	17	47299960	47299960	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:47299960C>A	ENST00000225941.1	+	8	1482	c.984C>A	c.(982-984)tcC>tcA	p.S328S	ABI3_ENST00000419580.2_Silent_p.S322S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	328	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)		p.S328S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			ATGAGCTCTCCTTCTCTGAGG	0.582										HNSCC(55;0.14)																													uc002iop.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(982-984)TCC>TCA		NESH protein isoform 1							135.0	95.0	109.0					17																	47299960		2203	4300	6503	SO:0001819	synonymous_variant	51225				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	g.chr17:47299960C>A	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.984C>A	17.37:g.47299960C>A		HNSCC(55;0.14)				ABI3_uc002ioq.1_Silent_p.S322S	p.S328S	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		8	1482	+			328			SH3.		C9IZN8|Q9H0P6	Silent	SNP	ENST00000225941.1	37	c.984C>A	CCDS11546.1																																																																																				0.582	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428		8	28	1	0	5.4927e-09	0.004482	8.34799e-09	8	28				
ZNF652	22834	broad.mit.edu	37	17	47376118	47376118	+	Missense_Mutation	SNP	C	C	A	rs375103284		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:47376118C>A	ENST00000362063.2	-	6	1796	c.1478G>T	c.(1477-1479)cGg>cTg	p.R493L	ZNF652_ENST00000430262.2_Missense_Mutation_p.R493L	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R493L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GCTGGTCACCCGAAAGCACTT	0.572																																							uc002iov.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1477-1479)CGG>CTG		zinc finger protein 652							79.0	62.0	68.0					17																	47376118		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47376118C>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1478G>T	17.37:g.47376118C>A	ENSP00000354686:p.Arg493Leu					ZNF652_uc002iow.2_Missense_Mutation_p.R493L|ZNF652_uc002iou.3_RNA	p.R493L	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		6	1942	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		493					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.1478G>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542518	0.85917	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.09630	2.96;2.96	4.65	4.65	0.58169	Zinc finger, C2H2 (1);	0.065988	0.64402	D	0.000007	T	0.13670	0.0331	L	0.58101	1.795	0.80722	D	1	P	0.35684	0.515	B	0.30029	0.11	T	0.04294	-1.0962	10	0.72032	D	0.01	-10.4044	17.6768	0.88233	0.0:1.0:0.0:0.0	.	493	Q9Y2D9	ZN652_HUMAN	L	493	ENSP00000354686:R493L;ENSP00000416305:R493L	ENSP00000354686:R493L	R	-	2	0	ZNF652	44731117	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	7.589000	0.82641	2.583000	0.87209	0.591000	0.81541	CGG		0.572	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		9	23	1	0	1.76689e-08	0.006214	2.62778e-08	9	23				
SLC35B1	10237	broad.mit.edu	37	17	47781515	47781515	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:47781515G>A	ENST00000240333.6	-	6	723	c.602C>T	c.(601-603)tCc>tTc	p.S201F	SLC35B1_ENST00000415270.2_Missense_Mutation_p.S238F			P78383	S35B1_HUMAN	solute carrier family 35, member B1	201					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)	p.S201F(1)		endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CATGTGGTTGGAGCCTGTTTG	0.537																																							uc002iph.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(601-603)TCC>TTC		solute carrier family 35, member B1							231.0	187.0	202.0					17																	47781515		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47781515G>A	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.602C>T	17.37:g.47781515G>A	ENSP00000240333:p.Ser201Phe					SLC35B1_uc002ipi.1_Missense_Mutation_p.S134F|SLC35B1_uc002ipj.1_Missense_Mutation_p.S77F|SLC35B1_uc010wly.1_Missense_Mutation_p.S201F	p.S201F	NM_005827	NP_005818	P78383	S35B1_HUMAN			6	689	-			201					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.602C>T	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598689	0.96614	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334;ENST00000508520;ENST00000502268;ENST00000435059;ENST00000514907;ENST00000515850;ENST00000511763	T;T;T;T;T;T;T	0.48522	1.39;1.39;1.39;1.39;1.39;1.39;0.81	6.07	6.07	0.98685	.	0.050681	0.85682	D	0.000000	T	0.73606	0.3608	M	0.87456	2.885	0.80722	D	1	D;P;P	0.53619	0.961;0.916;0.86	P;P;P	0.62649	0.905;0.866;0.866	T	0.76072	-0.3093	10	0.72032	D	0.01	-4.6262	20.2544	0.98414	0.0:0.0:1.0:0.0	.	201;134;201	B4DJG9;D3DTX1;P78383	.;.;S35B1_HUMAN	F	201;238;77;77;134;204;77;201;170;235;158	ENSP00000240333:S201F;ENSP00000409548:S238F;ENSP00000423323:S134F;ENSP00000424367:S204F;ENSP00000426961:S170F;ENSP00000427689:S235F;ENSP00000422104:S158F	ENSP00000240333:S201F	S	-	2	0	SLC35B1	45136514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.964000	0.87933	2.885000	0.99019	0.655000	0.94253	TCC		0.537	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		11	41	0	0	0	0.000978	0	11	41				
KIF2B	84643	broad.mit.edu	37	17	51900641	51900641	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:51900641C>A	ENST00000268919.4	+	1	403	c.247C>A	c.(247-249)Ctg>Atg	p.L83M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	83					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L83M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAATCCAGCTCTGGACTCTGC	0.567																																							uc002iua.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(247-249)CTG>ATG		kinesin family member 2B							151.0	152.0	152.0					17																	51900641		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900641C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.247C>A	17.37:g.51900641C>A	ENSP00000268919:p.Leu83Met						p.L83M	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	403	+			83					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.247C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	9.535	1.111979	0.20795	.	.	ENSG00000141200	ENST00000268919	D	0.81659	-1.52	4.96	3.97	0.46021	.	0.000000	0.31648	N	0.007288	D	0.82962	0.5151	M	0.71206	2.165	0.22050	N	0.999393	D	0.55172	0.97	P	0.52031	0.688	T	0.76116	-0.3077	10	0.87932	D	0	.	9.251	0.37555	0.0:0.8309:0.0:0.1691	.	83	Q8N4N8	KIF2B_HUMAN	M	83	ENSP00000268919:L83M	ENSP00000268919:L83M	L	+	1	2	KIF2B	49255640	0.969000	0.33509	0.025000	0.17156	0.060000	0.15804	2.132000	0.42083	1.403000	0.46800	0.655000	0.94253	CTG		0.567	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		26	104	1	0	1.13719e-10	0.008361	1.82956e-10	26	104				
KIF2B	84643	broad.mit.edu	37	17	51900752	51900752	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:51900752C>A	ENST00000268919.4	+	1	514	c.358C>A	c.(358-360)Ccc>Acc	p.P120T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	120					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P120T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCGATGATCCCCCAGAAAAA	0.592																																							uc002iua.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(358-360)CCC>ACC		kinesin family member 2B							70.0	73.0	72.0					17																	51900752		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900752C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.358C>A	17.37:g.51900752C>A	ENSP00000268919:p.Pro120Thr					uc010wna.1_RNA	p.P120T	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	514	+			120					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.358C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	1.895	-0.454623	0.04540	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75367	-0.93	5.11	3.05	0.35203	.	0.000000	0.37623	N	0.002017	T	0.61899	0.2384	L	0.39397	1.21	0.09310	N	1	B	0.33135	0.399	B	0.32677	0.15	T	0.55623	-0.8112	10	0.52906	T	0.07	.	7.0915	0.25287	0.0:0.7838:0.0:0.2162	.	120	Q8N4N8	KIF2B_HUMAN	T	120;43	ENSP00000268919:P120T	ENSP00000268919:P120T	P	+	1	0	KIF2B	49255751	0.026000	0.19158	0.018000	0.16275	0.016000	0.09150	1.056000	0.30480	0.775000	0.33450	-0.150000	0.13652	CCC		0.592	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		12	50	1	0	7.03913e-09	0.001368	1.06427e-08	12	50				
KIF2B	84643	broad.mit.edu	37	17	51902345	51902345	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:51902345G>T	ENST00000268919.4	+	1	2107	c.1951G>T	c.(1951-1953)Gct>Tct	p.A651S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	651					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A651S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAAATTGATGCTCTGACCGA	0.453																																							uc002iua.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1951-1953)GCT>TCT		kinesin family member 2B							117.0	111.0	113.0					17																	51902345		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902345G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1951G>T	17.37:g.51902345G>T	ENSP00000268919:p.Ala651Ser					uc010wna.1_RNA	p.A651S	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	2107	+			651			Potential.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1951G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	5.820	0.335508	0.11013	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73575	-0.76	5.65	-1.73	0.08081	.	1.064500	0.07468	N	0.901710	T	0.47414	0.1444	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25082	-1.0142	10	0.14656	T	0.56	.	4.3768	0.11274	0.4538:0.0:0.302:0.2442	.	651	Q8N4N8	KIF2B_HUMAN	S	651;539	ENSP00000268919:A651S	ENSP00000268919:A651S	A	+	1	0	KIF2B	49257344	0.003000	0.15002	0.043000	0.18650	0.284000	0.27059	-0.321000	0.08018	-0.180000	0.10637	-0.137000	0.14449	GCT		0.453	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		6	28	1	0	8.12818e-05	0.001984	9.82943e-05	6	28				
EPX	8288	broad.mit.edu	37	17	56271329	56271329	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:56271329G>T	ENST00000225371.5	+	5	580	c.470G>T	c.(469-471)aGa>aTa	p.R157I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	157					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R157I(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TGCAGGAGGAGACCCTTGCTA	0.677																																							uc002ivq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(469-471)AGA>ATA		eosinophil peroxidase preproprotein							32.0	34.0	33.0					17																	56271329		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56271329G>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.470G>T	17.37:g.56271329G>T	ENSP00000225371:p.Arg157Ile						p.R157I	NM_000502	NP_000493	P11678	PERE_HUMAN			5	556	+			157					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.470G>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475191	0.26511	.	.	ENSG00000121053	ENST00000225371	T	0.69175	-0.38	4.08	-1.93	0.07594	.	0.505778	0.21524	N	0.073166	T	0.51568	0.1682	L	0.55213	1.73	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.36261	-0.9755	10	0.62326	D	0.03	0.06	2.8638	0.05595	0.3664:0.0:0.3097:0.3239	.	157	P11678	PERE_HUMAN	I	157	ENSP00000225371:R157I	ENSP00000225371:R157I	R	+	2	0	EPX	53626328	0.000000	0.05858	0.376000	0.26042	0.425000	0.31504	-0.058000	0.11750	-0.143000	0.11334	0.448000	0.29417	AGA		0.677	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		7	32	1	0	2.0095e-06	0.001984	2.69165e-06	7	32				
TBX4	9496	broad.mit.edu	37	17	59556082	59556082	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:59556082G>T	ENST00000240335.1	+	5	689	c.644G>T	c.(643-645)tGc>tTc	p.C215F	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.C215F	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	215					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C215F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTGCTTTCTGCACCCACGTG	0.532																																							uc002izi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(643-645)TGC>TTC		T-box 4							223.0	184.0	197.0					17																	59556082		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59556082G>T	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.644G>T	17.37:g.59556082G>T	ENSP00000240335:p.Cys215Phe					TBX4_uc010ddo.2_Missense_Mutation_p.C215F|TBX4_uc010woy.1_Missense_Mutation_p.C215F	p.C215F	NM_018488	NP_060958	P57082	TBX4_HUMAN			5	689	+			215			T-box.		A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.644G>T	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711194	0.89112	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.87571	-2.27;-2.27	5.94	5.94	0.96194	p53-like transcription factor, DNA-binding (1);	0.083925	0.85682	D	0.000000	D	0.90903	0.7141	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.87578	0.756;0.998	D	0.89072	0.3470	9	.	.	.	.	18.9413	0.92607	0.0:0.0:1.0:0.0	.	215;215	A5PKU7;P57082	.;TBX4_HUMAN	F	215	ENSP00000377435:C215F;ENSP00000240335:C215F	.	C	+	2	0	TBX4	56910864	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.826000	0.97356	0.561000	0.74099	TGC		0.532	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		17	74	1	0	4.96729e-08	0.008871	7.26872e-08	17	74				
MARCH10	162333	broad.mit.edu	37	17	60814126	60814126	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:60814126G>T	ENST00000311269.5	-	6	1377	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	MARCH10_ENST00000544856.2_Missense_Mutation_p.S367Y|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.S406Y|MARCH10_ENST00000456609.2_Missense_Mutation_p.S368Y|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	368					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S368Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTGCCCAGCAGAAGGCCGCTC	0.502																																							uc010ddr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)TCT>TAT		ring finger protein 190							85.0	84.0	84.0					17																	60814126		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60814126G>T	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1103C>A	17.37:g.60814126G>T	ENSP00000311496:p.Ser368Tyr					MARCH10_uc002jag.3_Missense_Mutation_p.S368Y|MARCH10_uc010dds.2_Missense_Mutation_p.S406Y|MARCH10_uc002jah.2_Missense_Mutation_p.S367Y|uc002jaj.1_RNA|uc002jak.2_RNA	p.S368Y	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			6	1341	-			368					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.1103C>A	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	2.149	-0.394869	0.04899	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.42513	0.97;0.97;0.97	4.96	3.98	0.46160	.	0.527164	0.17569	N	0.169526	T	0.54046	0.1834	M	0.62723	1.935	0.09310	N	1	D;D;D	0.63880	0.989;0.993;0.989	P;P;P	0.59487	0.726;0.858;0.726	T	0.44081	-0.9351	10	0.66056	D	0.02	-3.9976	9.6289	0.39768	0.0998:0.0:0.9002:0.0	.	367;367;368	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	Y	368;368;367	ENSP00000416177:S368Y;ENSP00000311496:S368Y;ENSP00000443746:S367Y	ENSP00000311496:S368Y	S	-	2	0	MARCH10	58167858	0.523000	0.26274	0.095000	0.20976	0.006000	0.05464	1.436000	0.34980	2.296000	0.77279	0.561000	0.74099	TCT		0.502	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		26	93	1	0	1.77063e-15	0.005443	3.10607e-15	26	93				
ACE	1636	broad.mit.edu	37	17	61568583	61568583	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:61568583G>A	ENST00000290866.4	+	19	2777	c.2753G>A	c.(2752-2754)aGg>aAg	p.R918K	ACE_ENST00000428043.1_Missense_Mutation_p.R918K|ACE_ENST00000421982.2_Missense_Mutation_p.R164K|ACE_ENST00000413513.3_Missense_Mutation_p.R344K|ACE_ENST00000490216.2_Missense_Mutation_p.R344K|ACE_ENST00000290863.6_Missense_Mutation_p.R344K|ACE_ENST00000577647.1_Missense_Mutation_p.R344K	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	918	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.R344K(1)|p.R918K(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGGACGCCCAGGAGGATGTTT	0.617																																							uc002jau.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2752-2754)AGG>AAG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						50.0	50.0	50.0					17																	61568583		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61568583G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2753G>A	17.37:g.61568583G>A	ENSP00000290866:p.Arg918Lys					ACE_uc002jav.1_Missense_Mutation_p.R344K|ACE_uc010ddv.1_Missense_Mutation_p.R145K|ACE_uc010wpj.1_Missense_Mutation_p.R344K|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.R164K	p.R918K	NM_000789	NP_000780	P12821	ACE_HUMAN			19	2775	+			918			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2753G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235046	0.22626	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.28	-5.51	0.02568	.	0.638563	0.16876	N	0.195910	T	0.08626	0.0214	N	0.02765	-0.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.004;0.0;0.0	T	0.29761	-1.0001	10	0.05959	T	0.93	-5.1437	3.6918	0.08348	0.6116:0.0998:0.1895:0.0991	.	164;344;344;918	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	K	918;918;344;344;164	ENSP00000290866:R918K;ENSP00000397593:R918K;ENSP00000290863:R344K;ENSP00000392247:R344K;ENSP00000387760:R164K	ENSP00000290863:R344K	R	+	2	0	ACE	58922315	0.001000	0.12720	0.019000	0.16419	0.323000	0.28346	0.128000	0.15810	-0.958000	0.03622	0.561000	0.74099	AGG		0.617	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			4	33	0	0	0	0.000602	0	4	33				
ACE	1636	broad.mit.edu	37	17	61571364	61571364	+	Missense_Mutation	SNP	G	G	T	rs141139841		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:61571364G>T	ENST00000290866.4	+	21	3242	c.3218G>T	c.(3217-3219)cGc>cTc	p.R1073L	ACE_ENST00000428043.1_Missense_Mutation_p.R1073L|ACE_ENST00000421982.2_Missense_Mutation_p.R319L|ACE_ENST00000413513.3_Missense_Mutation_p.R499L|ACE_ENST00000490216.2_Missense_Mutation_p.R499L|ACE_ENST00000290863.6_Missense_Mutation_p.R499L|ACE_ENST00000577647.1_Missense_Mutation_p.R499L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1073	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.R499L(1)|p.R1073L(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GATCAGTGGCGCTGGAGGGTA	0.547																																							uc002jau.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3217-3219)CGC>CTC		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						114.0	93.0	101.0					17																	61571364		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61571364G>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3218G>T	17.37:g.61571364G>T	ENSP00000290866:p.Arg1073Leu					ACE_uc002jav.1_Missense_Mutation_p.R499L|ACE_uc010ddv.1_Missense_Mutation_p.R300L|ACE_uc010wpj.1_Missense_Mutation_p.R499L|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.R319L	p.R1073L	NM_000789	NP_000780	P12821	ACE_HUMAN			21	3240	+			1073			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.3218G>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875738	0.51695	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.77818	0.4187	H	0.98111	4.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.995;0.999	D	0.87604	0.2499	10	0.87932	D	0	-36.9179	17.0435	0.86496	0.0:0.0:1.0:0.0	.	319;499;499;1073	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	L	1073;1073;499;499;319	ENSP00000290866:R1073L;ENSP00000397593:R1073L;ENSP00000290863:R499L;ENSP00000392247:R499L;ENSP00000387760:R319L	ENSP00000290863:R499L	R	+	2	0	ACE	58925096	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.813000	0.99286	2.071000	0.62044	0.561000	0.74099	CGC		0.547	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			3	20	1	0	1.23904e-05	0.000602	1.57558e-05	3	20				
GH1	2688	broad.mit.edu	37	17	61995231	61995231	+	Silent	SNP	G	G	T	rs144610881		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:61995231G>T	ENST00000323322.5	-	4	387	c.345C>A	c.(343-345)ccC>ccA	p.P115P	GH1_ENST00000458650.2_Silent_p.P100P|GH1_ENST00000351388.4_Silent_p.P75P|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	115					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.P115P(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGAACTGCACGGGCTCCAGCC	0.607																																							uc002jdj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)CCC>CCA		growth hormone 1 isoform 1							58.0	61.0	60.0					17																	61995231		2203	4300	6503	SO:0001819	synonymous_variant	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995231G>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.345C>A	17.37:g.61995231G>T						GH1_uc002jdi.2_Silent_p.P100P|GH1_uc002jdk.2_Silent_p.P75P|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Silent_p.P115P	p.P115P	NM_000515	NP_000506	P01241	SOMA_HUMAN			4	407	-			115					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	37	c.345C>A	CCDS11653.1																																																																																				0.607	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		11	52	1	0	3.86212e-05	0.008291	4.78167e-05	11	52				
SCN4A	6329	broad.mit.edu	37	17	62022892	62022892	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:62022892G>A	ENST00000435607.1	-	19	3624	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1183					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1183V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAACTTGCCGGCAAACAGGTT	0.542																																							uc002jds.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3547-3549)GCC>GTC		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						250.0	250.0	250.0					17																	62022892		2201	4300	6501	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022892G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3548C>T	17.37:g.62022892G>A	ENSP00000396320:p.Ala1183Val						p.A1183V	NM_000334	NP_000325	P35499	SCN4A_HUMAN			19	3625	-			1183			III.|Helical; Name=S5 of repeat III; (Potential).		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3548C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018393	0.93404	.	.	ENSG00000007314	ENST00000435607	D	0.97529	-4.42	3.91	3.91	0.45181	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99474	1.0946	10	0.87932	D	0	.	15.4523	0.75282	0.0:0.0:1.0:0.0	.	1183	P35499	SCN4A_HUMAN	V	1183	ENSP00000396320:A1183V	ENSP00000396320:A1183V	A	-	2	0	SCN4A	59376624	1.000000	0.71417	0.990000	0.47175	0.939000	0.58152	9.522000	0.98032	2.196000	0.70406	0.561000	0.74099	GCC		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		4	183	0	0	0	0.009096	0	4	183				
ABCA10	10349	broad.mit.edu	37	17	67149676	67149676	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:67149676G>A	ENST00000269081.4	-	34	4886	c.3977C>T	c.(3976-3978)gCt>gTt	p.A1326V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1326	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A1326V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAGCTTAAGAGCTTCCACCAA	0.418																																							uc010dfa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3976-3978)GCT>GTT		ATP-binding cassette, sub-family A, member 10							75.0	81.0	79.0					17																	67149676		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67149676G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3977C>T	17.37:g.67149676G>A	ENSP00000269081:p.Ala1326Val					ABCA10_uc010wqs.1_Missense_Mutation_p.A318V|ABCA10_uc010wqt.1_Intron	p.A1326V	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			34	4856	-	Breast(10;6.95e-12)		1326			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.3977C>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688965	0.48097	.	.	ENSG00000154263	ENST00000269081	D	0.94046	-3.34	3.58	-0.5	0.12012	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.017520	0.07944	U	0.979856	D	0.91734	0.7386	L	0.39020	1.185	0.09310	N	0.999996	P;P	0.44195	0.455;0.828	P;P	0.50934	0.461;0.654	D	0.83381	0.0012	10	0.59425	D	0.04	.	8.7955	0.34876	0.4158:0.0:0.5842:0.0	.	318;1326	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	V	1326	ENSP00000269081:A1326V	ENSP00000269081:A1326V	A	-	2	0	ABCA10	64661271	0.010000	0.17322	0.000000	0.03702	0.056000	0.15407	1.377000	0.34317	-0.130000	0.11599	0.563000	0.77884	GCT		0.418	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		18	86	0	0	0	0.007413	0	18	86				
ABCA5	23461	broad.mit.edu	37	17	67309322	67309322	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:67309322G>A	ENST00000392676.3	-	3	282	c.218C>T	c.(217-219)aCt>aTt	p.T73I	ABCA5_ENST00000392677.2_Missense_Mutation_p.T73I|ABCA5_ENST00000588877.1_Missense_Mutation_p.T73I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	73					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T73I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATTAGAAAGAGTAAACTTGTC	0.318																																							uc002jif.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(217-219)ACT>ATT		ATP-binding cassette, sub-family A , member 5							88.0	93.0	91.0					17																	67309322		2203	4296	6499	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67309322G>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.218C>T	17.37:g.67309322G>A	ENSP00000376443:p.Thr73Ile					ABCA5_uc002jig.2_Missense_Mutation_p.T73I|ABCA5_uc002jih.2_Missense_Mutation_p.T73I|ABCA5_uc010dfe.2_Missense_Mutation_p.T73I	p.T73I	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			2	1436	-	Breast(10;3.72e-11)		73					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.218C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	1.375	-0.585008	0.03827	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87412	-2.25;-2.25	5.0	1.16	0.20824	.	0.794830	0.11469	N	0.560956	T	0.62889	0.2465	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.52465	-0.8572	9	.	.	.	.	6.2078	0.20612	0.4691:0.3798:0.1511:0.0	.	73;73	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	73	ENSP00000376444:T73I;ENSP00000376443:T73I	.	T	-	2	0	ABCA5	64820917	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.529000	0.23019	-0.068000	0.12953	-0.438000	0.05819	ACT		0.318	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		4	36	0	0	0	0.001168	0	4	36				
DNAI2	64446	broad.mit.edu	37	17	72287239	72287239	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:72287239G>T	ENST00000311014.6	+	6	758	c.691G>T	c.(691-693)Gta>Tta	p.V231L	DNAI2_ENST00000307504.5_Missense_Mutation_p.V88L|DNAI2_ENST00000446837.2_Missense_Mutation_p.V231L|DNAI2_ENST00000582036.1_Missense_Mutation_p.V231L|DNAI2_ENST00000579490.1_Missense_Mutation_p.V288L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	231					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.V231L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGATTCCCACGTACTCCTGGG	0.403									Kartagener syndrome																														uc002jkf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(691-693)GTA>TTA		dynein, axonemal, intermediate polypeptide 2							164.0	169.0	167.0					17																	72287239		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72287239G>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.691G>T	17.37:g.72287239G>T	ENSP00000308312:p.Val231Leu					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.V231L	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			6	790	+			231			WD 2.		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.691G>T	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	7.703	0.693470	0.15039	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.17213	2.29;2.29;2.29	4.72	-0.764	0.11027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.622986	0.17189	N	0.183585	T	0.06416	0.0165	N	0.04787	-0.16	0.32482	N	0.541381	B	0.06786	0.001	B	0.10450	0.005	T	0.43491	-0.9388	10	0.08837	T	0.75	-20.8359	9.8552	0.41082	0.5145:0.0:0.4854:0.0	.	231	Q9GZS0	DNAI2_HUMAN	L	231;88;231	ENSP00000308312:V231L;ENSP00000302929:V88L;ENSP00000400252:V231L	ENSP00000302929:V88L	V	+	1	0	DNAI2	69798834	0.906000	0.30813	0.061000	0.19648	0.761000	0.43186	0.274000	0.18680	0.002000	0.14630	-0.253000	0.11424	GTA		0.403	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		47	141	1	0	1.23713e-20	0.00361	2.29752e-20	47	141				
EVPL	2125	broad.mit.edu	37	17	74010647	74010647	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:74010647C>A	ENST00000301607.3	-	18	2486	c.2233G>T	c.(2233-2235)Gtg>Ttg	p.V745L	EVPL_ENST00000586740.1_Missense_Mutation_p.V767L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	745	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.V745L(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCATCCTGCACCACCTTCTCC	0.647																																							uc002jqi.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(2233-2235)GTG>TTG		envoplakin							34.0	33.0	33.0					17																	74010647		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74010647C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2233G>T	17.37:g.74010647C>A	ENSP00000301607:p.Val745Leu					EVPL_uc010wss.1_Missense_Mutation_p.V767L|EVPL_uc010wst.1_Missense_Mutation_p.V215L	p.V745L	NM_001988	NP_001979	Q92817	EVPL_HUMAN			18	2461	-			745			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.2233G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848469	0.00563	.	.	ENSG00000167880	ENST00000301607	T	0.50548	0.74	5.65	-4.93	0.03066	.	0.686238	0.14569	N	0.311595	T	0.14614	0.0353	N	0.08118	0	0.21184	N	0.999768	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30736	-0.9968	10	0.02654	T	1	-16.9266	1.8364	0.03141	0.2919:0.1595:0.361:0.1876	.	767;745	B7ZLH8;Q92817	.;EVPL_HUMAN	L	745	ENSP00000301607:V745L	ENSP00000301607:V745L	V	-	1	0	EVPL	71522242	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.641000	0.05434	-0.891000	0.03940	-1.332000	0.01269	GTG		0.647	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		9	25	1	0	2.17888e-05	0.006214	2.75625e-05	9	25				
DNAH17	8632	broad.mit.edu	37	17	76435278	76435278	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:76435278A>G	ENST00000585328.1	-	73	11808	c.11684T>C	c.(11683-11685)aTa>aCa	p.I3895T	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.I3886T	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3886	AAA 6. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I3895T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCATTGTCTATGGTAAACCC	0.458																																							uc010dhp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(2698-2700)ATA>ACA		SubName: Full=DNAH17 variant protein; Flags: Fragment;							57.0	51.0	53.0					17																	76435278		2203	4299	6502	SO:0001583	missense	8632							g.chr17:76435278A>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11684T>C	17.37:g.76435278A>G	ENSP00000465516:p.Ile3895Thr					DNAH17_uc002jvq.2_Missense_Mutation_p.I185T|DNAH17_uc002jvs.2_RNA	p.I900T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		18	2921	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.2699T>C		.	.	.	.	.	.	.	.	.	.	A	13.38	2.219221	0.39201	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09255	3.0	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000007	T	0.11281	0.0275	L	0.41824	1.3	0.49582	D	0.999809	B	0.14012	0.009	B	0.22152	0.038	T	0.12066	-1.0562	10	0.22109	T	0.4	.	15.0244	0.71656	1.0:0.0:0.0:0.0	.	3895	E7EUM8	.	T	3895;3886	ENSP00000374490:I3886T	ENSP00000300671:I3895T	I	-	2	0	DNAH17	73946873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.194000	0.94962	2.024000	0.59613	0.533000	0.62120	ATA		0.458	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	19	0	0	0	0.000602	0	4	19				
RNF213	57674	broad.mit.edu	37	17	78325513	78325513	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:78325513A>T	ENST00000582970.1	+	32	10356	c.10213A>T	c.(10213-10215)Ata>Tta	p.I3405L	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.I3454L|RNF213_ENST00000336301.6_Missense_Mutation_p.I1478L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3405					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I3454L(1)|p.I1478L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AATCAACAAAATACGAGAAAA	0.353																																							uc002jyh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(4432-4434)ATA>TTA		ring finger protein 213							63.0	67.0	65.0					17																	78325513		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78325513A>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10213A>T	17.37:g.78325513A>T	ENSP00000464087:p.Ile3405Leu					RNF213_uc010dhw.1_5'Flank	p.I1478L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		7	4655	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.4432A>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800029	0.31869	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.20200	2.09	5.01	-1.2	0.09554	.	0.802209	0.11678	N	0.540122	T	0.08670	0.0215	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38585	-0.9654	10	0.08381	T	0.77	.	2.608	0.04883	0.3536:0.1312:0.3872:0.1281	.	1478	Q63HN8	RN213_HUMAN	L	3405;3454;1478	ENSP00000338218:I1478L	ENSP00000338218:I1478L	I	+	1	0	RNF213	75940108	0.002000	0.14202	0.007000	0.13788	0.202000	0.24057	0.012000	0.13287	0.053000	0.16036	0.533000	0.62120	ATA		0.353	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		3	23	0	0	0	0.009096	0	3	23				
ACTG1	71	broad.mit.edu	37	17	79479283	79479283	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:79479283G>A	ENST00000575842.1	-	1	524	c.98C>T	c.(97-99)tCc>tTc	p.S33F	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.S33F|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.S33F|ACTG1_ENST00000575087.1_Missense_Mutation_p.S33F			P63261	ACTG_HUMAN	actin, gamma 1	33					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.S33F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CCCGACGATGGAAGGAAACAC	0.657																																							uc002kaj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(97-99)TCC>TTC		actin, gamma 1 propeptide							53.0	62.0	59.0					17																	79479283		2202	4300	6502	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79479283G>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.98C>T	17.37:g.79479283G>A	ENSP00000458162:p.Ser33Phe					ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_5'Flank|ACTG1_uc002kak.1_Missense_Mutation_p.S33F|ACTG1_uc010wun.1_Missense_Mutation_p.S33F|ACTG1_uc002kal.1_Missense_Mutation_p.S33F|ACTG1_uc002kag.2_RNA	p.S33F	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		1	123	-	all_neural(118;0.0878)|Melanoma(429;0.242)		33					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.98C>T	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357376	0.41801	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.98044	-4.68	3.99	3.99	0.46301	.	0.000000	0.64402	U	0.000002	D	0.99324	0.9763	H	0.99573	4.635	0.58432	D	0.999998	D	0.71674	0.998	D	0.81914	0.995	D	0.98104	1.0416	10	0.87932	D	0	.	15.0358	0.71744	0.0:0.0:1.0:0.0	.	33	P63261	ACTG_HUMAN	F	33	ENSP00000331514:S33F	ENSP00000331514:S33F	S	-	2	0	ACTG1	77093878	1.000000	0.71417	0.964000	0.40570	0.148000	0.21650	9.025000	0.93694	2.066000	0.61787	0.563000	0.77884	TCC		0.657	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		13	57	0	0	0	0.003163	0	13	57				
LAMA1	284217	broad.mit.edu	37	18	7015759	7015759	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:7015759C>A	ENST00000389658.3	-	22	3181	c.3088G>T	c.(3088-3090)Gat>Tat	p.D1030Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1030	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D1030Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGTGCCCATCCTCACATTCT	0.557																																							uc002knm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3088-3090)GAT>TAT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						151.0	126.0	135.0					18																	7015759		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7015759C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3088G>T	18.37:g.7015759C>A	ENSP00000374309:p.Asp1030Tyr					LAMA1_uc010wzj.1_Missense_Mutation_p.D506Y	p.D1030Y	NM_005559	NP_005550	P25391	LAMA1_HUMAN			22	3182	-		Colorectal(10;0.172)	1030			Laminin EGF-like 11.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3088G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932158	0.73442	.	.	ENSG00000101680	ENST00000389658	T	0.62941	-0.01	5.36	5.36	0.76844	EGF-like, laminin (4);	0.442749	0.21407	N	0.075043	T	0.70046	0.3179	L	0.50919	1.6	0.32020	N	0.60087	D	0.57571	0.98	P	0.58130	0.833	T	0.75803	-0.3189	10	0.72032	D	0.01	.	13.7241	0.62748	0.0:0.926:0.0:0.074	.	1030	P25391	LAMA1_HUMAN	Y	1030	ENSP00000374309:D1030Y	ENSP00000374309:D1030Y	D	-	1	0	LAMA1	7005759	0.274000	0.24191	0.037000	0.18230	0.166000	0.22503	2.039000	0.41193	2.671000	0.90904	0.643000	0.83706	GAT		0.557	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		11	51	1	0	0.000673444	0.008291	0.000757755	11	51				
LAMA1	284217	broad.mit.edu	37	18	7043261	7043261	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:7043261C>T	ENST00000389658.3	-	8	1213	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	374	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E374K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATACAGGTTTCACAGTTGATT	0.408																																							uc002knm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(1120-1122)GAA>AAA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						256.0	234.0	242.0					18																	7043261		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7043261C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1120G>A	18.37:g.7043261C>T	ENSP00000374309:p.Glu374Lys					LAMA1_uc010wzj.1_5'UTR	p.E374K	NM_005559	NP_005550	P25391	LAMA1_HUMAN			8	1214	-		Colorectal(10;0.172)	374			Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1120G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550062	0.86127	.	.	ENSG00000101680	ENST00000389658	T	0.65178	-0.14	5.76	4.87	0.63330	EGF-like, laminin (4);	0.055265	0.64402	D	0.000001	D	0.86781	0.6015	H	0.98027	4.13	0.58432	D	0.999993	D	0.69078	0.997	D	0.70487	0.969	D	0.92191	0.5759	10	0.72032	D	0.01	.	17.0129	0.86411	0.0:0.8726:0.1274:0.0	.	374	P25391	LAMA1_HUMAN	K	374	ENSP00000374309:E374K	ENSP00000374309:E374K	E	-	1	0	LAMA1	7033261	1.000000	0.71417	0.994000	0.49952	0.800000	0.45204	4.002000	0.57053	1.525000	0.49052	0.650000	0.86243	GAA		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		16	138	0	0	0	0.00499	0	16	138				
ROCK1	6093	broad.mit.edu	37	18	18534823	18534823	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:18534823G>C	ENST00000399799.2	-	31	4714	c.3774C>G	c.(3772-3774)gcC>gcG	p.A1258A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1258	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A1258A(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GACACTCTAGGGCAGGGGGTG	0.433																																							uc002kte.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(3772-3774)GCC>GCG		Rho-associated, coiled-coil containing protein							82.0	73.0	76.0					18																	18534823		2203	4300	6503	SO:0001819	synonymous_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18534823G>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3774C>G	18.37:g.18534823G>C							p.A1258A	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			31	4715	-	Melanoma(1;0.165)		1258			PH.|Auto-inhibitory.|Phorbol-ester/DAG-type.		B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	c.3774C>G	CCDS11870.2																																																																																				0.433	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		7	60	0	0	0	0.001984	0	7	60				
GATA6	2627	broad.mit.edu	37	18	19762931	19762931	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:19762931C>T	ENST00000269216.3	+	6	1824	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	GATA6_ENST00000581694.1_Missense_Mutation_p.P516L|RNU6-702P_ENST00000364982.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	516					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|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)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P516L(1)		NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCCATGACTCCAACTTCCACC	0.383																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1546-1548)CCA>CTA		GATA binding protein 6							132.0	117.0	122.0					18																	19762931		2203	4300	6503	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19762931C>T	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1547C>T	18.37:g.19762931C>T	ENSP00000269216:p.Pro516Leu					GATA6_uc002ktu.1_Missense_Mutation_p.P516L	p.P516L	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		6	1812	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		516					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.1547C>T	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346449	0.82022	.	.	ENSG00000141448	ENST00000269216	D	0.98419	-4.92	6.07	6.07	0.98685	.	0.125333	0.53938	N	0.000042	D	0.97739	0.9258	M	0.70275	2.135	0.80722	D	1	B	0.22683	0.073	B	0.37091	0.241	D	0.95473	0.8553	10	0.35671	T	0.21	-9.2456	15.3732	0.74584	0.1394:0.8606:0.0:0.0	.	516	Q92908	GATA6_HUMAN	L	516	ENSP00000269216:P516L	ENSP00000269216:P516L	P	+	2	0	GATA6	18016929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.300000	0.65721	2.885000	0.99019	0.650000	0.86243	CCA		0.383	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		7	39	0	0	0	0.001984	0	7	39				
LAMA3	3909	broad.mit.edu	37	18	21338419	21338419	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:21338419G>C	ENST00000313654.9	+	7	1248	c.1007G>C	c.(1006-1008)gGg>gCg	p.G336A	LAMA3_ENST00000399516.3_Missense_Mutation_p.G336A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	336	Domain V.|Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G336A(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGCTGCACAGGGTACAATCAG	0.617																																							uc002kuq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1006-1008)GGG>GCG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						33.0	40.0	38.0					18																	21338419		2017	4179	6196	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21338419G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1007G>C	18.37:g.21338419G>C	ENSP00000324532:p.Gly336Ala					LAMA3_uc010dlv.1_Missense_Mutation_p.G336A|LAMA3_uc002kur.2_Missense_Mutation_p.G336A	p.G336A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			7	1093	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		336			Laminin EGF-like 1.|Domain V.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1007G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693734	0.48202	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.68479	-0.33;-0.33	5.23	4.36	0.52297	EGF-like, laminin (3);	.	.	.	.	D	0.84692	0.5528	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.97	D;P;P	0.97110	1.0;0.871;0.628	D	0.86574	0.1849	9	0.41790	T	0.15	.	13.8133	0.63276	0.074:0.0:0.926:0.0	.	336;336;336	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	A	336;336;334;336	ENSP00000324532:G336A;ENSP00000382432:G336A	ENSP00000324532:G336A	G	+	2	0	LAMA3	19592417	1.000000	0.71417	0.235000	0.24058	0.006000	0.05464	9.152000	0.94680	1.208000	0.43306	-0.140000	0.14226	GGG		0.617	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	21	0	0	0	0.000602	0	4	21				
CDH2	1000	broad.mit.edu	37	18	25570121	25570121	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:25570121C>A	ENST00000269141.3	-	10	1961	c.1538G>T	c.(1537-1539)gGt>gTt	p.G513V	CDH2_ENST00000399380.3_Missense_Mutation_p.G482V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	513	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.G513V(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAACATGGTACCGGCATGAAG	0.403																																							uc002kwg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1537-1539)GGT>GTT		cadherin 2, type 1 preproprotein							174.0	153.0	160.0					18																	25570121		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570121C>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1538G>T	18.37:g.25570121C>A	ENSP00000269141:p.Gly513Val					CDH2_uc010xbn.1_Missense_Mutation_p.G482V	p.G513V	NM_001792	NP_001783	P19022	CADH2_HUMAN			10	1997	-			513			Extracellular (Potential).|Cadherin 4.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1538G>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345081	0.61073	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.70399	-0.48;-0.48	6.16	6.16	0.99307	Cadherin (3);Cadherin-like (1);	0.203908	0.51477	D	0.000088	D	0.86037	0.5837	H	0.96916	3.905	0.80722	D	1	P;P	0.47409	0.895;0.463	P;B	0.47528	0.549;0.118	D	0.89669	0.3882	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	482;513	A8MWK3;P19022	.;CADH2_HUMAN	V	513;482	ENSP00000269141:G513V;ENSP00000382312:G482V	ENSP00000269141:G513V	G	-	2	0	CDH2	23824119	0.965000	0.33210	0.990000	0.47175	0.936000	0.57629	3.631000	0.54280	2.937000	0.99478	0.650000	0.86243	GGT		0.403	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		8	61	1	0	1.26484e-09	0.00308	1.97386e-09	8	61				
CDH2	1000	broad.mit.edu	37	18	25572768	25572768	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:25572768T>A	ENST00000269141.3	-	9	1618	c.1195A>T	c.(1195-1197)Ata>Tta	p.I399L	CDH2_ENST00000399380.3_Missense_Mutation_p.I368L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	399	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.I399L(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTAGCTACTATGATGTCTACC	0.493																																							uc002kwg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1195-1197)ATA>TTA		cadherin 2, type 1 preproprotein							203.0	157.0	173.0					18																	25572768		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572768T>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1195A>T	18.37:g.25572768T>A	ENSP00000269141:p.Ile399Leu					CDH2_uc010xbn.1_Missense_Mutation_p.I368L	p.I399L	NM_001792	NP_001783	P19022	CADH2_HUMAN			9	1654	-			399			Extracellular (Potential).|Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1195A>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413333	0.25465	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.50001	0.76;0.76	5.53	4.37	0.52481	Cadherin (3);Cadherin-like (1);	0.042197	0.85682	D	0.000000	T	0.31295	0.0792	N	0.25144	0.715	0.47862	D	0.999531	B;B	0.06786	0.001;0.001	B;B	0.17433	0.005;0.018	T	0.07328	-1.0778	10	0.25106	T	0.35	.	8.9175	0.35590	0.0:0.1442:0.0:0.8558	.	368;399	A8MWK3;P19022	.;CADH2_HUMAN	L	399;368	ENSP00000269141:I399L;ENSP00000382312:I368L	ENSP00000269141:I399L	I	-	1	0	CDH2	23826766	1.000000	0.71417	0.991000	0.47740	0.901000	0.52897	3.487000	0.53222	1.026000	0.39733	0.528000	0.53228	ATA		0.493	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		7	42	0	0	0	0.00308	0	7	42				
CDH2	1000	broad.mit.edu	37	18	25573525	25573525	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:25573525G>T	ENST00000269141.3	-	8	1520	c.1097C>A	c.(1096-1098)gCc>gAc	p.A366D	CDH2_ENST00000399380.3_Missense_Mutation_p.A335D	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	366	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACGGCCGTGGCTGTGTTTGA	0.433																																							uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(1096-1098)GCC>GAC		cadherin 2, type 1 preproprotein							319.0	268.0	285.0					18																	25573525		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25573525G>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1097C>A	18.37:g.25573525G>T	ENSP00000269141:p.Ala366Asp					CDH2_uc010xbn.1_Missense_Mutation_p.A335D	p.A366D	NM_001792	NP_001783	P19022	CADH2_HUMAN			8	1556	-			366			Extracellular (Potential).|Cadherin 2.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1097C>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	34	5.340815	0.95783	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.56611	0.45;0.45	5.87	5.87	0.94306	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81903	0.4921	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85586	0.1243	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	335;366	A8MWK3;P19022	.;CADH2_HUMAN	D	366;335	ENSP00000269141:A366D;ENSP00000382312:A335D	ENSP00000269141:A366D	A	-	2	0	CDH2	23827523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GCC		0.433	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		32	111	1	0	7.11191e-15	0.002836	1.23273e-14	32	111				
DSG2	1829	broad.mit.edu	37	18	29122774	29122774	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:29122774G>C	ENST00000261590.8	+	14	2502	c.2293G>C	c.(2293-2295)Gtt>Ctt	p.V765L	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	765					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V765L(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GGCAGCTGCTGTTGCACTGAA	0.502																																							uc002kwu.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2293-2295)GTT>CTT		desmoglein 2 preproprotein							71.0	76.0	74.0					18																	29122774		2047	4203	6250	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29122774G>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2293G>C	18.37:g.29122774G>C	ENSP00000261590:p.Val765Leu					uc002kwv.3_Intron	p.V765L	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		14	2481	+			765			Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2293G>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313835	0.23908	.	.	ENSG00000046604	ENST00000261590	T	0.57907	0.37	5.6	3.81	0.43845	.	1.284600	0.05229	N	0.510045	T	0.38532	0.1044	N	0.22421	0.69	0.09310	N	0.999999	P	0.34462	0.454	B	0.31946	0.138	T	0.17077	-1.0381	10	0.12766	T	0.61	.	10.1897	0.43019	0.2514:0.0:0.7486:0.0	.	765	Q14126	DSG2_HUMAN	L	765	ENSP00000261590:V765L	ENSP00000261590:V765L	V	+	1	0	DSG2	27376772	0.005000	0.15991	0.002000	0.10522	0.018000	0.09664	1.441000	0.35035	1.361000	0.45981	0.655000	0.94253	GTT		0.502	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		12	38	0	0	0	0.000978	0	12	38				
RNF138	51444	broad.mit.edu	37	18	29706687	29706687	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:29706687G>T	ENST00000261593.3	+	7	1051	c.593G>T	c.(592-594)gGa>gTa	p.G198V	RNF138_ENST00000257190.5_Missense_Mutation_p.G104V|RP11-53I6.4_ENST00000583138.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	198					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.G198V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTCCTTGGGGAGATCCTAGC	0.299																																							uc002kxg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GGA>GTA		ring finger protein 138 isoform 1							80.0	79.0	79.0					18																	29706687		2203	4297	6500	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29706687G>T	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.593G>T	18.37:g.29706687G>T	ENSP00000261593:p.Gly198Val					RNF138_uc002kxh.2_Missense_Mutation_p.G104V	p.G198V	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN			7	1032	+			198					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.593G>T	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608160	0.66558	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D	0.90004	-2.6	4.84	4.84	0.62591	.	0.078243	0.53938	D	0.000060	D	0.93792	0.8015	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.68483	0.958;0.762	D	0.94498	0.7707	10	0.87932	D	0	-10.1651	15.0175	0.71597	0.0:0.1528:0.8472:0.0	.	104;198	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	V	198;104	ENSP00000261593:G198V	ENSP00000257190:G104V	G	+	2	0	RNF138	27960685	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.091000	0.50199	2.392000	0.81423	0.561000	0.74099	GGA		0.299	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		10	57	1	0	0.00136819	0.001368	0.00152184	10	57				
FHOD3	80206	broad.mit.edu	37	18	34081905	34081905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:34081905C>A	ENST00000359247.4	+	4	348	c.348C>A	c.(346-348)taC>taA	p.Y116*	FHOD3_ENST00000590592.1_Nonsense_Mutation_p.Y116*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.Y116*|FHOD3_ENST00000257209.4_Nonsense_Mutation_p.Y116*	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	116	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.Y116*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAAACTATACAACTCCAGCG	0.323																																							uc002kzt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(346-348)TAC>TAA		formin homology 2 domain containing 3							24.0	25.0	24.0					18																	34081905		2201	4300	6501	SO:0001587	stop_gained	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34081905C>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.348C>A	18.37:g.34081905C>A	ENSP00000352186:p.Tyr116*					FHOD3_uc002kzr.1_Nonsense_Mutation_p.Y116*|FHOD3_uc002kzs.1_Nonsense_Mutation_p.Y116*	p.Y116*	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			4	445	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	116			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Nonsense_Mutation	SNP	ENST00000359247.4	37	c.348C>A		.	.	.	.	.	.	.	.	.	.	C	27.5	4.833281	0.91036	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	.	.	.	5.45	4.58	0.56647	.	0.128082	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.236	0.54516	0.0:0.917:0.0:0.083	.	.	.	.	X	116	.	ENSP00000257209:Y116X	Y	+	3	2	FHOD3	32335903	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	1.560000	0.36331	1.438000	0.47492	0.655000	0.94253	TAC		0.323	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		4	14	1	0	0.000602214	0.000602	0.000682885	4	14				
KIAA1328	57536	broad.mit.edu	37	18	34753036	34753036	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:34753036C>T	ENST00000280020.5	+	9	1537	c.1515C>T	c.(1513-1515)acC>acT	p.T505T	KIAA1328_ENST00000543923.1_Silent_p.T397T|KIAA1328_ENST00000586135.1_Silent_p.T257T|KIAA1328_ENST00000435985.2_Silent_p.T257T|KIAA1328_ENST00000591619.1_Silent_p.T501T	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	505								p.T505T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TACAGCACACCACCTCCCGGT	0.398																																							uc002kzz.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1513-1515)ACC>ACT		hypothetical protein LOC57536							140.0	146.0	144.0					18																	34753036		2025	4186	6211	SO:0001819	synonymous_variant	57536							g.chr18:34753036C>T	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1515C>T	18.37:g.34753036C>T						KIAA1328_uc002lab.2_Silent_p.T257T|KIAA1328_uc002lac.1_Silent_p.T364T|KIAA1328_uc010dnc.1_RNA	p.T505T	NM_020776	NP_065827	Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	9	1537	+			505					Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	37	c.1515C>T	CCDS45855.1																																																																																				0.398	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		7	48	0	0	0	0.001984	0	7	48				
CTIF	9811	broad.mit.edu	37	18	46284530	46284530	+	Missense_Mutation	SNP	G	G	C	rs531198993		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:46284530G>C	ENST00000256413.3	+	8	1120	c.825G>C	c.(823-825)atG>atC	p.M275I	CTIF_ENST00000382998.4_Missense_Mutation_p.M275I	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	275	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.M227I(1)|p.M275I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AAGAGACCATGACCATCGAGA	0.647																																							uc002ldc.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(823-825)ATG>ATC		hypothetical protein LOC9811 isoform 1							92.0	86.0	88.0					18																	46284530		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284530G>C	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.825G>C	18.37:g.46284530G>C	ENSP00000256413:p.Met275Ile					KIAA0427_uc002ldd.2_Missense_Mutation_p.M275I|KIAA0427_uc002lde.3_5'Flank	p.M275I	NM_014772	NP_055587	O43310	CTIF_HUMAN			8	1110	+			275			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.825G>C	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	6.811	0.518666	0.13005	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.41400	1.0;1.0	3.81	1.94	0.25998	.	0.488372	0.19388	N	0.115490	T	0.18130	0.0435	N	0.08118	0	0.19775	N	0.999959	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13150	-1.0520	10	0.26408	T	0.33	-9.8125	4.342	0.11115	0.1173:0.0:0.6585:0.2242	.	275;275	O43310-2;O43310	.;CTIF_HUMAN	I	275;275;227	ENSP00000256413:M275I;ENSP00000372459:M275I	ENSP00000256413:M275I	M	+	3	0	CTIF	44538528	0.148000	0.22702	0.141000	0.22245	0.838000	0.47535	0.979000	0.29500	0.542000	0.28846	0.561000	0.74099	ATG		0.647	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		7	29	0	0	0	0.00308	0	7	29				
KIAA1468	57614	broad.mit.edu	37	18	59931285	59931285	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:59931285A>T	ENST00000398130.2	+	17	2646	c.2414A>T	c.(2413-2415)gAg>gTg	p.E805V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.E805V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	805								p.E805V(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GGAAGTCGTGAGCAATTGGCA	0.423																																							uc002lil.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(2413-2415)GAG>GTG		hypothetical protein LOC57614							141.0	125.0	130.0					18																	59931285		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59931285A>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2414A>T	18.37:g.59931285A>T	ENSP00000381198:p.Glu805Val					KIAA1468_uc002lik.1_Missense_Mutation_p.E805V|KIAA1468_uc010xel.1_Missense_Mutation_p.E805V|KIAA1468_uc002lim.2_Missense_Mutation_p.E449V	p.E805V	NM_020854	NP_065905	Q9P260	K1468_HUMAN			17	2629	+		Colorectal(73;0.186)	805						Missense_Mutation	SNP	ENST00000398130.2	37	c.2414A>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395280	0.62066	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.6	5.6	0.85130	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.33485	1.01	0.80722	D	1	D;D;P	0.57899	0.967;0.981;0.949	P;P;P	0.51657	0.676;0.676;0.596	T	0.55611	-0.8114	8	.	.	.	-14.0865	15.7983	0.78428	1.0:0.0:0.0:0.0	.	805;805;449	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	805	.	.	E	+	2	0	KIAA1468	58082265	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.034000	0.93747	2.140000	0.66376	0.477000	0.44152	GAG		0.423	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		12	27	0	0	0	0.001368	0	12	27				
RTTN	25914	broad.mit.edu	37	18	67869201	67869201	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:67869201T>C	ENST00000255674.6	-	4	702	c.416A>G	c.(415-417)gAa>gGa	p.E139G	RTTN_ENST00000454359.1_Missense_Mutation_p.E139G|RTTN_ENST00000437017.1_Missense_Mutation_p.E139G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	139					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E139G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGTTAAGATTTCAGGGTTTTT	0.363																																							uc002lkp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(415-417)GAA>GGA		rotatin							84.0	79.0	81.0					18																	67869201		1813	4078	5891	SO:0001583	missense	25914						binding	g.chr18:67869201T>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.416A>G	18.37:g.67869201T>C	ENSP00000255674:p.Glu139Gly					RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.E139G	p.E139G	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			4	484	-		Esophageal squamous(42;0.129)	139					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.416A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	8.922	0.961255	0.18583	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.66280	0.54;0.4;-0.2	5.53	3.05	0.35203	Armadillo-type fold (2);	0.332071	0.27388	N	0.019593	T	0.44180	0.1281	L	0.39898	1.24	0.28764	N	0.900725	B;B	0.28055	0.082;0.199	B;B	0.26969	0.036;0.075	T	0.28933	-1.0028	10	0.26408	T	0.33	.	2.073	0.03618	0.1746:0.085:0.1567:0.5837	.	139;139	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	G	139	ENSP00000255674:E139G;ENSP00000402352:E139G;ENSP00000399520:E139G	ENSP00000255674:E139G	E	-	2	0	RTTN	66020181	0.996000	0.38824	0.998000	0.56505	0.644000	0.38419	0.596000	0.24044	0.342000	0.23796	-0.316000	0.08728	GAA		0.363	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		7	22	0	0	0	0.00308	0	7	22				
NETO1	81832	broad.mit.edu	37	18	70461637	70461637	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:70461637G>T	ENST00000327305.6	-	5	1129	c.472C>A	c.(472-474)Cct>Act	p.P158T	NETO1_ENST00000583169.1_Missense_Mutation_p.P158T|NETO1_ENST00000299430.2_Missense_Mutation_p.P157T	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	158					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.P158T(3)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTAAAGTCAGGATCTTAAAAA	0.299																																							uc002lkw.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)	4						c.(472-474)CCT>ACT		neuropilin- and tolloid-like protein 1 isoform 3							74.0	80.0	78.0					18																	70461637		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461637G>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.472C>A	18.37:g.70461637G>T	ENSP00000313088:p.Pro158Thr					NETO1_uc002lkx.1_Missense_Mutation_p.P157T|NETO1_uc002lky.1_Missense_Mutation_p.P158T	p.P158T	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	5	756	-		Esophageal squamous(42;0.129)	158			Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.472C>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668025	0.88348	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.35048	1.33;1.33	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000012	T	0.65322	0.2680	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.68891	-0.5289	10	0.87932	D	0	-15.235	19.6103	0.95602	0.0:0.0:1.0:0.0	.	157;158	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	T	158;157	ENSP00000313088:P158T;ENSP00000299430:P157T	ENSP00000299430:P157T	P	-	1	0	NETO1	68612617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.838000	0.92115	2.629000	0.89072	0.655000	0.94253	CCT		0.299	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		19	52	1	0	2.37509e-13	0.010504	4.01176e-13	19	52				
CNDP1	84735	broad.mit.edu	37	18	72247405	72247405	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:72247405A>G	ENST00000358821.3	+	10	1435	c.1207A>G	c.(1207-1209)Agt>Ggt	p.S403G	CNDP1_ENST00000582365.1_Missense_Mutation_p.S360G	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	403						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.S403G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CAAAAGAAATAGTTCCAACAA	0.388																																					Melanoma(32;1029 1042 25286 38395 44237)	Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)AGT>GGT		carnosinase 1 precursor							111.0	104.0	106.0					18																	72247405		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72247405A>G		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1207A>G	18.37:g.72247405A>G	ENSP00000351682:p.Ser403Gly					CNDP1_uc002lls.2_Missense_Mutation_p.S206G	p.S403G	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	10	1418	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	403					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1207A>G	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987090	0.74589	.	.	ENSG00000150656	ENST00000358821	T	0.17370	2.28	5.04	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	M	0.88640	2.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.48854	-0.8998	10	0.87932	D	0	-11.8824	10.3063	0.43683	0.8522:0.0:0.0:0.1478	.	403	Q96KN2	CNDP1_HUMAN	G	403	ENSP00000351682:S403G	ENSP00000351682:S403G	S	+	1	0	CNDP1	70398385	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	5.972000	0.70448	0.741000	0.32674	0.460000	0.39030	AGT		0.388	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		7	17	0	0	0	0.001984	0	7	17				
ZNF236	7776	broad.mit.edu	37	18	74592256	74592256	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:74592256A>G	ENST00000253159.8	+	8	1364	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	ZNF236_ENST00000320610.9_Missense_Mutation_p.N391S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	389					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N389S(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTGGGCATCAACCAGGACATT	0.587																																							uc002lmi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1165-1167)AAC>AGC		zinc finger protein 236							18.0	21.0	20.0					18																	74592256		2112	4237	6349	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74592256A>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1166A>G	18.37:g.74592256A>G	ENSP00000253159:p.Asn389Ser					ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.N389S	p.N389S	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	8	1364	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	389					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.1166A>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.006238	0.35415	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10288	2.89;3.0	5.23	-1.84	0.07809	.	0.108252	0.64402	N	0.000010	T	0.07999	0.0200	L	0.55103	1.725	0.38732	D	0.953685	B;B	0.25351	0.124;0.028	B;B	0.17979	0.02;0.012	T	0.44283	-0.9338	10	0.05833	T	0.94	.	11.6671	0.51381	0.5851:0.0:0.4149:0.0	.	389;389	Q9NWI2;Q9UL36	.;ZN236_HUMAN	S	389	ENSP00000253159:N389S;ENSP00000444524:N389S	ENSP00000253159:N389S	N	+	2	0	ZNF236	72721244	1.000000	0.71417	0.990000	0.47175	0.856000	0.48823	1.470000	0.35354	-0.589000	0.05874	-0.584000	0.04131	AAC		0.587	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			5	27	0	0	0	0.000602	0	5	27				
SALL3	27164	broad.mit.edu	37	18	76753771	76753771	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:76753771A>T	ENST00000537592.2	+	2	1780	c.1780A>T	c.(1780-1782)Act>Tct	p.T594S	SALL3_ENST00000536229.3_Missense_Mutation_p.T461S|SALL3_ENST00000575389.2_Missense_Mutation_p.T594S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	594					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T594S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCGCCCCTCACTAAAGCCGA	0.736																																							uc002lmt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1780-1782)ACT>TCT		sal-like 3							3.0	4.0	4.0					18																	76753771		1727	3670	5397	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753771A>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1780A>T	18.37:g.76753771A>T	ENSP00000441823:p.Thr594Ser					SALL3_uc010dra.2_Missense_Mutation_p.T201S	p.T594S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1780	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	594					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1780A>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	A	0.818	-0.749471	0.03065	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08102	3.13	4.67	2.21	0.28008	.	0.212522	0.32161	N	0.006495	T	0.07908	0.0198	L	0.51422	1.61	0.09310	N	1	B;B	0.17465	0.022;0.011	B;B	0.18561	0.022;0.005	T	0.41161	-0.9524	10	0.08837	T	0.75	-23.9841	12.0923	0.53733	0.5473:0.4527:0.0:0.0	.	326;594	F5GXY4;Q9BXA9	.;SALL3_HUMAN	S	594;594;326	ENSP00000441823:T594S	ENSP00000299466:T594S	T	+	1	0	SALL3	74854759	0.005000	0.15991	0.100000	0.21137	0.001000	0.01503	0.265000	0.18515	0.355000	0.24131	-0.460000	0.05396	ACT		0.736	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	4	0	0	0	0.004672	0	3	4				
SALL3	27164	broad.mit.edu	37	18	76757010	76757010	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:76757010G>T	ENST00000537592.2	+	3	3591	c.3591G>T	c.(3589-3591)caG>caT	p.Q1197H	SALL3_ENST00000536229.3_Missense_Mutation_p.Q992H|SALL3_ENST00000575389.2_Missense_Mutation_p.Q1125H	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1197					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1197H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AAATGTTCCAGAAGGACCTGG	0.577																																							uc002lmt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3589-3591)CAG>CAT		sal-like 3							65.0	65.0	65.0					18																	76757010		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76757010G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3591G>T	18.37:g.76757010G>T	ENSP00000441823:p.Gln1197His					SALL3_uc010dra.2_Missense_Mutation_p.Q732H	p.Q1197H	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3591	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1197					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.3591G>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278139	0.23307	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10763	2.84	5.09	2.67	0.31697	.	0.000000	0.53938	D	0.000047	T	0.32285	0.0824	M	0.82323	2.585	0.53005	D	0.999967	D;D	0.89917	0.999;1.0	D;D	0.83275	0.965;0.996	T	0.07809	-1.0753	10	0.45353	T	0.12	-38.7273	11.2415	0.48972	0.2429:0.0:0.7571:0.0	.	857;1197	F5GXY4;Q9BXA9	.;SALL3_HUMAN	H	1197;1125;857	ENSP00000441823:Q1197H	ENSP00000299466:Q1197H	Q	+	3	2	SALL3	74857998	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.061000	0.49963	0.970000	0.38263	0.561000	0.74099	CAG		0.577	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		10	38	1	0	0.000442599	0.006214	0.000512261	10	38				
S1PR4	8698	broad.mit.edu	37	19	3179494	3179494	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:3179494A>G	ENST00000246115.3	+	1	759	c.704A>G	c.(703-705)cAg>cGg	p.Q235R	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	235					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.Q235R(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GCCAGCGGGCAGAAGGCCCCA	0.677																																					GBM(82;318 1638 33279 49708)	GBM(82;318 1638 33279 49708)	uc002lxg.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(703-705)CAG>CGG		sphingosine-1-phosphate receptor 4 precursor							38.0	42.0	41.0					19																	3179494		2203	4297	6500	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179494A>G	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.704A>G	19.37:g.3179494A>G	ENSP00000246115:p.Gln235Arg						p.Q235R	NM_003775	NP_003766	O95977	S1PR4_HUMAN			1	729	+			235			Cytoplasmic (By similarity).		D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.704A>G	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.333581	0.00227	.	.	ENSG00000125910	ENST00000246115	T	0.33654	1.4	4.23	0.864	0.19068	GPCR, rhodopsin-like superfamily (1);	0.261386	0.31847	N	0.006968	T	0.15565	0.0375	N	0.16307	0.4	0.25856	N	0.983889	B	0.06786	0.001	B	0.08055	0.003	T	0.34428	-0.9829	10	0.02654	T	1	.	7.3643	0.26764	0.5332:0.0:0.4668:0.0	.	235	O95977	S1PR4_HUMAN	R	235	ENSP00000246115:Q235R	ENSP00000246115:Q235R	Q	+	2	0	S1PR4	3130494	0.223000	0.23663	0.021000	0.16686	0.013000	0.08279	0.896000	0.28377	-0.175000	0.10725	-0.464000	0.05259	CAG		0.677	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		22	32	0	0	0	0.003954	0	22	32				
NMRK2	27231	broad.mit.edu	37	19	3942236	3942236	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:3942236G>T	ENST00000168977.2	+	8	948	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S	NMRK2_ENST00000593949.1_Missense_Mutation_p.A225S|NMRK2_ENST00000599576.1_3'UTR	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	220					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)	p.A220S(1)									CCACAGAACGGCCAGGCCTGC	0.667																																							uc002lyz.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(658-660)GCC>TCC		integrin beta 1 binding protein 3							21.0	20.0	21.0					19																	3942236		2201	4297	6498	SO:0001583	missense	27231				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity	g.chr19:3942236G>T	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.658G>T	19.37:g.3942236G>T	ENSP00000168977:p.Ala220Ser					ITGB1BP3_uc010xia.1_Missense_Mutation_p.A225S	p.A220S	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	8	948	+		Hepatocellular(1079;0.137)	220					B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	c.658G>T	CCDS12115.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917676	0.33815	.	.	ENSG00000077009	ENST00000168977;ENST00000395034	T	0.49139	0.79	2.12	2.12	0.27331	.	.	.	.	.	T	0.24699	0.0599	N	0.08118	0	0.09310	N	1	B;B	0.27416	0.178;0.178	B;B	0.16722	0.016;0.016	T	0.13442	-1.0509	9	0.48119	T	0.1	-0.7654	7.7057	0.28648	0.0:0.0:1.0:0.0	.	225;220	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	S	220;176	ENSP00000168977:A220S	ENSP00000168977:A220S	A	+	1	0	ITGB1BP3	3893236	0.007000	0.16637	0.230000	0.23976	0.205000	0.24178	0.383000	0.20651	1.173000	0.42796	0.485000	0.47835	GCC		0.667	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		4	14	1	0	0.000602214	0.000602	0.000682885	4	14				
SEMA6B	10501	broad.mit.edu	37	19	4556015	4556015	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:4556015C>A	ENST00000586582.1	-	6	766	c.456G>T	c.(454-456)gtG>gtT	p.V152V	SEMA6B_ENST00000586965.1_Silent_p.V152V|SEMA6B_ENST00000301293.3_Silent_p.V152V	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	152	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V152V(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTGGCGCACACCGGGTTGA	0.627																																							uc010duc.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(454-456)GTG>GTT		semaphorin 6B precursor							109.0	94.0	99.0					19																	4556015		2203	4300	6503	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4556015C>A	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.456G>T	19.37:g.4556015C>A						SEMA6B_uc010dud.2_Silent_p.V152V|SEMA6B_uc010xih.1_Silent_p.V152V	p.V152V	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	5	494	-		Hepatocellular(1079;0.137)	152			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.456G>T	CCDS12131.1																																																																																				0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		11	28	1	0	0.00185496	0.001855	0.00205542	11	28				
TUBB4A	10382	broad.mit.edu	37	19	6495419	6495419	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:6495419G>T	ENST00000264071.2	-	4	1462	c.1091C>A	c.(1090-1092)gCc>gAc	p.A364D	CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.A364D|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	364					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A364D(1)									GAAGGTCGCGGCCATCTTCAG	0.622																																							uc002mfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1090-1092)GCC>GAC		tubulin, beta 4							178.0	155.0	162.0					19																	6495419		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495419G>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1091C>A	19.37:g.6495419G>T	ENSP00000264071:p.Ala364Asp					TUBB4_uc002mff.1_Missense_Mutation_p.A292D|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.A364D	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	1198	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	364					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1091C>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763301	0.49574	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84800	-1.9;-1.9	3.43	3.43	0.39272	.	0.253124	0.30419	U	0.009671	D	0.92737	0.7691	H	0.96662	3.86	0.54753	D	0.999982	P	0.45044	0.849	P	0.51550	0.673	D	0.94802	0.7971	10	0.87932	D	0	.	13.6752	0.62449	0.0:0.0:1.0:0.0	.	364	P04350	TBB4A_HUMAN	D	364;364;282	ENSP00000264071:A364D;ENSP00000443590:A364D	ENSP00000264071:A364D	A	-	2	0	TUBB4	6446419	1.000000	0.71417	0.993000	0.49108	0.860000	0.49131	9.676000	0.98643	1.473000	0.48159	0.306000	0.20318	GCC		0.622	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		48	99	1	0	5.39261e-20	0.00361	9.97667e-20	48	99				
PEX11G	92960	broad.mit.edu	37	19	7543247	7543247	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:7543247C>A	ENST00000221480.1	-	4	452	c.444G>T	c.(442-444)ctG>ctT	p.L148L	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000593942.1_Silent_p.L78L	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	148					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)		p.L148L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						TCAGTTTCAGCAGCATCCACA	0.677																																							uc002mgk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)CTG>CTT		peroxisomal biogenesis factor 11 gamma							33.0	31.0	31.0					19																	7543247		2202	4300	6502	SO:0001819	synonymous_variant	92960					integral to membrane|peroxisomal membrane		g.chr19:7543247C>A	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.444G>T	19.37:g.7543247C>A						PEX11G_uc002mgl.1_Silent_p.L78L	p.L148L	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN			4	453	-			148			Helical; (Potential).		Q8NDM0	Silent	SNP	ENST00000221480.1	37	c.444G>T	CCDS12178.1																																																																																				0.677	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		6	13	1	0	0.00198382	0.001984	0.00217995	6	13				
PNPLA6	10908	broad.mit.edu	37	19	7606248	7606248	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:7606248G>T	ENST00000221249.6	+	11	1247	c.816G>T	c.(814-816)atG>atT	p.M272I	PNPLA6_ENST00000600737.1_Missense_Mutation_p.M311I|PNPLA6_ENST00000545201.2_Missense_Mutation_p.M272I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.M272I|PNPLA6_ENST00000414982.3_Missense_Mutation_p.M320I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	311					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.M272I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGATCATCATGGTGCGGCTGC	0.642																																							uc010xjq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(958-960)ATG>ATT		neuropathy target esterase isoform b							45.0	39.0	41.0					19																	7606248		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7606248G>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.816G>T	19.37:g.7606248G>T	ENSP00000221249:p.Met272Ile					PNPLA6_uc002mgq.1_Missense_Mutation_p.M272I|PNPLA6_uc010xjp.1_Missense_Mutation_p.M272I|PNPLA6_uc002mgr.1_Missense_Mutation_p.M272I|PNPLA6_uc002mgs.2_Missense_Mutation_p.M311I	p.M320I	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			10	1155	+			311			cNMP 1.|Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.960G>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953689	0.92660	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.99	4.99	0.66335	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.79123	2.44	0.80722	D	1	B;D;P;D	0.76494	0.43;0.999;0.565;0.985	B;D;P;P	0.77004	0.403;0.989;0.607;0.828	T	0.69461	-0.5139	10	0.59425	D	0.04	.	15.797	0.78420	0.0:0.0:1.0:0.0	.	311;272;311;272	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	I	272;272;320;209;272	ENSP00000221249:M272I;ENSP00000443323:M272I;ENSP00000407509:M320I;ENSP00000394348:M272I	ENSP00000221249:M272I	M	+	3	0	PNPLA6	7512248	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.609000	0.98334	2.311000	0.77944	0.462000	0.41574	ATG		0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		4	22	1	0	0.00909568	0.009096	0.00969496	4	22				
FBN3	84467	broad.mit.edu	37	19	8130964	8130964	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:8130964C>A	ENST00000600128.1	-	64	8683	c.8269G>T	c.(8269-8271)Ggc>Tgc	p.G2757C	FBN3_ENST00000270509.2_Missense_Mutation_p.G2757C|FBN3_ENST00000601739.1_Missense_Mutation_p.G2757C			Q75N90	FBN3_HUMAN	fibrillin 3	2757						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2757C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGCTGACGCCACGGAGGTGA	0.682																																							uc002mjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(8269-8271)GGC>TGC		fibrillin 3 precursor							60.0	62.0	61.0					19																	8130964		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130964C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8269G>T	19.37:g.8130964C>A	ENSP00000470498:p.Gly2757Cys					FBN3_uc002mje.2_Missense_Mutation_p.G553C	p.G2757C	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			63	8290	-			2757					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.8269G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037591	0.35989	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.89270	-2.49	4.66	1.25	0.21368	.	0.061993	0.64402	U	0.000004	D	0.89774	0.6812	M	0.79475	2.455	0.18873	N	0.999981	D;D	0.55172	0.97;0.97	P;P	0.51487	0.498;0.671	T	0.82835	-0.0261	10	0.87932	D	0	.	7.5618	0.27855	0.0:0.7092:0.1368:0.154	.	2757;820	Q75N90;Q6ZNB8	FBN3_HUMAN;.	C	2757;820	ENSP00000270509:G2757C	ENSP00000270509:G2757C	G	-	1	0	FBN3	8036964	0.296000	0.24398	0.000000	0.03702	0.005000	0.04900	1.970000	0.40520	0.134000	0.18681	0.591000	0.81541	GGC		0.682	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		20	60	1	0	4.35082e-09	0.010504	6.67523e-09	20	60				
ACTL9	284382	broad.mit.edu	37	19	8808127	8808127	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:8808127C>A	ENST00000324436.3	-	1	1045	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	309						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G309W(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGTGACAGCCCCGGGACCTCT	0.642																																							uc002mkl.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(925-927)GGG>TGG		actin-like 9							37.0	39.0	38.0					19																	8808127		2202	4297	6499	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808127C>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.925G>T	19.37:g.8808127C>A	ENSP00000316674:p.Gly309Trp						p.G309W	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	1046	-			309					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.925G>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	13.91	2.377918	0.42105	.	.	ENSG00000181786	ENST00000324436	D	0.94457	-3.43	4.63	3.6	0.41247	.	0.000000	0.36374	U	0.002624	D	0.95121	0.8419	L	0.39245	1.2	0.48762	D	0.999702	D	0.89917	1.0	D	0.91635	0.999	D	0.95128	0.8252	10	0.87932	D	0	.	11.8874	0.52610	0.0:0.9134:0.0:0.0866	.	309	Q8TC94	ACTL9_HUMAN	W	309	ENSP00000316674:G309W	ENSP00000316674:G309W	G	-	1	0	ACTL9	8669127	0.287000	0.24315	0.388000	0.26195	0.163000	0.22366	2.118000	0.41949	1.319000	0.45190	0.306000	0.20318	GGG		0.642	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		15	43	1	0	1.02788e-11	0.00499	1.6949e-11	15	43				
MUC16	94025	broad.mit.edu	37	19	9076553	9076553	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9076553G>T	ENST00000397910.4	-	3	11096	c.10893C>A	c.(10891-10893)ccC>ccA	p.P3631P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3632	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P3631P(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACGGCCATGGGGAGTAGACA	0.438																																							uc002mkp.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(10891-10893)CCC>CCA		mucin 16							143.0	149.0	147.0					19																	9076553		1976	4152	6128	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076553G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10893C>A	19.37:g.9076553G>T							p.P3631P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11097	-			3632			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.10893C>A	CCDS54212.1																																																																																				0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	45	1	0	0.006122	0.006122	0.00658806	16	45				
MUC16	94025	broad.mit.edu	37	19	9082905	9082906	+	Missense_Mutation	DNP	CA	CA	AT	rs371915094		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9082905_9082906CA>AT	ENST00000397910.4	-	1	9112_9113	c.8909_8910TG>AT	c.(8908-8910)aTG>aAT	p.M2970N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2971	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.M2970N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGCCCTGCCATAGAAGGGGA	0.51																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8908-8910)ATG>AAT		mucin 16																																				SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082905_9082906CA>AT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8909_8910delinsAT	19.37:g.9082905_9082906delinsAT	ENSP00000381008:p.Met2970Asn						p.M2970N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	9113_9114	-			2971			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	DNP	ENST00000397910.4	37	c.8909_8910TG>AT	CCDS54212.1																																																																																				0.510	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	54	0	0	0	0.004672	0	34	54				
MUC16	94025	broad.mit.edu	37	19	9088391	9088391	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9088391C>A	ENST00000397910.4	-	1	3627	c.3424G>T	c.(3424-3426)Gat>Tat	p.D1142Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1142	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D1142Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGGATCAGGAGATGGA	0.458																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3424-3426)GAT>TAT		mucin 16							122.0	120.0	121.0					19																	9088391		2098	4226	6324	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088391C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3424G>T	19.37:g.9088391C>A	ENSP00000381008:p.Asp1142Tyr						p.D1142Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3628	-			1142			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3424G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.893	-0.455000	0.04540	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	0.935	0.935	0.19483	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	.	.	.	P	0.36438	0.553	B	0.32465	0.146	T	0.39881	-0.9592	8	0.87932	D	0	.	5.1905	0.15207	0.0:1.0:0.0:0.0	.	1142	B5ME49	.	Y	1142	ENSP00000381008:D1142Y	ENSP00000381008:D1142Y	D	-	1	0	MUC16	8949391	0.000000	0.05858	0.006000	0.13384	0.165000	0.22458	-0.565000	0.05929	0.792000	0.33850	0.305000	0.20034	GAT		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	27	1	0	2.62699e-14	0.003163	4.50518e-14	15	27				
MUC16	94025	broad.mit.edu	37	19	9089293	9089293	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9089293G>A	ENST00000397910.4	-	1	2725	c.2522C>T	c.(2521-2523)cCa>cTa	p.P841L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	841	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P841L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGACACTTGGGAGGCTGAG	0.468																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2521-2523)CCA>CTA		mucin 16							156.0	147.0	150.0					19																	9089293		1974	4162	6136	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089293G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2522C>T	19.37:g.9089293G>A	ENSP00000381008:p.Pro841Leu						p.P841L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2726	-			841			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2522C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.925	-0.222354	0.06061	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	1.56	-0.91	0.10511	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	.	.	.	B	0.21381	0.055	B	0.12156	0.007	T	0.44050	-0.9353	8	0.87932	D	0	.	2.7245	0.05210	0.2126:0.3088:0.4786:0.0	.	841	B5ME49	.	L	841	ENSP00000381008:P841L	ENSP00000381008:P841L	P	-	2	0	MUC16	8950293	0.001000	0.12720	0.000000	0.03702	0.082000	0.17680	0.387000	0.20718	-0.176000	0.10707	0.205000	0.17691	CCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	55	0	0	0	0.003271	0	31	55				
FBXL12	54850	broad.mit.edu	37	19	9921870	9921870	+	Missense_Mutation	SNP	C	C	A	rs375844904		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9921870C>A	ENST00000247977.4	-	3	924	c.683G>T	c.(682-684)cGa>cTa	p.R228L	FBXL12_ENST00000591009.1_Missense_Mutation_p.R175L|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.R175L	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	228					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)		p.R228L(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCGCACATCTCGGAGGTGGCG	0.667																																							uc002mme.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(682-684)CGA>CTA		F-box and leucine-rich repeat protein 12							26.0	28.0	27.0					19																	9921870		2203	4300	6503	SO:0001583	missense	54850						protein binding	g.chr19:9921870C>A	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.683G>T	19.37:g.9921870C>A	ENSP00000247977:p.Arg228Leu					FBXL12_uc002mmd.2_Missense_Mutation_p.R175L|FBXL12_uc002mmf.2_Missense_Mutation_p.R175L|FBXL12_uc002mmg.2_Missense_Mutation_p.R175L|FBXL12_uc002mmh.2_Missense_Mutation_p.R175L	p.R228L	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			3	925	-			228			LRR 6.		B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.683G>T	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713496	0.30413	.	.	ENSG00000127452	ENST00000247977	T	0.16897	2.31	4.55	0.873	0.19118	.	0.425847	0.20343	N	0.094187	T	0.05914	0.0154	N	0.08118	0	0.23192	N	0.998149	P	0.44090	0.826	B	0.35607	0.206	T	0.35076	-0.9803	9	.	.	.	.	6.1959	0.20550	0.0:0.5312:0.3665:0.1023	.	228	Q9NXK8	FXL12_HUMAN	L	228	ENSP00000247977:R228L	.	R	-	2	0	FBXL12	9782870	0.922000	0.31269	0.323000	0.25347	0.907000	0.53573	1.742000	0.38248	0.608000	0.30000	0.563000	0.77884	CGA		0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703		4	13	1	0	0.000602214	0.000602	0.000682885	4	13				
ICAM5	7087	broad.mit.edu	37	19	10405227	10405227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:10405227G>T	ENST00000221980.4	+	9	2204	c.2141G>T	c.(2140-2142)cGc>cTc	p.R714L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	714	Ig-like C2-type 8.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R714L(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCAGCAGCGCGTGTCCCGA	0.697																																							uc002mnu.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(2140-2142)CGC>CTC		intercellular adhesion molecule 5 precursor							37.0	32.0	34.0					19																	10405227		2202	4300	6502	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10405227G>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2141G>T	19.37:g.10405227G>T	ENSP00000221980:p.Arg714Leu					ICAM5_uc002mnv.3_Missense_Mutation_p.R589L	p.R714L	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		9	2206	+			714			Extracellular (Potential).|Ig-like C2-type 8.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.2141G>T	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	9.927	1.213718	0.22289	.	.	ENSG00000105376	ENST00000221980	T	0.75154	-0.91	5.57	0.827	0.18835	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.759254	0.11781	N	0.530186	T	0.68577	0.3016	M	0.73962	2.25	0.09310	N	1	P	0.36354	0.549	B	0.36092	0.217	T	0.57236	-0.7846	10	0.38643	T	0.18	-6.6812	4.2381	0.10635	0.1762:0.0:0.5076:0.3162	.	714	Q9UMF0	ICAM5_HUMAN	L	714	ENSP00000221980:R714L	ENSP00000221980:R714L	R	+	2	0	ICAM5	10266227	0.000000	0.05858	0.052000	0.19188	0.448000	0.32197	-0.075000	0.11431	0.008000	0.14787	0.542000	0.68232	CGC		0.697	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		12	7	1	0	1.61879e-10	0.001368	2.59577e-10	12	7				
KEAP1	9817	broad.mit.edu	37	19	10610415	10610415	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:10610415C>A	ENST00000171111.5	-	2	842	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.V99L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.V99L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GAGGCCAGCACCACCTTGTGG	0.612																																							uc002moq.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(295-297)GTG>TTG		kelch-like ECH-associated protein 1							84.0	67.0	73.0					19																	10610415		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610415C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.295G>T	19.37:g.10610415C>A	ENSP00000171111:p.Val99Leu					KEAP1_uc002mor.1_Missense_Mutation_p.V99L	p.V99L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	451	-			99			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.295G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364792	0.82463	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72835	-0.69;-0.69	4.68	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86003	0.1496	10	0.66056	D	0.02	.	15.0979	0.72250	0.0:1.0:0.0:0.0	.	99	Q14145	KEAP1_HUMAN	L	99	ENSP00000171111:V99L;ENSP00000377245:V99L	ENSP00000171111:V99L	V	-	1	0	KEAP1	10471415	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.862000	0.62976	2.162000	0.67917	0.462000	0.41574	GTG		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		19	17	1	0	7.45023e-12	0.010504	1.23267e-11	19	17				
TMED1	11018	broad.mit.edu	37	19	10946030	10946030	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:10946030C>T	ENST00000214869.2	-	2	282		c.e2-1		TMED1_ENST00000588289.1_Splice_Site|C19orf38_ENST00000592854.1_5'Flank|TMED1_ENST00000591695.1_Splice_Site	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1						cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.?(1)		breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CTCCGATCACCTGGGGGGCAG	0.627																																							uc002mpy.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.e2-1		interleukin 1 receptor-like 1 ligand precursor							63.0	53.0	56.0					19																	10946030		2203	4300	6503	SO:0001630	splice_region_variant	11018				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding	g.chr19:10946030C>T	U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.184-1G>A	19.37:g.10946030C>T							p.V62_splice	NM_006858	NP_006849	Q13445	TMED1_HUMAN			2	300	-									Splice_Site	SNP	ENST00000214869.2	37	c.184_splice	CCDS12249.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503996	0.85176	.	.	ENSG00000099203	ENST00000214869	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1904	0.89805	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMED1	10807030	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.206000	0.77891	2.587000	0.87381	0.561000	0.74099	.		0.627	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858	Intron	28	37	0	0	0	0.002445	0	28	37				
LDLR	3949	broad.mit.edu	37	19	11224363	11224363	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:11224363A>G	ENST00000558518.1	+	10	1698	c.1511A>G	c.(1510-1512)aAg>aGg	p.K504R	LDLR_ENST00000535915.1_Missense_Mutation_p.K463R|LDLR_ENST00000545707.1_Missense_Mutation_p.K377R|LDLR_ENST00000557933.1_Missense_Mutation_p.K504R|LDLR_ENST00000558013.1_Missense_Mutation_p.K504R|LDLR_ENST00000455727.2_Missense_Mutation_p.K336R	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	504					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.K504R(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GCGGATACCAAGGGCGTGAAG	0.587																																					GBM(18;201 575 7820 21545)	GBM(18;201 575 7820 21545)	uc002mqk.3		NA																	2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(2)|skin(2)	4						c.(1510-1512)AAG>AGG		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						113.0	90.0	98.0					19																	11224363		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224363A>G	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1511A>G	19.37:g.11224363A>G	ENSP00000454071:p.Lys504Arg					LDLR_uc010xlk.1_Missense_Mutation_p.K504R|LDLR_uc010xll.1_Missense_Mutation_p.K463R|LDLR_uc010xlm.1_Missense_Mutation_p.K357R|LDLR_uc010xln.1_Missense_Mutation_p.K377R|LDLR_uc010xlo.1_Missense_Mutation_p.K336R	p.K504R	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	10	1679	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	504			Extracellular (Potential).|LDL-receptor class B 3.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1511A>G	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	A	8.903	0.956736	0.18507	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.96041	-3.89;-3.89;-3.89	4.72	-4.06	0.03986	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.505517	0.17783	N	0.162141	D	0.89829	0.6828	L	0.33189	0.99	0.28089	N	0.931885	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.09377	0.004;0.003;0.004;0.003;0.004;0.004	T	0.76372	-0.2983	10	0.51188	T	0.08	.	11.5607	0.50774	0.5152:0.0:0.4848:0.0	.	336;377;383;463;516;504	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	R	504;377;463;336	ENSP00000437639:K377R;ENSP00000440520:K463R;ENSP00000397829:K336R	ENSP00000252444:K504R	K	+	2	0	LDLR	11085363	0.986000	0.35501	0.053000	0.19242	0.008000	0.06430	1.762000	0.38451	-1.099000	0.03034	-0.421000	0.06004	AAG		0.587	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			22	17	0	0	0	0.00333	0	22	17				
ASNA1	439	broad.mit.edu	37	19	12856311	12856311	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:12856311G>A	ENST00000591090.1	+	4	532	c.430G>A	c.(430-432)Gag>Aag	p.E144K	ASNA1_ENST00000357332.3_Missense_Mutation_p.E144K					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)									p.E144K(1)		endometrium(1)|lung(6)|ovary(3)	10						CGGCATCGATGAGGCCATGAG	0.632																																							uc002muv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(430-432)GAG>AAG		arsA arsenite transporter, ATP-binding, homolog	Adenosine triphosphate(DB00171)						71.0	62.0	65.0					19																	12856311		2203	4300	6503	SO:0001583	missense	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12856311G>A	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.430G>A	19.37:g.12856311G>A	ENSP00000466379:p.Glu144Lys					ASNA1_uc002muw.2_Missense_Mutation_p.E143K	p.E144K	NM_004317	NP_004308	O43681	ASNA_HUMAN			3	444	+			144						Missense_Mutation	SNP	ENST00000591090.1	37	c.430G>A	CCDS32920.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426560	0.96131	.	.	ENSG00000198356	ENST00000357332	T	0.60424	0.19	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90323	0.4346	10	0.87932	D	0	-39.2836	18.2255	0.89916	0.0:0.0:1.0:0.0	.	126;144	E7EVN0;O43681	.;ASNA_HUMAN	K	144	ENSP00000349887:E144K	ENSP00000349887:E144K	E	+	1	0	ASNA1	12717311	1.000000	0.71417	0.988000	0.46212	0.942000	0.58702	8.982000	0.93471	2.605000	0.88082	0.655000	0.94253	GAG		0.632	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		21	25	0	0	0	0.010504	0	21	25				
HOOK2	29911	broad.mit.edu	37	19	12877045	12877045	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:12877045G>C	ENST00000397668.3	-	15	1456	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Silent_p.L461L	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	461	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.L461L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GAAGCCGCAGGAGCGTCTCCC	0.706											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002muy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1381-1383)CTC>CTG		hook homolog 2 isoform 1							5.0	6.0	6.0					19																	12877045		1835	3958	5793	SO:0001819	synonymous_variant	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12877045G>C	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1383C>G	19.37:g.12877045G>C			OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_uc010xmq.1_5'UTR|HOOK2_uc002muz.2_Silent_p.L461L	p.L461L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			15	1554	-			461			Sufficient for interaction with microtubules.|Potential.		O60562	Silent	SNP	ENST00000397668.3	37	c.1383C>G	CCDS42508.1																																																																																				0.706	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		4	6	0	0	0	0.001168	0	4	6				
CYP4F2	8529	broad.mit.edu	37	19	16008282	16008282	+	Missense_Mutation	SNP	C	C	G	rs570092372		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:16008282C>G	ENST00000221700.6	-	2	235	c.140G>C	c.(139-141)cGc>cCc	p.R47P	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R47P(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACACCGAAGGCGGCGGCAGTT	0.627																																							uc002nbs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(139-141)CGC>CCC		cytochrome P450, family 4, subfamily F,							99.0	95.0	97.0					19																	16008282		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16008282C>G	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.140G>C	19.37:g.16008282C>G	ENSP00000221700:p.Arg47Pro					CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	p.R47P	NM_001082	NP_001073	P78329	CP4F2_HUMAN			2	190	-			47						Missense_Mutation	SNP	ENST00000221700.6	37	c.140G>C	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	15.01	2.706900	0.48412	.	.	ENSG00000186115	ENST00000221700	D	0.91740	-2.9	2.99	-3.98	0.04082	.	0.323656	0.22613	U	0.057806	D	0.90590	0.7050	M	0.66939	2.045	0.09310	N	0.999998	P	0.46912	0.886	P	0.53954	0.738	D	0.83606	0.0131	10	0.51188	T	0.08	.	3.6943	0.08358	0.1665:0.411:0.0:0.4225	.	47	P78329	CP4F2_HUMAN	P	47	ENSP00000221700:R47P	ENSP00000221700:R47P	R	-	2	0	CYP4F2	15869282	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.929000	0.03976	-0.880000	0.03997	0.479000	0.44913	CGC		0.627	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		9	41	0	0	0	0.001855	0	9	41				
CYP4F2	8529	broad.mit.edu	37	19	16008286	16008286	+	Missense_Mutation	SNP	G	G	C	rs559132777		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:16008286G>C	ENST00000221700.6	-	2	231	c.136C>G	c.(136-138)Cgc>Ggc	p.R46G	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R46G(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGAAGGCGGCGGCAGTTGTCA	0.632																																							uc002nbs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(136-138)CGC>GGC		cytochrome P450, family 4, subfamily F,							92.0	90.0	91.0					19																	16008286		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16008286G>C	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.136C>G	19.37:g.16008286G>C	ENSP00000221700:p.Arg46Gly					CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	p.R46G	NM_001082	NP_001073	P78329	CP4F2_HUMAN			2	186	-			46						Missense_Mutation	SNP	ENST00000221700.6	37	c.136C>G	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282412	0.23392	.	.	ENSG00000186115	ENST00000221700	D	0.97772	-4.53	2.99	0.612	0.17591	.	0.311772	0.23157	U	0.051295	D	0.94823	0.8328	M	0.62723	1.935	0.09310	N	0.999999	B	0.02656	0.0	B	0.13407	0.009	D	0.89186	0.3547	10	0.72032	D	0.01	.	3.539	0.07804	0.1427:0.0:0.6125:0.2449	.	46	P78329	CP4F2_HUMAN	G	46	ENSP00000221700:R46G	ENSP00000221700:R46G	R	-	1	0	CYP4F2	15869286	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.625000	0.05534	0.092000	0.17331	0.479000	0.44913	CGC		0.632	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		9	41	0	0	0	0.001368	0	9	41				
MYO9B	4650	broad.mit.edu	37	19	17265191	17265191	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:17265191G>A	ENST00000594824.1	+	6	1312	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	MYO9B_ENST00000595618.1_Missense_Mutation_p.E389K|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.E389K|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	389	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.E389K(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCAGGCCATGGAGATGGTGGG	0.582																																							uc010eak.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1165-1167)GAG>AAG		myosin IXB isoform 1							71.0	76.0	75.0					19																	17265191		1995	4167	6162	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17265191G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1165G>A	19.37:g.17265191G>A	ENSP00000471367:p.Glu389Lys					MYO9B_uc002nfi.2_Missense_Mutation_p.E389K|MYO9B_uc002nfj.1_Missense_Mutation_p.E389K	p.E389K	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			6	1317	+			389			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1165G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.390849	0.95988	.	.	ENSG00000099331	ENST00000397274	T	0.71103	-0.54	5.08	5.08	0.68730	Myosin head, motor domain (2);	0.000000	0.52532	D	0.000068	T	0.74535	0.3729	L	0.28504	0.86	0.58432	D	0.99999	P;P;P	0.49696	0.774;0.774;0.927	P;P;P	0.58620	0.841;0.841;0.842	T	0.77968	-0.2388	10	0.72032	D	0.01	.	17.4633	0.87625	0.0:0.0:1.0:0.0	.	389;389;395	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	K	389	ENSP00000380444:E389K	ENSP00000380444:E389K	E	+	1	0	MYO9B	17126191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.357000	0.79964	0.563000	0.77884	GAG		0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			13	32	0	0	0	0.001368	0	13	32				
SLC5A5	6528	broad.mit.edu	37	19	17986864	17986864	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:17986864C>T	ENST00000222248.3	+	5	994	c.647C>T	c.(646-648)cCc>cTc	p.P216L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	216					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.P216L(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGGGCGGGCCCCGCCAGGTG	0.602																																					Melanoma(65;1008 1708 7910 46650)	Melanoma(65;1008 1708 7910 46650)	uc002nhr.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(646-648)CCC>CTC		solute carrier family 5 (sodium iodide							256.0	195.0	216.0					19																	17986864		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17986864C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.647C>T	19.37:g.17986864C>T	ENSP00000222248:p.Pro216Leu						p.P216L	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			5	994	+			216			Extracellular (Potential).		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.647C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	8.211	0.800374	0.16397	.	.	ENSG00000105641	ENST00000222248	D	0.86366	-2.11	4.86	3.8	0.43715	.	0.195689	0.44902	D	0.000404	T	0.60805	0.2297	N	0.01257	-0.925	0.19945	N	0.999945	B	0.14012	0.009	B	0.17098	0.017	T	0.54153	-0.8336	10	0.02654	T	1	.	8.0792	0.30735	0.0:0.8129:0.0:0.1871	.	216	Q92911	SC5A5_HUMAN	L	216	ENSP00000222248:P216L	ENSP00000222248:P216L	P	+	2	0	SLC5A5	17847864	0.000000	0.05858	0.056000	0.19401	0.038000	0.13279	0.804000	0.27098	2.428000	0.82296	0.491000	0.48974	CCC		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			21	50	0	0	0	0.00278	0	21	50				
ZNF676	163223	broad.mit.edu	37	19	22363097	22363097	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:22363097C>A	ENST00000397121.2	-	3	1739	c.1422G>T	c.(1420-1422)gaG>gaT	p.E474D		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E474D(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTAAGGTTTCTCTGCAGCAT	0.393																																							uc002nqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1420-1422)GAG>GAT		zinc finger protein 676							110.0	115.0	113.0					19																	22363097		2144	4271	6415	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363097C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1422G>T	19.37:g.22363097C>A	ENSP00000380310:p.Glu474Asp						p.E474D	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1740	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	474					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1422G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	7.375	0.627593	0.14257	.	.	ENSG00000196109	ENST00000397121	T	0.26810	1.71	0.81	0.81	0.18732	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34454	0.0898	L	0.37630	1.12	0.26193	N	0.979555	D	0.58268	0.982	D	0.73708	0.981	T	0.12630	-1.0540	9	0.62326	D	0.03	.	5.8614	0.18749	0.0:0.6632:0.3368:0.0	.	474	Q8N7Q3	ZN676_HUMAN	D	474	ENSP00000380310:E474D	ENSP00000380310:E474D	E	-	3	2	ZNF676	22154937	0.651000	0.27340	0.027000	0.17364	0.027000	0.11550	0.709000	0.25734	0.181000	0.19994	0.184000	0.17185	GAG		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		38	60	1	0	5.43694e-19	0.005524	9.97e-19	38	60				
ZNF536	9745	broad.mit.edu	37	19	31039133	31039133	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:31039133C>G	ENST00000355537.3	+	4	2754	c.2607C>G	c.(2605-2607)caC>caG	p.H869Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	869					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.H869Q(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGGAGATCACTCGGGGCAGG	0.582																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2605-2607)CAC>CAG		zinc finger protein 536							68.0	72.0	71.0					19																	31039133		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039133C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2607C>G	19.37:g.31039133C>G	ENSP00000347730:p.His869Gln					ZNF536_uc010edd.1_Missense_Mutation_p.H869Q	p.H869Q	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2745	+	Esophageal squamous(110;0.0834)		869					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2607C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.205398	0.01568	.	.	ENSG00000198597	ENST00000355537	T	0.07216	3.21	5.71	-3.4	0.04853	.	0.163866	0.53938	D	0.000041	T	0.03695	0.0105	N	0.11560	0.145	0.19575	N	0.999961	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.33214	-0.9877	10	0.49607	T	0.09	-11.8076	9.235	0.37461	0.0:0.2682:0.1087:0.6231	.	869;869	A7E228;O15090	.;ZN536_HUMAN	Q	869	ENSP00000347730:H869Q	ENSP00000347730:H869Q	H	+	3	2	ZNF536	35730973	0.002000	0.14202	0.001000	0.08648	0.028000	0.11728	-0.140000	0.10342	-0.504000	0.06577	-0.245000	0.11935	CAC		0.582	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		39	45	0	0	0	0.005524	0	39	45				
ZNF536	9745	broad.mit.edu	37	19	31039148	31039148	+	Silent	SNP	G	G	C	rs142296958		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:31039148G>C	ENST00000355537.3	+	4	2769	c.2622G>C	c.(2620-2622)acG>acC	p.T874T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	874					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.T874T(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCAGGCCACGGGCATGTCTT	0.557																																							uc002nsu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2620-2622)ACG>ACC		zinc finger protein 536							78.0	81.0	80.0					19																	31039148		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039148G>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2622G>C	19.37:g.31039148G>C						ZNF536_uc010edd.1_Silent_p.T874T	p.T874T	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2760	+	Esophageal squamous(110;0.0834)		874					A2RU18	Silent	SNP	ENST00000355537.3	37	c.2622G>C	CCDS32984.1																																																																																				0.557	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		41	48	0	0	0	0.003214	0	41	48				
TSHZ3	57616	broad.mit.edu	37	19	31767679	31767679	+	Missense_Mutation	SNP	G	G	T	rs369287084		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:31767679G>T	ENST00000240587.4	-	2	3347	c.3020C>A	c.(3019-3021)tCc>tAc	p.S1007Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1007					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S824Y(1)|p.S1007Y(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGACAGTTTGGATAAGTCCCG	0.507																																							uc002nsy.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(3019-3021)TCC>TAC		zinc finger protein 537							140.0	122.0	128.0					19																	31767679		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767679G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.3020C>A	19.37:g.31767679G>T	ENSP00000240587:p.Ser1007Tyr						p.S1007Y	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	3085	-	Esophageal squamous(110;0.226)		1007					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.3020C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396579	0.62177	.	.	ENSG00000121297	ENST00000240587	T	0.13089	2.62	5.84	5.84	0.93424	.	0.054278	0.85682	D	0.000000	T	0.20455	0.0492	L	0.29908	0.895	0.80722	D	1	D	0.55385	0.971	P	0.50440	0.641	T	0.00248	-1.1880	10	0.87932	D	0	-22.9781	20.1434	0.98067	0.0:0.0:1.0:0.0	.	1007	Q63HK5	TSH3_HUMAN	Y	1007	ENSP00000240587:S1007Y	ENSP00000240587:S1007Y	S	-	2	0	TSHZ3	36459519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.760000	0.94817	0.591000	0.81541	TCC		0.507	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		20	29	1	0	1.55795e-14	0.001882	2.68129e-14	20	29				
TSHZ3	57616	broad.mit.edu	37	19	31769600	31769601	+	Nonsense_Mutation	DNP	CG	CG	AT			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:31769600_31769601CG>AT	ENST00000240587.4	-	2	1425_1426	c.1098_1099CG>AT	c.(1096-1101)taCGgc>taATgc	p.366_367YG>*C		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	366					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G184S(2)|p.G367S(2)|p.Y366_G367>*(1)|p.Y183_G184>*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTCTGGTGGCCGTACCGATTAT	0.559																																							uc002nsy.3		NA																	6	Substitution - Missense(4)|Complex - deletion inframe(2)		large_intestine(2)|lung(2)|endometrium(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1096-1101)TACGGC>TAATGC		zinc finger protein 537																																				SO:0001587	stop_gained	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769600_31769601CG>AT	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1098_1099delinsAT	19.37:g.31769600_31769601delinsAT	ENSP00000240587:p.Y366_G367delins*C						p.366_367YG>*C	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1163_1164	-	Esophageal squamous(110;0.226)		366_367					Q9H0G6|Q9P254	Nonsense_Mutation	DNP	ENST00000240587.4	37	c.1098_1099CG>AT	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		65	118	0	0	0	0.004672	0	65	118				
FAM187B	148109	broad.mit.edu	37	19	35719355	35719355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:35719355C>A	ENST00000324675.3	-	1	277	c.229G>T	c.(229-231)Gag>Tag	p.E77*		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	77						integral component of membrane (GO:0016021)		p.E77*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGCTGCCCTCGGGCATTATT	0.507																																							uc002nyk.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(229-231)GAG>TAG		family with sequence similarity 187, member B							57.0	57.0	57.0					19																	35719355		2203	4300	6503	SO:0001587	stop_gained	148109					integral to membrane		g.chr19:35719355C>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.229G>T	19.37:g.35719355C>A	ENSP00000323355:p.Glu77*						p.E77*	NM_152481	NP_689694	Q17R55	F187B_HUMAN			1	274	-			77			Extracellular (Potential).		Q8N7G6	Nonsense_Mutation	SNP	ENST00000324675.3	37	c.229G>T	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137737	0.77775	.	.	ENSG00000177558	ENST00000324675	.	.	.	4.81	1.2	0.21068	.	1.691540	0.03265	N	0.183811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-0.7822	2.7624	0.05311	0.1819:0.5331:0.1762:0.1089	.	.	.	.	X	77	.	ENSP00000323355:E77X	E	-	1	0	FAM187B	40411195	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.121000	0.10643	0.240000	0.21263	0.655000	0.94253	GAG		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		32	36	1	0	1.62565e-12	0.002445	2.7175e-12	32	36				
ZNF570	148268	broad.mit.edu	37	19	37975731	37975731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:37975731C>T	ENST00000330173.1	+	5	1736	c.1207C>T	c.(1207-1209)Caa>Taa	p.Q403*	ZNF570_ENST00000586475.1_Nonsense_Mutation_p.Q459*|ZNF570_ENST00000388801.3_Nonsense_Mutation_p.Q200*	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q403*(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACCTTGCTCAACATCAGAG	0.423																																							uc002ogk.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1207-1209)CAA>TAA		zinc finger protein 570							79.0	80.0	80.0					19																	37975731		2203	4300	6503	SO:0001587	stop_gained	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37975731C>T	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1207C>T	19.37:g.37975731C>T	ENSP00000331540:p.Gln403*					ZNF570_uc010efl.1_Nonsense_Mutation_p.Q459*|ZNF570_uc010xtr.1_Nonsense_Mutation_p.Q200*	p.Q403*	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1736	+			403			C2H2-type 7.		A1L472|B4DMP1	Nonsense_Mutation	SNP	ENST00000330173.1	37	c.1207C>T	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	C	40	8.448970	0.98815	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	.	.	.	4.22	4.22	0.49857	.	0.456008	0.16358	N	0.217940	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.3824	0.55313	0.0:0.8286:0.1714:0.0	.	.	.	.	X	403;200	.	ENSP00000331540:Q403X	Q	+	1	0	ZNF570	42667571	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-1.259000	0.02861	2.340000	0.79590	0.462000	0.41574	CAA		0.423	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		28	40	0	0	0	0.007291	0	28	40				
GGN	199720	broad.mit.edu	37	19	38877550	38877550	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:38877550G>A	ENST00000334928.6	-	3	484	c.352C>T	c.(352-354)Cca>Tca	p.P118S	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000586301.1_5'Flank|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	118	Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.P118S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGGGAACTGGAGTGCCCGCG	0.761																																							uc002oij.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(352-354)CCA>TCA		gametogenetin							3.0	4.0	4.0					19																	38877550		1685	3650	5335	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38877550G>A	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.352C>T	19.37:g.38877550G>A	ENSP00000334940:p.Pro118Ser					GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.P35S	p.P118S	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	487	-	all_cancers(60;3.4e-06)		118			Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.352C>T	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061393	0.07317	.	.	ENSG00000179168	ENST00000334928;ENST00000392116	.	.	.	3.71	-2.91	0.05631	.	0.804955	0.10453	N	0.672808	T	0.21022	0.0506	N	0.17082	0.46	0.09310	N	1	B;B	0.19331	0.035;0.017	B;B	0.17098	0.017;0.005	T	0.19063	-1.0317	9	0.28530	T	0.3	0.0142	5.3609	0.16087	0.214:0.4652:0.3208:0.0	.	35;118	Q86UU5-2;Q86UU5	.;GGN_HUMAN	S	118	.	ENSP00000334940:P118S	P	-	1	0	GGN	43569390	0.009000	0.17119	0.125000	0.21846	0.057000	0.15508	-0.659000	0.05323	-0.483000	0.06772	-0.258000	0.10820	CCA		0.761	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		7	4	0	0	0	0.001984	0	7	4				
SERTAD3	29946	broad.mit.edu	37	19	40947909	40947909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:40947909G>A	ENST00000322354.3	-	2	575	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	SERTAD3_ENST00000392028.4_Nonsense_Mutation_p.Q27*|SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	27	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q27*(1)		kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGTAGCTCTGAAGGCCTGCT	0.592																																							uc002onu.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(79-81)CAG>TAG		RPA-binding trans-activator							37.0	32.0	34.0					19																	40947909		2203	4300	6503	SO:0001587	stop_gained	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947909G>A	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.79C>T	19.37:g.40947909G>A	ENSP00000325414:p.Gln27*					SERTAD3_uc002onv.3_Nonsense_Mutation_p.Q27*	p.Q27*	NM_013368	NP_037500	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	357	-			27			SERTA.		B3KQB3|Q96CQ2	Nonsense_Mutation	SNP	ENST00000322354.3	37	c.79C>T	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690988	0.68271	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	4.21	0.52	0.17040	.	0.324095	0.24085	N	0.041686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-3.2324	7.5951	0.28044	0.0:0.3399:0.4852:0.1749	.	.	.	.	X	27	.	ENSP00000325414:Q27X	Q	-	1	0	SERTAD3	45639749	0.698000	0.27777	0.060000	0.19600	0.477000	0.33069	1.629000	0.37071	0.120000	0.18254	0.650000	0.86243	CAG		0.592	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		6	9	0	0	0	0.00308	0	6	9				
CYP2B6	1555	broad.mit.edu	37	19	41512853	41512853	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:41512853C>T	ENST00000324071.4	+	4	535	c.528C>T	c.(526-528)gcC>gcT	p.A176A	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	176					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.A176A(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCATTACCGCCAACATCATCT	0.498																																							uc002opr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(526-528)GCC>GCT		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						102.0	89.0	93.0					19																	41512853		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512853C>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.528C>T	19.37:g.41512853C>T						CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.A176A	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	535	+			176					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.528C>T	CCDS12570.1																																																																																				0.498	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		14	21	0	0	0	0.00245	0	14	21				
CYP2B6	1555	broad.mit.edu	37	19	41522588	41522588	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:41522588G>T	ENST00000324071.4	+	9	1339	c.1332G>T	c.(1330-1332)gcG>gcT	p.A444A	CYP2B6_ENST00000330446.5_Silent_p.A244A|CYP2B6_ENST00000593831.1_Silent_p.A208A	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	444					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.A444A(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TCGCCCGTGCGGAATTGTTCC	0.582																																							uc002opr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1330-1332)GCG>GCT		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						119.0	86.0	97.0					19																	41522588		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41522588G>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1332G>T	19.37:g.41522588G>T						CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.A244A	p.A444A	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		9	1339	+			444					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.1332G>T	CCDS12570.1																																																																																				0.582	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		16	15	1	0	5.3912e-06	0.006122	7.08447e-06	16	15				
PSG11	5680	broad.mit.edu	37	19	43523025	43523025	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:43523025G>C	ENST00000401740.1	-	3	709	c.606C>G	c.(604-606)ctC>ctG	p.L202L	PSG11_ENST00000403486.1_Silent_p.L80L|PSG11_ENST00000306322.7_Silent_p.L80L|PSG11_ENST00000320078.7_Silent_p.L202L|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	202	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L202L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAAATAGAAAGAGGGTCCTGT	0.507																																							uc002ovm.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(604-606)CTC>CTG		pregnancy specific beta-1-glycoprotein 11							250.0	261.0	257.0					19																	43523025		2200	4298	6498	SO:0001819	synonymous_variant	5680				female pregnancy	extracellular region		g.chr19:43523025G>C	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.606C>G	19.37:g.43523025G>C						PSG11_uc002ouw.2_Silent_p.L208L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.L208L|PSG11_uc002ovn.1_Silent_p.L208L|PSG11_uc002ovo.1_Silent_p.L80L|PSG11_uc002ovp.1_Silent_p.L80L	p.L202L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			3	713	-		Prostate(69;0.00682)	202			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	c.606C>G	CCDS12614.2																																																																																				0.507	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		129	172	0	0	0	0.00361	0	129	172				
PSG9	5678	broad.mit.edu	37	19	43762581	43762581	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:43762581G>A	ENST00000270077.3	-	5	1112	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	PSG9_ENST00000291752.5_Missense_Mutation_p.P153L|PSG9_ENST00000244293.7_Missense_Mutation_p.P246L|PSG9_ENST00000418820.2_Missense_Mutation_p.P246L|PSG9_ENST00000443718.3_Missense_Mutation_p.P246L|PSG9_ENST00000593948.1_Missense_Mutation_p.P246L|PSG9_ENST00000596730.1_Missense_Mutation_p.P153L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	339	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P339L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTGAATGAAGGGTAAATTCT	0.468																																							uc002owd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1015-1017)CCT>CTT		pregnancy specific beta-1-glycoprotein 9							117.0	148.0	138.0					19																	43762581		2138	4275	6413	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43762581G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1016C>T	19.37:g.43762581G>A	ENSP00000270077:p.Pro339Leu					PSG9_uc002owe.3_Missense_Mutation_p.P246L|PSG9_uc010xwm.1_Missense_Mutation_p.P246L|PSG9_uc002owf.3_Missense_Mutation_p.P153L|PSG9_uc002owg.2_Missense_Mutation_p.P246L|PSG9_uc002owh.2_Missense_Mutation_p.P153L	p.P339L	NM_002784	NP_002775	Q00887	PSG9_HUMAN			5	1115	-		Prostate(69;0.00682)	339			Ig-like C2-type 3.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.1016C>T	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	8.159	0.789109	0.16258	.	.	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	0.725	0.725	0.18242	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38612	0.1047	M	0.90922	3.16	0.09310	N	1	B;B;P;B;D;D	0.76494	0.381;0.212;0.58;0.028;0.999;0.983	B;B;P;B;D;D	0.87578	0.375;0.269;0.476;0.049;0.998;0.977	T	0.08743	-1.0707	9	0.62326	D	0.03	.	4.8022	0.13303	0.0:0.0:1.0:0.0	.	246;195;246;153;339;339	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;.;PSG9_HUMAN	L	339;153;246;300;246	ENSP00000270077:P339L;ENSP00000291752:P153L;ENSP00000396753:P246L;ENSP00000244293:P246L	ENSP00000244293:P246L	P	-	2	0	PSG9	48454421	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.235000	0.17948	0.688000	0.31529	0.194000	0.17425	CCT		0.468	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		59	44	0	0	0	0.00361	0	59	44				
ZNF230	7773	broad.mit.edu	37	19	44515399	44515399	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:44515399G>T	ENST00000429154.2	+	5	1436	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R403L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGCTTTAGCCGGGCTTCAAGT	0.438																																					GBM(175;914 2069 22996 47111 52600)	GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)CGG>CTG		zinc finger protein 230							78.0	83.0	81.0					19																	44515399		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515399G>T	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1208G>T	19.37:g.44515399G>T	ENSP00000409318:p.Arg403Leu						p.R403L	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	1459	+		Prostate(69;0.0352)	403			C2H2-type 9.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1208G>T	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964352	0.34659	.	.	ENSG00000159882	ENST00000429154	T	0.19669	2.13	2.33	-3.3	0.05003	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10852	0.0265	L	0.39692	1.235	0.09310	N	1	P	0.44816	0.844	B	0.36567	0.228	T	0.24476	-1.0159	9	0.20519	T	0.43	.	3.1213	0.06392	0.5284:0.0:0.2667:0.2049	.	403	Q9UIE0	ZN230_HUMAN	L	403	ENSP00000409318:R403L	ENSP00000409318:R403L	R	+	2	0	ZNF230	49207239	0.000000	0.05858	0.001000	0.08648	0.875000	0.50365	-2.566000	0.00917	-0.513000	0.06496	0.205000	0.17691	CGG		0.438	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			40	43	1	0	1.62957e-23	0.00874	3.03797e-23	40	43				
CEACAM19	56971	broad.mit.edu	37	19	45183600	45183600	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:45183600G>T	ENST00000403660.3	+	5	910	c.700G>T	c.(700-702)Gat>Tat	p.D234Y	CEACAM19_ENST00000358777.4_Missense_Mutation_p.D234Y|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	234						integral component of membrane (GO:0016021)		p.D234Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCCTGCTCATGATGCTGGTAA	0.557																																							uc002ozo.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(700-702)GAT>TAT		carcinoembryonic antigen-related cell adhesion							128.0	122.0	124.0					19																	45183600		2203	4300	6503	SO:0001583	missense	56971					integral to membrane		g.chr19:45183600G>T	AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.700G>T	19.37:g.45183600G>T	ENSP00000384887:p.Asp234Tyr					CEACAM19_uc002ozp.3_Missense_Mutation_p.D234Y	p.D234Y	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN			5	1180	+	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)	234			Cytoplasmic (Potential).		Q5XJ15|Q7Z693	Missense_Mutation	SNP	ENST00000403660.3	37	c.700G>T	CCDS12641.1	.	.	.	.	.	.	.	.	.	.	G	5.648	0.304217	0.10678	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.02525	4.26;4.26	2.51	-1.83	0.07833	.	2.001140	0.03139	U	0.166364	T	0.02083	0.0065	N	0.14661	0.345	0.09310	N	1	B;B	0.26775	0.159;0.159	B;B	0.21360	0.034;0.034	T	0.43925	-0.9361	10	0.62326	D	0.03	0.1404	3.5927	0.07994	0.2716:0.2394:0.489:0.0	.	234;234	Q5XJ15;Q7Z692	.;CEA19_HUMAN	Y	234	ENSP00000351627:D234Y;ENSP00000384887:D234Y	ENSP00000351627:D234Y	D	+	1	0	CEACAM19	49875440	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.428000	0.06991	-0.365000	0.08076	-0.390000	0.06520	GAT		0.557	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323022.1	NM_020219		20	32	1	0	5.26018e-13	0.001882	8.8439e-13	20	32				
EXOC3L2	90332	broad.mit.edu	37	19	45716578	45716578	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:45716578G>T	ENST00000252482.3	-	9	1006	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000413988.1_Missense_Mutation_p.L327M			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	327					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.L327M(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GTGTTGCGCAGGCCACGGATG	0.657																																							uc002pay.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(979-981)CTG>ATG		exocyst complex component 3-like 2							39.0	41.0	40.0					19																	45716578		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45716578G>T	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.979C>A	19.37:g.45716578G>T	ENSP00000252482:p.Leu327Met						p.L327M	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	10	1020	-		all_neural(266;0.224)|Ovarian(192;0.231)	327					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.979C>A	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543464	0.27563	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06768	3.26;3.26	4.53	3.49	0.39957	.	0.199193	0.42172	N	0.000754	T	0.07954	0.0199	L	0.43923	1.385	0.09310	N	0.99999	P	0.42296	0.775	B	0.40565	0.333	T	0.22277	-1.0221	10	0.32370	T	0.25	.	8.3953	0.32553	0.1109:0.0:0.8891:0.0	.	327	Q2M3D2	EX3L2_HUMAN	M	327	ENSP00000252482:L327M;ENSP00000400713:L327M	ENSP00000252482:L327M	L	-	1	2	EXOC3L2	50408418	1.000000	0.71417	0.016000	0.15963	0.528000	0.34623	3.610000	0.54125	0.899000	0.36444	0.455000	0.32223	CTG		0.657	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		12	29	1	0	3.27435e-08	0.00245	4.82536e-08	12	29				
ERCC2	2068	broad.mit.edu	37	19	45867586	45867586	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:45867586T>A	ENST00000391945.4	-	9	799	c.722A>T	c.(721-723)aAc>aTc	p.N241I	ERCC2_ENST00000391940.4_Missense_Mutation_p.N217I|ERCC2_ENST00000221481.6_Missense_Mutation_p.T122S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N217I|ERCC2_ENST00000391944.3_Missense_Mutation_p.N163I	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	241	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.N241I(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGCAGACGTTGTCTGGAGA	0.672			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc002pbj.2		NA	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(1)	3						c.(721-723)AAC>ATC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							36.0	40.0	39.0					19																	45867586		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867586T>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.722A>T	19.37:g.45867586T>A	ENSP00000375809:p.Asn241Ile					ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N163I|ERCC2_uc002pbk.2_Missense_Mutation_p.N217I|ERCC2_uc002pbl.3_Missense_Mutation_p.N217I|ERCC2_uc010xxj.1_RNA	p.N241I	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	9	769	-		Ovarian(192;0.0728)|all_neural(266;0.112)	241			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.722A>T	CCDS33049.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.688|7.688	0.690485|0.690485	0.15039|0.15039	.|.	.|.	ENSG00000104884|ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940|ENST00000221481	T;T;T|T	0.76709|0.69561	-0.66;-1.04;-0.66|-0.41	4.72|4.72	4.72|4.72	0.59763|0.59763	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79885|0.79885	0.4523|0.4523	H|H	0.95365|0.95365	3.66|3.66	0.44462|0.44462	D|D	0.997398|0.997398	D;D;D|.	0.71674|.	0.996;0.998;0.962|.	D;D;D|.	0.83275|.	0.996;0.982;0.958|.	T|T	0.81488|0.81488	-0.0910|-0.0910	10|7	0.87932|0.02654	D|T	0|1	-33.3694|-33.3694	12.4641|12.4641	0.55749|0.55749	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	163;217;241|.	E7EVE9;Q7KZU6;P18074|.	.;.;ERCC2_HUMAN|.	I|S	191;217;241;163;217|122	ENSP00000375809:N241I;ENSP00000375808:N163I;ENSP00000375804:N217I|ENSP00000221481:T122S	ENSP00000375804:N217I|ENSP00000221481:T122S	N|T	-|-	2|1	0|0	ERCC2|ERCC2	50559426|50559426	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.806000|0.806000	0.45545|0.45545	5.305000|5.305000	0.65750|0.65750	2.102000|2.102000	0.63906|0.63906	0.459000|0.459000	0.35465|0.35465	AAC|ACG		0.672	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		21	15	0	0	0	0.002299	0	21	15				
PNMAL2	57469	broad.mit.edu	37	19	46997168	46997168	+	Intron	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:46997168C>T	ENST00000377655.2	-	1	734				PNMAL2_ENST00000599531.1_Missense_Mutation_p.E519K|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_5'Flank			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCCTCGCTCTCGGTGTCCTCC	0.726																																							uc002pes.2		NA																	0				central_nervous_system(1)	1						c.(1555-1557)GAG>AAG		PNMA-like 2							24.0	25.0	24.0					19																	46997168		2018	4180	6198	SO:0001627	intron_variant	57469							g.chr19:46997168C>T	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+820G>A	19.37:g.46997168C>T						uc002peu.1_5'Flank	p.E519K	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	2002	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	519					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.1555G>A																																																																																					0.726	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		19	21	0	0	0	0.010504	0	19	21				
ARHGAP35	2909	broad.mit.edu	37	19	47503629	47503629	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:47503629A>G	ENST00000404338.3	+	6	4184	c.4184A>G	c.(4183-4185)aAc>aGc	p.N1395S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1395	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.N1395S(2)									ACCAGCGAGAACCTCTCCATC	0.562																																							uc010ekv.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(4183-4185)AAC>AGC		glucocorticoid receptor DNA binding factor 1							247.0	258.0	254.0					19																	47503629		2166	4264	6430	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503629A>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4184A>G	19.37:g.47503629A>G	ENSP00000385720:p.Asn1395Ser						p.N1395S	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	6	4184	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1395			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.4184A>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691886	0.88735	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.30182	1.54	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65113	-0.6247	10	0.56958	D	0.05	-42.4558	13.9521	0.64123	1.0:0.0:0.0:0.0	.	1395	Q9NRY4-2	.	S	1395	ENSP00000385720:N1395S	ENSP00000324820:N1395S	N	+	2	0	ARHGAP35	52195469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.001000	0.93568	2.135000	0.66039	0.528000	0.53228	AAC		0.562	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		64	71	0	0	0	0.00361	0	64	71				
SLC8A2	6543	broad.mit.edu	37	19	47969343	47969343	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:47969343C>G	ENST00000236877.6	-	2	713	c.318G>C	c.(316-318)gaG>gaC	p.E106D	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	106					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.E106D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGATGGTGATCTCCTTCTCTT	0.572																																							uc002pgx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(316-318)GAG>GAC		solute carrier family 8 member 2 precursor							144.0	90.0	109.0					19																	47969343		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969343C>G	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.318G>C	19.37:g.47969343C>G	ENSP00000236877:p.Glu106Asp					SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E106D	p.E106D	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	596	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	106			Cytoplasmic (Potential).		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.318G>C	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885235	0.51908	.	.	ENSG00000118160	ENST00000236877	T	0.35421	1.31	4.25	2.05	0.26809	Sodium/calcium exchanger membrane region (1);	0.059485	0.64402	D	0.000004	T	0.43787	0.1263	L	0.43554	1.36	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.27191	-1.0081	10	0.48119	T	0.1	.	7.5469	0.27772	0.0:0.7171:0.0:0.2829	.	106	Q9UPR5	NAC2_HUMAN	D	106	ENSP00000236877:E106D	ENSP00000236877:E106D	E	-	3	2	SLC8A2	52661155	0.972000	0.33761	1.000000	0.80357	0.893000	0.52053	0.215000	0.17562	1.012000	0.39366	0.462000	0.41574	GAG		0.572	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			18	37	0	0	0	0.008871	0	18	37				
LMTK3	114783	broad.mit.edu	37	19	49013301	49013301	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:49013301C>T	ENST00000600059.1	-	3	567	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	LMTK3_ENST00000270238.3_Missense_Mutation_p.A143T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	114					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A143T(1)|p.A129T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCTGCGGGGCAGGCATTGGC	0.622																																							uc002pjk.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(427-429)GCC>ACC		lemur tyrosine kinase 3							34.0	39.0	37.0					19																	49013301		2111	4230	6341	SO:0001583	missense	114783							g.chr19:49013301C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.340G>A	19.37:g.49013301C>T	ENSP00000472020:p.Ala114Thr						p.A143T	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	4	427	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.427G>A		.	.	.	.	.	.	.	.	.	.	c	15.63	2.891351	0.52014	.	.	ENSG00000142235	ENST00000270238	T	0.77098	-1.07	4.74	4.74	0.60224	.	0.953300	0.08651	N	0.914067	T	0.70245	0.3202	N	0.08118	0	0.29553	N	0.851193	D	0.55172	0.97	P	0.54346	0.749	T	0.61426	-0.7065	10	0.32370	T	0.25	.	9.3383	0.38065	0.0:0.9005:0.0:0.0995	.	114	Q96Q04	LMTK3_HUMAN	T	143	ENSP00000270238:A143T	ENSP00000270238:A143T	A	-	1	0	LMTK3	53705113	0.996000	0.38824	0.999000	0.59377	0.740000	0.42216	1.245000	0.32790	2.355000	0.79922	0.436000	0.28706	GCC		0.622	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		6	10	0	0	0	0.001984	0	6	10				
HRC	3270	broad.mit.edu	37	19	49657763	49657763	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:49657763T>C	ENST00000252825.4	-	1	918	c.732A>G	c.(730-732)gaA>gaG	p.E244E	HRC_ENST00000595625.1_Silent_p.E244E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	244	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.E244E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cgtcatcttcttcatGGCCTT	0.522																																					Melanoma(37;75 1097 24567 25669 30645)	Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(730-732)GAA>GAG		histidine rich calcium binding protein							118.0	85.0	96.0					19																	49657763		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657763T>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.732A>G	19.37:g.49657763T>C							p.E244E	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	919	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	244			4 X tandem repeats, acidic.|1-2.|6 X approximate tandem repeats.		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.732A>G	CCDS12759.1																																																																																				0.522	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		17	16	0	0	0	0.004007	0	17	16				
GPR32	2854	broad.mit.edu	37	19	51273984	51273984	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:51273984C>G	ENST00000270590.4	+	1	264	c.127C>G	c.(127-129)Cgc>Ggc	p.R43G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	43					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R43G(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGGGTCCCTCCGCCCACTGAC	0.592																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(127-129)CGC>GGC		G protein-coupled receptor 32							169.0	133.0	145.0					19																	51273984		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51273984C>G	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.127C>G	19.37:g.51273984C>G	ENSP00000270590:p.Arg43Gly						p.R43G	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	127	+		all_neural(266;0.131)	43			Extracellular (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.127C>G	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870007	0.33069	.	.	ENSG00000142511	ENST00000270590	T	0.38887	1.11	2.73	0.791	0.18619	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	P	0.48503	0.911	B	0.38921	0.285	T	0.11203	-1.0597	9	0.09590	T	0.72	.	6.3429	0.21332	0.0:0.7335:0.0:0.2665	.	43	O75388	GPR32_HUMAN	G	43	ENSP00000270590:R43G	ENSP00000270590:R43G	R	+	1	0	GPR32	55965796	0.002000	0.14202	0.013000	0.15412	0.270000	0.26580	1.497000	0.35649	0.067000	0.16545	0.313000	0.20887	CGC		0.592	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			19	14	0	0	0	0.007413	0	19	14				
KLK7	5650	broad.mit.edu	37	19	51483572	51483572	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:51483572G>A	ENST00000391807.1	-	4	494	c.393C>T	c.(391-393)gtC>gtT	p.V131V	KLK7_ENST00000595820.1_Silent_p.V131V|KLK7_ENST00000597707.1_Silent_p.V59V|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595638.1_5'Flank|KLK7_ENST00000336317.4_Silent_p.V18V	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	131	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V131V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGGGCAGCCTGACTTTCTTCA	0.602																																							uc002puo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(391-393)GTC>GTT		stratum corneum chymotryptic enzyme							113.0	89.0	97.0					19																	51483572		2203	4300	6503	SO:0001819	synonymous_variant	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51483572G>A	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.393C>T	19.37:g.51483572G>A						KLK7_uc002pup.2_Silent_p.V131V|KLK7_uc010yco.1_Silent_p.V5V|KLK7_uc010eok.2_Silent_p.V59V	p.V131V	NM_139277	NP_644806	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	4	495	-		all_neural(266;0.026)	131			Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	37	c.393C>T	CCDS12812.1																																																																																				0.602	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		15	18	0	0	0	0.004007	0	15	18				
KLK9	284366	broad.mit.edu	37	19	51507026	51507026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:51507026G>T	ENST00000594211.1	-	4	537	c.537C>A	c.(535-537)taC>taA	p.Y179*	KLK8_ENST00000320838.5_5'Flank|KLK8_ENST00000291726.7_5'Flank|KLK9_ENST00000376832.4_Nonsense_Mutation_p.Y179*|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_5'Flank|KLK8_ENST00000593490.1_5'Flank|KLK8_ENST00000391806.2_5'Flank|KLK9_ENST00000250366.6_Nonsense_Mutation_p.Y179*|KLK8_ENST00000600767.1_5'Flank			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.Y179*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGTGTCCAGGGTATGCCCAGT	0.572																																							uc002pux.1		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(535-537)TAC>TAA		kallikrein-related peptidase 9 precursor							122.0	86.0	98.0					19																	51507026		2203	4300	6503	SO:0001587	stop_gained	284366				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51507026G>T	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"""Kallikreins"""	6370	protein-coding gene	gene with protein product		605504	"""kallikrein 9"""			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.537C>A	19.37:g.51507026G>T	ENSP00000469417:p.Tyr179*					KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Nonsense_Mutation_p.Y150*|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK9_uc002puv.1_RNA	p.Y179*	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	4	624	-		all_neural(266;0.0652)	179			Peptidase S1.		Q6QA55	Nonsense_Mutation	SNP	ENST00000594211.1	37	c.537C>A	CCDS12816.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448728	0.43531	.	.	ENSG00000213022	ENST00000376832;ENST00000250366	.	.	.	4.68	-1.57	0.08506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1579	0.54087	0.1481:0.0:0.8519:0.0	.	.	.	.	X	179	.	ENSP00000250366:Y179X	Y	-	3	2	KLK9	56198838	1.000000	0.71417	0.567000	0.28434	0.276000	0.26787	0.901000	0.28445	-0.260000	0.09418	-0.367000	0.07326	TAC		0.572	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315		26	39	1	0	9.86323e-18	0.003954	1.77954e-17	26	39				
ZNF600	162966	broad.mit.edu	37	19	53268921	53268921	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:53268921A>G	ENST00000338230.3	-	3	2355	c.2088T>C	c.(2086-2088)tgT>tgC	p.C696C		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	696					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C696C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CACACTCATTACACTTGTAAG	0.403																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2086-2088)TGT>TGC		zinc finger protein 600							110.0	101.0	104.0					19																	53268921		2203	4300	6503	SO:0001819	synonymous_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53268921A>G	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.2088T>C	19.37:g.53268921A>G							p.C696C	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	2374	-			696			C2H2-type 20.		Q6MZR0	Silent	SNP	ENST00000338230.3	37	c.2088T>C	CCDS12856.1																																																																																				0.403	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		43	48	0	0	0	0.00361	0	43	48				
PRKCG	5582	broad.mit.edu	37	19	54403579	54403579	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:54403579G>A	ENST00000263431.3	+	12	1655		c.e12+1		PRKCG_ENST00000540413.1_Splice_Site|PRKCG_ENST00000542049.1_Splice_Site	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.?(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCCATGCAGCGTGAGTCTCGG	0.597																																							uc002qcq.1		NA																	1	Unknown(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.e12+1		protein kinase C, gamma							67.0	65.0	66.0					19																	54403579		2203	4300	6503	SO:0001630	splice_region_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403579G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1373+1G>A	19.37:g.54403579G>A						PRKCG_uc010yeg.1_Splice_Site_p.A458_splice|PRKCG_uc010yeh.1_Splice_Site_p.A345_splice	p.A458_splice	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	12	1655	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)							B7Z8Q0	Splice_Site	SNP	ENST00000263431.3	37	c.1373_splice	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839540	0.71488	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2313	0.59945	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCG	59095391	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.029000	0.93718	2.228000	0.72767	0.561000	0.74099	.		0.597	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	Intron	15	28	0	0	0	0.00245	0	15	28				
NLRP7	199713	broad.mit.edu	37	19	55450962	55450962	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:55450962G>T	ENST00000590030.1	-	3	1265	c.1225C>A	c.(1225-1227)Cgg>Agg	p.R409R	NLRP7_ENST00000328092.5_Silent_p.R409R|NLRP7_ENST00000588756.1_Silent_p.R409R|NLRP7_ENST00000592784.1_Silent_p.R409R|NLRP7_ENST00000446217.1_Silent_p.R437R|NLRP7_ENST00000448121.2_Silent_p.R409R|NLRP7_ENST00000340844.2_Silent_p.R409R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	409	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.R409R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCGCGCCCCGCAGCTGTGCG	0.711																																							uc002qih.3		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1225-1227)CGG>AGG		NACHT, leucine rich repeat and PYD containing 7							11.0	10.0	10.0					19																	55450962		1930	3905	5835	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450962G>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1225C>A	19.37:g.55450962G>T						NLRP7_uc002qig.3_Silent_p.R409R|NLRP7_uc002qii.3_Silent_p.R409R|NLRP7_uc010esk.2_Silent_p.R409R|NLRP7_uc010esl.2_Silent_p.R437R	p.R409R	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1301	-			409			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1225C>A	CCDS33109.1																																																																																				0.711	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		14	13	1	0	8.34094e-07	0.008871	1.14354e-06	14	13				
NLRP9	338321	broad.mit.edu	37	19	56244283	56244283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:56244283G>T	ENST00000332836.2	-	2	941	c.914C>A	c.(913-915)tCg>tAg	p.S305*		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	305	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S305*(1)|p.S305L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGAGAAATACGACTTCTTTTC	0.383																																							uc002qly.2		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	skin(4)|ovary(2)|breast(1)	7						c.(913-915)TCG>TAG		NLR family, pyrin domain containing 9							59.0	58.0	58.0					19																	56244283		2203	4300	6503	SO:0001587	stop_gained	338321					cytoplasm	ATP binding	g.chr19:56244283G>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.914C>A	19.37:g.56244283G>T	ENSP00000331857:p.Ser305*						p.S305*	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	942	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	305			NACHT.		B2RN12|Q86W27	Nonsense_Mutation	SNP	ENST00000332836.2	37	c.914C>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529080	0.44969	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	.	.	.	2.46	-4.92	0.03075	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	4.4722	0.11717	0.1987:0.0:0.2205:0.5808	.	.	.	.	X	305	.	ENSP00000331857:S305X	S	-	2	0	NLRP9	60936095	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.250000	0.18235	-1.403000	0.02053	-1.385000	0.01166	TCG		0.383	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		25	43	1	0	8.24728e-16	0.004656	1.46083e-15	25	43				
NLRP8	126205	broad.mit.edu	37	19	56466489	56466489	+	Silent	SNP	G	G	T	rs149180489		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:56466489G>T	ENST00000291971.3	+	3	1136	c.1065G>T	c.(1063-1065)ccG>ccT	p.P355P	NLRP8_ENST00000590542.1_Silent_p.P355P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	355	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.P355P(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAACCCTTCCGGGGTTTAATA	0.453																																							uc002qmh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1063-1065)CCG>CCT		NLR family, pyrin domain containing 8							76.0	76.0	76.0					19																	56466489		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466489G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1065G>T	19.37:g.56466489G>T						NLRP8_uc010etg.2_Silent_p.P355P	p.P355P	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1136	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	355			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.1065G>T	CCDS12937.1																																																																																				0.453	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		31	51	1	0	2.2171e-23	0.009535	4.12801e-23	31	51				
PEG3	5178	broad.mit.edu	37	19	57335796	57335796	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:57335796C>A	ENST00000326441.9	-	4	591	c.228G>T	c.(226-228)caG>caT	p.Q76H	PEG3_ENST00000598410.1_Splice_Site|PEG3_ENST00000593695.1_Splice_Site|ZIM2_ENST00000221722.5_Splice_Site|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593711.1_Splice_Site|ZIM2_ENST00000601070.1_Splice_Site|PEG3_ENST00000594706.1_Splice_Site|PEG3_ENST00000423103.2_Missense_Mutation_p.Q76H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	76	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q76H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGGTCTCCGGCTGCAACCAAT	0.507																																							uc002qnu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(226-228)CAG>CAT		paternally expressed 3 isoform 1							90.0	89.0	89.0					19																	57335796		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335796C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.228G>T	19.37:g.57335796C>A	ENSP00000326581:p.Gln76His					ZIM2_uc010ygq.1_Splice_Site|ZIM2_uc010ygr.1_Splice_Site|ZIM2_uc002qnr.2_Splice_Site|ZIM2_uc002qnq.2_Splice_Site|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Splice_Site|PEG3_uc002qnt.2_Missense_Mutation_p.Q76H|PEG3_uc002qnv.2_Missense_Mutation_p.Q76H|PEG3_uc002qnw.2_Splice_Site|PEG3_uc002qnx.2_Splice_Site|PEG3_uc010etr.2_Missense_Mutation_p.Q76H	p.Q76H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	579	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	76			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.228G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470453	0.63625	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.04917	3.53;3.53	5.04	5.04	0.67666	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.39020	N	0.001498	T	0.23886	0.0578	M	0.69823	2.125	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03175	-1.1064	9	0.72032	D	0.01	-24.1786	14.6138	0.68534	0.0:1.0:0.0:0.0	.	76;9	Q9GZU2;Q96Q96	PEG3_HUMAN;.	H	76	ENSP00000326581:Q76H;ENSP00000403051:Q76H	ENSP00000292074:Q76H	Q	-	3	2	ZIM2	62027608	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.455000	0.44988	2.734000	0.93682	0.650000	0.86243	CAG		0.507	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			42	52	1	0	2.00842e-17	0.002522	3.61466e-17	42	52				
USP29	57663	broad.mit.edu	37	19	57640629	57640629	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:57640629A>T	ENST00000254181.4	+	4	1040	c.586A>T	c.(586-588)Aag>Tag	p.K196*	USP29_ENST00000598197.1_Nonsense_Mutation_p.K196*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	196					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.K196E(1)|p.K196*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAGAAATATAAGACAGATTC	0.363																																							uc002qny.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(586-588)AAG>TAG		ubiquitin specific peptidase 29							82.0	87.0	86.0					19																	57640629		2203	4300	6503	SO:0001587	stop_gained	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640629A>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.586A>T	19.37:g.57640629A>T	ENSP00000254181:p.Lys196*						p.K196*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	942	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	196						Nonsense_Mutation	SNP	ENST00000254181.4	37	c.586A>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	36	5.740581	0.96873	.	.	ENSG00000131864	ENST00000254181	.	.	.	2.79	1.75	0.24633	.	0.721487	0.11418	U	0.566105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4144	7.4993	0.27509	0.7811:0.2189:0.0:0.0	.	.	.	.	X	196	.	ENSP00000254181:K196X	K	+	1	0	USP29	62332441	0.010000	0.17322	0.002000	0.10522	0.005000	0.04900	0.637000	0.24659	0.438000	0.26450	0.482000	0.46254	AAG		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			44	30	0	0	0	0.00361	0	44	30				
ZNF773	374928	broad.mit.edu	37	19	58018006	58018006	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:58018006G>A	ENST00000282292.4	+	4	683	c.543G>A	c.(541-543)agG>agA	p.R181R	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Silent_p.R180R	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R181R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CCAAAAGTAGGGAGGCCTTTC	0.478																																							uc002qox.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(541-543)AGG>AGA		zinc finger protein 773							45.0	46.0	46.0					19																	58018006		2203	4300	6503	SO:0001819	synonymous_variant	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018006G>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.543G>A	19.37:g.58018006G>A						ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Silent_p.R180R|ZNF773_uc002qoz.2_Intron	p.R181R	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	683	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	181					Q96DL8	Silent	SNP	ENST00000282292.4	37	c.543G>A	CCDS33134.1																																																																																				0.478	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		14	17	0	0	0	0.00245	0	14	17				
ZNF416	55659	broad.mit.edu	37	19	58087211	58087211	+	Missense_Mutation	SNP	C	C	G	rs570790847		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:58087211C>G	ENST00000196489.3	-	3	385	c.163G>C	c.(163-165)Gat>Cat	p.D55H		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D55N(1)|p.D55H(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AGCATCACATCGCGGTACAGG	0.547																																							uc002qpf.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(163-165)GAT>CAT		zinc finger protein 416							195.0	172.0	180.0					19																	58087211		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58087211C>G	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.163G>C	19.37:g.58087211C>G	ENSP00000196489:p.Asp55His					ZNF547_uc002qpm.3_Intron	p.D55H	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	334	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	55			KRAB.		Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.163G>C	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635626	0.47049	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.02837	4.14	3.66	-1.36	0.09085	Krueppel-associated box (4);	.	.	.	.	T	0.07503	0.0189	M	0.93106	3.38	0.09310	N	1	B	0.26775	0.159	B	0.30716	0.119	T	0.18903	-1.0322	9	0.66056	D	0.02	.	5.9177	0.19063	0.0:0.3351:0.4683:0.1966	.	55	Q9BWM5	ZN416_HUMAN	H	55;41;35	ENSP00000196489:D55H	ENSP00000196489:D55H	D	-	1	0	ZNF416	62779023	0.000000	0.05858	0.000000	0.03702	0.964000	0.63967	-0.773000	0.04689	-0.237000	0.09739	0.655000	0.94253	GAT		0.547	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		29	49	0	0	0	0.00632	0	29	49				
MYT1L	23040	broad.mit.edu	37	2	1926489	1926489	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:1926489G>T	ENST00000399161.2	-	10	1799	c.1052C>A	c.(1051-1053)cCg>cAg	p.P351Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.P351Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	351					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P351Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTCTGCTGCGGATTCCTCTC	0.572																																							uc002qxe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(1051-1053)CCG>CAG		myelin transcription factor 1-like							48.0	53.0	52.0					2																	1926489		2124	4238	6362	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926489G>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1052C>A	2.37:g.1926489G>T	ENSP00000382114:p.Pro351Gln					MYT1L_uc002qxd.2_Missense_Mutation_p.P351Q|MYT1L_uc010ewl.1_RNA	p.P351Q	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1879	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	351					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1052C>A		.	.	.	.	.	.	.	.	.	.	G	0.007	-2.011294	0.00422	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.39406	1.08;1.08	5.75	-1.27	0.09347	.	0.625852	0.15885	N	0.239860	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.16512	-1.0400	10	0.10636	T	0.68	-15.6043	17.3406	0.87294	0.0:0.0:0.6207:0.3793	.	351;351	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	351;299;351	ENSP00000382114:P351Q;ENSP00000396103:P351Q	ENSP00000295067:P299Q	P	-	2	0	MYT1L	1905496	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	1.107000	0.31110	-0.459000	0.07013	-0.274000	0.10170	CCG		0.572	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		6	27	1	0	3.59834e-05	0.001168	4.49329e-05	6	27				
RSAD2	91543	broad.mit.edu	37	2	7030450	7030450	+	Missense_Mutation	SNP	C	C	A	rs139075974	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:7030450C>A	ENST00000382040.3	+	4	1018	c.882C>A	c.(880-882)aaC>aaA	p.N294K	RSAD2_ENST00000541728.1_Missense_Mutation_p.N187K	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.N294K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAATCTAACCAGAAGGTTG	0.398																																							uc002qyp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(880-882)AAC>AAA		radical S-adenosyl methionine domain containing							85.0	81.0	82.0					2																	7030450		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7030450C>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.882C>A	2.37:g.7030450C>A	ENSP00000371471:p.Asn294Lys						p.N294K	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	4	1018	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		294						Missense_Mutation	SNP	ENST00000382040.3	37	c.882C>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536575	0.65085	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	D;D	0.91843	-2.92;-2.92	5.62	3.45	0.39498	.	0.000000	0.85682	D	0.000000	D	0.95736	0.8613	M	0.90082	3.085	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.94900	0.8055	10	0.59425	D	0.04	-55.0813	7.0818	0.25235	0.0:0.6665:0.0:0.3335	.	294	Q8WXG1	RSAD2_HUMAN	K	294;187	ENSP00000371471:N294K;ENSP00000440859:N187K	ENSP00000371471:N294K	N	+	3	2	RSAD2	6947901	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.076000	0.30729	1.509000	0.48786	0.655000	0.94253	AAC		0.398	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		6	30	1	0	0.00307968	0.00308	0.0033563	6	30				
KIDINS220	57498	broad.mit.edu	37	2	8891728	8891728	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:8891728C>T	ENST00000256707.3	-	23	3239	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1020K|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1020K|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E978K	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1020					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.E1020K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCAATTTCAAGAAGTGGC	0.323																																							uc002qzc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3058-3060)GAA>AAA		kinase D-interacting substrate of 220 kDa							91.0	88.0	89.0					2																	8891728		1807	4078	5885	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8891728C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3058G>A	2.37:g.8891728C>T	ENSP00000256707:p.Glu1020Lys					KIDINS220_uc010yiv.1_Missense_Mutation_p.E786K|KIDINS220_uc002qzd.2_Missense_Mutation_p.E978K|KIDINS220_uc010yiw.1_Missense_Mutation_p.E1021K|KIDINS220_uc002qzb.2_5'Flank|KIDINS220_uc002qze.2_Missense_Mutation_p.E25K	p.E1020K	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			23	3240	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1020			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.3058G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434009	0.96150	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.70399	0.64;-0.48;-0.44;-0.36;-0.44;-0.41	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.76494	0.993;0.999;0.997;0.999;0.997	D;D;D;D;D	0.87578	0.971;0.987;0.995;0.998;0.995	D	0.86766	0.1970	10	0.87932	D	0	.	19.0427	0.93008	0.0:1.0:0.0:0.0	.	1021;1021;704;978;1020	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	K	767;704;1020;1020;978;1020;1021;29	ENSP00000420364:E767K;ENSP00000256707:E1020K;ENSP00000411849:E1020K;ENSP00000414923:E978K;ENSP00000418974:E1020K;ENSP00000419964:E1021K	ENSP00000256707:E1020K	E	-	1	0	KIDINS220	8809179	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.439000	0.80444	2.555000	0.86185	0.563000	0.77884	GAA		0.323	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		13	46	0	0	0	0.001368	0	13	46				
VSNL1	7447	broad.mit.edu	37	2	17836575	17836575	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:17836575G>A	ENST00000406397.1	+	4	1015	c.490G>A	c.(490-492)Gac>Aac	p.D164N	VSNL1_ENST00000404666.2_Missense_Mutation_p.D164N|VSNL1_ENST00000295156.4_Missense_Mutation_p.D164N			P62760	VISL1_HUMAN	visinin-like 1	164	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.D164N(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAACAAAGATGACCAGATTAC	0.438																																							uc002rcm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)GAC>AAC		visinin-like 1							130.0	112.0	118.0					2																	17836575		2203	4300	6503	SO:0001583	missense	7447						calcium ion binding	g.chr2:17836575G>A		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.490G>A	2.37:g.17836575G>A	ENSP00000384719:p.Asp164Asn						p.D164N	NM_003385	NP_003376	P62760	VISL1_HUMAN			4	874	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		164			3 (Potential).|EF-hand 4.		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	ENST00000406397.1	37	c.490G>A	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215618	0.58452	.	.	ENSG00000163032	ENST00000404666;ENST00000295156;ENST00000406397	T;T;T	0.70869	-0.52;-0.52;-0.52	5.58	4.7	0.59300	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	N	0.21097	0.63	0.80722	D	1	B	0.19583	0.037	B	0.21360	0.034	T	0.57213	-0.7850	10	0.59425	D	0.04	.	14.395	0.67005	0.071:0.0:0.929:0.0	.	164	P62760	VISL1_HUMAN	N	164	ENSP00000384014:D164N;ENSP00000295156:D164N;ENSP00000384719:D164N	ENSP00000295156:D164N	D	+	1	0	VSNL1	17700056	1.000000	0.71417	0.954000	0.39281	0.991000	0.79684	9.869000	0.99810	1.362000	0.46000	0.650000	0.86243	GAC		0.438	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		14	43	0	0	0	0.00245	0	14	43				
SMC6	79677	broad.mit.edu	37	2	17897437	17897437	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:17897437C>A	ENST00000448223.2	-	15	1710	c.1441G>T	c.(1441-1443)Ggc>Tgc	p.G481C	SMC6_ENST00000402989.1_Missense_Mutation_p.G481C|SMC6_ENST00000381272.4_Missense_Mutation_p.G507C|SMC6_ENST00000351948.4_Missense_Mutation_p.G481C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	481	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.G481C(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACATTAGGGCCAAATCTTTTG	0.368																																							uc002rco.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6						c.(1441-1443)GGC>TGC		SMC6 protein							165.0	173.0	170.0					2																	17897437		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17897437C>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1441G>T	2.37:g.17897437C>A	ENSP00000404092:p.Gly481Cys					SMC6_uc010exo.2_Missense_Mutation_p.G481C|SMC6_uc002rcn.2_Missense_Mutation_p.G481C|SMC6_uc002rcp.1_Missense_Mutation_p.G507C|SMC6_uc002rcq.2_Missense_Mutation_p.G507C	p.G481C	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN			15	1737	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		481			Flexible hinge.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.1441G>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638718	0.87760	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.32023	2.29;2.29;1.8;2.29;1.47	5.62	5.62	0.85841	RecF/RecN/SMC (1);	0.047081	0.85682	D	0.000000	T	0.58235	0.2108	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.59616	-0.7421	10	0.72032	D	0.01	.	19.6717	0.95914	0.0:1.0:0.0:0.0	.	507;507;481	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	C	481;481;507;481;507	ENSP00000404092:G481C;ENSP00000323439:G481C;ENSP00000370672:G507C;ENSP00000384539:G481C;ENSP00000408644:G507C	ENSP00000323439:G481C	G	-	1	0	SMC6	17760918	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.451000	0.73481	2.649000	0.89929	0.555000	0.69702	GGC		0.368	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		21	82	1	0	2.39556e-15	0.00278	4.19224e-15	21	82				
PUM2	23369	broad.mit.edu	37	2	20463123	20463123	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:20463123T>G	ENST00000361078.2	-	13	2078	c.2056A>C	c.(2056-2058)Agc>Cgc	p.S686R	PUM2_ENST00000536417.1_Missense_Mutation_p.S630R|PUM2_ENST00000319801.5_Missense_Mutation_p.S607R|PUM2_ENST00000338086.5_Missense_Mutation_p.S686R|PUM2_ENST00000403432.1_Missense_Mutation_p.S686R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	686	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.S686R(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGGCTGCTGGAGCTAAAT	0.463																																							uc002rds.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2056-2058)AGC>CGC		pumilio homolog 2							63.0	64.0	63.0					2																	20463123		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20463123T>G	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2056A>C	2.37:g.20463123T>G	ENSP00000354370:p.Ser686Arg					PUM2_uc002rdq.1_Missense_Mutation_p.S63R|PUM2_uc002rdt.1_Missense_Mutation_p.S686R|PUM2_uc002rdr.2_Missense_Mutation_p.S546R|PUM2_uc010yjy.1_Missense_Mutation_p.S607R|PUM2_uc002rdu.1_Missense_Mutation_p.S686R|PUM2_uc010yjz.1_Missense_Mutation_p.S625R	p.S686R	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			13	2079	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		686			Ser-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2056A>C		.	.	.	.	.	.	.	.	.	.	T	21.5	4.159610	0.78226	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.20332	2.08;2.37;2.44;2.2;2.08;2.08	5.71	4.56	0.56223	.	0.082746	0.85682	D	0.000000	T	0.32224	0.0822	L	0.54323	1.7	0.46586	D	0.999113	P;D;P;B	0.55605	0.871;0.972;0.845;0.18	P;P;P;B	0.54759	0.548;0.76;0.667;0.149	T	0.02053	-1.1222	10	0.44086	T	0.13	-7.1693	11.3859	0.49785	0.0:0.0704:0.0:0.9296	.	630;607;686;686	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	R	686;686;607;498;686;630	ENSP00000338173:S686R;ENSP00000354370:S686R;ENSP00000326746:S607R;ENSP00000409905:S498R;ENSP00000385992:S686R;ENSP00000440093:S630R	ENSP00000326746:S607R	S	-	1	0	PUM2	20326604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.167000	0.64972	1.000000	0.39049	0.533000	0.62120	AGC		0.463	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		12	43	0	0	0	0.001368	0	12	43				
APOB	338	broad.mit.edu	37	2	21230966	21230966	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:21230966C>A	ENST00000233242.1	-	26	8901	c.8774G>T	c.(8773-8775)gGa>gTa	p.G2925V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2925					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G2925V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCCTTTTCCAGAAGAAGT	0.473																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8773-8775)GGA>GTA		apolipoprotein B precursor	Atorvastatin(DB01076)						166.0	162.0	163.0					2																	21230966		2203	4299	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230966C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8774G>T	2.37:g.21230966C>A	ENSP00000233242:p.Gly2925Val						p.G2925V	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8902	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2925					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8774G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597776	0.46318	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00856	5.61	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000017	T	0.05181	0.0138	M	0.76574	2.34	0.80722	D	1	D	0.67145	0.996	P	0.60117	0.869	T	0.10042	-1.0647	10	0.72032	D	0.01	.	19.5294	0.95222	0.0:1.0:0.0:0.0	.	2925	P04114	APOB_HUMAN	V	2925	ENSP00000233242:G2925V	ENSP00000233242:G2925V	G	-	2	0	APOB	21084471	0.921000	0.31238	0.969000	0.41365	0.598000	0.36846	1.766000	0.38491	2.712000	0.92718	0.561000	0.74099	GGA		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			20	101	1	0	1.37657e-19	0.001882	2.53385e-19	20	101				
APOB	338	broad.mit.edu	37	2	21234459	21234459	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:21234459C>T	ENST00000233242.1	-	26	5408	c.5281G>A	c.(5281-5283)Ggc>Agc	p.G1761S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1761					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G1761S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGATAAGCCTGCAATGTTC	0.388																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(5281-5283)GGC>AGC		apolipoprotein B precursor	Atorvastatin(DB01076)						135.0	130.0	132.0					2																	21234459		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234459C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5281G>A	2.37:g.21234459C>T	ENSP00000233242:p.Gly1761Ser						p.G1761S	NM_000384	NP_000375	P04114	APOB_HUMAN			26	5409	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1761					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.5281G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479986	0.63849	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00776	5.71	5.8	5.8	0.92144	.	0.101898	0.42964	D	0.000629	T	0.02156	0.0067	M	0.62723	1.935	0.80722	D	1	D	0.59767	0.986	P	0.47206	0.541	T	0.63265	-0.6676	10	0.49607	T	0.09	.	20.0567	0.97653	0.0:1.0:0.0:0.0	.	1761	P04114	APOB_HUMAN	S	1761	ENSP00000233242:G1761S	ENSP00000233242:G1761S	G	-	1	0	APOB	21087964	0.999000	0.42202	0.949000	0.38748	0.986000	0.74619	2.847000	0.48270	2.752000	0.94435	0.650000	0.86243	GGC		0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			25	99	0	0	0	0.005443	0	25	99				
ASXL2	55252	broad.mit.edu	37	2	25991666	25991666	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:25991666C>A	ENST00000435504.4	-	7	869	c.576G>T	c.(574-576)caG>caT	p.Q192H	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.Q164H|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	192	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.Q192H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGAGATGCTGGTTGGAGG	0.453																																							uc002rgs.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(574-576)CAG>CAT		additional sex combs like 2							160.0	166.0	164.0					2																	25991666		2013	4197	6210	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25991666C>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.576G>T	2.37:g.25991666C>A	ENSP00000391447:p.Gln192His					ASXL2_uc002rgt.1_5'UTR	p.Q192H	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			6	797	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		192			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.576G>T		.	.	.	.	.	.	.	.	.	.	C	17.79	3.476023	0.63737	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.19105	2.17;2.17	6.03	-1.49	0.08718	.	0.352407	0.28630	N	0.014664	T	0.26666	0.0652	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.00839	-1.1545	10	0.87932	D	0	-3.2659	10.8338	0.46675	0.0:0.5237:0.0:0.4763	.	192	Q76L83	ASXL2_HUMAN	H	192;164	ENSP00000391447:Q192H;ENSP00000337250:Q164H	ENSP00000337250:Q164H	Q	-	3	2	ASXL2	25845170	0.996000	0.38824	0.940000	0.37924	0.934000	0.57294	0.198000	0.17217	-0.644000	0.05465	-0.302000	0.09304	CAG		0.453	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		18	93	1	0	5.35267e-07	0.007413	7.46502e-07	18	93				
KIF3C	3797	broad.mit.edu	37	2	26152180	26152180	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:26152180C>A	ENST00000264712.3	-	7	2861	c.2282G>T	c.(2281-2283)aGa>aTa	p.R761I	KIF3C_ENST00000496378.1_5'Flank|KIF3C_ENST00000405914.1_Missense_Mutation_p.R761I	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	761	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R761I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCAGGATCTGGACTTTCG	0.567																																							uc002rgu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2281-2283)AGA>ATA		kinesin family member 3C							89.0	78.0	82.0					2																	26152180		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26152180C>A		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.2282G>T	2.37:g.26152180C>A	ENSP00000264712:p.Arg761Ile					KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.R759I	p.R761I	NM_002254	NP_002245	O14782	KIF3C_HUMAN			7	2939	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		761			Globular (Potential).		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.2282G>T	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342579	0.95783	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.74632	-0.86;-0.86	5.72	5.72	0.89469	.	0.065645	0.56097	D	0.000027	T	0.75606	0.3872	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.54964	0.969;0.969	P;P	0.48654	0.585;0.585	T	0.78352	-0.2237	10	0.72032	D	0.01	.	17.3867	0.87418	0.0:1.0:0.0:0.0	.	759;761	B7ZM25;O14782	.;KIF3C_HUMAN	I	761;567;761	ENSP00000264712:R761I;ENSP00000385030:R761I	ENSP00000264712:R761I	R	-	2	0	KIF3C	26005684	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.000000	0.57039	2.702000	0.92279	0.462000	0.41574	AGA		0.567	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			9	38	1	0	0.000442599	0.006214	0.000512261	9	38				
OTOF	9381	broad.mit.edu	37	2	26699016	26699016	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:26699016G>T	ENST00000272371.2	-	23	2972	c.2846C>A	c.(2845-2847)cCc>cAc	p.P949H	OTOF_ENST00000403946.3_Missense_Mutation_p.P949H|OTOF_ENST00000339598.3_Missense_Mutation_p.P202H|OTOF_ENST00000338581.6_Missense_Mutation_p.P202H|OTOF_ENST00000402415.3_Missense_Mutation_p.P259H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	949	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.P949H(1)|p.P202H(1)|p.P259H(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCTGACGGGTGGGAAGGC	0.672																																					GBM(102;732 1451 20652 24062 31372)	GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(2845-2847)CCC>CAC		otoferlin isoform a							34.0	36.0	35.0					2																	26699016		2202	4298	6500	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26699016G>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2846C>A	2.37:g.26699016G>T	ENSP00000272371:p.Pro949His					OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.P202H|OTOF_uc002rhi.2_Missense_Mutation_p.P259H|OTOF_uc002rhj.2_Missense_Mutation_p.P202H	p.P949H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			23	2973	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		949			Cytoplasmic (Potential).|C2 3.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2846C>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558573	0.65538	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;D;D	0.81821	-1.28;-1.29;-1.25;-1.54;-1.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.982	D;D;D;P	0.97110	0.998;0.998;1.0;0.848	D	0.91190	0.4983	10	0.51188	T	0.08	-29.7047	18.7824	0.91939	0.0:0.0:1.0:0.0	.	949;202;259;202	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	202;202;259;949;949	ENSP00000345137:P202H;ENSP00000344521:P202H;ENSP00000383906:P259H;ENSP00000272371:P949H;ENSP00000385255:P949H	ENSP00000272371:P949H	P	-	2	0	OTOF	26552520	1.000000	0.71417	0.948000	0.38648	0.137000	0.21094	9.646000	0.98474	2.546000	0.85860	0.561000	0.74099	CCC		0.672	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	21	1	0	5.18039e-06	0.00308	6.82593e-06	8	21				
OTOF	9381	broad.mit.edu	37	2	26706330	26706330	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:26706330C>T	ENST00000272371.2	-	13	1518	c.1392G>A	c.(1390-1392)aaG>aaA	p.K464K	OTOF_ENST00000403946.3_Splice_Site_p.K464K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	464	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.K464K(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCCAGTACCTTCTGGCCAG	0.557																																					GBM(102;732 1451 20652 24062 31372)	GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1390-1392)AAG>AAA		otoferlin isoform a							73.0	64.0	67.0					2																	26706330		2203	4300	6503	SO:0001630	splice_region_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26706330C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1392+1G>A	2.37:g.26706330C>T							p.K464K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1519	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		464			Cytoplasmic (Potential).|C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1392G>A	CCDS1725.1																																																																																				0.557	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		Silent	6	29	0	0	0	0.001984	0	6	29				
PLB1	151056	broad.mit.edu	37	2	28816594	28816594	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:28816594C>A	ENST00000327757.5	+	33	2338	c.2294C>A	c.(2293-2295)aCc>aAc	p.T765N	PLB1_ENST00000329020.6_Missense_Mutation_p.T453N|PLB1_ENST00000422425.2_Missense_Mutation_p.T754N	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	765	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.T765N(1)|p.T754N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCGATGTCACCACACAGTAT	0.483																																							uc002rmb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(2293-2295)ACC>AAC		phospholipase B1 precursor							92.0	83.0	86.0					2																	28816594		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28816594C>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2294C>A	2.37:g.28816594C>A	ENSP00000330442:p.Thr765Asn					PLB1_uc010ezj.1_Missense_Mutation_p.T754N|PLB1_uc002rmc.2_Missense_Mutation_p.T453N	p.T765N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			33	2294	+	Acute lymphoblastic leukemia(172;0.155)		765			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.2294C>A	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.96|12.96	2.093066|2.093066	0.36952|0.36952	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	.|T;T;T;T	.|0.22539	.|1.95;1.95;2.67;2.69	5.67|5.67	0.651|0.651	0.17817|0.17817	.|Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	.|1.734390	.|0.02529	.|N	.|0.093343	T|T	0.32615|0.32615	0.0835|0.0835	M|M	0.70275|0.70275	2.135|2.135	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.30033	.|0.137;0.002;0.266	.|B;B;B	.|0.42882	.|0.252;0.016;0.401	T|T	0.27839|0.27839	-1.0062|-1.0062	5|10	.|0.27082	.|T	.|0.32	-0.3903|-0.3903	4.6256|4.6256	0.12476|0.12476	0.1418:0.467:0.0:0.3912|0.1418:0.467:0.0:0.3912	.|.	.|754;453;765	.|Q6P1J6-3;Q6P1J6-2;Q6P1J6	.|.;.;PLB1_HUMAN	T|N	753|765;754;475;453	.|ENSP00000330442:T765N;ENSP00000416440:T754N;ENSP00000392493:T475N;ENSP00000330729:T453N	.|ENSP00000330442:T765N	P|T	+|+	1|2	0|0	PLB1|PLB1	28670098|28670098	0.000000|0.000000	0.05858|0.05858	0.035000|0.035000	0.18076|0.18076	0.916000|0.916000	0.54674|0.54674	-2.618000|-2.618000	0.00880|0.00880	0.054000|0.054000	0.16065|0.16065	0.561000|0.561000	0.74099|0.74099	CCA|ACC		0.483	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			6	27	1	0	8.12818e-05	0.001984	9.82943e-05	6	27				
ALK	238	broad.mit.edu	37	2	29416528	29416528	+	Missense_Mutation	SNP	G	G	T	rs139039449		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:29416528G>T	ENST00000389048.3	-	29	5331	c.4425C>A	c.(4423-4425)caC>caA	p.H1475Q	ALK_ENST00000431873.1_Missense_Mutation_p.H305Q	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1475					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)	p.H1475Q(1)	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)	CCATATTCACGTGTCCCCCTT	0.577			"""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)	1	Substitution - Missense(1)		lung(1)	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.(4423-4425)CAC>CAA		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						107.0	109.0	108.0					2																	29416528		2203	4300	6503	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.chr2:29416528G>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.4425C>A	2.37:g.29416528G>T	ENSP00000373700:p.His1475Gln					ALK_uc010ymo.1_Missense_Mutation_p.H407Q	p.H1475Q	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			29	5332	-	Acute lymphoblastic leukemia(172;0.155)		1475			Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.4425C>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	g	12.90	2.076381	0.36662	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.77229	-1.08;2.72	5.37	2.62	0.31277	.	0.000000	0.49916	U	0.000127	T	0.80859	0.4704	M	0.63428	1.95	0.26489	N	0.974977	D	0.71674	0.998	P	0.61533	0.89	T	0.69793	-0.5049	10	0.27082	T	0.32	.	7.9443	0.29976	0.373:0.0:0.627:0.0	.	1475	Q9UM73	ALK_HUMAN	Q	1475;305	ENSP00000373700:H1475Q;ENSP00000414027:H305Q	ENSP00000373700:H1475Q	H	-	3	2	ALK	29270032	1.000000	0.71417	0.810000	0.32431	0.067000	0.16453	0.967000	0.29344	0.665000	0.31066	0.556000	0.70494	CAC		0.577	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		20	65	1	0	2.98393e-07	0.00278	4.20989e-07	20	65				
ALK	238	broad.mit.edu	37	2	29450489	29450489	+	Silent	SNP	C	C	A	rs185776406		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:29450489C>A	ENST00000389048.3	-	17	3771	c.2865G>T	c.(2863-2865)ggG>ggT	p.G955G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	955					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)	p.G955G(1)	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)	TGAAGGAAACCCCATCTTCCC	0.522			"""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)	1	Substitution - coding silent(1)		lung(1)	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.(2863-2865)GGG>GGT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						208.0	192.0	197.0					2																	29450489		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:29450489C>A	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.2865G>T	2.37:g.29450489C>A							p.G955G	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			17	3772	-	Acute lymphoblastic leukemia(172;0.155)		955			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.2865G>T	CCDS33172.1																																																																																				0.522	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		15	71	1	0	6.31663e-08	0.003163	9.21544e-08	15	71				
ALK	238	broad.mit.edu	37	2	29917834	29917834	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:29917834A>T	ENST00000389048.3	-	3	1740	c.834T>A	c.(832-834)ccT>ccA	p.P278P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	278	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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)	p.P278P(1)	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)	CATGCAGTGGAGGGGAATACT	0.562			"""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)	1	Substitution - coding silent(1)		lung(1)	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.(832-834)CCT>CCA		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						98.0	96.0	96.0					2																	29917834		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:29917834A>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.834T>A	2.37:g.29917834A>T							p.P278P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			3	1741	-	Acute lymphoblastic leukemia(172;0.155)		278			MAM 1.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.834T>A	CCDS33172.1																																																																																				0.562	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		19	68	0	0	0	0.007413	0	19	68				
XDH	7498	broad.mit.edu	37	2	31599964	31599964	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:31599964T>G	ENST00000379416.3	-	14	1430	c.1382A>C	c.(1381-1383)aAc>aCc	p.N461T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	461					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.N461T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GATGGTTCTGTTGGCCATTCC	0.473																																					Colon(66;682 1445 30109 40147)	Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1381-1383)AAC>ACC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						225.0	195.0	205.0					2																	31599964		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31599964T>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1382A>C	2.37:g.31599964T>G	ENSP00000368727:p.Asn461Thr						p.N461T	NM_000379	NP_000370	P47989	XDH_HUMAN			14	1461	-	Acute lymphoblastic leukemia(172;0.155)		461					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1382A>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.856057	0.32791	.	.	ENSG00000158125	ENST00000379416	T	0.22539	1.95	5.7	5.7	0.88788	Xanthine dehydrogenase, small subunit (1);CO dehydrogenase flavoprotein, C-terminal (3);	0.428068	0.27682	N	0.018282	T	0.16769	0.0403	N	0.22421	0.69	0.20074	N	0.999933	B	0.17038	0.02	B	0.26310	0.068	T	0.18241	-1.0343	10	0.66056	D	0.02	.	11.2572	0.49060	0.0:0.0:0.2714:0.7286	.	461	P47989	XDH_HUMAN	T	461	ENSP00000368727:N461T	ENSP00000368727:N461T	N	-	2	0	XDH	31453468	1.000000	0.71417	0.916000	0.36221	0.449000	0.32228	4.321000	0.59209	2.172000	0.68678	0.533000	0.62120	AAC		0.473	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		11	62	0	0	0	0.001368	0	11	62				
TTC27	55622	broad.mit.edu	37	2	32958990	32958990	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:32958990G>T	ENST00000317907.4	+	11	1560	c.1329G>T	c.(1327-1329)caG>caT	p.Q443H		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	443								p.Q443H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GGGCCATTCAGGTATTTCTGT	0.333																																							uc002rom.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1327-1329)CAG>CAT		tetratricopeptide repeat domain 27							127.0	115.0	119.0					2																	32958990		2203	4300	6503	SO:0001630	splice_region_variant	55622						protein binding	g.chr2:32958990G>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1329+1G>T	2.37:g.32958990G>T						TTC27_uc010ymx.1_Missense_Mutation_p.Q393H|TTC27_uc002ron.2_RNA	p.Q443H	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			11	1560	+			443			TPR 1.		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1329G>T	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486758	0.84854	.	.	ENSG00000018699	ENST00000317907	T	0.30448	1.53	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	M	0.72894	2.215	0.80722	D	1	D	0.65815	0.995	P	0.60345	0.873	T	0.48747	-0.9008	10	0.44086	T	0.13	-5.8104	16.1604	0.81700	0.0:0.0:1.0:0.0	.	443	Q6P3X3	TTC27_HUMAN	H	443	ENSP00000313953:Q443H	ENSP00000313953:Q443H	Q	+	3	2	TTC27	32812494	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.782000	0.62396	2.543000	0.85770	0.655000	0.94253	CAG		0.333	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	Missense_Mutation	11	59	1	0	1.08611e-07	0.000978	1.558e-07	11	59				
LTBP1	4052	broad.mit.edu	37	2	33500076	33500076	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:33500076C>A	ENST00000404816.2	+	17	3141	c.2788C>A	c.(2788-2790)Cgc>Agc	p.R930S	LTBP1_ENST00000407925.1_Missense_Mutation_p.R604S|LTBP1_ENST00000390003.4_Missense_Mutation_p.R605S|LTBP1_ENST00000418533.2_Missense_Mutation_p.R604S|LTBP1_ENST00000404525.1_Missense_Mutation_p.R551S|LTBP1_ENST00000402934.1_Missense_Mutation_p.R551S|LTBP1_ENST00000354476.3_Missense_Mutation_p.R931S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	930	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.R931S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTCCCAGGGCCGCTGTGAAAA	0.433																																							uc002ros.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2791-2793)CGC>AGC		latent transforming growth factor beta binding							108.0	104.0	106.0					2																	33500076		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33500076C>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2788C>A	2.37:g.33500076C>A	ENSP00000386043:p.Arg930Ser					LTBP1_uc002rot.2_Missense_Mutation_p.R605S|LTBP1_uc002rou.2_Missense_Mutation_p.R604S|LTBP1_uc002rov.2_Missense_Mutation_p.R551S|LTBP1_uc010ymz.1_Missense_Mutation_p.R604S|LTBP1_uc010yna.1_Missense_Mutation_p.R551S	p.R931S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			17	2791	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	930			EGF-like 5; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2791C>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	31	5.082220	0.94050	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.18;-2.86	5.77	5.77	0.91146	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.93106	0.7805	L	0.35249	1.045	0.80722	D	1	D;D;D;P;D;D	0.89917	0.972;0.964;1.0;0.936;0.963;0.965	P;P;D;P;P;P	0.79784	0.81;0.578;0.993;0.626;0.758;0.712	D	0.93529	0.6868	9	0.72032	D	0.01	.	19.9928	0.97374	0.0:1.0:0.0:0.0	.	930;604;551;604;605;931	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	S	930;931;605;604;551;551;604	ENSP00000386043:R930S;ENSP00000346467:R931S;ENSP00000374653:R605S;ENSP00000393057:R604S;ENSP00000384373:R551S;ENSP00000385359:R551S;ENSP00000384091:R604S	ENSP00000346467:R931S	R	+	1	0	LTBP1	33353580	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.488000	0.73637	2.745000	0.94114	0.650000	0.86243	CGC		0.433	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		14	61	1	0	1.49906e-05	0.00245	1.90125e-05	14	61				
HEATR5B	54497	broad.mit.edu	37	2	37280682	37280682	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:37280682T>A	ENST00000233099.5	-	17	2563	c.2468A>T	c.(2467-2469)cAg>cTg	p.Q823L	HEATR5B_ENST00000354531.2_Missense_Mutation_p.Q823L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	823						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.Q823L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TATGTTAAGCTGCACAGCCTG	0.308																																							uc002rpp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(2467-2469)CAG>CTG		HEAT repeat containing 5B							55.0	57.0	56.0					2																	37280682		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37280682T>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2468A>T	2.37:g.37280682T>A	ENSP00000233099:p.Gln823Leu						p.Q823L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			17	2564	-		all_hematologic(82;0.21)	823					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2468A>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812480	0.90707	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.09255	3.0;3.0	5.85	5.85	0.93711	Armadillo-type fold (1);	0.048773	0.85682	D	0.000000	T	0.28466	0.0704	M	0.80183	2.485	0.80722	D	1	D	0.52996	0.957	P	0.57846	0.828	T	0.17349	-1.0372	10	0.10377	T	0.69	-12.6893	16.2444	0.82434	0.0:0.0:0.0:1.0	.	823	Q9P2D3	HTR5B_HUMAN	L	823	ENSP00000233099:Q823L;ENSP00000346531:Q823L	ENSP00000233099:Q823L	Q	-	2	0	HEATR5B	37134186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.992000	0.88273	2.233000	0.73108	0.455000	0.32223	CAG		0.308	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		10	33	0	0	0	0.000978	0	10	33				
HEATR5B	54497	broad.mit.edu	37	2	37280747	37280747	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:37280747T>G	ENST00000233099.5	-	17	2498	c.2403A>C	c.(2401-2403)ttA>ttC	p.L801F	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L801F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	801						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L801F(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCAACATTTGTAATCTATAAC	0.333																																							uc002rpp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(2401-2403)TTA>TTC		HEAT repeat containing 5B							40.0	41.0	40.0					2																	37280747		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37280747T>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2403A>C	2.37:g.37280747T>G	ENSP00000233099:p.Leu801Phe						p.L801F	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			17	2499	-		all_hematologic(82;0.21)	801					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2403A>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	t	19.50	3.839747	0.71488	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.06849	3.25;3.25	5.28	-9.17	0.00691	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	M	0.67953	2.075	0.54753	D	0.999987	B	0.31859	0.343	B	0.37451	0.25	T	0.46843	-0.9162	10	0.10636	T	0.68	-9.7722	24.1144	0.99988	0.0:0.7819:0.0:0.2181	.	801	Q9P2D3	HTR5B_HUMAN	F	801	ENSP00000233099:L801F;ENSP00000346531:L801F	ENSP00000233099:L801F	L	-	3	2	HEATR5B	37134251	0.003000	0.15002	0.087000	0.20705	0.810000	0.45777	-1.281000	0.02802	-1.831000	0.01198	-0.545000	0.04230	TTA		0.333	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		5	18	0	0	0	0.000602	0	5	18				
SLC8A1	6546	broad.mit.edu	37	2	40397428	40397428	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:40397428G>T	ENST00000403092.1	-	7	2064	c.2031C>A	c.(2029-2031)acC>acA	p.T677T	SLC8A1_ENST00000332839.4_Silent_p.T677T|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.T672T|SLC8A1_ENST00000405901.3_Silent_p.T672T|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1_ENST00000408028.2_Silent_p.T669T|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	677					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.T677T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TACCTGCAATGGTGATTACAG	0.433																																							uc002rrx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2029-2031)ACC>ACA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						161.0	139.0	146.0					2																	40397428		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40397428G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2031C>A	2.37:g.40397428G>T						uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.T672T|SLC8A1_uc002rrz.2_Silent_p.T664T|SLC8A1_uc002rsa.2_Intron|SLC8A1_uc002rsd.3_Intron|SLC8A1_uc002rsb.1_Silent_p.T669T	p.T677T	NM_021097	NP_066920	P32418	NAC1_HUMAN			6	2055	-			677			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.2031C>A	CCDS1806.1																																																																																				0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		6	30	1	0	5.18039e-06	0.00308	6.82593e-06	6	30				
SLC8A1	6546	broad.mit.edu	37	2	40656313	40656313	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:40656313G>T	ENST00000403092.1	-	2	1141	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S	SLC8A1_ENST00000332839.4_Missense_Mutation_p.R370S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R370S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R370S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R370S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R370S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R370S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R370S|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R370S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R370S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	370					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R370S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCATGAGGCGAGTAGCTTGA	0.428																																							uc002rrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1108-1110)CGC>AGC		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						154.0	143.0	147.0					2																	40656313		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656313G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1108C>A	2.37:g.40656313G>T	ENSP00000384763:p.Arg370Ser					SLC8A1_uc002rry.2_Missense_Mutation_p.R370S|SLC8A1_uc002rrz.2_Missense_Mutation_p.R370S|SLC8A1_uc002rsa.2_Missense_Mutation_p.R370S|SLC8A1_uc002rsd.3_Missense_Mutation_p.R370S|SLC8A1_uc002rsb.1_Missense_Mutation_p.R370S|SLC8A1_uc010fan.1_Missense_Mutation_p.R370S|SLC8A1_uc002rsc.1_Missense_Mutation_p.R370S	p.R370S	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1132	-			370			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1108C>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588282	0.66105	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.56776	0.48;0.52;0.5;0.52;0.48;0.48;0.5;0.44;0.48;0.47	6.17	5.3	0.74995	.	0.048922	0.85682	D	0.000000	T	0.77538	0.4145	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.995;1.0;0.999;1.0	T	0.82878	-0.0239	10	0.87932	D	0	.	13.3312	0.60488	0.0754:0.0:0.9246:0.0	.	370;370;370;370;370	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	S	370	ENSP00000383886:R370S;ENSP00000440727:R370S;ENSP00000384763:R370S;ENSP00000385678:R370S;ENSP00000385188:R370S;ENSP00000385535:R370S;ENSP00000332931:R370S;ENSP00000384908:R370S;ENSP00000385811:R370S;ENSP00000443515:R370S	ENSP00000332931:R370S	R	-	1	0	SLC8A1	40509817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.326000	0.72905	1.635000	0.50512	0.655000	0.94253	CGC		0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		21	73	1	0	0.000132079	0.008871	0.0001588	21	73				
SLC8A1	6546	broad.mit.edu	37	2	40656998	40656998	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:40656998G>C	ENST00000403092.1	-	2	456	c.423C>G	c.(421-423)gcC>gcG	p.A141A	SLC8A1_ENST00000332839.4_Silent_p.A141A|SLC8A1_ENST00000406391.2_Silent_p.A141A|SLC8A1_ENST00000542756.1_Silent_p.A141A|SLC8A1_ENST00000405901.3_Silent_p.A141A|SLC8A1_ENST00000402441.1_Silent_p.A141A|SLC8A1_ENST00000542024.1_Silent_p.A141A|SLC8A1_ENST00000405269.1_Silent_p.A141A|SLC8A1_ENST00000406785.2_Silent_p.A141A|SLC8A1_ENST00000408028.2_Silent_p.A141A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	141					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A141A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGATCCCAGGGCCATCAAGG	0.463																																							uc002rrx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(421-423)GCC>GCG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						148.0	138.0	141.0					2																	40656998		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656998G>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.423C>G	2.37:g.40656998G>C						SLC8A1_uc002rry.2_Silent_p.A141A|SLC8A1_uc002rrz.2_Silent_p.A141A|SLC8A1_uc002rsa.2_Silent_p.A141A|SLC8A1_uc002rsd.3_Silent_p.A141A|SLC8A1_uc002rsb.1_Silent_p.A141A|SLC8A1_uc010fan.1_Silent_p.A141A|SLC8A1_uc002rsc.1_Silent_p.A141A	p.A141A	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	447	-			141			Helical; (Potential).|Alpha-1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.423C>G	CCDS1806.1																																																																																				0.463	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		10	74	0	0	0	0.000978	0	10	74				
PRKCE	5581	broad.mit.edu	37	2	46378245	46378245	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:46378245G>A	ENST00000306156.3	+	13	2124	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.E599E(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TGATGTACGAGATGATGGCTG	0.572																																							uc002rut.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10						c.(1795-1797)GAG>GAA		protein kinase C, epsilon							66.0	63.0	64.0					2																	46378245		2049	4067	6116	SO:0001819	synonymous_variant	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46378245G>A		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1797G>A	2.37:g.46378245G>A							p.E599E	NM_005400	NP_005391	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		13	1994	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	599			Protein kinase.		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	37	c.1797G>A	CCDS1824.1																																																																																				0.572	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			3	13	0	0	0	0.004672	0	3	13				
FSHR	2492	broad.mit.edu	37	2	49190937	49190937	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:49190937C>T	ENST00000406846.2	-	10	1142	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V	FSHR_ENST00000541117.1_Silent_p.V77V|FSHR_ENST00000346173.3_Silent_p.V279V|FSHR_ENST00000304421.4_Silent_p.V315V	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	341					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.V341V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCACGTCAACCACTTCATTGC	0.473									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1021-1023)GTG>GTA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						302.0	254.0	270.0					2																	49190937		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190937C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1023G>A	2.37:g.49190937C>T						FSHR_uc002rwx.2_Silent_p.V279V|FSHR_uc010fbn.2_Silent_p.V315V	p.V341V	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1097	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	341			Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.1023G>A	CCDS1843.1																																																																																				0.473	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			12	77	0	0	0	0.000978	0	12	77				
NRXN1	9378	broad.mit.edu	37	2	50765423	50765423	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:50765423C>A	ENST00000406316.2	-	10	3587	c.2111G>T	c.(2110-2112)gGa>gTa	p.G704V	NRXN1_ENST00000404971.1_Missense_Mutation_p.G744V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.G704V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G696V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G696V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G704V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	704	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G744V(1)|p.G745V(1)|p.G704V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAGCCTGTTCCGGAACAATC	0.468																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2230-2232)GGA>GTA		neurexin 1 isoform alpha2 precursor							141.0	141.0	141.0					2																	50765423		2007	4178	6185	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50765423C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2111G>T	2.37:g.50765423C>A	ENSP00000384311:p.Gly704Val					NRXN1_uc002rxb.3_Missense_Mutation_p.G376V|NRXN1_uc002rxe.3_Missense_Mutation_p.G704V|NRXN1_uc002rxc.1_RNA	p.G744V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3708	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2231G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111565	0.77210	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.981;1.0;1.0	P;D;D	0.87578	0.828;0.99;0.998	D	0.86892	0.2049	10	0.66056	D	0.02	.	18.7326	0.91741	0.0:1.0:0.0:0.0	.	744;704;696	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	744;704;696;704;745;696;704	ENSP00000385142:G744V;ENSP00000384311:G704V;ENSP00000434015:G696V;ENSP00000385017:G704V;ENSP00000385434:G696V;ENSP00000385681:G704V	ENSP00000385017:G704V	G	-	2	0	NRXN1	50618927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.841000	0.69409	2.649000	0.89929	0.650000	0.86243	GGA		0.468	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			22	119	1	0	1.22574e-08	0.002299	1.84558e-08	22	119				
BCL11A	53335	broad.mit.edu	37	2	60689034	60689035	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:60689034_60689035GG>AA	ENST00000335712.6	-	4	1239_1240	c.1012_1013CC>TT	c.(1012-1014)CCt>TTt	p.P338F	BCL11A_ENST00000358510.4_Missense_Mutation_p.P304F|BCL11A_ENST00000356842.4_Missense_Mutation_p.P338F|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.P304F	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	338	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.P338F(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCTTTGCATAGGGCTGGGCCGG	0.634			T	IGH@	B-CLL																																		uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - Missense(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1012-1014)CCT>TTT		B-cell CLL/lymphoma 11A isoform 1																																				SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689034_60689035GG>AA	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1012_1013delinsAA	2.37:g.60689034_60689035delinsAA	ENSP00000338774:p.Pro338Phe					BCL11A_uc002sab.2_Missense_Mutation_p.P338F|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.P304F|BCL11A_uc002sad.1_Missense_Mutation_p.P186F|BCL11A_uc002saf.1_Missense_Mutation_p.P304F	p.P338F	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1240_1241	-			338			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	DNP	ENST00000335712.6	37	c.1012_1013CC>TT	CCDS1862.1																																																																																				0.634	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		11	85	0	0	0	0.004672	0	11	85				
PLEK	5341	broad.mit.edu	37	2	68607577	68607577	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:68607577A>T	ENST00000234313.7	+	2	339	c.160A>T	c.(160-162)Act>Tct	p.T54S		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	54	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.T54S(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAAAGGGAGCACTCTGACTAG	0.463																																							uc002sen.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)ACT>TCT		pleckstrin							83.0	85.0	85.0					2																	68607577		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607577A>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.160A>T	2.37:g.68607577A>T	ENSP00000234313:p.Thr54Ser					PLEK_uc010fde.2_Missense_Mutation_p.T54S	p.T54S	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	2	322	+		Ovarian(717;0.0129)	54			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.160A>T	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719536	0.30503	.	.	ENSG00000115956	ENST00000234313	T	0.76448	-1.02	5.39	0.163	0.14986	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.687923	0.15720	N	0.247958	T	0.52370	0.1730	N	0.17594	0.5	0.25190	N	0.990137	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.24870	-1.0148	10	0.14656	T	0.56	.	1.9218	0.03309	0.4851:0.1239:0.2717:0.1193	.	72;54	Q59GZ2;P08567	.;PLEK_HUMAN	S	54	ENSP00000234313:T54S	ENSP00000234313:T54S	T	+	1	0	PLEK	68461081	0.001000	0.12720	0.080000	0.20451	0.983000	0.72400	0.670000	0.25157	-0.199000	0.10317	0.533000	0.62120	ACT		0.463	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		4	40	0	0	0	0.009096	0	4	40				
ARHGAP25	9938	broad.mit.edu	37	2	69046344	69046344	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:69046344C>A	ENST00000295381.3	+	9	1509	c.1090C>A	c.(1090-1092)Cct>Act	p.P364T	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P358T|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P365T|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P358T|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P58T|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P357T|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P325T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	364					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P358T(1)|p.P365T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGTCACCCCCTGCCCAGAA	0.517																																							uc002seu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(1090-1092)CCT>ACT		Rho GTPase activating protein 25 isoform a							122.0	132.0	129.0					2																	69046344		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046344C>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1090C>A	2.37:g.69046344C>A	ENSP00000295381:p.Pro364Thr					ARHGAP25_uc010fdg.2_Missense_Mutation_p.P365T|ARHGAP25_uc010yql.1_Missense_Mutation_p.P325T|ARHGAP25_uc002sev.2_Missense_Mutation_p.P358T|ARHGAP25_uc002sew.2_Missense_Mutation_p.P357T|ARHGAP25_uc002sex.2_Missense_Mutation_p.P358T|ARHGAP25_uc002sey.2_Missense_Mutation_p.P91T	p.P364T	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			9	1454	+			364					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1090C>A		.	.	.	.	.	.	.	.	.	.	C	4.497	0.092232	0.08632	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	T;T;T;T;T;T;T	0.18502	2.65;2.66;2.38;2.65;2.65;2.55;2.21	5.12	3.34	0.38264	.	0.165122	0.56097	D	0.000036	T	0.06826	0.0174	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.34103	0.142;0.437;0.437;0.437;0.208;0.103	B;B;B;B;B;B	0.30943	0.042;0.122;0.122;0.122;0.063;0.023	T	0.31392	-0.9945	10	0.13108	T	0.6	.	3.5113	0.07709	0.1365:0.5793:0.1326:0.1516	.	325;365;358;357;358;364	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	T	364;365;325;357;358;358;358;349;58	ENSP00000295381:P364T;ENSP00000386911:P365T;ENSP00000420583:P325T;ENSP00000386863:P357T;ENSP00000386241:P358T;ENSP00000417139:P358T;ENSP00000417467:P58T	ENSP00000295381:P364T	P	+	1	0	ARHGAP25	68899848	0.242000	0.23868	0.974000	0.42286	0.071000	0.16799	1.435000	0.34969	0.868000	0.35678	-0.251000	0.11542	CCT		0.517	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		31	103	1	0	1.61788e-16	0.002445	2.88327e-16	31	103				
LOXL3	84695	broad.mit.edu	37	2	74764011	74764011	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:74764011A>T	ENST00000264094.3	-	5	808	c.737T>A	c.(736-738)gTg>gAg	p.V246E	LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409249.1_Missense_Mutation_p.V246E|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.V246E	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	246	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.V246E(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACGCACGCCACCCCATGCAG	0.637																																							uc002smp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(736-738)GTG>GAG		lysyl oxidase-like 3 precursor							38.0	41.0	40.0					2																	74764011		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74764011A>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.737T>A	2.37:g.74764011A>T	ENSP00000264094:p.Val246Glu					LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Missense_Mutation_p.V246E|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	p.V246E	NM_032603	NP_115992	P58215	LOXL3_HUMAN			5	809	-			246			SRCR 2.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.737T>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.652963	0.67472	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000409549;ENST00000413469	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.5	4.5	0.54988	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.074972	0.53938	D	0.000044	T	0.68311	0.2987	M	0.93328	3.405	0.80722	D	1	D;P	0.76494	0.999;0.739	D;P	0.77004	0.989;0.543	T	0.73770	-0.3878	10	0.87932	D	0	.	6.838	0.23947	0.8969:0.0:0.1031:0.0	.	246;246	E7END4;P58215	.;LOXL3_HUMAN	E	246	ENSP00000264094:V246E;ENSP00000387103:V246E;ENSP00000386696:V246E;ENSP00000398260:V246E	ENSP00000264094:V246E	V	-	2	0	LOXL3	74617519	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.169000	0.77578	2.029000	0.59856	0.383000	0.25322	GTG		0.637	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		6	39	0	0	0	0.001984	0	6	39				
DOK1	1796	broad.mit.edu	37	2	74783136	74783136	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:74783136C>T	ENST00000233668.5	+	4	1239	c.570C>T	c.(568-570)gcC>gcT	p.A190A	LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000340004.6_Intron|LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000409429.1_Silent_p.A51A|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000409986.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000409549.1_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	190	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.A190A(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCGTGGGGGCCCAGAGTCAGA	0.652																																					Esophageal Squamous(36;520 860 12502 33616 51270)	Esophageal Squamous(36;520 860 12502 33616 51270)	uc002sms.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)GCC>GCT		docking protein 1							50.0	54.0	53.0					2																	74783136		2203	4300	6503	SO:0001819	synonymous_variant	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783136C>T	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.570C>T	2.37:g.74783136C>T						LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Silent_p.A51A|DOK1_uc010ffo.2_Silent_p.A51A|DOK1_uc002smt.2_Intron|DOK1_uc002smu.2_Intron|DOK1_uc010yrz.1_Silent_p.A179A|DOK1_uc002smv.2_Silent_p.A51A|DOK1_uc002smw.1_5'UTR	p.A190A	NM_001381	NP_001372	Q99704	DOK1_HUMAN			4	592	+			190			IRS-type PTB.		O43204|Q53TY2|Q9UHG6	Silent	SNP	ENST00000233668.5	37	c.570C>T	CCDS1954.1																																																																																				0.652	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		5	48	0	0	0	0.001168	0	5	48				
LRRTM4	80059	broad.mit.edu	37	2	77746810	77746810	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:77746810C>A	ENST00000409093.1	-	3	521	c.185G>T	c.(184-186)gGg>gTg	p.G62V	LRRTM4_ENST00000409088.3_Missense_Mutation_p.G62V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G63V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G62V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G63V			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	62					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.G62V(2)|p.G62A(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCCTTGTGACCCTCCAGAAAT	0.438																																							uc002snr.2		NA																	4	Substitution - Missense(4)		lung(2)|autonomic_ganglia(2)	pancreas(3)|ovary(1)	4						c.(184-186)GGG>GTG		leucine rich repeat transmembrane neuronal 4							125.0	119.0	121.0					2																	77746810		1945	4142	6087	SO:0001583	missense	80059					integral to membrane		g.chr2:77746810C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.185G>T	2.37:g.77746810C>A	ENSP00000386357:p.Gly62Val					LRRTM4_uc002snq.2_Missense_Mutation_p.G62V|LRRTM4_uc002sns.2_Missense_Mutation_p.G62V|LRRTM4_uc002snt.2_Missense_Mutation_p.G63V	p.G62V	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	600	-			62			LRR 1.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.185G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002736	0.54254	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63	5.72	5.72	0.89469	Leucine-rich repeat-containing N-terminal (1);	0.113920	0.64402	D	0.000011	T	0.16471	0.0396	L	0.47016	1.485	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.997	P;D;D	0.66716	0.884;0.946;0.934	T	0.00064	-1.2152	10	0.52906	T	0.07	.	18.4391	0.90658	0.0:1.0:0.0:0.0	.	63;62;62	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	V	63;62;62;62;63	ENSP00000387228:G63V;ENSP00000387297:G62V;ENSP00000386357:G62V;ENSP00000386236:G62V;ENSP00000386286:G63V	ENSP00000386236:G62V	G	-	2	0	LRRTM4	77600318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GGG		0.438	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		7	52	1	0	8.12818e-05	0.001984	9.82943e-05	7	52				
REG1A	5967	broad.mit.edu	37	2	79348047	79348047	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:79348047C>A	ENST00000233735.1	+	2	163	c.60C>A	c.(58-60)agC>agA	p.S20R		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	20					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.S20R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGTCTCAGAGCCAAGGTAAGA	0.438																																							uc002snz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(58-60)AGC>AGA		regenerating islet-derived 1 alpha precursor							114.0	96.0	102.0					2																	79348047		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348047C>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.60C>A	2.37:g.79348047C>A	ENSP00000233735:p.Ser20Arg					REG1A_uc010ffx.1_Missense_Mutation_p.S20R|REG1A_uc010ysd.1_Missense_Mutation_p.S20R	p.S20R	NM_002909	NP_002900	P05451	REG1A_HUMAN			2	163	+			20					P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.60C>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	17.28	3.349679	0.61183	.	.	ENSG00000115386	ENST00000233735	T	0.65732	-0.17	3.15	2.26	0.28386	.	0.824352	0.10211	N	0.702174	T	0.60830	0.2299	M	0.65975	2.015	0.23640	N	0.997222	P;D	0.53619	0.933;0.961	B;P	0.47206	0.386;0.541	T	0.48747	-0.9008	10	0.25751	T	0.34	.	6.2207	0.20679	0.0:0.8583:0.0:0.1417	.	20;20	A8K7G6;P05451	.;REG1A_HUMAN	R	20	ENSP00000233735:S20R	ENSP00000233735:S20R	S	+	3	2	REG1A	79201555	0.408000	0.25360	0.704000	0.30370	0.820000	0.46376	0.341000	0.19909	0.879000	0.35944	0.557000	0.71058	AGC		0.438	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		5	32	1	0	1.23904e-05	0.000602	1.57558e-05	5	32				
REG3A	5068	broad.mit.edu	37	2	79385498	79385498	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:79385498C>G	ENST00000409839.3	-	4	323	c.287G>C	c.(286-288)gGt>gCt	p.G96A	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.G96A|REG3A_ENST00000393878.1_Missense_Mutation_p.G96A	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	96	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.G96A(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GTAGCTGTTACCAATGCTCTT	0.567																																							uc002sod.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(286-288)GGT>GCT		pancreatitis-associated protein precursor							139.0	112.0	121.0					2																	79385498		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385498C>G	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.287G>C	2.37:g.79385498C>G	ENSP00000386630:p.Gly96Ala					REG3A_uc002soe.1_Missense_Mutation_p.G96A|REG3A_uc002sof.1_Missense_Mutation_p.G96A	p.G96A	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	542	-			96			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.287G>C	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.807318	0.00606	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.15834	2.39;2.39;2.39	4.02	-8.04	0.01110	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	11.951000	0.00166	N	0.000007	T	0.09949	0.0244	L	0.28344	0.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35251	-0.9796	10	0.06236	T	0.91	.	10.525	0.44943	0.1367:0.4353:0.4281:0.0	.	96	Q06141	REG3A_HUMAN	A	96	ENSP00000386630:G96A;ENSP00000377456:G96A;ENSP00000304311:G96A	ENSP00000304311:G96A	G	-	2	0	REG3A	79239006	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.633000	0.00408	-2.686000	0.00406	-1.390000	0.01156	GGT		0.567	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		10	41	0	0	0	0.001368	0	10	41				
KCMF1	56888	broad.mit.edu	37	2	85276557	85276557	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:85276557G>A	ENST00000409785.4	+	6	1029	c.670G>A	c.(670-672)Gct>Act	p.A224T		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	224							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A224T(2)		ovary(3)	3						TGGCCCTTCCGCTTCTCAGTT	0.527																																							uc002sox.3		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)	2						c.(670-672)GCT>ACT		potassium channel modulatory factor 1							100.0	106.0	104.0					2																	85276557		2148	4257	6405	SO:0001583	missense	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85276557G>A	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.670G>A	2.37:g.85276557G>A	ENSP00000386738:p.Ala224Thr						p.A224T	NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN			6	1014	+			224					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.670G>A	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527473	0.64860	.	.	ENSG00000176407	ENST00000409785	T	0.46819	0.86	5.96	5.96	0.96718	Drought induced 19/ RING finger protein 114 (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	N	0.11427	0.14	0.80722	D	1	P	0.44478	0.836	B	0.29716	0.106	T	0.12993	-1.0526	10	0.16896	T	0.51	-16.7384	17.9158	0.88950	0.0:0.0:1.0:0.0	.	224	Q9P0J7	KCMF1_HUMAN	T	224	ENSP00000386738:A224T	ENSP00000386738:A224T	A	+	1	0	KCMF1	85130068	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.503000	0.97984	2.832000	0.97577	0.655000	0.94253	GCT		0.527	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		7	56	0	0	0	0.00308	0	7	56				
EIF2AK3	9451	broad.mit.edu	37	2	88913343	88913343	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:88913343C>A	ENST00000303236.3	-	2	638	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	113					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.G113W(1)		ovary(3)	3						GCAATTCTCCCATCTAAAGTG	0.373																																					GBM(138;671 1851 16235 39058 45249)	GBM(138;671 1851 16235 39058 45249)	uc002stc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(337-339)GGG>TGG		eukaryotic translation initiation factor 2-alpha							105.0	93.0	97.0					2																	88913343		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88913343C>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.337G>T	2.37:g.88913343C>A	ENSP00000307235:p.Gly113Trp						p.G113W	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			2	539	-			113			Lumenal (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.337G>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547963	0.86022	.	.	ENSG00000172071	ENST00000303236	T	0.52754	0.65	5.38	5.38	0.77491	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78380	-0.2226	10	0.87932	D	0	-20.8697	19.1382	0.93436	0.0:1.0:0.0:0.0	.	113	Q9NZJ5	E2AK3_HUMAN	W	113	ENSP00000307235:G113W	ENSP00000307235:G113W	G	-	1	0	EIF2AK3	88694458	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.389000	0.79806	2.507000	0.84556	0.655000	0.94253	GGG		0.373	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		9	56	1	0	1.12685e-05	0.004482	1.44938e-05	9	56				
RPIA	22934	broad.mit.edu	37	2	89037542	89037542	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:89037542G>C	ENST00000283646.4	+	8	842	c.787G>C	c.(787-789)Gac>Cac	p.D263H		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	263					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.D263H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CTGGAAGTTTGACCGGGTACA	0.438																																							uc002ste.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(787-789)GAC>CAC		ribose 5-phosphate isomerase A							153.0	142.0	146.0					2																	89037542		1888	4124	6012	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89037542G>C	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.787G>C	2.37:g.89037542G>C	ENSP00000283646:p.Asp263His						p.D263H	NM_144563	NP_653164	P49247	RPIA_HUMAN			8	828	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	263					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.787G>C	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446973	0.84101	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.77098	-1.07	5.55	5.55	0.83447	.	0.182081	0.64402	D	0.000018	D	0.84401	0.5464	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.84657	0.0704	10	0.54805	T	0.06	-24.3449	19.0936	0.93240	0.0:0.0:1.0:0.0	.	263	P49247	RPIA_HUMAN	H	263;129	ENSP00000283646:D263H	ENSP00000283646:D263H	D	+	1	0	RPIA	88818657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.118000	0.77137	2.612000	0.88384	0.467000	0.42956	GAC		0.438	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			16	50	0	0	0	0.010504	0	16	50				
ASTL	431705	broad.mit.edu	37	2	96795703	96795703	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:96795703C>A	ENST00000342380.2	-	8	733	c.734G>T	c.(733-735)cGg>cTg	p.R245L		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.R245L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CAGCCCACGCCGGCTGAAGGC	0.652																																							uc010yui.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CGG>CTG		astacin-like metalloendopeptidase precursor							54.0	61.0	59.0					2																	96795703		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795703C>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.734G>T	2.37:g.96795703C>A	ENSP00000343674:p.Arg245Leu						p.R245L	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			8	734	-			245						Missense_Mutation	SNP	ENST00000342380.2	37	c.734G>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987782	0.35036	.	.	ENSG00000188886	ENST00000342380	T	0.63913	-0.07	4.14	2.15	0.27550	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.528419	0.15963	N	0.236161	T	0.42131	0.1189	L	0.31804	0.96	0.26177	N	0.979781	P	0.38597	0.639	B	0.36666	0.23	T	0.16600	-1.0397	10	0.27785	T	0.31	-11.2324	4.6288	0.12491	0.0:0.6463:0.2297:0.1239	.	245	Q6HA08	ASTL_HUMAN	L	245	ENSP00000343674:R245L	ENSP00000343674:R245L	R	-	2	0	ASTL	96159430	0.323000	0.24643	1.000000	0.80357	0.750000	0.42670	0.462000	0.21956	2.049000	0.60858	0.555000	0.69702	CGG		0.652	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			13	38	1	0	4.3838e-07	0.001855	6.12554e-07	13	38				
CNGA3	1261	broad.mit.edu	37	2	99013598	99013598	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:99013598G>A	ENST00000272602.2	+	7	2004	c.1965G>A	c.(1963-1965)caG>caA	p.Q655Q	CNGA3_ENST00000393504.1_Silent_p.Q655Q|CNGA3_ENST00000409937.1_Silent_p.Q659Q|CNGA3_ENST00000436404.2_Silent_p.Q637Q			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	655					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.Q655Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACGCCACCCAGATGAAGATGA	0.592																																							uc002syt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1963-1965)CAG>CAA		cyclic nucleotide gated channel alpha 3 isoform							39.0	39.0	39.0					2																	99013598		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013598G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1965G>A	2.37:g.99013598G>A						CNGA3_uc002syu.2_Silent_p.Q637Q|CNGA3_uc010fij.2_Silent_p.Q659Q	p.Q655Q	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2382	+			655					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.1965G>A	CCDS2034.1																																																																																				0.592	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		6	21	0	0	0	0.001984	0	6	21				
IL1R2	7850	broad.mit.edu	37	2	102626230	102626230	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:102626230G>T	ENST00000332549.3	+	3	503	c.274G>T	c.(274-276)Gct>Tct	p.A92S	IL1R2_ENST00000393414.2_Missense_Mutation_p.A92S|IL1R2_ENST00000441002.1_Missense_Mutation_p.A92S	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	92	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.A92S(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CCAGGACGGTGCTCTGTGGCT	0.607																																					Pancreas(106;189 1628 2302 5133 12295)	Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(274-276)GCT>TCT		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						136.0	143.0	140.0					2																	102626230		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102626230G>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.274G>T	2.37:g.102626230G>T	ENSP00000330959:p.Ala92Ser					IL1R2_uc002tbn.2_Missense_Mutation_p.A92S|IL1R2_uc002tbo.1_Missense_Mutation_p.A92S	p.A92S	NM_004633	NP_004624	P27930	IL1R2_HUMAN			3	503	+			92			Extracellular (Potential).|Ig-like C2-type 1.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.274G>T	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	9.189	1.025442	0.19512	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.8	-0.805	0.10879	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.932602	0.09136	N	0.843768	T	0.38480	0.1042	N	0.24115	0.695	0.09310	N	1	B	0.26902	0.163	B	0.35240	0.198	T	0.35871	-0.9771	10	0.08837	T	0.75	.	4.7752	0.13175	0.431:0.0:0.4289:0.1401	.	92	P27930	IL1R2_HUMAN	S	92	ENSP00000330959:A92S;ENSP00000377066:A92S;ENSP00000408415:A92S;ENSP00000414611:A92S	ENSP00000330959:A92S	A	+	1	0	IL1R2	101992662	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.243000	0.18106	-0.139000	0.11414	-0.258000	0.10820	GCT		0.607	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		28	149	1	0	1.68575e-08	0.007291	2.51739e-08	28	149				
IL1RL2	8808	broad.mit.edu	37	2	102849440	102849440	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:102849440G>T	ENST00000264257.2	+	10	1279	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	IL1RL2_ENST00000539491.1_Missense_Mutation_p.A385S|IL1RL2_ENST00000441515.2_Missense_Mutation_p.A267S|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	385	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.A385S(1)|p.A267S(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GCTGTATGACGCCTATGTCTT	0.498																																							uc002tbs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1153-1155)GCC>TCC		interleukin 1 receptor-like 2 precursor							109.0	101.0	103.0					2																	102849440		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102849440G>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1153G>T	2.37:g.102849440G>T	ENSP00000264257:p.Ala385Ser					IL1RL2_uc002tbt.2_Missense_Mutation_p.A267S	p.A385S	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN			10	1279	+			385			TIR.|Cytoplasmic (Potential).		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1153G>T	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591190	0.66219	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.03358	3.96;3.96;3.96	5.93	5.93	0.95920	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.054820	0.64402	D	0.000001	T	0.27900	0.0687	M	0.90977	3.165	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.05699	-1.0869	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	267;385	A4FU63;Q9HB29	.;ILRL2_HUMAN	S	385;267;385	ENSP00000264257:A385S;ENSP00000413348:A267S;ENSP00000442184:A385S	ENSP00000264257:A385S	A	+	1	0	IL1RL2	102215872	1.000000	0.71417	0.912000	0.35992	0.201000	0.24016	7.539000	0.82063	2.805000	0.96524	0.655000	0.94253	GCC		0.498	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		8	69	1	0	0.000157383	0.00308	0.000187214	8	69				
NCK2	8440	broad.mit.edu	37	2	106498470	106498470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:106498470G>T	ENST00000233154.4	+	4	1355	c.913G>T	c.(913-915)Gag>Tag	p.E305*	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Nonsense_Mutation_p.E305*	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	305	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)	p.E305*(1)|p.V305L(1)		endometrium(1)|lung(3)|ovary(1)	5						GCGGGGCGTGGAGGGCGACTT	0.687																																							uc002tdg.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(1)|lung(1)	2						c.(913-915)GAG>TAG		NCK adaptor protein 2 isoform A							20.0	22.0	21.0					2																	106498470		2197	4290	6487	SO:0001587	stop_gained	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498470G>T	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.913G>T	2.37:g.106498470G>T	ENSP00000233154:p.Glu305*					NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Nonsense_Mutation_p.E305*	p.E305*	NM_003581	NP_003572	O43639	NCK2_HUMAN			4	1355	+			305			SH2.		D3DVK1|Q9BWN9|Q9UIC3	Nonsense_Mutation	SNP	ENST00000233154.4	37	c.913G>T	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	40	8.380570	0.98786	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	.	.	.	5.36	4.48	0.54585	.	0.044802	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.0662	0.80878	0.0:0.1431:0.8569:0.0	.	.	.	.	X	305	.	ENSP00000233154:E305X	E	+	1	0	NCK2	105864902	1.000000	0.71417	0.947000	0.38551	0.948000	0.59901	7.532000	0.81985	1.406000	0.46857	0.462000	0.41574	GAG		0.687	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		5	19	1	0	8.12818e-05	0.001984	9.82943e-05	5	19				
SLC5A7	60482	broad.mit.edu	37	2	108626831	108626831	+	Silent	SNP	C	C	A	rs557717267		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:108626831C>A	ENST00000264047.2	+	9	1533	c.1257C>A	c.(1255-1257)ccC>ccA	p.P419P	SLC5A7_ENST00000540517.1_Silent_p.P314P|SLC5A7_ENST00000409059.1_Silent_p.P419P	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	419					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.P419P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTATCTTCCCCCAGCTGCTTT	0.498																																							uc002tdv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1255-1257)CCC>CCA		solute carrier family 5 (choline transporter),	Choline(DB00122)						270.0	220.0	237.0					2																	108626831		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626831C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1257C>A	2.37:g.108626831C>A						SLC5A7_uc010ywm.1_Silent_p.P172P|SLC5A7_uc010fjj.2_Silent_p.P419P|SLC5A7_uc010ywn.1_Silent_p.P306P	p.P419P	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1533	+			419			Helical; (Potential).		Q53TF2	Silent	SNP	ENST00000264047.2	37	c.1257C>A	CCDS2074.1																																																																																				0.498	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			22	56	1	0	1.64293e-13	0.00333	2.78476e-13	22	56				
SULT1C3	442038	broad.mit.edu	37	2	108881755	108881755	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:108881755A>T	ENST00000329106.2	+	7	863	c.863A>T	c.(862-864)gAc>gTc	p.D288V		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	288					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)	p.D288V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TTTGACAAGGACTACCAGAAG	0.458																																							uc010ywo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(862-864)GAC>GTC		sulfotransferase family, cytosolic, 1C, member							120.0	114.0	116.0					2																	108881755		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108881755A>T	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.863A>T	2.37:g.108881755A>T	ENSP00000333310:p.Asp288Val						p.D288V	NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN			7	863	+			288					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.863A>T	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472598	0.43942	.	.	ENSG00000196228	ENST00000329106	T	0.80033	-1.33	5.11	5.11	0.69529	Sulfotransferase domain (1);	0.452476	0.20451	N	0.092084	T	0.77698	0.4169	L	0.28776	0.89	0.80722	D	1	B	0.33103	0.397	P	0.45610	0.487	T	0.71879	-0.4459	10	0.16896	T	0.51	.	14.2407	0.65954	1.0:0.0:0.0:0.0	.	288	Q6IMI6	ST1C3_HUMAN	V	288	ENSP00000333310:D288V	ENSP00000333310:D288V	D	+	2	0	SULT1C3	108248187	0.614000	0.27017	0.985000	0.45067	0.992000	0.81027	2.580000	0.46068	2.144000	0.66660	0.533000	0.62120	GAC		0.458	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		4	41	0	0	0	0.000602	0	4	41				
IL36G	56300	broad.mit.edu	37	2	113737683	113737683	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:113737683G>C	ENST00000259205.4	+	4	327	c.258G>C	c.(256-258)ttG>ttC	p.L86F	IL36G_ENST00000376489.2_Missense_Mutation_p.L51F	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	86					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)		p.L86F(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AAATGTGTTTGTATTGTGAGA	0.403																																						Esophageal Squamous(44;715 981 6239 42838 46707)	uc002tio.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(256-258)TTG>TTC		interleukin 1 family, member 9							73.0	73.0	73.0					2																	113737683		2203	4300	6503	SO:0001583	missense	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113737683G>C	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.258G>C	2.37:g.113737683G>C	ENSP00000259205:p.Leu86Phe					IL1F9_uc010fkr.1_Missense_Mutation_p.L51F	p.L86F	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN			4	327	+			86					Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	c.258G>C	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196576	0.22037	.	.	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.40756	1.02;1.89	5.08	0.134	0.14771	.	0.000000	0.47455	D	0.000230	T	0.56819	0.2011	M	0.83603	2.65	0.25318	N	0.989141	D;D	0.76494	0.999;0.986	D;P	0.71656	0.974;0.85	T	0.45673	-0.9245	10	0.51188	T	0.08	-21.1736	4.14	0.10189	0.3418:0.0:0.5054:0.1528	.	51;86	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	F	51;86	ENSP00000365672:L51F;ENSP00000259205:L86F	ENSP00000259205:L86F	L	+	3	2	IL36G	113454154	0.227000	0.23707	0.415000	0.26534	0.038000	0.13279	0.099000	0.15210	0.068000	0.16574	-0.789000	0.03336	TTG		0.403	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		16	41	0	0	0	0.00499	0	16	41				
MARCO	8685	broad.mit.edu	37	2	119731947	119731947	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:119731947G>T	ENST00000327097.4	+	5	634	c.499G>T	c.(499-501)Gcc>Tcc	p.A167S	MARCO_ENST00000541757.1_Missense_Mutation_p.A89S	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	167	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.A167S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CATGCCTGGTGCCCCTGGCCC	0.577																																					GBM(8;18 374 7467 11269 32796)	GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(499-501)GCC>TCC		macrophage receptor with collagenous structure							66.0	67.0	67.0					2																	119731947		2198	4296	6494	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119731947G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.499G>T	2.37:g.119731947G>T	ENSP00000318916:p.Ala167Ser					MARCO_uc010yyf.1_Missense_Mutation_p.A89S	p.A167S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			5	631	+			167			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.499G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	6.389	0.439830	0.12104	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	T;T	0.71698	-0.59;-0.59	2.95	-2.22	0.06952	.	3.325200	0.00983	N	0.003407	T	0.51295	0.1666	N	0.16307	0.4	0.09310	N	1	B	0.22983	0.078	B	0.22880	0.042	T	0.24799	-1.0150	9	.	.	.	.	4.2763	0.10811	0.2949:0.4306:0.2744:0.0	.	167	Q9UEW3	MARCO_HUMAN	S	167;167;89	ENSP00000318916:A167S;ENSP00000441769:A89S	.	A	+	1	0	MARCO	119448417	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.531000	0.06171	-0.475000	0.06852	-0.367000	0.07326	GCC		0.577	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		3	8	1	0	0.004672	0.004672	0.00503511	3	8				
MARCO	8685	broad.mit.edu	37	2	119752009	119752009	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:119752009G>T	ENST00000327097.4	+	17	1611	c.1476G>T	c.(1474-1476)gaG>gaT	p.E492D	MARCO_ENST00000541757.1_Missense_Mutation_p.E414D	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	492	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.E492D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGCACGGAGAGTACCCTGT	0.557																																					GBM(8;18 374 7467 11269 32796)	GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1474-1476)GAG>GAT		macrophage receptor with collagenous structure							122.0	106.0	112.0					2																	119752009		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119752009G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1476G>T	2.37:g.119752009G>T	ENSP00000318916:p.Glu492Asp					MARCO_uc010yyf.1_Missense_Mutation_p.E414D	p.E492D	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			17	1608	+			492			SRCR.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1476G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936636	0.34189	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	T;T	0.45276	0.9;0.9	5.25	1.35	0.21983	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000002	T	0.68081	0.2962	H	0.94847	3.59	0.26793	N	0.969356	D	0.89917	1.0	D	0.91635	0.999	T	0.60068	-0.7335	9	.	.	.	.	7.2958	0.26393	0.3762:0.0:0.6238:0.0	.	492	Q9UEW3	MARCO_HUMAN	D	492;438;414	ENSP00000318916:E492D;ENSP00000441769:E414D	.	E	+	3	2	MARCO	119468479	0.198000	0.23374	0.046000	0.18839	0.004000	0.04260	0.326000	0.19646	0.346000	0.23899	-0.136000	0.14681	GAG		0.557	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		5	30	1	0	2.0095e-06	0.001984	2.69165e-06	5	30				
IMP4	92856	broad.mit.edu	37	2	131102277	131102277	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:131102277G>T	ENST00000259239.3	+	3	896	c.188G>T	c.(187-189)gGa>gTa	p.G63V	CCDC115_ENST00000437688.2_5'Flank|IMP4_ENST00000409935.1_Missense_Mutation_p.G63V|CCDC115_ENST00000259229.2_5'Flank|CCDC115_ENST00000409127.1_5'Flank	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	63					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)		p.G63V(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GATGATGCTGGAGGTGAAGGT	0.567																																							uc002tra.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(187-189)GGA>GTA		IMP4, U3 small nucleolar ribonucleoprotein,							105.0	93.0	97.0					2																	131102277		2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131102277G>T	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.188G>T	2.37:g.131102277G>T	ENSP00000259239:p.Gly63Val					CCDC115_uc002tqw.1_5'Flank|CCDC115_uc010zaf.1_5'Flank|CCDC115_uc002tqx.2_5'Flank|CCDC115_uc002tqy.1_5'Flank|CCDC115_uc002tqz.1_5'Flank	p.G63V	NM_033416	NP_219484	Q96G21	IMP4_HUMAN			3	205	+	Colorectal(110;0.1)		63					Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.188G>T	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.048656|4.048656	0.75846|0.75846	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000428740;ENST00000452955|ENST00000259239;ENST00000409935	.|T;T	.|0.44083	.|0.93;0.94	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.116139	.|0.64402	.|D	.|0.000020	.|T	.|0.42268	.|0.1195	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|B	.|0.30455	.|0.28	.|B	.|0.25987	.|0.065	.|T	.|0.37407	.|-0.9707	.|10	0.66056|0.39692	D|T	0.02|0.17	-24.9301|-24.9301	15.6968|15.6968	0.77506|0.77506	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|63	.|Q96G21	.|IMP4_HUMAN	X|V	4;52|63	.|ENSP00000259239:G63V;ENSP00000386411:G63V	ENSP00000389701:E4X|ENSP00000259239:G63V	E|G	+|+	1|2	0|0	IMP4|IMP4	130818747|130818747	1.000000|1.000000	0.71417|0.71417	0.217000|0.217000	0.23759|0.23759	0.037000|0.037000	0.13140|0.13140	7.252000|7.252000	0.78309|0.78309	2.641000|2.641000	0.89580|0.89580	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.567	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		10	20	1	0	3.86212e-05	0.008291	4.78167e-05	10	20				
POTEE	445582	broad.mit.edu	37	2	132021506	132021506	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:132021506C>A	ENST00000356920.5	+	15	2572	c.2478C>A	c.(2476-2478)acC>acA	p.T826T	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	826	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T826T(1)									TGTTTGAGACCTTCAACACCC	0.622																																							uc002tsn.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2476-2478)ACC>ACA		protein expressed in prostate, ovary, testis,							105.0	108.0	107.0					2																	132021506		2194	4281	6475	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021506C>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2478C>A	2.37:g.132021506C>A						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T426T|POTEE_uc002tsl.2_Silent_p.T408T|POTEE_uc010fmy.1_Silent_p.T290T	p.T826T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2530	+			826			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2478C>A	CCDS46414.1																																																																																				0.622	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		14	128	1	0	6.49762e-13	0.006122	1.08992e-12	14	128				
NCKAP5	344148	broad.mit.edu	37	2	133541199	133541199	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:133541199C>A	ENST00000409261.1	-	14	3558	c.3185G>T	c.(3184-3186)gGa>gTa	p.G1062V	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1062V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1062								p.G1062V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGTCTGTAATCCTATGTCCCT	0.512																																							uc002ttp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3184-3186)GGA>GTA		Nck-associated protein 5 isoform 1							134.0	139.0	138.0					2																	133541199		1918	4133	6051	SO:0001583	missense	344148						protein binding	g.chr2:133541199C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3185G>T	2.37:g.133541199C>A	ENSP00000387128:p.Gly1062Val					NCKAP5_uc002ttq.2_Intron	p.G1062V	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	3559	-			1062					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3185G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	8.744	0.919591	0.17982	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10288	2.89;2.89	5.34	2.55	0.30701	.	0.457413	0.15829	U	0.242593	T	0.08403	0.0209	L	0.27053	0.805	0.19575	N	0.999962	P	0.49358	0.923	P	0.46110	0.504	T	0.20840	-1.0263	10	0.42905	T	0.14	.	3.812	0.08801	0.0:0.4916:0.1803:0.3281	.	1062	O14513	NCKP5_HUMAN	V	1062	ENSP00000387128:G1062V;ENSP00000380603:G1062V	ENSP00000380603:G1062V	G	-	2	0	NCKAP5	133257669	0.013000	0.17824	0.038000	0.18304	0.007000	0.05969	0.464000	0.21988	0.377000	0.24735	-0.140000	0.14226	GGA		0.512	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		13	65	1	0	4.36969e-10	0.001855	6.88557e-10	13	65				
CCNT2	905	broad.mit.edu	37	2	135711659	135711659	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:135711659G>A	ENST00000264157.5	+	9	1664	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N	CCNT2_ENST00000537343.1_Missense_Mutation_p.S370N|CCNT2_ENST00000295238.6_Missense_Mutation_p.S545N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	545					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S545N(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGTGGGAAGAGCAAACATTCA	0.463																																							uc002tuc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1633-1635)AGC>AAC		cyclin T2 isoform b							82.0	82.0	82.0					2																	135711659		2203	4300	6503	SO:0001583	missense	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135711659G>A	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1634G>A	2.37:g.135711659G>A	ENSP00000264157:p.Ser545Asn					CCNT2_uc002tub.1_Missense_Mutation_p.S545N|CCNT2_uc010zbf.1_Missense_Mutation_p.S370N|CCNT2_uc002tud.1_Missense_Mutation_p.S208N	p.S545N	NM_058241	NP_490595	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	9	1666	+			545					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	c.1634G>A	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840422	0.32513	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.27402	1.72;1.67	5.19	5.19	0.71726	.	0.037467	0.85682	D	0.000000	T	0.36880	0.0983	L	0.53249	1.67	0.53688	D	0.999974	B;P;P	0.47762	0.376;0.698;0.9	B;B;P	0.44990	0.163;0.276;0.466	T	0.05616	-1.0874	10	0.31617	T	0.26	.	18.9117	0.92489	0.0:0.0:1.0:0.0	.	370;545;545	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	N	370;545;545	ENSP00000295238:S545N;ENSP00000264157:S545N	ENSP00000264157:S545N	S	+	2	0	CCNT2	135428129	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.775000	0.85489	2.712000	0.92718	0.650000	0.86243	AGC		0.463	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		7	45	0	0	0	0.001984	0	7	45				
MCM6	4175	broad.mit.edu	37	2	136598469	136598469	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:136598469C>T	ENST00000264156.2	-	17	2462	c.2402G>A	c.(2401-2403)gGa>gAa	p.G801E		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	801					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.G801E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GCTCTCACTTCCCTCTGTGGA	0.428																																					Ovarian(196;141 2104 8848 24991 25939)	Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2401-2403)GGA>GAA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						141.0	122.0	129.0					2																	136598469		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136598469C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.2402G>A	2.37:g.136598469C>T	ENSP00000264156:p.Gly801Glu						p.G801E	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	17	2478	-			801					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.2402G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	9.515	1.106649	0.20714	.	.	ENSG00000076003	ENST00000264156	T	0.02974	4.09	5.25	5.25	0.73442	.	0.183722	0.48767	D	0.000178	T	0.01870	0.0059	N	0.17082	0.46	0.42906	D	0.994249	B	0.02656	0.0	B	0.01281	0.0	T	0.38243	-0.9670	10	0.02654	T	1	-19.3614	10.8213	0.46606	0.0:0.8779:0.0:0.1221	.	801	Q14566	MCM6_HUMAN	E	801	ENSP00000264156:G801E	ENSP00000264156:G801E	G	-	2	0	MCM6	136314939	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.102000	0.41796	2.607000	0.88179	0.650000	0.86243	GGA		0.428	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		10	49	0	0	0	0.008291	0	10	49				
THSD7B	80731	broad.mit.edu	37	2	137928425	137928425	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:137928425C>A	ENST00000409968.1	+	7	1818	c.1640C>A	c.(1639-1641)gCa>gAa	p.A547E	THSD7B_ENST00000413152.2_Missense_Mutation_p.A516E|THSD7B_ENST00000272643.3_Missense_Mutation_p.A547E|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	547						integral component of membrane (GO:0016021)		p.A516E(1)|p.A547E(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGATGGCTGGCATCAGAAGGG	0.547																																							uc002tva.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1546-1548)GCA>GAA		thrombospondin, type I, domain containing 7B							115.0	109.0	111.0					2																	137928425		2026	4189	6215	SO:0001583	missense	80731							g.chr2:137928425C>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1640C>A	2.37:g.137928425C>A	ENSP00000387145:p.Ala547Glu					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.A406E	p.A516E	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1547	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1547C>A		.	.	.	.	.	.	.	.	.	.	C	11.92	1.782172	0.31502	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24538	2.37;2.24;1.85	5.91	-3.29	0.05017	.	0.731718	0.13741	N	0.365946	T	0.18923	0.0454	L	0.33624	1.015	0.09310	N	1	B;B	0.29936	0.262;0.136	B;B	0.34038	0.174;0.174	T	0.21793	-1.0235	10	0.30854	T	0.27	.	13.4398	0.61106	0.0:0.1719:0.0:0.8281	.	547;516	Q9C0I4;C9JKN6	THS7B_HUMAN;.	E	547;547;516	ENSP00000387145:A547E;ENSP00000272643:A547E;ENSP00000413841:A516E	ENSP00000272643:A547E	A	+	2	0	THSD7B	137644895	0.000000	0.05858	0.000000	0.03702	0.921000	0.55340	-0.571000	0.05889	-0.477000	0.06832	-0.137000	0.14449	GCA		0.547	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		6	29	1	0	0.00116845	0.001168	0.00130265	6	29				
THSD7B	80731	broad.mit.edu	37	2	138400070	138400071	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:138400070_138400071GG>TT	ENST00000409968.1	+	21	3990_3991	c.3812_3813GG>TT	c.(3811-3813)cGG>cTT	p.R1271L	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1243L|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1274L|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1273	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.R1274L(1)|p.R1243L(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGAATGAGCCGGACTCGATTTA	0.495																																							uc002tva.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3724-3726)CGG>CTT		thrombospondin, type I, domain containing 7B																																				SO:0001583	missense	80731							g.chr2:138400070_138400071GG>TT			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	Exception_encountered	2.37:g.138400070_138400071delinsTT	ENSP00000387145:p.Arg1271Leu					THSD7B_uc010zbj.1_Intron	p.R1242L	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	20	3725_3726	+									Missense_Mutation	DNP	ENST00000409968.1	37	c.3725_3726GG>TT																																																																																					0.495	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		11	69	0	0	0	0.004672	0	11	69				
RIF1	55183	broad.mit.edu	37	2	152293374	152293374	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:152293374C>T	ENST00000243326.5	+	11	1712	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	RIF1_ENST00000428287.2_Missense_Mutation_p.P410L|RIF1_ENST00000453091.2_Missense_Mutation_p.P410L|RIF1_ENST00000430328.2_Missense_Mutation_p.P410L|RIF1_ENST00000444746.2_Missense_Mutation_p.P410L|RIF1_ENST00000433166.2_Missense_Mutation_p.P340S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.P410L(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCGGGAACTCCCCGAATGAAC	0.418																																							uc002txm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(1228-1230)CCC>CTC		RAP1 interacting factor 1							54.0	52.0	53.0					2																	152293374		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152293374C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1229C>T	2.37:g.152293374C>T	ENSP00000243326:p.Pro410Leu					RIF1_uc002txl.2_Missense_Mutation_p.P410L|RIF1_uc010fnv.1_Missense_Mutation_p.P374L|RIF1_uc002txn.2_Missense_Mutation_p.P410L|RIF1_uc002txo.2_Missense_Mutation_p.P410L|RIF1_uc010zby.1_RNA	p.P410L	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	12	1359	+			410					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.1229C>T	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.625325|4.625325	0.87560|0.87560	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000433166	T;T;T;T;T|.	0.14144|.	2.53;2.53;2.53;2.53;2.53|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.214262|0.214262	0.49916|0.49916	D|D	0.000134|0.000134	T|T	0.61160|0.61160	0.2325|0.2325	M|M	0.65975|0.65975	2.015|2.015	0.23366|0.23366	N|N	0.997822|0.997822	D;D|.	0.61697|.	0.99;0.987|.	P;P|.	0.62089|.	0.813;0.898|.	T|T	0.56038|0.56038	-0.8045|-0.8045	10|6	0.62326|.	D|.	0.03|.	-1.6492|-1.6492	18.7579|18.7579	0.91839|0.91839	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	410;410|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	L|S	410|340	ENSP00000390181:P410L;ENSP00000414615:P410L;ENSP00000415691:P410L;ENSP00000243326:P410L;ENSP00000416123:P410L|.	ENSP00000243326:P410L|.	P|P	+|+	2|1	0|0	RIF1|RIF1	152001620|152001620	0.671000|0.671000	0.27521|0.27521	0.047000|0.047000	0.18901|0.18901	0.635000|0.635000	0.38103|0.38103	5.125000|5.125000	0.64715|0.64715	2.536000|2.536000	0.85505|0.85505	0.557000|0.557000	0.71058|0.71058	CCC|CCC		0.418	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			6	36	0	0	0	0.001984	0	6	36				
NEB	4703	broad.mit.edu	37	2	152426643	152426643	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:152426643G>A	ENST00000172853.10	-	81	12426	c.12279C>T	c.(12277-12279)gaC>gaT	p.D4093D	NEB_ENST00000409198.1_Silent_p.D4093D|NEB_ENST00000397345.3_Silent_p.D5794D|NEB_ENST00000603639.1_Silent_p.D5794D|NEB_ENST00000604864.1_Silent_p.D5794D|NEB_ENST00000427231.2_Silent_p.D5794D			P20929	NEBU_HUMAN	nebulin	4093					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)	p.D4093D(1)|p.D5794D(1)		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)		CATCGTTCTGGTCGGGCATGC	0.512																																							uc010fnx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(12277-12279)GAC>GAT		nebulin isoform 3							46.0	46.0	46.0					2																	152426643		2056	4193	6249	SO:0001819	synonymous_variant	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.chr2:152426643G>A	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.12279C>T	2.37:g.152426643G>A						NEB_uc002txr.2_Silent_p.D516D	p.D4093D	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12470	-			4093			Nebulin 112.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.12279C>T																																																																																					0.512	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	14	0	0	0	0.000602	0	4	14				
NR4A2	4929	broad.mit.edu	37	2	157183359	157183359	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:157183359G>A	ENST00000339562.4	-	6	1594	c.1232C>T	c.(1231-1233)aCt>aTt	p.T411I	NR4A2_ENST00000539077.1_Missense_Mutation_p.T422I|NR4A2_ENST00000429376.1_Missense_Mutation_p.T348I|NR4A2_ENST00000426264.1_Missense_Mutation_p.T348I|NR4A2_ENST00000409572.1_Missense_Mutation_p.T411I|NR4A2_ENST00000409108.2_Missense_Mutation_p.T411I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	411	Ligand-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.T411I(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CATGGAGCCAGTCAGGAGATC	0.483																																							uc002tyz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1231-1233)ACT>ATT		nuclear receptor subfamily 4, group A, member 2							110.0	118.0	115.0					2																	157183359		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157183359G>A	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1232C>T	2.37:g.157183359G>A	ENSP00000344479:p.Thr411Ile					NR4A2_uc002tyx.3_Missense_Mutation_p.T348I|NR4A2_uc010zcf.1_Missense_Mutation_p.T411I|NR4A2_uc010zcg.1_Missense_Mutation_p.T33I	p.T411I	NM_006186	NP_006177	P43354	NR4A2_HUMAN			6	1654	-			411			Ligand-binding (Potential).		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1232C>T	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603198	0.87157	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	D;D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22;-4.22	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72982	0.979;0.93	D	0.98829	1.0750	10	0.72032	D	0.01	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	64;411	C0KWD2;P43354	.;NR4A2_HUMAN	I	411;348;411;422;411;348	ENSP00000344479:T411I;ENSP00000389986:T348I;ENSP00000386747:T411I;ENSP00000444925:T422I;ENSP00000386993:T411I;ENSP00000410952:T348I	ENSP00000344479:T411I	T	-	2	0	NR4A2	156891605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.772000	0.98984	2.814000	0.96858	0.563000	0.77884	ACT		0.483	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			18	94	0	0	0	0.006122	0	18	94				
FAP	2191	broad.mit.edu	37	2	163059565	163059565	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:163059565T>C	ENST00000188790.4	-	13	1345	c.1138A>G	c.(1138-1140)Atc>Gtc	p.I380V	FAP_ENST00000443424.1_Missense_Mutation_p.I355V	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.I380V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTGTCTTTGATATAGTGAATA	0.348																																							uc002ucd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1138-1140)ATC>GTC		fibroblast activation protein, alpha subunit							97.0	90.0	92.0					2																	163059565		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163059565T>C	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1138A>G	2.37:g.163059565T>C	ENSP00000188790:p.Ile380Val					FAP_uc010zct.1_Missense_Mutation_p.I355V|FAP_uc010fpd.2_Intron	p.I380V	NM_004460	NP_004451	Q12884	SEPR_HUMAN			13	1346	-			380			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1138A>G	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	9.195	1.026935	0.19512	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.95788	-3.81;1.59	5.91	5.91	0.95273	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.108029	0.64402	D	0.000004	D	0.88651	0.6494	N	0.10760	0.04	0.43222	D	0.995104	B;B	0.12013	0.004;0.005	B;B	0.17098	0.017;0.01	D	0.84403	0.0561	10	0.34782	T	0.22	-20.9347	11.3939	0.49830	0.0:0.0699:0.0:0.9301	.	355;380	B4DLR2;Q12884	.;SEPR_HUMAN	V	380;355	ENSP00000188790:I380V;ENSP00000411391:I355V	ENSP00000188790:I380V	I	-	1	0	FAP	162767811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.112000	0.50368	2.263000	0.75096	0.528000	0.53228	ATC		0.348	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			5	26	0	0	0	0.000602	0	5	26				
SLC38A11	151258	broad.mit.edu	37	2	165765220	165765220	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:165765220A>T	ENST00000409149.3	-	10	1148	c.857T>A	c.(856-858)gTg>gAg	p.V286E	SLC38A11_ENST00000409058.1_Missense_Mutation_p.V317E|SLC38A11_ENST00000409662.1_Missense_Mutation_p.V286E|SLC38A11_ENST00000303735.4_Missense_Mutation_p.V264E|SLC38A11_ENST00000493887.1_5'Flank	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	286					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.V264E(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						GATGACCATCACTGTTACAAC	0.408																																							uc002ucv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(856-858)GTG>GAG		solute carrier family 38, member 11							89.0	81.0	84.0					2																	165765220		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165765220A>T		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.857T>A	2.37:g.165765220A>T	ENSP00000386272:p.Val286Glu					SLC38A11_uc002ucu.1_Missense_Mutation_p.V264E|SLC38A11_uc002ucw.1_Missense_Mutation_p.V286E	p.V286E	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN			12	1394	-			286			Helical; (Potential).		B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.857T>A	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447252	0.43429	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662;ENST00000424914	T;T;T;T;T	0.02656	4.21;4.21;4.21;4.21;4.21	5.73	3.27	0.37495	.	0.523251	0.21993	N	0.066135	T	0.06962	0.0177	L	0.59436	1.845	0.09310	N	1	P;P	0.49447	0.924;0.839	P;P	0.52267	0.694;0.568	T	0.09684	-1.0663	10	0.59425	D	0.04	-2.2753	9.0846	0.36572	0.8424:0.0:0.1576:0.0	.	286;264	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	E	264;286;317;286;107	ENSP00000306178:V264E;ENSP00000386272:V286E;ENSP00000387345:V317E;ENSP00000386774:V286E;ENSP00000401448:V107E	ENSP00000306178:V264E	V	-	2	0	SLC38A11	165473466	0.599000	0.26891	0.539000	0.28077	0.188000	0.23474	5.108000	0.64609	1.063000	0.40649	0.454000	0.30748	GTG		0.408	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		7	35	0	0	0	0.00308	0	7	35				
SCN3A	6328	broad.mit.edu	37	2	165956856	165956856	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:165956856C>T	ENST00000360093.3	-	22	4413	c.3922G>A	c.(3922-3924)Gct>Act	p.A1308T	SCN3A_ENST00000283254.7_Missense_Mutation_p.A1308T|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1259T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1308					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1259T(1)|p.A1308T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTCTTAAAGCTCTTAATGTC	0.378																																							uc002ucx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3922-3924)GCT>ACT		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						81.0	79.0	79.0					2																	165956856		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165956856C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3922G>A	2.37:g.165956856C>T	ENSP00000353206:p.Ala1308Thr					SCN3A_uc002ucy.2_Missense_Mutation_p.A1259T|SCN3A_uc002ucz.2_Missense_Mutation_p.A1259T|SCN3A_uc002uda.1_Missense_Mutation_p.A1128T|SCN3A_uc002udb.1_Missense_Mutation_p.A1128T	p.A1308T	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			22	4414	-			1308			Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3922G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.332100	0.81801	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.64402	D	0.000010	D	0.99093	0.9688	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.996;0.996;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.993;0.993;0.999	D	0.99690	1.1001	10	0.87932	D	0	.	19.4318	0.94772	0.0:1.0:0.0:0.0	.	1308;1259;1259;1259;1308	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	T	1308;1308;1259;1259	ENSP00000353206:A1308T;ENSP00000283254:A1308T;ENSP00000386726:A1259T;ENSP00000403348:A1259T	ENSP00000283254:A1308T	A	-	1	0	SCN3A	165665102	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	7.776000	0.85560	2.668000	0.90789	0.591000	0.81541	GCT		0.378	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		8	53	0	0	0	0.00308	0	8	53				
SCN2A	6326	broad.mit.edu	37	2	166245431	166245431	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:166245431C>A	ENST00000375437.2	+	27	5405	c.5115C>A	c.(5113-5115)atC>atA	p.I1705I	SCN2A_ENST00000357398.3_Silent_p.I1705I|SCN2A_ENST00000375427.2_Silent_p.I1705I|SCN2A_ENST00000283256.6_Silent_p.I1705I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1705					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1705I(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAGCATGATCTGCCTGTTCC	0.463																																							uc002udc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(5113-5115)ATC>ATA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						232.0	227.0	229.0					2																	166245431		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245431C>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5115C>A	2.37:g.166245431C>A						SCN2A_uc002udd.2_Silent_p.I1705I|SCN2A_uc002ude.2_Silent_p.I1705I	p.I1705I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	5405	+			1705			IV.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.5115C>A	CCDS33314.1																																																																																				0.463	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		27	131	1	0	7.26314e-15	0.007291	1.25745e-14	27	131				
TTC21B	79809	broad.mit.edu	37	2	166799738	166799738	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:166799738C>G	ENST00000243344.7	-	5	680	c.543G>C	c.(541-543)ctG>ctC	p.L181L	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	181					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.L181L(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCTTACCCAGCAGAGCAAAAG	0.348																																							uc002udk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(541-543)CTG>CTC		tetratricopeptide repeat domain 21B							125.0	118.0	121.0					2																	166799738		2203	4300	6503	SO:0001819	synonymous_variant	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166799738C>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.543G>C	2.37:g.166799738C>G						TTC21B_uc002udl.2_Silent_p.L181L|uc002udm.1_Intron	p.L181L	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			5	676	-			181			TPR 3.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	37	c.543G>C	CCDS33315.1																																																																																				0.348	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		4	30	0	0	0	0.001168	0	4	30				
SCN1A	6323	broad.mit.edu	37	2	166854551	166854551	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:166854551C>G	ENST00000303395.4	-	23	4472	c.4473G>C	c.(4471-4473)aaG>aaC	p.K1491N	SCN1A_ENST00000423058.2_Missense_Mutation_p.K1491N|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1463N|SCN1A_ENST00000375405.3_Missense_Mutation_p.K1480N			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1491					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.K1480N(1)|p.K1491N(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACTTATCTTCTTTTTCTGCT	0.318																																							uc010zcz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(4438-4440)AAG>AAC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						62.0	58.0	59.0					2																	166854551		2200	4293	6493	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166854551C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4473G>C	2.37:g.166854551C>G	ENSP00000303540:p.Lys1491Asn					SCN1A_uc002udo.3_Missense_Mutation_p.K1360N|SCN1A_uc010fpk.2_Missense_Mutation_p.K1332N	p.K1480N	NM_006920	NP_008851	P35498	SCN1A_HUMAN			23	4458	-			1491			III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4440G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069358	0.76301	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96619	-4.07;-4.07;-4.03;-4.01	5.15	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.97898	0.9309	M	0.86343	2.81	0.51767	D	0.999933	D;D;P	0.76494	0.999;0.998;0.589	D;D;B	0.80764	0.994;0.986;0.145	D	0.98018	1.0369	10	0.87932	D	0	.	9.9616	0.41699	0.0:0.8442:0.0:0.1558	.	1480;1463;1491	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	N	1491;1491;1480;1463	ENSP00000407030:K1491N;ENSP00000303540:K1491N;ENSP00000364554:K1480N;ENSP00000386312:K1463N	ENSP00000303540:K1491N	K	-	3	2	SCN1A	166562797	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.862000	0.56009	1.166000	0.42689	0.467000	0.42956	AAG		0.318	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		9	39	0	0	0	0.008291	0	9	39				
XIRP2	129446	broad.mit.edu	37	2	167992503	167992503	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:167992503G>T	ENST00000409728.1	+	3	582	c.493G>T	c.(493-495)Gac>Tac	p.D165Y	XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000409195.1_Missense_Mutation_p.D165Y|XIRP2_ENST00000420519.1_Missense_Mutation_p.D165Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.D165Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.D165Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.D165Y	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D165Y(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAGATTCAGACAAGAAAGG	0.428																																							uc002udx.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(493-495)GAC>TAC		xin actin-binding repeat containing 2 isoform 1							94.0	95.0	95.0					2																	167992503		1903	4125	6028	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167992503G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.493G>T	2.37:g.167992503G>T	ENSP00000386619:p.Asp165Tyr					XIRP2_uc010fpn.2_Missense_Mutation_p.D165Y|XIRP2_uc010fpo.2_Missense_Mutation_p.D165Y|XIRP2_uc010fpp.2_Missense_Mutation_p.D165Y|XIRP2_uc002udy.2_5'UTR	p.D165Y	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			2	511	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.493G>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868919	0.51588	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.86164	-1.66;-2.08;3.71;-1.66;-2.08;3.71	5.51	4.63	0.57726	.	.	.	.	.	D	0.91050	0.7184	.	.	.	0.25017	N	0.991365	D;D	0.59767	0.986;0.986	P;P	0.61592	0.891;0.891	D	0.83443	0.0044	8	0.66056	D	0.02	-7.4776	9.3532	0.38151	0.1758:0.0:0.8242:0.0	.	165;165	A4UGR9-4;A4UGR9-6	.;.	Y	165	ENSP00000386454:D165Y;ENSP00000386619:D165Y;ENSP00000386840:D165Y;ENSP00000386724:D165Y;ENSP00000415541:D165Y;ENSP00000295237:D165Y	ENSP00000295237:D165Y	D	+	1	0	XIRP2	167700749	0.994000	0.37717	1.000000	0.80357	0.806000	0.45545	3.219000	0.51200	1.337000	0.45525	0.591000	0.81541	GAC		0.428	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		14	48	1	0	2.32078e-09	0.003163	3.57952e-09	14	48				
XIRP2	129446	broad.mit.edu	37	2	168101996	168101996	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:168101996C>T	ENST00000409195.1	+	9	4183	c.4094C>T	c.(4093-4095)tCa>tTa	p.S1365L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1143L|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1365L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1190					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S1365L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTAATAAATCAGAAACTGTG	0.373																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(4093-4095)TCA>TTA		xin actin-binding repeat containing 2 isoform 1							66.0	61.0	63.0					2																	168101996		1843	4090	5933	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101996C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4094C>T	2.37:g.168101996C>T	ENSP00000386840:p.Ser1365Leu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1190L|XIRP2_uc010fpq.2_Missense_Mutation_p.S1143L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.S1365L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4112	+			1190					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4094C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601462	0.87055	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03124	4.04;4.04;4.04	5.78	4.9	0.64082	.	0.228608	0.38548	N	0.001646	T	0.11067	0.0270	M	0.73598	2.24	0.46798	D	0.999205	D;B;B	0.59767	0.986;0.169;0.169	P;B;B	0.50352	0.638;0.064;0.064	T	0.01720	-1.1288	10	0.54805	T	0.06	-1.9244	14.3608	0.66771	0.0:0.9282:0.0:0.0718	.	1190;1190;1143	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	1365;1365;1143	ENSP00000386840:S1365L;ENSP00000295237:S1365L;ENSP00000387255:S1143L	ENSP00000295237:S1365L	S	+	2	0	XIRP2	167810242	1.000000	0.71417	0.984000	0.44739	0.863000	0.49368	3.897000	0.56273	1.447000	0.47661	0.563000	0.77884	TCA		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	39	0	0	0	0.000602	0	5	39				
ABCB11	8647	broad.mit.edu	37	2	169781254	169781254	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:169781254G>T	ENST00000263817.6	-	27	3802	c.3678C>A	c.(3676-3678)cgC>cgA	p.R1226R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1226	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.R1226R(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CAATAGCAATGCGTTGTTTCT	0.398																																							uc002ueo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(3676-3678)CGC>CGA		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						101.0	101.0	101.0					2																	169781254		1868	4099	5967	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169781254G>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3678C>A	2.37:g.169781254G>T						ABCB11_uc010zda.1_Silent_p.R644R|ABCB11_uc010zdb.1_Silent_p.R702R	p.R1226R	NM_003742	NP_003733	O95342	ABCBB_HUMAN			27	3804	-			1226			Cytoplasmic (Potential).|ABC transporter 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.3678C>A	CCDS46444.1																																																																																				0.398	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		7	55	1	0	0.00198382	0.001984	0.00217995	7	55				
LRP2	4036	broad.mit.edu	37	2	170094714	170094714	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:170094714C>A	ENST00000263816.3	-	27	4678	c.4393G>T	c.(4393-4395)Ggt>Tgt	p.G1465C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1465					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)	p.G1465C(1)		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)"""	ATGTAAGAACCATTCTCGACC	0.418																																							uc002ues.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4393-4395)GGT>TGT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						118.0	106.0	110.0					2																	170094714		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.chr2:170094714C>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.4393G>T	2.37:g.170094714C>A	ENSP00000263816:p.Gly1465Cys						p.G1465C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	27	4606	-			1465			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4393G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714663	0.68730	.	.	ENSG00000081479	ENST00000263816	D	0.91740	-2.9	5.24	5.24	0.73138	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.055120	0.64402	D	0.000001	D	0.95940	0.8678	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.95879	0.8897	10	0.54805	T	0.06	.	18.8266	0.92122	0.0:1.0:0.0:0.0	.	1465	P98164	LRP2_HUMAN	C	1465	ENSP00000263816:G1465C	ENSP00000263816:G1465C	G	-	1	0	LRP2	169802960	1.000000	0.71417	0.966000	0.40874	0.498000	0.33706	7.294000	0.78760	2.445000	0.82738	0.655000	0.94253	GGT		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	48	1	0	0.000602214	0.000602	0.000682885	5	48				
MYO3B	140469	broad.mit.edu	37	2	171240296	171240296	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:171240296A>G	ENST00000408978.4	+	12	1405	c.1262A>G	c.(1261-1263)cAg>cGg	p.Q421R	MYO3B_ENST00000409044.3_Missense_Mutation_p.Q421R|MYO3B_ENST00000334231.6_Missense_Mutation_p.Q430R|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	421	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.Q421R(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCTGCTTACCAGTGCATGGTT	0.453																																							uc002ufy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(1261-1263)CAG>CGG		myosin IIIB isoform 2							126.0	118.0	120.0					2																	171240296		1977	4152	6129	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240296A>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1262A>G	2.37:g.171240296A>G	ENSP00000386213:p.Gln421Arg					MYO3B_uc002ufv.2_Missense_Mutation_p.Q408R|MYO3B_uc010fqb.1_Missense_Mutation_p.Q408R|MYO3B_uc002ufz.2_Missense_Mutation_p.Q421R|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.Q421R	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			12	1405	+			421			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1262A>G	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.740812	0.49151	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.9	5.9	0.94986	Myosin head, motor domain (2);	0.102280	0.64402	D	0.000002	T	0.78755	0.4333	N	0.14661	0.345	0.41271	D	0.986844	B;B;B	0.29481	0.245;0.003;0.091	B;B;B	0.36335	0.222;0.011;0.139	T	0.77943	-0.2398	10	0.49607	T	0.09	.	16.3155	0.82918	1.0:0.0:0.0:0.0	.	421;421;421	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	R	421;421;420;430;430	ENSP00000386497:Q421R;ENSP00000386213:Q421R;ENSP00000446237:Q430R;ENSP00000335100:Q430R	ENSP00000314213:Q420R	Q	+	2	0	MYO3B	170948542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.227000	0.72282	2.260000	0.74910	0.528000	0.53228	CAG		0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			8	48	0	0	0	0.004482	0	8	48				
TTN	7273	broad.mit.edu	37	2	179399169	179399169	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179399169C>T	ENST00000591111.1	-	308	97474	c.97250G>A	c.(97249-97251)aGg>aAg	p.R32417K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24993K|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25118K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31490K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25185K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34058K			Q8WZ42	TITIN_HUMAN	titin	32417	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.R25118K(1)|p.R31490K(1)|p.R25185K(1)|p.R31488K(1)|p.R24993K(1)		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)			GCGAGATTTCCTCTCTTTCAC	0.413																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	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.(94468-94470)AGG>AAG		titin isoform N2-A							133.0	134.0	134.0					2																	179399169		1942	4132	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399169C>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.97250G>A	2.37:g.179399169C>T	ENSP00000465570:p.Arg32417Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25185K|TTN_uc010zfi.1_Missense_Mutation_p.R25118K|TTN_uc010zfj.1_Missense_Mutation_p.R24993K	p.R31490K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94693	-			32417					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.94469G>A		.	.	.	.	.	.	.	.	.	.	C	15.01	2.705207	0.48412	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.33235	0.0856	N	0.12853	0.265	0.43678	D	0.996113	B;B;B;B	0.33512	0.259;0.259;0.259;0.415	B;B;B;B	0.36092	0.129;0.129;0.129;0.217	T	0.26326	-1.0106	9	0.87932	D	0	.	19.3087	0.94175	0.0:1.0:0.0:0.0	.	24993;25118;25185;32417	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31490;24993;25185;25118;24990	ENSP00000343764:R31490K;ENSP00000434586:R24993K;ENSP00000340554:R25185K;ENSP00000352154:R25118K	ENSP00000340554:R25185K	R	-	2	0	TTN	179107415	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.027000	0.70881	2.857000	0.98124	0.650000	0.86243	AGG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	63	0	0	0	0.006214	0	7	63				
TTN	7273	broad.mit.edu	37	2	179412653	179412653	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179412653T>A	ENST00000591111.1	-	289	89001	c.88777A>T	c.(88777-88779)Acc>Tcc	p.T29593S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T22169S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T22294S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T28666S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T22361S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T31234S			Q8WZ42	TITIN_HUMAN	titin	29593	Ig-like 135.				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)	p.T28666S(1)|p.T22169S(1)|p.T22294S(1)|p.T22361S(1)|p.T28664S(1)		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)			ACGTCAATGGTAAATGGGCTT	0.448																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	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.(85996-85998)ACC>TCC		titin isoform N2-A							76.0	71.0	73.0					2																	179412653		1972	4146	6118	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412653T>A	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.88777A>T	2.37:g.179412653T>A	ENSP00000465570:p.Thr29593Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T22361S|TTN_uc010zfi.1_Missense_Mutation_p.T22294S|TTN_uc010zfj.1_Missense_Mutation_p.T22169S	p.T28666S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	86220	-			29593					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.85996A>T		.	.	.	.	.	.	.	.	.	.	T	13.59	2.281268	0.40394	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.92	5.92	0.95590	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	0.39462	0.1079	N	0.21282	0.65	0.47737	D	0.999509	B;B;B;P	0.38420	0.37;0.37;0.37;0.63	B;B;B;B	0.38921	0.285;0.285;0.285;0.285	T	0.40664	-0.9551	9	0.87932	D	0	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	22169;22294;22361;29593	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28666;22169;22361;22294;22166	ENSP00000343764:T28666S;ENSP00000434586:T22169S;ENSP00000340554:T22361S;ENSP00000352154:T22294S	ENSP00000340554:T22361S	T	-	1	0	TTN	179120899	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.915000	0.56409	2.255000	0.74692	0.533000	0.62120	ACC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	23	0	0	0	0.004672	0	3	23				
TTN	7273	broad.mit.edu	37	2	179443726	179443726	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179443726G>T	ENST00000591111.1	-	270	63332	c.63108C>A	c.(63106-63108)acC>acA	p.T21036T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.T13612T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.T13737T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.T20109T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.T13804T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.T22677T			Q8WZ42	TITIN_HUMAN	titin	21036	Fibronectin type-III 52. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.T13737T(1)|p.T13804T(1)|p.T20109T(1)|p.T13612T(1)|p.T20107T(1)		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)			GGATATAGTTGGTGATTTCAG	0.478																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	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.(60325-60327)ACC>ACA		titin isoform N2-A							92.0	90.0	91.0					2																	179443726		1960	4142	6102	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443726G>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.63108C>A	2.37:g.179443726G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T13804T|TTN_uc010zfi.1_Silent_p.T13737T|TTN_uc010zfj.1_Silent_p.T13612T|uc002umv.1_5'UTR	p.T20109T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	60551	-			21036					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	Silent	SNP	ENST00000591111.1	37	c.60327C>A																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	38	1	0	0.000602214	0.000602	0.000682885	5	38				
TTN	7273	broad.mit.edu	37	2	179578693	179578693	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179578693C>A	ENST00000591111.1	-	90	25965	c.25741G>T	c.(25741-25743)Ggg>Tgg	p.G8581W	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7654W|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G8898W			Q8WZ42	TITIN_HUMAN	titin	12745	Ig-like 68.				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)	p.G7654W(1)		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)			CTGTATACCCCACTGTCACTC	0.428																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	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.(22960-22962)GGG>TGG		titin isoform N2-A							153.0	145.0	147.0					2																	179578693		1892	4125	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179578693C>A	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.25741G>T	2.37:g.179578693C>A	ENSP00000465570:p.Gly8581Trp					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4315W	p.G7654W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	23184	-			8581					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.22960G>T		.	.	.	.	.	.	.	.	.	.	C	16.75	3.210504	0.58343	.	.	ENSG00000155657	ENST00000342992	T	0.77877	-1.13	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93377	0.7888	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94850	0.8013	9	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	8581	Q8WZ42	TITIN_HUMAN	W	7654	ENSP00000343764:G7654W	ENSP00000343764:G7654W	G	-	1	0	TTN	179286938	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	17	1	0	0.000602214	0.000602	0.000682885	5	17				
TTN	7273	broad.mit.edu	37	2	179622489	179622489	+	Intron	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179622489C>A	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Silent_p.A3440A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.A3486A|TTN_ENST00000360870.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A3440A(1)		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)			CAGAAACCCTCGCATGAAATC	0.478																																							uc010zfi.1		NA																	1	Substitution - coding silent(1)		lung(1)	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.(10318-10320)GCG>GCT		titin isoform novex-1							115.0	114.0	114.0					2																	179622489		1878	4116	5994	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179622489C>A	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.10303+1221G>T	2.37:g.179622489C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.A3440A	NM_133432	NP_597676	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10544	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10320G>T																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	69	1	0	3.32936e-07	0.006122	4.67008e-07	19	69				
PDE1A	5136	broad.mit.edu	37	2	183129074	183129074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:183129074C>A	ENST00000410103.1	-	3	252	c.169G>T	c.(169-171)Gaa>Taa	p.E57*	PDE1A_ENST00000331935.6_Nonsense_Mutation_p.E57*|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000358139.2_Nonsense_Mutation_p.E57*|PDE1A_ENST00000435564.1_Nonsense_Mutation_p.E57*|PDE1A_ENST00000351439.5_Nonsense_Mutation_p.E41*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.E41*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.E57*	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	57					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E57*(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCCGCATATTCAATATTCTTC	0.373																																							uc002uos.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)	3						c.(169-171)GAA>TAA		phosphodiesterase 1A isoform 2							118.0	111.0	113.0					2																	183129074		2202	4300	6502	SO:0001587	stop_gained	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183129074C>A		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.169G>T	2.37:g.183129074C>A	ENSP00000387037:p.Glu57*					PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Nonsense_Mutation_p.E57*|PDE1A_uc010zfq.1_Nonsense_Mutation_p.E57*|PDE1A_uc002uor.2_Nonsense_Mutation_p.E41*|PDE1A_uc002uov.1_RNA	p.E57*	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		3	253	-			57					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Nonsense_Mutation	SNP	ENST00000410103.1	37	c.169G>T	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431675	0.96150	.	.	ENSG00000115252	ENST00000435564;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.8374	0.92168	0.0:1.0:0.0:0.0	.	.	.	.	X	57;41;57;41;57;57;57	.	ENSP00000331574:E57X	E	-	1	0	PDE1A	182837319	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.170000	0.77587	2.861000	0.98227	0.655000	0.94253	GAA		0.373	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			13	43	1	0	6.72482e-11	0.003163	1.08793e-10	13	43				
DNAJC10	54431	broad.mit.edu	37	2	183582903	183582903	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:183582903G>T	ENST00000264065.7	+	3	505	c.90G>T	c.(88-90)gtG>gtT	p.V30V	DNAJC10_ENST00000537515.1_Silent_p.V30V|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	30					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCATTTTAGTGGGCACAGATC	0.358																																					Pancreas(56;860 1183 25669 35822 48585)	Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(88-90)GTG>GTT		DnaJ (Hsp40) homolog, subfamily C, member 10							105.0	109.0	107.0					2																	183582903		2203	4300	6503	SO:0001819	synonymous_variant	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183582903G>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.90G>T	2.37:g.183582903G>T						DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Silent_p.V30V|DNAJC10_uc010fro.1_RNA	p.V30V	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		3	505	+			30					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	c.90G>T	CCDS33345.1																																																																																				0.358	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		7	46	1	0	1.06961e-07	0.00308	1.54041e-07	7	46				
DNAJC10	54431	broad.mit.edu	37	2	183622484	183622484	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:183622484G>A	ENST00000264065.7	+	19	2290	c.1875G>A	c.(1873-1875)caG>caA	p.Q625Q		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	625	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.Q625Q(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTGTGCCCAGGAAAACGTTC	0.333																																					Pancreas(56;860 1183 25669 35822 48585)	Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(1873-1875)CAG>CAA		DnaJ (Hsp40) homolog, subfamily C, member 10							84.0	89.0	88.0					2																	183622484		2203	4300	6503	SO:0001819	synonymous_variant	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183622484G>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1875G>A	2.37:g.183622484G>A						DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Silent_p.Q579Q|DNAJC10_uc010fro.1_RNA	p.Q625Q	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		19	2290	+			625			Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	c.1875G>A	CCDS33345.1																																																																																				0.333	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		12	37	0	0	0	0.000978	0	12	37				
ZNF804A	91752	broad.mit.edu	37	2	185801171	185801171	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:185801171G>A	ENST00000302277.6	+	4	1642	c.1048G>A	c.(1048-1050)Ggt>Agt	p.G350S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	350							metal ion binding (GO:0046872)	p.G350S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACCTGTTAGTGGTAACAGTTT	0.348																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1048-1050)GGT>AGT		zinc finger protein 804A							53.0	49.0	51.0					2																	185801171		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801171G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1048G>A	2.37:g.185801171G>A	ENSP00000303252:p.Gly350Ser						p.G350S	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1642	+			350					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1048G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	2.520	-0.311022	0.05458	.	.	ENSG00000170396	ENST00000302277	T	0.50277	0.75	5.57	-1.51	0.08664	.	1.787000	0.02745	N	0.116819	T	0.31358	0.0794	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.03840	-1.0999	10	0.13108	T	0.6	0.2375	1.0418	0.01560	0.3769:0.0974:0.1821:0.3436	.	350	Q7Z570	Z804A_HUMAN	S	350	ENSP00000303252:G350S	ENSP00000303252:G350S	G	+	1	0	ZNF804A	185509416	0.000000	0.05858	0.000000	0.03702	0.860000	0.49131	-0.280000	0.08468	-0.144000	0.11314	0.591000	0.81541	GGT		0.348	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		9	37	0	0	0	0.008291	0	9	37				
COL3A1	1281	broad.mit.edu	37	2	189876477	189876477	+	Missense_Mutation	SNP	G	G	T	rs561556753		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:189876477G>T	ENST00000304636.3	+	51	4548	c.4378G>T	c.(4378-4380)Gtt>Ttt	p.V1460F	COL3A1_ENST00000317840.5_Missense_Mutation_p.V1157F	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1460	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.V1460F(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGGTGTGGACGTTGGCCCTGT	0.388																																							uc002uqj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(4378-4380)GTT>TTT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						220.0	198.0	205.0					2																	189876477		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189876477G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4378G>T	2.37:g.189876477G>T	ENSP00000304408:p.Val1460Phe						p.V1460F	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		51	4495	+			1460			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.4378G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232944	0.58777	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.76186	-1.0;-1.0	5.7	-6.58	0.01836	Fibrillar collagen, C-terminal (4);	0.515520	0.17145	N	0.185295	T	0.76637	0.4015	M	0.67953	2.075	0.24216	N	0.995456	P	0.51147	0.942	P	0.52267	0.694	T	0.76141	-0.3068	10	0.56958	D	0.05	.	17.7848	0.88534	0.3716:0.0:0.6284:0.0	.	1460	P02461	CO3A1_HUMAN	F	1460;1157	ENSP00000304408:V1460F;ENSP00000315243:V1157F	ENSP00000304408:V1460F	V	+	1	0	COL3A1	189584722	0.057000	0.20700	0.754000	0.31244	0.993000	0.82548	-0.274000	0.08537	-1.591000	0.01621	-0.229000	0.12294	GTT		0.388	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		8	52	1	0	0.000442599	0.006214	0.000512261	8	52				
MYO1B	4430	broad.mit.edu	37	2	192288625	192288625	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:192288625A>C	ENST00000392318.3	+	31	3597	c.3350A>C	c.(3349-3351)aAt>aCt	p.N1117T	MYO1B_ENST00000392316.1_Missense_Mutation_p.N1088T|MYO1B_ENST00000439065.2_Missense_Mutation_p.N362T|MYO1B_ENST00000304164.4_Missense_Mutation_p.N1117T|MYO1B_ENST00000339514.4_Missense_Mutation_p.N1059T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1117	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.N1117T(1)|p.N1059T(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AACCAGAAAAATGGGAGTGTC	0.403																																							uc010fsg.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(3349-3351)AAT>ACT		myosin IB isoform 1							157.0	159.0	158.0					2																	192288625		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192288625A>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3350A>C	2.37:g.192288625A>C	ENSP00000376132:p.Asn1117Thr					MYO1B_uc002usq.2_Missense_Mutation_p.N1059T|MYO1B_uc002usr.2_Missense_Mutation_p.N1117T|MYO1B_uc002usu.2_Missense_Mutation_p.N362T|MYO1B_uc002usv.2_Missense_Mutation_p.N233T	p.N1117T	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		31	3605	+			1117					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.3350A>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909475	0.72868	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.78	5.78	0.91487	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.40543	1.245	0.58432	D	0.999995	D;P;P	0.76494	0.999;0.908;0.762	D;P;B	0.85130	0.997;0.577;0.255	T	0.31336	-0.9947	10	0.11485	T	0.65	.	14.6915	0.69091	1.0:0.0:0.0:0.0	.	362;1117;1059	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	T	1059;1117;1117;1088;362	ENSP00000341903:N1059T;ENSP00000376132:N1117T;ENSP00000306382:N1117T;ENSP00000376130:N1088T;ENSP00000391442:N362T	ENSP00000306382:N1117T	N	+	2	0	MYO1B	191996870	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.445000	0.90326	2.205000	0.71048	0.533000	0.62120	AAT		0.403	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		16	109	0	0	0	0.004007	0	16	109				
HECW2	57520	broad.mit.edu	37	2	197185132	197185132	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:197185132T>A	ENST00000260983.3	-	8	1098	c.916A>T	c.(916-918)Agg>Tgg	p.R306W	HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	306					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R306W(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTGGGAGCCTTCTGCCAAGG	0.463																																							uc002utm.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(916-918)AGG>TGG		HECT, C2 and WW domain containing E3 ubiquitin							74.0	73.0	73.0					2																	197185132		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197185132T>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.916A>T	2.37:g.197185132T>A	ENSP00000260983:p.Arg306Trp					HECW2_uc002utl.1_Intron	p.R306W	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			8	1099	-			306					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.916A>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215062	0.79352	.	.	ENSG00000138411	ENST00000260983	T	0.47528	0.84	5.1	3.93	0.45458	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.56426	0.1984	L	0.36672	1.1	0.50039	D	0.999844	D	0.76494	0.999	D	0.79784	0.993	T	0.58081	-0.7699	9	0.87932	D	0	.	11.1161	0.48262	0.0:0.0:0.154:0.846	.	306	Q9P2P5	HECW2_HUMAN	W	306	ENSP00000260983:R306W	ENSP00000260983:R306W	R	-	1	2	HECW2	196893377	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.011000	0.57124	0.921000	0.36994	0.459000	0.35465	AGG		0.463	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		7	19	0	0	0	0.00308	0	7	19				
NIF3L1	60491	broad.mit.edu	37	2	201758087	201758087	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:201758087A>T	ENST00000409020.1	+	3	849	c.555A>T	c.(553-555)gcA>gcT	p.A185A	NIF3L1_ENST00000359683.4_Silent_p.A158A|NIF3L1_ENST00000416651.1_Silent_p.A185A|NIF3L1_ENST00000409357.1_Silent_p.A185A|NIF3L1_ENST00000409588.1_Silent_p.A185A			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	185					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.A185A(1)|p.A158A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TCATGTCTGCAGTGAAAGGAA	0.398																																							uc002uwm.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(553-555)GCA>GCT		NIF3 NGG1 interacting factor 3-like 1 isoform 1							129.0	121.0	124.0					2																	201758087		1860	4101	5961	SO:0001819	synonymous_variant	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201758087A>T	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.555A>T	2.37:g.201758087A>T						NIF3L1_uc002uwl.2_Silent_p.A158A|NIF3L1_uc002uwn.2_Silent_p.A158A|NIF3L1_uc002uwo.2_Silent_p.A185A|NIF3L1_uc002uwp.2_Silent_p.A185A|NIF3L1_uc002uwq.2_Silent_p.A185A	p.A185A	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			3	646	+			185					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Silent	SNP	ENST00000409020.1	37	c.555A>T	CCDS46485.1																																																																																				0.398	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		11	79	0	0	0	0.001368	0	11	79				
TRAK2	66008	broad.mit.edu	37	2	202245493	202245493	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:202245493T>A	ENST00000332624.3	-	16	2946	c.2518A>T	c.(2518-2520)Aga>Tga	p.R840*		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	840					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.R840*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATCCCCAGTCTCTTCAGCCTG	0.512																																							uc002uyb.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(2518-2520)AGA>TGA		trafficking protein, kinesin binding 2							78.0	83.0	81.0					2																	202245493		2203	4300	6503	SO:0001587	stop_gained	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202245493T>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2518A>T	2.37:g.202245493T>A	ENSP00000328875:p.Arg840*						p.R840*	NM_015049	NP_055864	O60296	TRAK2_HUMAN			16	2964	-			840	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Nonsense_Mutation	SNP	ENST00000332624.3	37	c.2518A>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	T	43	10.133040	0.99344	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	.	.	.	5.93	4.77	0.60923	.	0.056142	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3971	0.60861	0.0:0.0:0.1313:0.8687	.	.	.	.	X	840;746	.	ENSP00000328875:R840X	R	-	1	2	TRAK2	201953738	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.978000	0.40598	1.049000	0.40321	0.482000	0.46254	AGA		0.512	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		14	57	0	0	0	0.00245	0	14	57				
PARD3B	117583	broad.mit.edu	37	2	206364738	206364738	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:206364738G>T	ENST00000406610.2	+	21	3370	c.3163G>T	c.(3163-3165)Gag>Tag	p.E1055*	PARD3B_ENST00000349953.3_Nonsense_Mutation_p.E954*|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.E993*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.E986*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1055					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.E993*(1)|p.E986*(1)|p.E994*(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGCCATCTGAGTATGACCT	0.438																																							uc002var.1		NA																	3	Substitution - Nonsense(3)		lung(3)	skin(2)|ovary(1)|breast(1)	4						c.(3163-3165)GAG>TAG		par-3 partitioning defective 3 homolog B isoform							215.0	196.0	202.0					2																	206364738		1925	4124	6049	SO:0001587	stop_gained	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206364738G>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3163G>T	2.37:g.206364738G>T	ENSP00000385848:p.Glu1055*					PARD3B_uc002vao.1_Nonsense_Mutation_p.E954*|PARD3B_uc002vap.1_Nonsense_Mutation_p.E993*|PARD3B_uc002vaq.1_Nonsense_Mutation_p.E986*	p.E1055*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	21	3370	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1055					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Nonsense_Mutation	SNP	ENST00000406610.2	37	c.3163G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.058311	0.98032	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.59	5.59	0.84812	.	0.228662	0.30791	N	0.008880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	18.9473	0.92626	0.0:0.0:1.0:0.0	.	.	.	.	X	1055;993;986;954	.	ENSP00000340280:E954X	E	+	1	0	PARD3B	206072983	1.000000	0.71417	0.992000	0.48379	0.127000	0.20565	6.722000	0.74735	2.797000	0.96272	0.563000	0.77884	GAG		0.438	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		18	93	1	0	1.55795e-14	0.001882	2.68129e-14	18	93				
AC010731.3	0	broad.mit.edu	37	2	207508998	207508998	+	RNA	SNP	C	C	T	rs538257401		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:207508998C>T	ENST00000415029.1	+	0	1132				AC010731.4_ENST00000543490.1_lincRNA																							ATCCACCGCCCCTTGAGCTTC	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20707	0.001		0.0	False		,,,				2504	0.0						uc010fuh.1		NA																	0					0						c.(37-39)CCC>CTC		hypothetical protein LOC200726							50.0	53.0	52.0					2																	207508998		2032	4169	6201			200726							g.chr2:207508998C>T																													2.37:g.207508998C>T							p.P13L	NM_001102659	NP_001096129				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)	2	213	+									Missense_Mutation	SNP	ENST00000415029.1	37	c.38C>T																																																																																					0.522	AC010731.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000336805.1			4	15	0	0	0	0.009096	0	4	15				
DYTN	391475	broad.mit.edu	37	2	207572137	207572137	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:207572137A>T	ENST00000452335.2	-	3	301	c.185T>A	c.(184-186)cTt>cAt	p.L62H	DYTN_ENST00000477734.1_5'Flank	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	62						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L62H(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGCCTGAGAAAGTTGCTGCAC	0.537																																							uc002vbr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(184-186)CTT>CAT		dystrotelin							63.0	61.0	62.0					2																	207572137		1906	4135	6041	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207572137A>T	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.185T>A	2.37:g.207572137A>T	ENSP00000396593:p.Leu62His						p.L62H	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	3	302	-			62						Missense_Mutation	SNP	ENST00000452335.2	37	c.185T>A	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566110	0.45694	.	.	ENSG00000232125	ENST00000452335	T	0.68479	-0.33	4.87	4.87	0.63330	EF-hand domain, type 1 (1);	.	.	.	.	T	0.70911	0.3278	N	0.24115	0.695	0.33051	D	0.532718	D	0.89917	1.0	D	0.77557	0.99	T	0.78326	-0.2247	9	0.87932	D	0	-2.244	13.5001	0.61449	1.0:0.0:0.0:0.0	.	62	A2CJ06	DYTN_HUMAN	H	62	ENSP00000396593:L62H	ENSP00000396593:L62H	L	-	2	0	DYTN	207280382	1.000000	0.71417	0.744000	0.31058	0.049000	0.14656	5.775000	0.68915	2.159000	0.67721	0.533000	0.62120	CTT		0.537	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			4	5	0	0	0	0.009096	0	4	5				
CPS1	1373	broad.mit.edu	37	2	211464127	211464127	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:211464127C>G	ENST00000233072.5	+	14	1587	c.1391C>G	c.(1390-1392)cCa>cGa	p.P464R	CPS1_ENST00000430249.2_Missense_Mutation_p.P470R|CPS1_ENST00000451903.2_Missense_Mutation_p.P13R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	464					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.P464R(1)|p.P470R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTGATGAACCCAAACATTGCA	0.398																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1390-1392)CCA>CGA		carbamoyl-phosphate synthetase 1 isoform b							124.0	114.0	118.0					2																	211464127		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211464127C>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1391C>G	2.37:g.211464127C>G	ENSP00000233072:p.Pro464Arg					CPS1_uc010fur.2_Missense_Mutation_p.P470R|CPS1_uc010fus.2_Missense_Mutation_p.P13R	p.P464R	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	14	1523	+			464					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1391C>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593522	0.86953	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125;ENST00000451903	D;D;D	0.97404	-4.37;-4.37;-4.37	5.27	5.27	0.74061	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99177	1.0866	10	0.87932	D	0	-1.9314	19.2501	0.93921	0.0:1.0:0.0:0.0	.	474;464	Q59HF8;P31327	.;CPSM_HUMAN	R	470;472;464;464;13	ENSP00000402608:P470R;ENSP00000233072:P464R;ENSP00000406136:P13R	ENSP00000233072:P464R	P	+	2	0	CPS1	211172372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.358000	0.79466	2.636000	0.89361	0.455000	0.32223	CCA		0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			14	56	0	0	0	0.004007	0	14	56				
CPS1	1373	broad.mit.edu	37	2	211513207	211513207	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:211513207T>C	ENST00000233072.5	+	27	3543	c.3347T>C	c.(3346-3348)cTg>cCg	p.L1116P	CPS1_ENST00000430249.2_Missense_Mutation_p.L1122P|CPS1_ENST00000451903.2_Missense_Mutation_p.L665P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1116	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L1122P(1)|p.L1116P(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AATGAAGCACTGGAATTTGCA	0.333																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3346-3348)CTG>CCG		carbamoyl-phosphate synthetase 1 isoform b							142.0	137.0	138.0					2																	211513207		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211513207T>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3347T>C	2.37:g.211513207T>C	ENSP00000233072:p.Leu1116Pro					CPS1_uc010fur.2_Missense_Mutation_p.L1122P|CPS1_uc010fus.2_Missense_Mutation_p.L665P	p.L1116P	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	27	3479	+			1116			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3347T>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283837	0.59867	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97731	-4.51;-4.51;-4.51	6.17	6.17	0.99709	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.258966	0.38897	N	0.001523	D	0.98931	0.9637	H	0.95712	3.71	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.60789	0.879;0.879	D	0.99917	1.1230	10	0.27785	T	0.31	-6.7961	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1126;1116	Q59HF8;P31327	.;CPSM_HUMAN	P	1122;1124;1116;665	ENSP00000402608:L1122P;ENSP00000233072:L1116P;ENSP00000406136:L665P	ENSP00000233072:L1116P	L	+	2	0	CPS1	211221452	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	6.932000	0.75869	2.371000	0.80710	0.533000	0.62120	CTG		0.333	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			8	46	0	0	0	0.006214	0	8	46				
ERBB4	2066	broad.mit.edu	37	2	212251644	212251644	+	Silent	SNP	G	G	T	rs368679346		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:212251644G>T	ENST00000342788.4	-	27	3725	c.3415C>A	c.(3415-3417)Cgg>Agg	p.R1139R	ERBB4_ENST00000436443.1_Silent_p.R1123R|ERBB4_ENST00000402597.1_Silent_p.R1129R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1139					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1139R(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CGTGGGCTCCGTTCTGGGGCA	0.537										TSP Lung(8;0.080)																													uc002veg.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3415-3417)CGG>AGG		v-erb-a erythroblastic leukemia viral oncogene							154.0	140.0	144.0					2																	212251644		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251644G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3415C>A	2.37:g.212251644G>T		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.R1123R|ERBB4_uc010zji.1_Silent_p.R1129R|ERBB4_uc010zjj.1_Silent_p.R1113R	p.R1139R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3513	-		Renal(323;0.06)|Lung NSC(271;0.197)	1139			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.3415C>A	CCDS2394.1																																																																																				0.537	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		12	47	1	0	6.40141e-05	0.000978	7.85211e-05	12	47				
SPAG16	79582	broad.mit.edu	37	2	214204937	214204937	+	Missense_Mutation	SNP	G	G	T	rs201426260		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:214204937G>T	ENST00000331683.5	+	6	682	c.587G>T	c.(586-588)cGa>cTa	p.R196L	SPAG16_ENST00000413312.1_Missense_Mutation_p.R165L|SPAG16_ENST00000272898.7_Missense_Mutation_p.R196L|SPAG16_ENST00000447990.1_Missense_Mutation_p.R196L|SPAG16_ENST00000374309.3_Missense_Mutation_p.R102L|SPAG16_ENST00000414961.2_3'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	196					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R196L(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATTTTCATCGAATGCATCAT	0.284																																							uc002veq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(586-588)CGA>CTA		sperm associated antigen 16 isoform 1							39.0	41.0	40.0					2																	214204937		2203	4296	6499	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214204937G>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.587G>T	2.37:g.214204937G>T	ENSP00000332592:p.Arg196Leu					SPAG16_uc010fuz.1_Missense_Mutation_p.R47L|SPAG16_uc002ver.2_Missense_Mutation_p.R142L|SPAG16_uc010zjk.1_Missense_Mutation_p.R102L|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.R165L	p.R196L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	6	679	+		Renal(323;0.00461)	196			Potential.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.587G>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462823	0.84425	.	.	ENSG00000144451	ENST00000331683;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.64260	-0.09;-0.06	5.96	5.96	0.96718	.	0.136610	0.46145	D	0.000306	T	0.75125	0.3807	M	0.63843	1.955	0.43342	D	0.995396	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.992;0.998	D;D;D;P;D	0.97110	0.947;1.0;0.999;0.842;0.947	T	0.76526	-0.2927	10	0.87932	D	0	.	11.211	0.48797	0.0823:0.0:0.9177:0.0	.	102;47;165;136;196	B4DYB5;Q8N0X2-2;Q8N0X2-3;Q4G1A2;Q8N0X2	.;.;.;.;SPG16_HUMAN	L	196;165;196;196;102	ENSP00000332592:R196L;ENSP00000363428:R102L	ENSP00000272898:R196L	R	+	2	0	SPAG16	213913182	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.369000	0.52365	2.832000	0.97577	0.655000	0.94253	CGA		0.284	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		5	32	1	0	3.59834e-05	0.001168	4.49329e-05	5	32				
ABCA12	26154	broad.mit.edu	37	2	215914396	215914396	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:215914396G>C	ENST00000272895.7	-	6	866	c.647C>G	c.(646-648)aCc>aGc	p.T216S		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	216					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.T216S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTAAAAGGGTCATGTTAGA	0.373																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(646-648)ACC>AGC		ATP-binding cassette, sub-family A, member 12							85.0	83.0	84.0					2																	215914396		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215914396G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.647C>G	2.37:g.215914396G>C	ENSP00000272895:p.Thr216Ser					ABCA12_uc010zjn.1_5'UTR	p.T216S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	6	867	-		Renal(323;0.127)	216					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.647C>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624972	0.28889	.	.	ENSG00000144452	ENST00000272895	D	0.88586	-2.4	6.05	6.05	0.98169	.	0.177500	0.40144	N	0.001176	T	0.80460	0.4627	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74054	-0.3788	10	0.14656	T	0.56	.	17.5254	0.87799	0.0:0.0:1.0:0.0	.	216	Q86UK0	ABCAC_HUMAN	S	216	ENSP00000272895:T216S	ENSP00000272895:T216S	T	-	2	0	ABCA12	215622641	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.305000	0.65750	2.880000	0.98712	0.655000	0.94253	ACC		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		8	32	0	0	0	0.004482	0	8	32				
FN1	2335	broad.mit.edu	37	2	216272915	216272915	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:216272915C>T	ENST00000359671.1	-	17	2699	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	FN1_ENST00000421182.1_Missense_Mutation_p.D812N|FN1_ENST00000432072.2_Missense_Mutation_p.D812N|FN1_ENST00000357009.2_Missense_Mutation_p.D812N|FN1_ENST00000357867.4_Missense_Mutation_p.D812N|FN1_ENST00000446046.1_Missense_Mutation_p.D812N|FN1_ENST00000345488.5_Missense_Mutation_p.D812N|FN1_ENST00000323926.6_Missense_Mutation_p.D812N|FN1_ENST00000443816.1_Missense_Mutation_p.D812N|FN1_ENST00000354785.4_Missense_Mutation_p.D812N|FN1_ENST00000346544.3_Missense_Mutation_p.D812N|FN1_ENST00000356005.4_Missense_Mutation_p.D812N|FN1_ENST00000336916.4_Missense_Mutation_p.D812N			P02751	FINC_HUMAN	fibronectin 1	812	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.D812N(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGAGGGGCATCAGGCGCTAAG	0.493																																							uc002vfa.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(2434-2436)GAT>AAT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						70.0	74.0	73.0					2																	216272915		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216272915C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2434G>A	2.37:g.216272915C>T	ENSP00000352696:p.Asp812Asn					FN1_uc002vfb.2_Missense_Mutation_p.D812N|FN1_uc002vfc.2_Missense_Mutation_p.D812N|FN1_uc002vfd.2_Missense_Mutation_p.D812N|FN1_uc002vfe.2_Missense_Mutation_p.D812N|FN1_uc002vff.2_Missense_Mutation_p.D812N|FN1_uc002vfg.2_Missense_Mutation_p.D812N|FN1_uc002vfh.2_Missense_Mutation_p.D812N|FN1_uc002vfi.2_Missense_Mutation_p.D812N|FN1_uc002vfj.2_Missense_Mutation_p.D812N	p.D812N	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	17	2700	-		Renal(323;0.127)	812			Fibronectin type-III 3.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2434G>A		.	.	.	.	.	.	.	.	.	.	C	23.0	4.366994	0.82463	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.83073	0.5175	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.98;1.0;0.999;1.0;0.999;1.0;1.0;0.999	D;D;P;D;D;D;D;D;D;D	0.87578	0.997;0.991;0.674;0.998;0.996;0.994;0.998;0.998;0.998;0.997	D	0.86047	0.1523	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	812;812;812;812;812;812;812;812;812;812	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	N	812	ENSP00000394423:D812N;ENSP00000323534:D812N;ENSP00000338200:D812N;ENSP00000350534:D812N;ENSP00000346839:D812N;ENSP00000352696:D812N;ENSP00000265312:D812N;ENSP00000273049:D812N;ENSP00000349509:D812N;ENSP00000410422:D812N;ENSP00000415018:D812N;ENSP00000399538:D812N;ENSP00000348285:D812N	ENSP00000265313:D812N	D	-	1	0	FN1	215981160	1.000000	0.71417	0.957000	0.39632	0.142000	0.21351	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GAT		0.493	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		10	33	0	0	0	0.006214	0	10	33				
XRCC5	7520	broad.mit.edu	37	2	217069067	217069067	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:217069067C>G	ENST00000392133.3	+	22	2593	c.2132C>G	c.(2131-2133)cCa>cGa	p.P711R	XRCC5_ENST00000392132.2_Missense_Mutation_p.P711R			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	711					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.P711R(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAAGACAAACCAAGTGGAGAC	0.403								Non-homologous end-joining																															uc002vfy.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(2131-2133)CCA>CGA	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II							143.0	138.0	139.0					2																	217069067		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:217069067C>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.2132C>G	2.37:g.217069067C>G	ENSP00000375978:p.Pro711Arg					XRCC5_uc002vfz.2_Missense_Mutation_p.P597R	p.P711R	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	20	2272	+		Renal(323;0.0328)	711					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.2132C>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	C	9.875	1.199928	0.22121	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.31510	1.49;1.49	5.64	4.74	0.60224	.	0.462231	0.24443	N	0.038489	T	0.25232	0.0613	L	0.54323	1.7	0.09310	N	1	B	0.32781	0.384	B	0.24701	0.055	T	0.15925	-1.0420	10	0.33940	T	0.23	.	9.1914	0.37202	0.166:0.6741:0.1599:0.0	.	711	P13010	XRCC5_HUMAN	R	711	ENSP00000375978:P711R;ENSP00000375977:P711R	ENSP00000375977:P711R	P	+	2	0	XRCC5	216777312	0.199000	0.23386	0.010000	0.14722	0.450000	0.32258	1.741000	0.38238	1.583000	0.49898	0.650000	0.86243	CCA		0.403	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		11	52	0	0	0	0.003163	0	11	52				
CXCR2	3579	broad.mit.edu	37	2	219000380	219000380	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:219000380T>C	ENST00000318507.2	+	3	1283	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	286					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.C286R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGGAGACCTGTGAGCGCCG	0.592																																							uc002vgz.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(856-858)TGT>CGT		interleukin 8 receptor beta							84.0	79.0	81.0					2																	219000380		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000380T>C	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.856T>C	2.37:g.219000380T>C	ENSP00000319635:p.Cys286Arg					CXCR2_uc002vha.1_Missense_Mutation_p.C286R|CXCR2_uc002vhb.1_Missense_Mutation_p.C286R	p.C286R	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	1081	+			286			Extracellular (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.856T>C	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223990	0.39300	.	.	ENSG00000180871	ENST00000318507	T	0.37915	1.17	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78513	-0.2175	9	.	.	.	.	14.3818	0.66916	0.0:0.0:0.0:1.0	.	286	P25025	CXCR2_HUMAN	R	286	ENSP00000319635:C286R	.	C	+	1	0	CXCR2	218708625	0.998000	0.40836	0.996000	0.52242	0.062000	0.15995	2.762000	0.47597	2.045000	0.60652	0.374000	0.22700	TGT		0.592	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		11	62	0	0	0	0.000978	0	11	62				
SPEG	10290	broad.mit.edu	37	2	220354469	220354469	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:220354469C>A	ENST00000312358.7	+	36	8861	c.8729C>A	c.(8728-8730)cCa>cAa	p.P2910Q	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2910	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P2910Q(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGTCTGCACCACCAGCCCCT	0.622																																							uc010fwg.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8728-8730)CCA>CAA		SPEG complex locus							90.0	92.0	92.0					2																	220354469		1919	4125	6044	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220354469C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8729C>A	2.37:g.220354469C>A	ENSP00000311684:p.Pro2910Gln						p.P2910Q	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	36	8729	+		Renal(207;0.0183)	2910			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8729C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757567	0.31137	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.69040	-0.37	4.61	4.61	0.57282	.	0.000000	0.40554	N	0.001074	T	0.59729	0.2215	N	0.19112	0.55	0.80722	D	1	D	0.61080	0.989	P	0.50708	0.648	T	0.60000	-0.7348	10	0.34782	T	0.22	.	14.3611	0.66771	0.0:1.0:0.0:0.0	.	2910	Q15772	SPEG_HUMAN	Q	2910	ENSP00000311684:P2910Q	ENSP00000265327:P2910Q	P	+	2	0	SPEG	220062713	0.866000	0.29940	0.998000	0.56505	0.293000	0.27360	3.289000	0.51747	2.406000	0.81754	0.456000	0.33151	CCA		0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		17	55	1	0	1.15088e-07	0.004007	1.64282e-07	17	55				
SPEG	10290	broad.mit.edu	37	2	220354645	220354645	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:220354645C>A	ENST00000312358.7	+	36	9037	c.8905C>A	c.(8905-8907)Ctg>Atg	p.L2969M	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2969	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L2969M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTACACCTTCCTGGAGGAGAA	0.612																																							uc010fwg.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8905-8907)CTG>ATG		SPEG complex locus							27.0	29.0	28.0					2																	220354645		1921	4119	6040	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220354645C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8905C>A	2.37:g.220354645C>A	ENSP00000311684:p.Leu2969Met						p.L2969M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	36	8905	+		Renal(207;0.0183)	2969			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8905C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615605	0.28801	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.46063	0.88	5.0	4.12	0.48240	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.151590	0.06955	N	0.815368	T	0.55081	0.1898	M	0.62209	1.925	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.38779	-0.9645	10	0.39692	T	0.17	.	6.5779	0.22577	0.0:0.6835:0.0:0.3165	.	2969	Q15772	SPEG_HUMAN	M	2969	ENSP00000311684:L2969M	ENSP00000265327:L2969M	L	+	1	2	SPEG	220062889	0.984000	0.35163	1.000000	0.80357	0.975000	0.68041	0.192000	0.17096	1.114000	0.41781	0.558000	0.71614	CTG		0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		8	17	1	0	0.000673444	0.008291	0.000757755	8	17				
SLC4A3	6508	broad.mit.edu	37	2	220493218	220493218	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:220493218G>C	ENST00000358055.3	+	3	655	c.143G>C	c.(142-144)gGg>gCg	p.G48A	AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G48A|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G48A|SLC4A3_ENST00000373762.3_Missense_Mutation_p.G48A|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G48A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	48					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.G48A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGGTTTGGGGACCTCATC	0.657																																							uc002vmp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(142-144)GGG>GCG		solute carrier family 4, anion exchanger, member							54.0	57.0	56.0					2																	220493218		2203	4299	6502	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220493218G>C		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.143G>C	2.37:g.220493218G>C	ENSP00000350756:p.Gly48Ala					SLC4A3_uc002vmn.2_Missense_Mutation_p.G48A|SLC4A3_uc002vmo.3_Missense_Mutation_p.G48A|SLC4A3_uc010fwm.2_5'UTR	p.G48A	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	412	+		Renal(207;0.0183)	48			Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.143G>C	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791306	0.70452	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.74106	-0.74;-0.74;-0.81;-0.81;-0.74	3.7	3.7	0.42460	.	0.307559	0.30401	N	0.009714	T	0.80824	0.4697	L	0.48642	1.525	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;D	0.83275	0.992;0.996	T	0.80367	-0.1412	10	0.40728	T	0.16	.	13.8052	0.63225	0.0:0.0:1.0:0.0	.	48;48	P48751;P48751-3	B3A3_HUMAN;.	A	48	ENSP00000350756:G48A;ENSP00000362865:G48A;ENSP00000273063:G48A;ENSP00000362867:G48A;ENSP00000314006:G48A	ENSP00000273063:G48A	G	+	2	0	SLC4A3	220201462	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.532000	0.53553	1.892000	0.54788	0.313000	0.20887	GGG		0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		6	24	0	0	0	0.001168	0	6	24				
SPHKAP	80309	broad.mit.edu	37	2	228882377	228882377	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:228882377G>T	ENST00000392056.3	-	7	3239	c.3193C>A	c.(3193-3195)Ccc>Acc	p.P1065T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1065T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1065						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P1065T(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGATTCCGGGGATAGCCCTGC	0.562																																							uc002vpq.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3193-3195)CCC>ACC		sphingosine kinase type 1-interacting protein							53.0	54.0	54.0					2																	228882377		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882377G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3193C>A	2.37:g.228882377G>T	ENSP00000375909:p.Pro1065Thr					SPHKAP_uc002vpp.2_Missense_Mutation_p.P1065T|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1065T	p.P1065T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3240	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1065					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3193C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955366	0.18507	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12147	2.72;2.71	6.08	-0.261	0.12963	.	0.377737	0.33253	N	0.005117	T	0.06280	0.0162	N	0.19112	0.55	0.20489	N	0.999896	B;B;B	0.26547	0.002;0.003;0.152	B;B;B	0.23716	0.004;0.007;0.048	T	0.37842	-0.9688	10	0.19147	T	0.46	.	5.2879	0.15712	0.5027:0.0:0.3589:0.1385	.	96;1065;1065	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	T	1065	ENSP00000375909:P1065T;ENSP00000339886:P1065T	ENSP00000339886:P1065T	P	-	1	0	SPHKAP	228590621	0.666000	0.27475	0.033000	0.17914	0.715000	0.41141	0.663000	0.25053	-0.103000	0.12175	-0.137000	0.14449	CCC		0.562	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		11	51	1	0	0.00185496	0.001855	0.00205542	11	51				
PSMD1	5707	broad.mit.edu	37	2	231926996	231926996	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:231926996A>G	ENST00000308696.6	+	3	257	c.95A>G	c.(94-96)aAt>aGt	p.N32S	PSMD1_ENST00000409643.1_Missense_Mutation_p.N32S|PSMD1_ENST00000373635.4_Missense_Mutation_p.N32S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.N32S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAGTTGTTAATGACTTCTGG	0.299																																							uc002vrn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(94-96)AAT>AGT		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						54.0	56.0	55.0					2																	231926996		2202	4298	6500	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231926996A>G	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.95A>G	2.37:g.231926996A>G	ENSP00000309474:p.Asn32Ser					PSMD1_uc002vrm.1_Missense_Mutation_p.N32S|PSMD1_uc010fxu.1_5'UTR	p.N32S	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	3	226	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	32					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.95A>G	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528114	0.64860	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.29655	1.56;1.56;1.56	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.40543	1.245	0.80722	D	1	B;B	0.30824	0.029;0.296	B;B	0.28849	0.01;0.095	T	0.04427	-1.0952	10	0.56958	D	0.05	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	32;32	Q99460;Q99460-2	PSMD1_HUMAN;.	S	32	ENSP00000309474:N32S;ENSP00000362738:N32S;ENSP00000386932:N32S	ENSP00000309474:N32S	N	+	2	0	PSMD1	231635240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.228000	0.95250	2.285000	0.76669	0.533000	0.62120	AAT		0.299	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			4	15	0	0	0	0.009096	0	4	15				
PRR21	643905	broad.mit.edu	37	2	240981267	240981267	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:240981267A>T	ENST00000408934.1	-	1	1132	c.1133T>A	c.(1132-1134)cTt>cAt	p.L378H		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	378								p.L378H(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTTAGAAACAAGAAGACAGGT	0.468																																							uc010zod.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1132-1134)CTT>CAT		proline rich 21							80.0	78.0	78.0					2																	240981267		2203	4300	6503	SO:0001583	missense	643905							g.chr2:240981267A>T	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.1133T>A	2.37:g.240981267A>T	ENSP00000386166:p.Leu378His						p.L378H	NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN			1	1133	-			378						Missense_Mutation	SNP	ENST00000408934.1	37	c.1133T>A	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	a	8.039	0.763471	0.15914	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.38887	1.11;1.11	0.675	-0.559	0.11792	.	.	.	.	.	T	0.36496	0.0969	N	0.08118	0	0.22253	N	0.999259	D	0.89917	1.0	D	0.78314	0.991	T	0.20940	-1.0260	9	0.87932	D	0	.	4.0544	0.09810	0.7335:0.0:0.2665:0.0	.	378	Q8WXC7	PRR21_HUMAN	H	378	ENSP00000386166:L378H;ENSP00000418240:L378H	ENSP00000386166:L378H	L	-	2	0	PRR21	240629940	0.002000	0.14202	0.008000	0.14137	0.061000	0.15899	0.113000	0.15499	-0.258000	0.09446	0.413000	0.27773	CTT		0.468	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		4	35	0	0	0	0.009096	0	4	35				
OTOS	150677	broad.mit.edu	37	2	241078728	241078728	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:241078728G>T	ENST00000391989.2	-	5	359	c.129C>A	c.(127-129)tcC>tcA	p.S43S	MYEOV2_ENST00000307266.3_5'Flank|OTOS_ENST00000319460.1_Silent_p.S43S			Q8NHW6	OTOSP_HUMAN	otospiralin	43					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)		p.S43S(1)		endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGTCAGAGGTGGAGAAAGGCC	0.617																																							uc002vyv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)TCC>TCA		otospiralin precursor							79.0	84.0	82.0					2																	241078728		2203	4300	6503	SO:0001819	synonymous_variant	150677					extracellular region		g.chr2:241078728G>T		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.129C>A	2.37:g.241078728G>T						MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	p.S43S	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	4	284	-		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)	43					Q53SW6	Silent	SNP	ENST00000391989.2	37	c.129C>A	CCDS2533.1																																																																																				0.617	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961		15	66	1	0	0.000422831	0.004007	0.00049212	15	66				
RNPEPL1	57140	broad.mit.edu	37	2	241513651	241513651	+	Missense_Mutation	SNP	G	G	C	rs139059683		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:241513651G>C	ENST00000270357.4	+	5	960	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	123					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E123Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TGTCATCCACGAGGTGGCCCA	0.607																																							uc002vzi.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(367-369)GAG>CAG		arginyl aminopeptidase (aminopeptidase B)-like							130.0	103.0	112.0					2																	241513651		2203	4300	6503	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241513651G>C			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.367G>C	2.37:g.241513651G>C	ENSP00000270357:p.Glu123Gln					RNPEPL1_uc010fzf.2_5'UTR|RNPEPL1_uc002vzj.2_5'Flank	p.E123Q	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	5	960	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	123				Proton acceptor (By similarity).	Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.367G>C		.	.	.	.	.	.	.	.	.	.	g	26.9	4.781101	0.90282	.	.	ENSG00000142327	ENST00000270357	T	0.26223	1.75	5.05	5.05	0.67936	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83872	0.0274	10	0.87932	D	0	-8.1804	15.8722	0.79129	0.0:0.0:1.0:0.0	.	123	Q9HAU8	RNPL1_HUMAN	Q	123	ENSP00000270357:E123Q	ENSP00000270357:E123Q	E	+	1	0	RNPEPL1	241162324	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	9.013000	0.93629	2.334000	0.79466	0.586000	0.80456	GAG		0.607	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		8	51	0	0	0	0.004482	0	8	51				
PASK	23178	broad.mit.edu	37	2	242079351	242079351	+	Missense_Mutation	SNP	G	G	T	rs376133084		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:242079351G>T	ENST00000405260.1	-	4	1247	c.549C>A	c.(547-549)agC>agA	p.S183R	PASK_ENST00000234040.4_Missense_Mutation_p.S183R|PASK_ENST00000358649.4_Missense_Mutation_p.S183R|PASK_ENST00000544142.1_Intron|PASK_ENST00000403638.3_Missense_Mutation_p.S183R|PASK_ENST00000539818.1_Intron	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	183	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.S183R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGTGCTCCTCGCTGAGGGCCT	0.617																																							uc002wao.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(547-549)AGC>AGA		PAS domain containing serine/threonine kinase							76.0	65.0	69.0					2																	242079351		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242079351G>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.549C>A	2.37:g.242079351G>T	ENSP00000384016:p.Ser183Arg					PASK_uc010zol.1_Intron|PASK_uc010zom.1_Missense_Mutation_p.S183R|PASK_uc010fzl.1_Missense_Mutation_p.S183R|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.S183R	p.S183R	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	4	641	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	183			PAS 1.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.549C>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247537	0.39697	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638	D;D;D;D	0.99578	-6.21;-6.21;-6.21;-6.21	4.61	-6.19	0.02078	PAS (3);PAS fold (1);	0.187753	0.37219	N	0.002188	D	0.99180	0.9716	M	0.70595	2.14	0.31605	N	0.652207	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.70487	0.964;0.939;0.969;0.964	D	0.99960	1.1719	10	0.66056	D	0.02	.	10.5325	0.44986	0.7239:0.115:0.1611:0.0	.	183;183;183;183	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	R	183	ENSP00000234040:S183R;ENSP00000384016:S183R;ENSP00000351475:S183R;ENSP00000384438:S183R	ENSP00000234040:S183R	S	-	3	2	PASK	241728024	0.001000	0.12720	0.859000	0.33776	0.346000	0.29079	-2.213000	0.01224	-1.313000	0.02303	-0.339000	0.08088	AGC		0.617	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		4	23	1	0	0.000602214	0.000602	0.000682885	4	23				
D2HGDH	728294	broad.mit.edu	37	2	242689675	242689675	+	Silent	SNP	C	C	G	rs141524359		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:242689675C>G	ENST00000321264.4	+	7	1172	c.963C>G	c.(961-963)gtC>gtG	p.V321V	D2HGDH_ENST00000403782.1_Silent_p.V187V|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	321					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.V321V(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGCAGCTGGTCGGGCGCCATC	0.612																																							uc002wce.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(961-963)GTC>GTG		D-2-hydroxyglutarate dehydrogenase precursor							84.0	78.0	80.0					2																	242689675		2203	4296	6499	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242689675C>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.963C>G	2.37:g.242689675C>G						D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Silent_p.V187V|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_RNA|D2HGDH_uc002wci.2_Silent_p.V20V	p.V321V	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	7	1136	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	321					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.963C>G	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.181984	0.01633	.	.	ENSG00000180902	ENST00000432449	.	.	.	4.63	-9.26	0.00662	.	.	.	.	.	T	0.43478	0.1249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50136	-0.8863	4	.	.	.	-0.1762	6.0705	0.19887	0.0718:0.1552:0.4208:0.3522	.	.	.	.	G	75	.	.	R	+	1	2	D2HGDH	242338348	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-4.025000	0.00311	-2.140000	0.00806	-0.339000	0.08088	CGG		0.612	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		7	39	0	0	0	0.008291	0	7	39				
NEU4	129807	broad.mit.edu	37	2	242758367	242758367	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:242758367C>A	ENST00000391969.2	+	5	2159	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	NEU4_ENST00000405370.1_Missense_Mutation_p.P483H|NEU4_ENST00000407683.1_Missense_Mutation_p.P483H|NEU4_ENST00000404257.1_Missense_Mutation_p.P495H|NEU4_ENST00000325935.6_Missense_Mutation_p.P496H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	483					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.P495H(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGCTGCTGGCCCTCCTGACAG	0.657																																							uc010fzr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1447-1449)CCC>CAC		sialidase 4							10.0	12.0	11.0					2																	242758367		1685	3308	4993	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242758367C>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.1448C>A	2.37:g.242758367C>A	ENSP00000375830:p.Pro483His					NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.P483H|NEU4_uc002wcn.1_Missense_Mutation_p.P495H|NEU4_uc002wco.1_Missense_Mutation_p.P483H|NEU4_uc002wcp.1_Missense_Mutation_p.P495H	p.P483H	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	4	1534	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	483					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.1448C>A	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610502	0.46527	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	T;T;T;T;T	0.80480	-1.34;-1.34;-1.37;-1.34;-1.38	4.05	4.05	0.47172	.	0.610479	0.14908	U	0.291450	T	0.77003	0.4067	N	0.14661	0.345	0.31525	N	0.661892	D;D;D	0.71674	0.997;0.998;0.997	P;P;P	0.61940	0.79;0.896;0.79	T	0.76113	-0.3078	10	0.87932	D	0	-9.1793	6.9255	0.24412	0.0:0.8257:0.0:0.1743	.	495;495;483	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	H	483;483;493;495;483;496	ENSP00000385402:P483H;ENSP00000384804:P483H;ENSP00000385149:P495H;ENSP00000375830:P483H;ENSP00000320318:P496H	ENSP00000320318:P496H	P	+	2	0	NEU4	242407040	0.008000	0.16893	0.838000	0.33150	0.302000	0.27658	0.897000	0.28390	1.967000	0.57214	0.558000	0.71614	CCC		0.657	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		3	9	1	0	2.56e-06	0.009096	3.4196e-06	3	9				
FERMT1	55612	broad.mit.edu	37	20	6068532	6068532	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:6068532T>A	ENST00000217289.4	-	11	2053		c.e11-2		FERMT1_ENST00000536936.1_Splice_Site|FERMT1_ENST00000478194.1_Splice_Site	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1						cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)		p.?(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTCGCAGCCTGAAGGACAAA	0.393																																							uc002wmr.2		NA																	2	Unknown(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.e11-1		kindlin-1							117.0	109.0	112.0					20																	6068532		2203	4300	6503	SO:0001630	splice_region_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6068532T>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1265-2A>T	20.37:g.6068532T>A						FERMT1_uc002wmq.2_Splice_Site|FERMT1_uc010gbt.2_Splice_Site_p.G165_splice|FERMT1_uc002wms.2_Intron	p.G422_splice	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN			11	2054	-								D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Splice_Site	SNP	ENST00000217289.4	37	c.1265_splice	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982259	0.74474	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.83	0.78743	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT1	6016532	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.950000	0.87804	2.203000	0.70933	0.472000	0.43445	.		0.393	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671	Intron	10	44	0	0	0	0.006214	0	10	44				
FERMT1	55612	broad.mit.edu	37	20	6096636	6096636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:6096636C>T	ENST00000217289.4	-	3	995	c.207G>A	c.(205-207)tgG>tgA	p.W69*	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	69					cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)		p.W69*(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTTTCAGAAGCCAGCAATGCT	0.483																																							uc002wmr.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(205-207)TGG>TGA		kindlin-1							50.0	50.0	50.0					20																	6096636		2203	4300	6503	SO:0001587	stop_gained	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6096636C>T	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.207G>A	20.37:g.6096636C>T	ENSP00000217289:p.Trp69*					FERMT1_uc010gbt.2_5'UTR|FERMT1_uc002wms.2_Nonsense_Mutation_p.W69*	p.W69*	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN			3	996	-			69					D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Nonsense_Mutation	SNP	ENST00000217289.4	37	c.207G>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	38	7.096760	0.98059	.	.	ENSG00000101311	ENST00000217289;ENST00000339538;ENST00000378844	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.3666	19.8176	0.96576	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000217289:W69X	W	-	3	0	FERMT1	6044636	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.765000	0.95021	0.650000	0.86243	TGG		0.483	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		6	25	0	0	0	0.001168	0	6	25				
PAK7	57144	broad.mit.edu	37	20	9560984	9560984	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:9560984C>A	ENST00000378429.3	-	5	1344	c.798G>T	c.(796-798)agG>agT	p.R266S	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Missense_Mutation_p.R266S|PAK7_ENST00000353224.5_Missense_Mutation_p.R266S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	266	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R266S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTTTGGCCTCCTGTCATAGT	0.567																																							uc002wnl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(796-798)AGG>AGT		p21-activated kinase 7							123.0	113.0	116.0					20																	9560984		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9560984C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.798G>T	20.37:g.9560984C>A	ENSP00000367686:p.Arg266Ser					PAK7_uc002wnk.2_Missense_Mutation_p.R266S|PAK7_uc002wnj.2_Missense_Mutation_p.R266S|PAK7_uc010gby.1_Missense_Mutation_p.R266S	p.R266S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1343	-			266			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.798G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514957	0.27123	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.28895	1.59;1.59;1.59	5.38	2.37	0.29283	.	0.085168	0.85682	D	0.000000	T	0.14227	0.0344	N	0.08118	0	0.34003	D	0.65059	B;B	0.24258	0.1;0.044	B;B	0.24541	0.054;0.024	T	0.20907	-1.0261	9	.	.	.	.	10.5954	0.45333	0.0:0.7271:0.0:0.2729	.	266;266	B0AZM9;Q9P286	.;PAK7_HUMAN	S	266;266;266;214	ENSP00000367686:R266S;ENSP00000322957:R266S;ENSP00000367679:R266S	.	R	-	3	2	PAK7	9508984	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	1.227000	0.32576	0.779000	0.33543	-0.158000	0.13435	AGG		0.567	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			11	40	1	0	1.58986e-06	0.008291	2.14735e-06	11	40				
PAK7	57144	broad.mit.edu	37	20	9560986	9560986	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:9560986T>A	ENST00000378429.3	-	5	1342	c.796A>T	c.(796-798)Agg>Tgg	p.R266W	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Missense_Mutation_p.R266W|PAK7_ENST00000353224.5_Missense_Mutation_p.R266W	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	266	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R266W(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTGGCCTCCTGTCATAGTCA	0.572																																							uc002wnl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(796-798)AGG>TGG		p21-activated kinase 7							119.0	110.0	113.0					20																	9560986		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9560986T>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.796A>T	20.37:g.9560986T>A	ENSP00000367686:p.Arg266Trp					PAK7_uc002wnk.2_Missense_Mutation_p.R266W|PAK7_uc002wnj.2_Missense_Mutation_p.R266W|PAK7_uc010gby.1_Missense_Mutation_p.R266W	p.R266W	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1341	-			266			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.796A>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.040020	0.55003	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.32272	1.46;1.46;1.46	5.38	1.63	0.23807	.	0.085168	0.85682	D	0.000000	T	0.23171	0.0560	N	0.08118	0	0.36976	D	0.894043	P;P	0.51791	0.948;0.948	P;P	0.52454	0.699;0.604	T	0.08680	-1.0710	9	.	.	.	.	13.0978	0.59202	0.0:0.0:0.383:0.6169	.	266;266	B0AZM9;Q9P286	.;PAK7_HUMAN	W	266;266;266;214	ENSP00000367686:R266W;ENSP00000322957:R266W;ENSP00000367679:R266W	.	R	-	1	2	PAK7	9508986	0.999000	0.42202	0.993000	0.49108	0.719000	0.41307	2.540000	0.45727	0.060000	0.16281	0.519000	0.50382	AGG		0.572	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			11	41	0	0	0	0.008291	0	11	41				
PCSK2	5126	broad.mit.edu	37	20	17434420	17434420	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:17434420G>T	ENST00000262545.2	+	9	1234	c.919G>T	c.(919-921)Gcc>Tcc	p.A307S	PCSK2_ENST00000536609.1_Missense_Mutation_p.A272S|PCSK2_ENST00000377899.1_Missense_Mutation_p.A288S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	307	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.A307S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTACGTGTGGGCCTCCGGGGA	0.677																																							uc002wpm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(919-921)GCC>TCC		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						73.0	60.0	64.0					20																	17434420		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434420G>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.919G>T	20.37:g.17434420G>T	ENSP00000262545:p.Ala307Ser					PCSK2_uc002wpl.2_Missense_Mutation_p.A288S|PCSK2_uc010zrm.1_Missense_Mutation_p.A272S	p.A307S	NM_002594	NP_002585	P16519	NEC2_HUMAN			9	1239	+			307			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.919G>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082823	0.94050	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.86297	-2.1;-2.1;-2.1	5.69	5.69	0.88448	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.92224	0.7534	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.91635	0.954;0.999	D	0.92578	0.6072	10	0.87932	D	0	-33.1942	18.389	0.90475	0.0:0.0:1.0:0.0	.	272;307	B4DFQ3;P16519	.;NEC2_HUMAN	S	288;307;272	ENSP00000367131:A288S;ENSP00000262545:A307S;ENSP00000437458:A272S	ENSP00000262545:A307S	A	+	1	0	PCSK2	17382420	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	9.863000	0.99569	2.692000	0.91855	0.655000	0.94253	GCC		0.677	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		8	35	1	0	0.000274275	0.004482	0.000319476	8	35				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																							uc010ztl.1		NA																	0					0						c.(88-90)CAT>TAT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.H30Y							2	120	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.88C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	48	0	0	0	0.004482	0	5	48				
DEFB118	117285	broad.mit.edu	37	20	29960763	29960763	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:29960763C>G	ENST00000253381.2	+	2	195	c.162C>G	c.(160-162)tgC>tgG	p.C54W		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	54					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.C54W(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTCGAGCTTGCTGCATTCCAT	0.428																																							uc002wvr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(160-162)TGC>TGG		beta-defensin 118 precursor							144.0	128.0	134.0					20																	29960763		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960763C>G	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.162C>G	20.37:g.29960763C>G	ENSP00000253381:p.Cys54Trp						p.C54W	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	188	+	all_hematologic(12;0.158)		54					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.162C>G	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959813	0.53400	.	.	ENSG00000131068	ENST00000253381	D	0.99270	-5.66	3.82	3.82	0.43975	.	0.000000	0.44097	D	0.000498	D	0.99067	0.9680	M	0.64170	1.965	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98364	1.0550	10	0.87932	D	0	-10.7923	11.5201	0.50546	0.0:1.0:0.0:0.0	.	54	Q96PH6	DB118_HUMAN	W	54	ENSP00000253381:C54W	ENSP00000253381:C54W	C	+	3	2	DEFB118	29424424	1.000000	0.71417	0.993000	0.49108	0.022000	0.10575	0.902000	0.28459	2.408000	0.81797	0.655000	0.94253	TGC		0.428	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		18	51	0	0	0	0.00499	0	18	51				
XKR7	343702	broad.mit.edu	37	20	30556125	30556125	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:30556125G>C	ENST00000562532.2	+	1	321	c.147G>C	c.(145-147)ggG>ggC	p.G49G		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	49						integral component of membrane (GO:0016021)		p.G49G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			gcggcccggggccgcgcTACG	0.801																																							uc002wxe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(145-147)GGG>GGC		XK, Kell blood group complex subunit-related							13.0	13.0	13.0					20																	30556125		2195	4284	6479	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30556125G>C	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.147G>C	20.37:g.30556125G>C							p.G49G	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		1	321	+			49					Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.147G>C	CCDS33459.1																																																																																				0.801	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		3	8	0	0	0	0.009096	0	3	8				
PLAGL2	5326	broad.mit.edu	37	20	30789751	30789751	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:30789751C>T	ENST00000246229.4	-	2	495	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	77					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K77K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGCAAAAGCCTTGCCACAGT	0.522																																					Colon(163;15 1893 11280 16306 47518)	Colon(163;15 1893 11280 16306 47518)	uc002wxn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(229-231)AAG>AAA		pleiomorphic adenoma gene-like 2							73.0	65.0	68.0					20																	30789751		2203	4300	6503	SO:0001819	synonymous_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30789751C>T		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.231G>A	20.37:g.30789751C>T							p.K77K	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	448	-			77			C2H2-type 1.		A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	c.231G>A	CCDS13197.1																																																																																				0.522	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		9	47	0	0	0	0.006214	0	9	47				
COMMD7	149951	broad.mit.edu	37	20	31292637	31292637	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:31292637C>A	ENST00000278980.6	-	6	1011	c.406G>T	c.(406-408)Gat>Tat	p.D136Y	COMMD7_ENST00000446419.2_Missense_Mutation_p.D135Y	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	136	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)	p.D136Y(1)		breast(1)|endometrium(1)|lung(3)	5						CACTCCATATCTATGAGCTGG	0.478																																							uc002wya.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(406-408)GAT>TAT		COMM domain containing 7 isoform 1							98.0	92.0	94.0					20																	31292637		1922	4135	6057	SO:0001583	missense	149951				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding	g.chr20:31292637C>A	AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.406G>T	20.37:g.31292637C>A	ENSP00000278980:p.Asp136Tyr					COMMD7_uc010ged.2_Missense_Mutation_p.D135Y|COMMD7_uc002wyb.2_Missense_Mutation_p.D136Y	p.D136Y	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN			6	1023	-			136			COMM.		A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Missense_Mutation	SNP	ENST00000278980.6	37	c.406G>T	CCDS42864.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.334306	0.81801	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	T;T	0.13538	2.58;2.58	5.37	5.37	0.77165	COMM domain (1);	0.050635	0.85682	D	0.000000	T	0.41673	0.1169	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	T	0.33111	-0.9881	10	0.87932	D	0	.	15.9723	0.80031	0.0:1.0:0.0:0.0	.	135;136	Q86VX2-2;Q86VX2	.;COMD7_HUMAN	Y	136;135	ENSP00000278980:D136Y;ENSP00000395339:D135Y	ENSP00000278980:D136Y	D	-	1	0	COMMD7	30756298	1.000000	0.71417	0.354000	0.25760	0.974000	0.67602	5.844000	0.69430	2.788000	0.95919	0.650000	0.86243	GAT		0.478	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		5	52	1	0	8.12818e-05	0.001984	9.82943e-05	5	52				
COMMD7	149951	broad.mit.edu	37	20	31294522	31294522	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:31294522C>T	ENST00000278980.6	-	4	887	c.282G>A	c.(280-282)gcG>gcA	p.A94A	COMMD7_ENST00000446419.2_Silent_p.A93A	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	94					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)	p.A94A(1)		breast(1)|endometrium(1)|lung(3)	5						TTATGAAATCCGCCTGGACCT	0.473																																							uc002wya.3		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(280-282)GCG>GCA		COMM domain containing 7 isoform 1							77.0	74.0	75.0					20																	31294522		1925	4129	6054	SO:0001819	synonymous_variant	149951				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding	g.chr20:31294522C>T	AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.282G>A	20.37:g.31294522C>T						COMMD7_uc010ged.2_Silent_p.A93A|COMMD7_uc002wyb.2_Silent_p.A94A	p.A94A	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN			4	899	-			94					A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Silent	SNP	ENST00000278980.6	37	c.282G>A	CCDS42864.1																																																																																				0.473	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		8	28	0	0	0	0.004482	0	8	28				
BPIFB2	80341	broad.mit.edu	37	20	31601738	31601738	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:31601738C>A	ENST00000170150.3	+	5	626	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	144						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.A144D(1)									TCGGGCCACGCCAACGAGTTT	0.597																																							uc002wyj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(430-432)GCC>GAC		bactericidal/permeability-increasing							56.0	49.0	51.0					20																	31601738		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31601738C>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.431C>A	20.37:g.31601738C>A	ENSP00000170150:p.Ala144Asp						p.A144D	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			5	625	+			144					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.431C>A	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433681	0.43224	.	.	ENSG00000078898	ENST00000170150	T	0.05139	3.49	3.37	2.39	0.29439	.	0.830629	0.10339	N	0.686514	T	0.13884	0.0336	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.23440	-1.0188	10	0.72032	D	0.01	-10.0354	8.5693	0.33558	0.0:0.7628:0.2372:0.0	.	144	Q8N4F0	BPIB2_HUMAN	D	144	ENSP00000170150:A144D	ENSP00000170150:A144D	A	+	2	0	BPIFB2	31065399	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.029000	0.12329	0.972000	0.38314	0.491000	0.48974	GCC		0.597	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		5	16	1	0	0.00198382	0.001984	0.00217995	5	16				
BPIFB4	149954	broad.mit.edu	37	20	31671451	31671451	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:31671451C>A	ENST00000375483.3	+	3	448	c.448C>A	c.(448-450)Cga>Aga	p.R150R		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	150	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.R111R(1)									GCTTCACCGGCGAGAGCTGCA	0.642																																							uc010zue.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)CGA>AGA		antimicrobial peptide RY2G5 precursor							44.0	45.0	45.0					20																	31671451		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671451C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.448C>A	20.37:g.31671451C>A							p.R150R	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	463	+			150			Gly-rich.		Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.448C>A	CCDS13213.2																																																																																				0.642	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		7	36	1	0	2.0095e-06	0.001984	2.69165e-06	7	36				
GGT7	2686	broad.mit.edu	37	20	33440034	33440034	+	Missense_Mutation	SNP	G	G	A	rs142938362	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:33440034G>A	ENST00000336431.5	-	12	1555	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	504					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.S504L(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CAGGATCCCCGAGGGGGTGAT	0.642																																							uc002xay.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1510-1512)TCG>TTG		gamma-glutamyltransferase 7		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	50.0	51.0	51.0		1511	6.1	1.0	20	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GGT7	NM_178026.2	145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	504/663	33440034	2,13004	2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33440034G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1511C>T	20.37:g.33440034G>A	ENSP00000338964:p.Ser504Leu					GGT7_uc010gex.2_5'Flank|GGT7_uc002xaz.1_Missense_Mutation_p.S521L	p.S504L	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			12	1554	-			504			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.1511C>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	35	5.500891	0.96371	2.27E-4	1.16E-4	ENSG00000131067	ENST00000336431	T	0.05580	3.42	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.46741	1.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00014	-1.2406	10	0.87932	D	0	-25.987	20.6593	0.99626	0.0:0.0:1.0:0.0	.	504;504	A4FU32;Q9UJ14	.;GGT7_HUMAN	L	504	ENSP00000338964:S504L	ENSP00000338964:S504L	S	-	2	0	GGT7	32903695	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	9.076000	0.94009	2.885000	0.99019	0.655000	0.94253	TCG		0.642	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		8	26	0	0	0	0.00308	0	8	26				
ERGIC3	51614	broad.mit.edu	37	20	34144838	34144838	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:34144838A>G	ENST00000348547.2	+	11	1051	c.974A>G	c.(973-975)tAt>tGt	p.Y325C	ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y330C|ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y340C|ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y330C	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	325					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Y330C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TTCGTCCTCTATGAGCTCTCG	0.602																																							uc002xct.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(973-975)TAT>TGT		serologically defined breast cancer antigen 84							70.0	64.0	66.0					20																	34144838		2203	4300	6503	SO:0001583	missense	51614				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	g.chr20:34144838A>G	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.974A>G	20.37:g.34144838A>G	ENSP00000341358:p.Tyr325Cys					ERGIC3_uc002xcs.2_Missense_Mutation_p.Y330C|ERGIC3_uc002xcu.2_Missense_Mutation_p.Y340C|ERGIC3_uc002xcv.2_Missense_Mutation_p.Y288C	p.Y325C	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		11	1043	+	Lung NSC(9;0.00489)|all_lung(11;0.00729)		325			Lumenal (Potential).		Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	ENST00000348547.2	37	c.974A>G	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.058344|4.058344	0.76074|0.76074	.|.	.|.	ENSG00000125991|ENSG00000125991	ENST00000416206;ENST00000442139|ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052	.|T;T;T;T	.|0.71817	.|-0.52;-0.52;-0.6;-0.56	5.22|5.22	4.1|4.1	0.47936|0.47936	.|Domain of unknown function DUF1692 (1);	.|0.126264	.|0.56097	.|D	.|0.000036	D|D	0.87386|0.87386	0.6164|0.6164	H|H	0.95645|0.95645	3.7|3.7	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.997;0.999	D|D	0.88509|0.88509	0.3088|0.3088	5|10	.|0.87932	.|D	.|0	-30.721|-30.721	10.4172|10.4172	0.44329|0.44329	0.8532:0.0:0.0:0.1467|0.8532:0.0:0.0:0.1467	.|.	.|340;325;330	.|E9PFA8;Q9Y282;Q9Y282-3	.|.;ERGI3_HUMAN;.	V|C	339;115|325;330;340;330	.|ENSP00000341358:Y325C;ENSP00000349970:Y330C;ENSP00000392341:Y340C;ENSP00000279052:Y330C	.|ENSP00000279052:Y330C	M|Y	+|+	1|2	0|0	ERGIC3|ERGIC3	33608252|33608252	1.000000|1.000000	0.71417|0.71417	0.368000|0.368000	0.25939|0.25939	0.982000|0.982000	0.71751|0.71751	9.082000|9.082000	0.94059|0.94059	0.782000|0.782000	0.33613|0.33613	0.519000|0.519000	0.50382|0.50382	ATG|TAT		0.602	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		4	45	0	0	0	0.009096	0	4	45				
EPB41L1	2036	broad.mit.edu	37	20	34797560	34797560	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:34797560A>G	ENST00000338074.2	+	15	1980	c.1819A>G	c.(1819-1821)Agc>Ggc	p.S607G	EPB41L1_ENST00000441639.1_Missense_Mutation_p.S533G|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.S607G|EPB41L1_ENST00000202028.5_Missense_Mutation_p.S533G|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S498G	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	607					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.S896G(1)|p.S607G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAAGTGCTCCAGCATCACGGT	0.607																																							uc002xfb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1819-1821)AGC>GGC		erythrocyte membrane protein band 4.1-like 1							114.0	90.0	98.0					20																	34797560		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34797560A>G	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1819A>G	20.37:g.34797560A>G	ENSP00000337168:p.Ser607Gly					EPB41L1_uc002xeu.2_Missense_Mutation_p.S533G|EPB41L1_uc010zvo.1_Missense_Mutation_p.S607G|EPB41L1_uc002xev.2_Missense_Mutation_p.S607G|EPB41L1_uc002xew.2_Missense_Mutation_p.S498G|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.S533G|EPB41L1_uc010gfq.2_Missense_Mutation_p.S706G	p.S607G	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			15	1990	+	Breast(12;0.0239)		607					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1819A>G	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058002	0.76074	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.87029	-2.2;-2.11;-2.2;-2.15;-2.15	5.87	5.87	0.94306	.	0.049549	0.85682	D	0.000000	D	0.90256	0.6953	L	0.36672	1.1	0.58432	D	0.999995	D;D;D;D;P;D	0.76494	0.996;0.999;0.997;0.998;0.956;0.974	P;D;D;D;D;D	0.80764	0.824;0.994;0.97;0.987;0.931;0.969	D	0.90906	0.4772	10	0.59425	D	0.04	-9.0565	15.7569	0.78037	1.0:0.0:0.0:0.0	.	607;896;607;498;498;533	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	G	533;498;607;498;533;896;607;607	ENSP00000202028:S533G;ENSP00000363061:S498G;ENSP00000399214:S533G;ENSP00000337168:S607G;ENSP00000363052:S607G	ENSP00000202028:S533G	S	+	1	0	EPB41L1	34260974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.659000	0.91116	2.371000	0.80710	0.533000	0.62120	AGC		0.607	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		5	22	0	0	0	0.001168	0	5	22				
MROH8	140699	broad.mit.edu	37	20	35740727	35740727	+	Splice_Site	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:35740727A>G	ENST00000400441.3	-	21	2813	c.2814T>C	c.(2812-2814)ttT>ttC	p.F938F	MROH8_ENST00000217333.8_Splice_Site_p.F767F|MROH8_ENST00000441008.2_Splice_Site_p.F924F			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0								p.F965S(2)|p.F938F(1)									GCTCACATACAAAGAATCTGC	0.418																																							uc010zvu.1		NA																	3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(2842-2844)TTT>TTC		hypothetical protein LOC140699 isoform 1							138.0	126.0	130.0					20																	35740727		1886	4131	6017	SO:0001630	splice_region_variant	140699							g.chr20:35740727A>G	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2814+1T>C	20.37:g.35740727A>G						C20orf132_uc002xgk.2_Silent_p.F570F	p.F948F	NM_152503	NP_689716	Q9H579	CT132_HUMAN			23	2935	-		Myeloproliferative disorder(115;0.00878)	Error:Variant_position_missing_in_Q9H579_after_alignment					Q5JYQ6	Silent	SNP	ENST00000400441.3	37	c.2844T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.85|12.85	2.061251|2.061251	0.36373|0.36373	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000417458	.|.	.|.	.|.	5.71|5.71	4.59|4.59	0.56863|0.56863	.|.	.|.	.|.	.|.	.|.	T|.	0.59335|.	0.2186|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55704|.	-0.8099|.	4|.	.|.	.|.	.|.	-18.1552|-18.1552	8.6912|8.6912	0.34267|0.34267	0.9125:0.0:0.0875:0.0|0.9125:0.0:0.0875:0.0	.|.	.|.	.|.	.|.	S|R	965|566	.|.	.|.	L|X	-|-	2|1	0|0	C20orf132|C20orf132	35174141|35174141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.906000|2.906000	0.48735|0.48735	0.950000|0.950000	0.37743|0.37743	0.496000|0.496000	0.49642|0.49642	TTG|TGA		0.418	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	Silent	10	55	0	0	0	0.001855	0	10	55				
TOP1	7150	broad.mit.edu	37	20	39721125	39721125	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:39721125C>A	ENST00000361337.2	+	9	878	c.628C>A	c.(628-630)Cgc>Agc	p.R210S		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	210					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.R210S(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GGAAGAAGAGCGCTATCCTGA	0.413			T	NUP98	AML*																																		uc002xjl.2		NA		Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(628-630)CGC>AGC		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						165.0	144.0	151.0					20																	39721125		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39721125C>A		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.628C>A	20.37:g.39721125C>A	ENSP00000354522:p.Arg210Ser					TOP1_uc010gge.1_RNA	p.R210S	NM_003286	NP_003277	P11387	TOP1_HUMAN			9	874	+		Myeloproliferative disorder(115;0.00878)	210					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.628C>A	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385609	0.61956	.	.	ENSG00000198900	ENST00000361337	T	0.28454	1.61	5.41	5.41	0.78517	DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	L	0.55990	1.75	0.80722	D	1	P	0.50819	0.939	B	0.43194	0.411	T	0.11036	-1.0604	10	0.40728	T	0.16	-6.9192	19.1973	0.93695	0.0:1.0:0.0:0.0	.	210	P11387	TOP1_HUMAN	S	210	ENSP00000354522:R210S	ENSP00000354522:R210S	R	+	1	0	TOP1	39154539	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.036000	0.57304	2.551000	0.86045	0.655000	0.94253	CGC		0.413	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			12	44	1	0	0.00185496	0.001855	0.00205542	12	44				
IFT52	51098	broad.mit.edu	37	20	42242616	42242616	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:42242616G>T	ENST00000373030.3	+	7	742	c.612G>T	c.(610-612)aaG>aaT	p.K204N	IFT52_ENST00000373039.4_Splice_Site_p.K204N	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	204					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.K204N(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATCACTCAAAGGTACAGCTTT	0.388																																							uc002xkw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(610-612)AAG>AAT		intraflagellar transport 52 homolog							74.0	69.0	71.0					20																	42242616		2203	4300	6503	SO:0001630	splice_region_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42242616G>T	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.612+1G>T	20.37:g.42242616G>T						IFT52_uc010zwi.1_RNA|IFT52_uc002xky.2_Missense_Mutation_p.K204N|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.K180N|IFT52_uc002xkz.2_Missense_Mutation_p.K204N	p.K204N	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	734	+		Myeloproliferative disorder(115;0.00452)	204					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.612G>T	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592094	0.66219	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.75	5.75	0.90469	.	0.355506	0.29438	N	0.012148	T	0.66218	0.2767	M	0.62723	1.935	0.80722	D	1	B	0.19817	0.039	B	0.17098	0.017	T	0.59621	-0.7420	9	0.27785	T	0.31	-22.9764	19.0975	0.93258	0.0:0.0:1.0:0.0	.	204	Q9Y366	IFT52_HUMAN	N	204	.	ENSP00000362121:K204N	K	+	3	2	IFT52	41676030	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.393000	0.97256	2.885000	0.99019	0.655000	0.94253	AAG		0.388	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004	Missense_Mutation	12	47	1	0	4.93089e-13	0.00245	8.29986e-13	12	47				
TOX2	84969	broad.mit.edu	37	20	42635430	42635430	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:42635430A>T	ENST00000358131.5	+	3	644	c.436A>T	c.(436-438)Acg>Tcg	p.T146S	TOX2_ENST00000423191.2_Missense_Mutation_p.T95S|TOX2_ENST00000372999.1_Missense_Mutation_p.T95S|TOX2_ENST00000341197.4_Missense_Mutation_p.T137S|RN7SL443P_ENST00000464331.2_RNA	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	146					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T95S(1)|p.T146S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGCTGCCCACGGTGAGTCC	0.572																																							uc002xlf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(436-438)ACG>TCG		TOX high mobility group box family member 2							47.0	38.0	41.0					20																	42635430		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635430A>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.436A>T	20.37:g.42635430A>T	ENSP00000350849:p.Thr146Ser					TOX2_uc010ggo.2_Missense_Mutation_p.T137S|TOX2_uc002xle.3_Missense_Mutation_p.T95S|TOX2_uc010ggp.2_Missense_Mutation_p.T95S|TOX2_uc002xlg.2_Missense_Mutation_p.T95S	p.T146S	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	453	+		Myeloproliferative disorder(115;0.00452)	146					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.436A>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827328	0.50739	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.61	5.61	0.85477	.	0.121589	0.56097	N	0.000024	T	0.25044	0.0608	N	0.19112	0.55	0.80722	D	1	D;B;P;D	0.59767	0.986;0.121;0.817;0.976	P;B;B;P	0.55391	0.775;0.148;0.366;0.6	T	0.02437	-1.1159	10	0.35671	T	0.21	.	14.6181	0.68562	1.0:0.0:0.0:0.0	.	137;95;146;95	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	S	137;95;95;95;146	ENSP00000344724:T137S;ENSP00000396584:T95S;ENSP00000390278:T95S;ENSP00000362090:T95S;ENSP00000350849:T146S	ENSP00000344724:T137S	T	+	1	0	TOX2	42068844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.652000	0.74377	2.126000	0.65437	0.533000	0.62120	ACG		0.572	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			4	13	0	0	0	0.000602	0	4	13				
ZNF335	63925	broad.mit.edu	37	20	44596133	44596133	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:44596133C>T	ENST00000322927.2	-	6	1055	c.955G>A	c.(955-957)Gag>Aag	p.E319K	ZNF335_ENST00000426788.1_Splice_Site_p.E164K|ZNF335_ENST00000494955.1_5'UTR	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	319					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.E319K(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGTGGCCTACCCTCCAGGTCA	0.542																																							uc002xqw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(955-957)GAG>AAG		zinc finger protein 335							226.0	184.0	198.0					20																	44596133		2203	4300	6503	SO:0001630	splice_region_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44596133C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.955+1G>A	20.37:g.44596133C>T						ZNF335_uc010zxk.1_Missense_Mutation_p.E164K|ZNF335_uc002xqx.1_Missense_Mutation_p.E287K|ZNF335_uc002xqy.2_Missense_Mutation_p.G164S	p.E319K	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			6	1078	-		Myeloproliferative disorder(115;0.0122)	319					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.955G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.633848	0.87660	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.11495	2.9;2.77	4.68	4.68	0.58851	.	0.123628	0.53938	D	0.000049	T	0.19967	0.0480	N	0.24115	0.695	0.46499	D	0.999079	D;P	0.61697	0.99;0.956	D;D	0.66351	0.943;0.931	T	0.02263	-1.1186	10	0.56958	D	0.05	-19.3887	17.1352	0.86737	0.0:1.0:0.0:0.0	.	164;319	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	K	319;96;164	ENSP00000325326:E319K;ENSP00000397098:E164K	ENSP00000243961:E96K	E	-	1	0	ZNF335	44029540	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	4.771000	0.62318	2.582000	0.87167	0.556000	0.70494	GAG		0.542	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095	Missense_Mutation	9	41	0	0	0	0.008291	0	9	41				
MMP9	4318	broad.mit.edu	37	20	44641127	44641127	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:44641127C>A	ENST00000372330.3	+	8	1255	c.1236C>A	c.(1234-1236)tcC>tcA	p.S412S	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	412					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S412S(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TAGATCATTCCTCAGTGCCGG	0.622																																							uc002xqz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1234-1236)TCC>TCA		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						82.0	74.0	76.0					20																	44641127		2203	4300	6503	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641127C>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1236C>A	20.37:g.44641127C>A							p.S412S	NM_004994	NP_004985	P14780	MMP9_HUMAN			8	1255	+		Myeloproliferative disorder(115;0.0122)	412					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.1236C>A	CCDS13390.1																																																																																				0.622	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			8	56	1	0	7.48243e-07	0.006214	1.03265e-06	8	56				
SLC12A5	57468	broad.mit.edu	37	20	44671910	44671910	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:44671910T>C	ENST00000454036.2	+	9	1303	c.1254T>C	c.(1252-1254)gaT>gaC	p.D418D	SLC12A5_ENST00000243964.3_Silent_p.D395D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	418					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.D395D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTTCAGTGATATGACCTCCT	0.572																																							uc010zxl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1252-1254)GAT>GAC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						302.0	255.0	271.0					20																	44671910		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671910T>C	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1254T>C	20.37:g.44671910T>C						SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.D395D	p.D418D	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			9	1330	+		Myeloproliferative disorder(115;0.0122)	418			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1254T>C	CCDS46610.1																																																																																				0.572	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			51	180	0	0	0	0.00361	0	51	180				
SLC13A3	64849	broad.mit.edu	37	20	45194872	45194872	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:45194872T>C	ENST00000279027.4	-	11	1508	c.1490A>G	c.(1489-1491)gAg>gGg	p.E497G	SLC13A3_ENST00000396360.1_Missense_Mutation_p.E415G|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E447G|SLC13A3_ENST00000472148.1_Missense_Mutation_p.E415G|SLC13A3_ENST00000435032.1_Missense_Mutation_p.E82G|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E450G|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E450G	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	497					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.E497G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCTCACCAGCTCTGCCAGGAC	0.607																																							uc002xsf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1489-1491)GAG>GGG		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)						89.0	93.0	91.0					20																	45194872		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194872T>C	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1490A>G	20.37:g.45194872T>C	ENSP00000279027:p.Glu497Gly					SLC13A3_uc010ghn.1_Missense_Mutation_p.E466G|SLC13A3_uc010zxw.1_Missense_Mutation_p.E447G|SLC13A3_uc002xsg.1_Missense_Mutation_p.E450G|SLC13A3_uc010gho.1_Missense_Mutation_p.E415G|SLC13A3_uc010zxx.1_Missense_Mutation_p.E399G|SLC13A3_uc002xse.1_5'Flank|SLC13A3_uc010ghm.1_Missense_Mutation_p.E84G|SLC13A3_uc010zxv.1_Missense_Mutation_p.E82G	p.E497G	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			11	1528	-		Myeloproliferative disorder(115;0.0122)	497			Extracellular (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1490A>G	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240682	0.79912	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.02737	4.18;4.18;4.18;4.18;4.18;4.18;4.18	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	L	0.28649	0.875	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	0.995;0.999;0.994;0.992;0.995;1.0	T	0.19679	-1.0298	10	0.66056	D	0.02	-24.0114	15.1439	0.72633	0.0:0.0:0.0:1.0	.	447;82;415;450;399;497	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	G	450;415;82;497;415;447;450	ENSP00000290317:E450G;ENSP00000379648:E415G;ENSP00000403394:E82G;ENSP00000279027:E497G;ENSP00000420177:E415G;ENSP00000415852:E447G;ENSP00000419621:E450G	ENSP00000279027:E497G	E	-	2	0	SLC13A3	44628279	1.000000	0.71417	0.995000	0.50966	0.748000	0.42578	6.037000	0.70956	1.977000	0.57605	0.459000	0.35465	GAG		0.607	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			18	71	0	0	0	0.010504	0	18	71				
CSE1L	1434	broad.mit.edu	37	20	47691870	47691870	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:47691870G>C	ENST00000262982.2	+	12	1271	c.1148G>C	c.(1147-1149)cGc>cCc	p.R383P	CSE1L_ENST00000396192.3_Missense_Mutation_p.R327P|CSE1L_ENST00000542325.1_Missense_Mutation_p.R166P	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	383					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.R383P(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GATACTAGACGCAGGGCTGCT	0.373																																							uc002xty.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1147-1149)CGC>CCC		CSE1 chromosome segregation 1-like protein							99.0	96.0	97.0					20																	47691870		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47691870G>C	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1148G>C	20.37:g.47691870G>C	ENSP00000262982:p.Arg383Pro					CSE1L_uc010zyg.1_Missense_Mutation_p.R166P|CSE1L_uc010ghx.2_Missense_Mutation_p.R327P|CSE1L_uc010ghy.2_Missense_Mutation_p.R32P|CSE1L_uc010zyh.1_Missense_Mutation_p.R32P	p.R383P	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		12	1282	+			383					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1148G>C	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006452	0.93287	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.79247	-1.25;-1.25;-1.25	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	D	0.91472	0.7308	M	0.92219	3.285	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.92127	0.5709	10	0.59425	D	0.04	-8.2574	20.2664	0.98460	0.0:0.0:1.0:0.0	.	72;166;327;327;383	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	P	383;166;327	ENSP00000262982:R383P;ENSP00000446477:R166P;ENSP00000379495:R327P	ENSP00000262982:R383P	R	+	2	0	CSE1L	47125277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.786000	0.95864	0.561000	0.74099	CGC		0.373	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		13	49	0	0	0	0.003163	0	13	49				
KCNB1	3745	broad.mit.edu	37	20	47989936	47989936	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:47989936G>T	ENST00000371741.4	-	2	2327	c.2161C>A	c.(2161-2163)Cca>Aca	p.P721T		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	721					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.P721T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GAGGACTCTGGGCTCAGCACA	0.582																																							uc002xur.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(2161-2163)CCA>ACA		potassium voltage-gated channel, Shab-related							49.0	50.0	50.0					20																	47989936		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989936G>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2161C>A	20.37:g.47989936G>T	ENSP00000360806:p.Pro721Thr					KCNB1_uc002xus.1_Missense_Mutation_p.P721T	p.P721T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2325	-			721			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.2161C>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827432	0.32329	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.95756	-3.8	4.97	4.97	0.65823	.	1.269350	0.05138	N	0.493728	D	0.94866	0.8341	M	0.64997	1.995	0.80722	D	1	B	0.32101	0.356	B	0.28139	0.086	T	0.82392	-0.0480	10	0.28530	T	0.3	.	18.0323	0.89289	0.0:0.0:1.0:0.0	.	721	Q14721	KCNB1_HUMAN	T	721;676	ENSP00000360806:P721T	ENSP00000360806:P721T	P	-	1	0	KCNB1	47423343	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.430000	0.80321	2.578000	0.87016	0.655000	0.94253	CCA		0.582	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		12	31	1	0	4.36969e-10	0.001855	6.88557e-10	12	31				
KCNG1	3755	broad.mit.edu	37	20	49626751	49626751	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:49626751C>T	ENST00000371571.4	-	2	410	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	KCNG1_ENST00000396017.3_Missense_Mutation_p.R42Q|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	42					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.R42Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCGCTGCGCCCGGCGGTAGAA	0.692																																							uc002xwa.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(124-126)CGG>CAG		potassium voltage-gated channel, subfamily G,							17.0	20.0	19.0					20																	49626751		2191	4249	6440	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626751C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.125G>A	20.37:g.49626751C>T	ENSP00000360626:p.Arg42Gln					KCNG1_uc002xwb.2_Missense_Mutation_p.R42Q	p.R42Q	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	420	-			42			Cytoplasmic (Potential).		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.125G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936384	0.73442	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171;ENST00000433903;ENST00000447736	D;D;D;D	0.97994	-4.65;-2.76;-3.33;-3.66	6.0	5.05	0.67936	.	0.924980	0.09251	N	0.827869	D	0.98548	0.9515	M	0.76002	2.32	0.40454	D	0.980171	D;P	0.76494	0.999;0.953	P;P	0.61940	0.896;0.557	D	0.96362	0.9267	9	.	.	.	.	17.3653	0.87362	0.0:0.8751:0.1249:0.0	.	42;42	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	Q	42	ENSP00000360626:R42Q;ENSP00000379338:R42Q;ENSP00000394075:R42Q;ENSP00000394093:R42Q	.	R	-	2	0	KCNG1	49060158	1.000000	0.71417	0.804000	0.32291	0.406000	0.30931	7.818000	0.86416	1.545000	0.49373	-0.315000	0.08773	CGG		0.692	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		11	27	0	0	0	0.000978	0	11	27				
SALL4	57167	broad.mit.edu	37	20	50407808	50407808	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:50407808G>T	ENST00000217086.4	-	2	1325	c.1214C>A	c.(1213-1215)aCt>aAt	p.T405N	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	405					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T405N(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCTCTCCAGTGTGGGAGCG	0.542																																							uc002xwh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1213-1215)ACT>AAT		sal-like 4							66.0	56.0	60.0					20																	50407808		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407808G>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1214C>A	20.37:g.50407808G>T	ENSP00000217086:p.Thr405Asn					SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	p.T405N	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	1315	-			405					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1214C>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991357	0.74703	.	.	ENSG00000101115	ENST00000217086	T	0.26067	1.76	5.29	4.33	0.51752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.328846	0.22294	N	0.061957	T	0.47728	0.1461	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.50372	-0.8836	10	0.72032	D	0.01	-7.025	15.9992	0.80275	0.0:0.1348:0.8652:0.0	.	405	Q9UJQ4	SALL4_HUMAN	N	405	ENSP00000217086:T405N	ENSP00000217086:T405N	T	-	2	0	SALL4	49841215	1.000000	0.71417	0.922000	0.36590	0.997000	0.91878	9.808000	0.99193	1.212000	0.43366	0.655000	0.94253	ACT		0.542	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			8	37	1	0	1.06961e-07	0.00308	1.54041e-07	8	37				
TSHZ2	128553	broad.mit.edu	37	20	51870390	51870390	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:51870390C>A	ENST00000371497.5	+	2	1280	c.393C>A	c.(391-393)aaC>aaA	p.N131K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.N128K|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.N128K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	131					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N131K(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCTACGCCAACATCCTGTCGG	0.527																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(391-393)AAC>AAA		teashirt zinc finger homeobox 2							82.0	73.0	76.0					20																	51870390		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870390C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.393C>A	20.37:g.51870390C>A	ENSP00000360552:p.Asn131Lys						p.N131K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1349	+			131					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.393C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009808	0.75046	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.18174	2.24;2.23	5.7	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.37314	-0.9711	10	0.87932	D	0	-26.8108	14.3551	0.66733	0.0:0.9291:0.0:0.0709	.	131	Q9NRE2	TSH2_HUMAN	K	131;128	ENSP00000360552:N131K;ENSP00000333114:N128K	ENSP00000333114:N128K	N	+	3	2	TSHZ2	51303797	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.797000	0.55514	1.405000	0.46838	0.643000	0.83706	AAC		0.527	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		7	21	1	0	2.0095e-06	0.001984	2.69165e-06	7	21				
TSHZ2	128553	broad.mit.edu	37	20	51871070	51871070	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:51871070A>C	ENST00000371497.5	+	2	1960	c.1073A>C	c.(1072-1074)aAc>aCc	p.N358T	TSHZ2_ENST00000603338.2_Missense_Mutation_p.N355T|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.N355T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	358					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N358T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAACAACCGCTATGGC	0.502																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1072-1074)AAC>ACC		teashirt zinc finger homeobox 2							67.0	72.0	70.0					20																	51871070		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871070A>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1073A>C	20.37:g.51871070A>C	ENSP00000360552:p.Asn358Thr						p.N358T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2029	+			358					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1073A>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702187	0.48307	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16324	2.35;2.36	5.68	4.59	0.56863	.	0.043752	0.85682	D	0.000000	T	0.18841	0.0452	M	0.69358	2.11	0.58432	D	0.999993	P	0.36144	0.539	B	0.31390	0.129	T	0.01791	-1.1273	10	0.59425	D	0.04	-16.4489	11.2893	0.49241	0.9289:0.0:0.071:0.0	.	358	Q9NRE2	TSH2_HUMAN	T	358;355	ENSP00000360552:N358T;ENSP00000333114:N355T	ENSP00000333114:N355T	N	+	2	0	TSHZ2	51304477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.156000	0.77453	0.990000	0.38787	0.523000	0.50628	AAC		0.502	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		14	65	0	0	0	0.00245	0	14	65				
C20orf85	128602	broad.mit.edu	37	20	56728608	56728608	+	Missense_Mutation	SNP	G	G	T	rs16984945	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:56728608G>T	ENST00000371168.3	+	2	138	c.77G>T	c.(76-78)cGt>cTt	p.R26L		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	26			R -> H (in dbSNP:rs16984945).					p.R26L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGGAAATACCGTCTGAAGGCT	0.483																																							uc002xyv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)CGT>CTT		hypothetical protein LOC128602							99.0	103.0	102.0					20																	56728608		2203	4300	6503	SO:0001583	missense	128602							g.chr20:56728608G>T	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.77G>T	20.37:g.56728608G>T	ENSP00000360210:p.Arg26Leu						p.R26L	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		2	115	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		26						Missense_Mutation	SNP	ENST00000371168.3	37	c.77G>T	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564625	0.45694	.	.	ENSG00000124237	ENST00000371168	T	0.25414	1.8	5.82	4.87	0.63330	.	0.106722	0.46758	D	0.000272	T	0.27866	0.0686	L	0.31207	0.915	0.36737	D	0.882019	D	0.57257	0.979	P	0.56042	0.79	T	0.09618	-1.0666	10	0.51188	T	0.08	-10.1333	6.9718	0.24652	0.1825:0.0:0.8175:0.0	.	26	Q9H1P6	CT085_HUMAN	L	26	ENSP00000360210:R26L	ENSP00000360210:R26L	R	+	2	0	C20orf85	56162014	0.060000	0.20803	0.998000	0.56505	0.808000	0.45660	1.285000	0.33261	2.760000	0.94817	0.655000	0.94253	CGT		0.483	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		25	116	1	0	3.65163e-15	0.00632	6.37502e-15	25	116				
ZNF831	128611	broad.mit.edu	37	20	57766700	57766700	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:57766700C>T	ENST00000371030.2	+	1	626	c.626C>T	c.(625-627)gCc>gTc	p.A209V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	209							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A209V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCGAGGGCGCCGGGGGCGGC	0.677																																							uc002yan.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(625-627)GCC>GTC		zinc finger protein 831							29.0	36.0	34.0					20																	57766700		1905	4110	6015	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766700C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.626C>T	20.37:g.57766700C>T	ENSP00000360069:p.Ala209Val						p.A209V	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	626	+	all_lung(29;0.0085)		209					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.626C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	6.032	0.374180	0.11409	.	.	ENSG00000124203	ENST00000371030	T	0.05382	3.45	4.68	-4.54	0.03452	.	.	.	.	.	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.31153	0.31	B	0.28011	0.085	T	0.32981	-0.9886	9	0.41790	T	0.15	-0.0661	15.7632	0.78103	0.0703:0.7067:0.223:0.0	.	209	Q5JPB2	ZN831_HUMAN	V	209	ENSP00000360069:A209V	ENSP00000360069:A209V	A	+	2	0	ZNF831	57200095	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	0.588000	0.23924	-0.617000	0.05664	-1.104000	0.02111	GCC		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		15	50	0	0	0	0.00499	0	15	50				
EDN3	1908	broad.mit.edu	37	20	57896099	57896099	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:57896099C>A	ENST00000337938.2	+	3	779	c.393C>A	c.(391-393)aaC>aaA	p.N131K	EDN3_ENST00000371028.2_Missense_Mutation_p.N131K|EDN3_ENST00000371025.3_Missense_Mutation_p.N131K|EDN3_ENST00000311585.7_Missense_Mutation_p.N131K|EDN3_ENST00000395654.3_Missense_Mutation_p.N131K	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	131					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.N131K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GACTGTCCAACTACAGAGGAA	0.612																																							uc002yap.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(391-393)AAC>AAA		endothelin 3 isoform 1 preproprotein							90.0	78.0	82.0					20																	57896099		2203	4300	6503	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57896099C>A	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.393C>A	20.37:g.57896099C>A	ENSP00000337128:p.Asn131Lys					EDN3_uc002yao.1_Missense_Mutation_p.N131K|EDN3_uc002yaq.2_Missense_Mutation_p.N131K|EDN3_uc002yar.2_Missense_Mutation_p.N131K|EDN3_uc002yas.2_Missense_Mutation_p.N131K	p.N131K	NM_000114	NP_000105	P14138	EDN3_HUMAN			3	762	+	all_lung(29;0.0115)		131					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.393C>A	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754698	0.69648	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	4.76	1.65	0.23941	.	0.178958	0.45867	D	0.000322	D	0.88851	0.6549	L	0.58810	1.83	0.29610	N	0.847006	D;D;D;D	0.65815	0.995;0.984;0.992;0.989	P;P;P;P	0.61800	0.894;0.59;0.786;0.759	D	0.83404	0.0024	10	0.72032	D	0.01	-31.4952	7.715	0.28700	0.0:0.7067:0.0:0.2933	.	131;131;131;131	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	K	131	ENSP00000337128:N131K;ENSP00000311854:N131K;ENSP00000360067:N131K;ENSP00000360064:N131K;ENSP00000379015:N131K	ENSP00000311854:N131K	N	+	3	2	EDN3	57329494	0.997000	0.39634	0.826000	0.32828	0.952000	0.60782	0.553000	0.23391	0.529000	0.28599	0.561000	0.74099	AAC		0.612	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		10	42	1	0	0.000978159	0.000978	0.00109807	10	42				
SYCP2	10388	broad.mit.edu	37	20	58490245	58490245	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:58490245C>A	ENST00000357552.3	-	10	834	c.609G>T	c.(607-609)atG>atT	p.M203I	SYCP2_ENST00000371001.2_Missense_Mutation_p.M203I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	203					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.M203I(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCTTTCTCCCATACTACTCC	0.279																																							uc002yaz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(607-609)ATG>ATT		synaptonemal complex protein 2							64.0	74.0	71.0					20																	58490245		2195	4280	6475	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58490245C>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.609G>T	20.37:g.58490245C>A	ENSP00000350162:p.Met203Ile					SYCP2_uc010gju.1_Missense_Mutation_p.M104I	p.M203I	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		9	748	-	all_lung(29;0.00344)		203					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.609G>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592415	0.66219	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04194	3.68;3.68;3.68	5.5	5.5	0.81552	.	0.139167	0.50627	D	0.000106	T	0.18923	0.0454	M	0.68317	2.08	0.32082	N	0.593033	D;P	0.71674	0.998;0.908	D;P	0.78314	0.991;0.492	T	0.01899	-1.1251	10	0.62326	D	0.03	-10.8578	13.7325	0.62797	0.0:0.9236:0.0:0.0764	.	203;203	A2A341;Q9BX26	.;SYCP2_HUMAN	I	203	ENSP00000360040:M203I;ENSP00000350162:M203I;ENSP00000402456:M203I	ENSP00000350162:M203I	M	-	3	0	SYCP2	57923640	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.302000	0.43637	2.589000	0.87451	0.591000	0.81541	ATG		0.279	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		17	102	1	0	1.99824e-07	0.00499	2.83847e-07	17	102				
CDH4	1002	broad.mit.edu	37	20	60419857	60419857	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:60419857G>T	ENST00000360469.5	+	5	798	c.710G>T	c.(709-711)cGg>cTg	p.R237L	CDH4_ENST00000543233.1_Missense_Mutation_p.R163L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	237	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R237L(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCATGGACCGGGAGGAGCAC	0.662																																							uc002ybn.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(709-711)CGG>CTG		cadherin 4, type 1 preproprotein							59.0	50.0	53.0					20																	60419857		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60419857G>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.710G>T	20.37:g.60419857G>T	ENSP00000353656:p.Arg237Leu					CDH4_uc002ybp.1_Missense_Mutation_p.R163L	p.R237L	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		5	724	+			237			Cadherin 1.|Extracellular (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.710G>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504286	0.85176	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.59638	0.25;0.25	3.68	3.68	0.42216	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83459	0.5259	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90018	0.4126	9	.	.	.	.	15.7299	0.77792	0.0:0.0:1.0:0.0	.	237	P55283	CADH4_HUMAN	L	237;145;163	ENSP00000353656:R237L;ENSP00000443301:R163L	.	R	+	2	0	CDH4	59853252	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.440000	0.97547	1.753000	0.51906	0.313000	0.20887	CGG		0.662	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		7	13	1	0	0.00448238	0.004482	0.00486678	7	13				
HRH3	11255	broad.mit.edu	37	20	60791954	60791954	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:60791954G>T	ENST00000340177.5	-	3	730	c.446C>A	c.(445-447)aCg>aAg	p.T149K	HRH3_ENST00000317393.6_Missense_Mutation_p.T149K	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	149					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)	p.T149K(1)		breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	TGCCCGCCGCGTGTCACCCTG	0.682																																							uc002ycf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(445-447)ACG>AAG		histamine receptor H3	Histamine Phosphate(DB00667)						26.0	27.0	26.0					20																	60791954		2202	4294	6496	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791954G>T	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.446C>A	20.37:g.60791954G>T	ENSP00000342560:p.Thr149Lys					HRH3_uc002ycg.2_Missense_Mutation_p.T149K|HRH3_uc002ych.2_Missense_Mutation_p.T149K|HRH3_uc002yci.2_Missense_Mutation_p.T149K	p.T149K	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		3	743	-	Breast(26;7.76e-09)		149			Cytoplasmic (Potential).		Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.446C>A	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434949	0.62955	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.69685	-0.42;-0.42	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.051814	0.85682	D	0.000000	T	0.72914	0.3520	L	0.51422	1.61	0.52501	D	0.99995	D;P;B;B	0.76494	0.999;0.791;0.118;0.118	D;B;B;B	0.65323	0.934;0.408;0.154;0.154	T	0.67496	-0.5656	10	0.15499	T	0.54	-34.48	13.9127	0.63878	0.0:0.1528:0.8472:0.0	.	149;149;149;149	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	K	149	ENSP00000342560:T149K;ENSP00000321482:T149K	ENSP00000321482:T149K	T	-	2	0	HRH3	60225349	1.000000	0.71417	0.976000	0.42696	0.488000	0.33401	6.147000	0.71783	2.360000	0.80028	0.393000	0.25936	ACG		0.682	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		3	21	1	0	0.000602214	0.000602	0.000682885	3	21				
STMN3	50861	broad.mit.edu	37	20	62273466	62273466	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:62273466C>T	ENST00000370053.1	-	4	559	c.478G>A	c.(478-480)Gag>Aag	p.E160K	STMN3_ENST00000540534.1_Missense_Mutation_p.E149K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	160	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)	p.E160K(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCACCTTCTCGCGCAGCCGC	0.756																																							uc002yfr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GAG>AAG		SCG10-like-protein							13.0	13.0	13.0					20																	62273466		2181	4279	6460	SO:0001583	missense	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62273466C>T	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.478G>A	20.37:g.62273466C>T	ENSP00000359070:p.Glu160Lys					STMN3_uc011abb.1_Missense_Mutation_p.E160K	p.E160K	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		4	560	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		160			Potential.		B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	37	c.478G>A	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.013305	0.75161	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.27	5.27	0.74061	.	0.178523	0.34156	U	0.004207	D	0.84465	0.5478	M	0.87971	2.92	0.58432	D	0.999999	D	0.76494	0.999	D	0.76071	0.987	D	0.86058	0.1530	9	0.51188	T	0.08	-8.596	18.931	0.92566	0.0:1.0:0.0:0.0	.	160	Q9NZ72	STMN3_HUMAN	K	160;149	.	ENSP00000359070:E160K	E	-	1	0	STMN3	61743910	1.000000	0.71417	0.982000	0.44146	0.028000	0.11728	5.765000	0.68834	2.474000	0.83562	0.580000	0.79431	GAG		0.756	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		5	8	0	0	0	0.000602	0	5	8				
BAGE2	85319	broad.mit.edu	37	21	11049609	11049609	+	RNA	SNP	G	G	T	rs575131966	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:11049609G>T	ENST00000470054.1	-	0	499							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCACAGTTTGCATCTTCCTT	0.378																																							uc002yit.1		NA																	0					0						c.(292-294)CAA>AAA		B melanoma antigen family, member 2 precursor							123.0	88.0	99.0					21																	11049609		692	1591	2283			85319							g.chr21:11049609G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049609G>T							p.Q98K	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	4	500	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.292C>A																																																																																					0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	122	1	0	5.4927e-09	0.004482	8.34799e-09	8	122				
ADAMTS5	11096	broad.mit.edu	37	21	28315712	28315712	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:28315712C>T	ENST00000284987.5	-	3	1513	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	464	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L464L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGCCATCATCCAGGAATTCTG	0.403																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1390-1392)CTG>CTA		ADAM metallopeptidase with thrombospondin type 1							106.0	88.0	94.0					21																	28315712		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28315712C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1392G>A	21.37:g.28315712C>T							p.L464L	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			3	2121	-			464			Peptidase M12B.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1392G>A	CCDS13579.1																																																																																				0.403	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			11	13	0	0	0	0.008291	0	11	13				
KRTAP27-1	643812	broad.mit.edu	37	21	31709507	31709507	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:31709507T>G	ENST00000382835.2	-	1	505	c.480A>C	c.(478-480)caA>caC	p.Q160H		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	160						intermediate filament (GO:0005882)		p.Q160H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GACACTGACATTGGCTAGATG	0.493																																							uc002ynx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(478-480)CAA>CAC		keratin associated protein 27-1							139.0	134.0	136.0					21																	31709507		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709507T>G	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.480A>C	21.37:g.31709507T>G	ENSP00000372286:p.Gln160His						p.Q160H	NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN			1	506	-			160						Missense_Mutation	SNP	ENST00000382835.2	37	c.480A>C	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	T	9.946	1.218770	0.22373	.	.	ENSG00000206107	ENST00000382835	T	0.03301	3.98	4.44	-2.59	0.06209	.	0.816179	0.10474	N	0.670448	T	0.11367	0.0277	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.10428	-1.0630	10	0.42905	T	0.14	-5.9902	9.7013	0.40189	0.0:0.566:0.0:0.434	.	160	Q3LI81	KR271_HUMAN	H	160	ENSP00000372286:Q160H	ENSP00000372286:Q160H	Q	-	3	2	KRTAP27-1	30631378	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	-0.258000	0.08733	-0.436000	0.07254	-0.386000	0.06593	CAA		0.493	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		12	90	0	0	0	0.000978	0	12	90				
KRTAP13-4	284827	broad.mit.edu	37	21	31802904	31802904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:31802904C>A	ENST00000334068.2	+	1	333	c.311C>A	c.(310-312)tCg>tAg	p.S104*		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	104						intermediate filament (GO:0005882)		p.S104*(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TGCTGCTACTCGCTGGGAAAT	0.527																																					NSCLC(196;2401 3038 18004 35753)	NSCLC(196;2401 3038 18004 35753)	uc011acw.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(310-312)TCG>TAG		keratin associated protein 13-4							100.0	83.0	89.0					21																	31802904		2203	4300	6503	SO:0001587	stop_gained	284827					intermediate filament		g.chr21:31802904C>A	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.311C>A	21.37:g.31802904C>A	ENSP00000334834:p.Ser104*						p.S104*	NM_181600	NP_853631	Q3LI77	KR134_HUMAN			1	311	+			104					A2RRL3	Nonsense_Mutation	SNP	ENST00000334068.2	37	c.311C>A	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	16.70	3.194654	0.58017	.	.	ENSG00000186971	ENST00000334068	.	.	.	4.85	4.85	0.62838	.	0.361502	0.20014	N	0.101058	.	.	.	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.195	0.65664	0.0:1.0:0.0:0.0	.	.	.	.	X	104	.	ENSP00000334834:S104X	S	+	2	0	KRTAP13-4	30724775	0.000000	0.05858	0.012000	0.15200	0.041000	0.13682	0.250000	0.18235	2.608000	0.88229	0.650000	0.86243	TCG		0.527	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			11	14	1	0	6.40141e-05	0.000978	7.85211e-05	11	14				
KRTAP19-4	337971	broad.mit.edu	37	21	31869266	31869266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:31869266C>A	ENST00000334058.2	-	1	185	c.163G>T	c.(163-165)Gga>Tga	p.G55*		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	55						intermediate filament (GO:0005882)		p.G55*(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCATATCCTCCATAGCATGAT	0.463																																							uc011acz.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(163-165)GGA>TGA		keratin associated protein 19-4							135.0	137.0	137.0					21																	31869266		2203	4300	6503	SO:0001587	stop_gained	337971					intermediate filament		g.chr21:31869266C>A	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.163G>T	21.37:g.31869266C>A	ENSP00000335567:p.Gly55*						p.G55*	NM_181610	NP_853641	Q3LI73	KR194_HUMAN			1	163	-			55					Q17RT4|Q17RT6	Nonsense_Mutation	SNP	ENST00000334058.2	37	c.163G>T	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674765	0.47781	.	.	ENSG00000186967	ENST00000334058	.	.	.	4.03	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.35386	D	0.790318	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.5452	0.27761	0.0:0.8838:0.0:0.1162	.	.	.	.	X	55	.	ENSP00000335567:G55X	G	-	1	0	KRTAP19-4	30791137	0.000000	0.05858	0.005000	0.12908	0.211000	0.24417	-0.549000	0.06041	1.268000	0.44264	0.591000	0.81541	GGA		0.463	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			32	74	1	0	1.836e-18	0.003755	3.3541e-18	32	74				
MX2	4600	broad.mit.edu	37	21	42778787	42778787	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:42778787G>A	ENST00000330714.3	+	13	1951	c.1767G>A	c.(1765-1767)ctG>ctA	p.L589L		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	589					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L589L(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTGTTGTTCTGAAGAAAGTCC	0.403																																							uc002yzf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1765-1767)CTG>CTA		myxovirus resistance protein 2							146.0	139.0	141.0					21																	42778787		2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42778787G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1767G>A	21.37:g.42778787G>A						MX2_uc002yzg.1_Silent_p.L312L|MX2_uc010gop.1_Silent_p.L71L	p.L589L	NM_002463	NP_002454	P20592	MX2_HUMAN			13	1871	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	589					B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.1767G>A	CCDS13672.1																																																																																				0.403	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		8	56	0	0	0	0.006214	0	8	56				
MX1	4599	broad.mit.edu	37	21	42824753	42824753	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:42824753C>G	ENST00000398600.2	+	18	2740	c.1715C>G	c.(1714-1716)tCt>tGt	p.S572C	MX1_ENST00000398598.3_Missense_Mutation_p.S572C|MX1_ENST00000455164.2_Missense_Mutation_p.S572C|MX1_ENST00000288383.6_Missense_Mutation_p.S549C	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	572	Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S572C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCAACAGACTCTTCCATGGAG	0.502																																							uc002yzh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1714-1716)TCT>TGT		myxovirus resistance protein 1							184.0	190.0	188.0					21																	42824753		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42824753C>G		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1715C>G	21.37:g.42824753C>G	ENSP00000381601:p.Ser572Cys					MX1_uc002yzi.2_Missense_Mutation_p.S572C|MX1_uc010goq.2_Missense_Mutation_p.S572C	p.S572C	NM_001144925	NP_001138397	P20591	MX1_HUMAN			18	2662	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	572					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1715C>G	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391139	0.25118	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.21	2.2	0.27929	Dynamin GTPase effector (2);	1.845780	0.03195	N	0.173948	T	0.50222	0.1603	L	0.58428	1.81	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.39542	-0.9609	10	0.59425	D	0.04	-0.2742	5.1161	0.14834	0.0:0.6706:0.2137:0.1157	.	572	P20591	MX1_HUMAN	C	572;572;572;549	ENSP00000381601:S572C;ENSP00000381599:S572C;ENSP00000410523:S572C;ENSP00000288383:S549C	ENSP00000288383:S549C	S	+	2	0	MX1	41746623	0.000000	0.05858	0.006000	0.13384	0.134000	0.20937	-0.621000	0.05559	1.063000	0.40649	0.655000	0.94253	TCT		0.502	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			35	148	0	0	0	0.006999	0	35	148				
UMODL1	89766	broad.mit.edu	37	21	43531672	43531672	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:43531672C>A	ENST00000408910.2	+	12	1956	c.1956C>A	c.(1954-1956)ccC>ccA	p.P652P	UMODL1_ENST00000400427.1_Silent_p.P708P|UMODL1_ENST00000400424.2_Silent_p.P580P|UMODL1_ENST00000408989.2_Silent_p.P780P	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	652					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.P780P(1)|p.P580P(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGAGGACCCCACCGGCCACT	0.627																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(1954-1956)CCC>CCA		uromodulin-like 1 isoform 1 precursor							46.0	54.0	51.0					21																	43531672		1985	4151	6136	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43531672C>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1956C>A	21.37:g.43531672C>A						UMODL1_uc002zad.1_Silent_p.P580P|UMODL1_uc002zae.1_Silent_p.P708P|UMODL1_uc002zag.1_Silent_p.P780P	p.P652P	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			12	1956	+			652			Extracellular (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.1956C>A	CCDS42936.1																																																																																				0.627	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	35	1	0	1.23904e-05	0.000602	1.57558e-05	5	35				
ITGB2	3689	broad.mit.edu	37	21	46308663	46308663	+	Silent	SNP	C	C	A	rs369283897		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:46308663C>A	ENST00000397850.2	-	15	2477	c.2025G>T	c.(2023-2025)acG>acT	p.T675T	ITGB2_ENST00000355153.4_Silent_p.T675T|ITGB2_ENST00000397857.1_Silent_p.T675T|ITGB2_ENST00000302347.5_Silent_p.T675T|ITGB2_ENST00000397852.1_Silent_p.T675T|ITGB2_ENST00000397854.3_Silent_p.T618T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	675					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.T675T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCTGCTCCAGCGTGTAGGCCA	0.677																																							uc002zgd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(2023-2025)ACG>ACT		integrin, beta 2 precursor	Simvastatin(DB00641)						84.0	75.0	78.0					21																	46308663		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46308663C>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.2025G>T	21.37:g.46308663C>A						ITGB2_uc002zge.2_Silent_p.T675T|ITGB2_uc002zgf.3_Silent_p.T675T|ITGB2_uc011afl.1_Silent_p.T597T|ITGB2_uc010gpw.2_Silent_p.T618T|ITGB2_uc002zgg.2_Silent_p.T675T	p.T675T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	13	2069	-			675			Extracellular (Potential).		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.2025G>T	CCDS13716.1																																																																																				0.677	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		8	33	1	0	0.00621372	0.006214	0.00666704	8	33				
POTEH	23784	broad.mit.edu	37	22	16287779	16287779	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:16287779C>A	ENST00000343518.6	-	1	158	c.107G>T	c.(106-108)aGg>aTg	p.R36M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	36										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCCGCTCCCCCTGCACCAGGC	0.587																																							uc010gqp.2		NA																	0				skin(1)	1						c.(106-108)AGG>ATG		ANKRD26-like family C, member 3							101.0	122.0	115.0					22																	16287779		1978	3782	5760	SO:0001583	missense	23784							g.chr22:16287779C>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.107G>T	22.37:g.16287779C>A	ENSP00000340610:p.Arg36Met					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Translation_Start_Site	p.R36M	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	159	-			36					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.107G>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.212	1.031060	0.19590	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.35789	1.29	.	.	.	.	.	.	.	.	T	0.29684	0.0741	L	0.27053	0.805	0.09310	N	1	D	0.54207	0.965	P	0.49502	0.613	T	0.16188	-1.0411	7	0.87932	D	0	.	.	.	.	.	36	Q6S545	POTEH_HUMAN	M	36	ENSP00000340610:R36M	ENSP00000340610:R36M	R	-	2	0	POTEH	14667779	0.005000	0.15991	0.017000	0.16124	0.017000	0.09413	0.904000	0.28491	0.073000	0.16731	0.074000	0.15403	AGG		0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		12	145	1	0	2.27111e-07	0.001368	3.21042e-07	12	145				
MED15	51586	broad.mit.edu	37	22	20891465	20891465	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:20891465C>T	ENST00000263205.7	+	2	199	c.130C>T	c.(130-132)Cat>Tat	p.H44Y	MED15_ENST00000406969.1_Missense_Mutation_p.H18Y|MED15_ENST00000382974.2_Missense_Mutation_p.H44Y|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.H4Y|MED15_ENST00000541476.1_Missense_Mutation_p.H18Y|MED15_ENST00000292733.7_Missense_Mutation_p.H44Y	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	44	Interaction with SREBF1.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.H44Y(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TATGGAGAGCCATGTTTTCCT	0.527																																							uc002zsp.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(130-132)CAT>TAT		mediator complex subunit 15 isoform a							164.0	137.0	146.0					22																	20891465		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20891465C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.130C>T	22.37:g.20891465C>T	ENSP00000263205:p.His44Tyr					MED15_uc002zsn.1_5'UTR|MED15_uc002zso.2_Missense_Mutation_p.H44Y|MED15_uc002zsq.2_Missense_Mutation_p.H44Y|MED15_uc010gso.2_Missense_Mutation_p.H44Y|MED15_uc002zsr.2_Missense_Mutation_p.H18Y|MED15_uc011ahs.1_Missense_Mutation_p.H18Y|MED15_uc011aht.1_Missense_Mutation_p.H18Y	p.H44Y	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		2	210	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	44			Interaction with SREBF1.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.130C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833373	0.71258	.	.	ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000432052;ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000438962;ENST00000445189;ENST00000542312;ENST00000451058	.	.	.	5.7	4.68	0.58851	Mediator complex, subunit Med15, metazoa (1);	0.100802	0.64402	D	0.000002	T	0.59756	0.2217	M	0.65975	2.015	0.80722	D	1	B;B;B;B;B	0.15141	0.012;0.001;0.01;0.012;0.003	B;B;B;B;B	0.14578	0.011;0.004;0.006;0.007;0.007	T	0.61959	-0.6955	9	0.87932	D	0	.	11.7071	0.51603	0.0:0.9154:0.0:0.0846	.	63;18;44;44;44	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;MED15_HUMAN;.	Y	18;18;18;4;44;44;18;44;18;118;18;18;18	.	ENSP00000263205:H44Y	H	+	1	0	MED15	19221465	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.408000	0.59761	2.703000	0.92315	0.655000	0.94253	CAT		0.527	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		5	15	0	0	0	0.001984	0	5	15				
LZTR1	8216	broad.mit.edu	37	22	21348288	21348288	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:21348288G>C	ENST00000215739.8	+	13	1788	c.1429G>C	c.(1429-1431)Gcg>Ccg	p.A477P	LZTR1_ENST00000389355.3_Missense_Mutation_p.A458P|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	477	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A477P(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GATCACGCAGGCGCGGGAGAG	0.647																																							uc002zto.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(1429-1431)GCG>CCG		leucine-zipper-like transcription regulator 1							29.0	32.0	31.0					22																	21348288		2202	4299	6501	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21348288G>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1429G>C	22.37:g.21348288G>C	ENSP00000215739:p.Ala477Pro					LZTR1_uc002ztn.2_Missense_Mutation_p.A436P|LZTR1_uc011ahy.1_Missense_Mutation_p.A458P|LZTR1_uc010gsr.1_Missense_Mutation_p.A348P|LZTR1_uc002ztp.2_5'Flank	p.A477P	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		13	1532	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	477			BTB 1.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1429G>C	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423519	0.83559	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.66995	-0.24;-0.24	5.57	5.57	0.84162	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.81361	0.4806	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.87578	0.99;0.989;0.958;0.998	T	0.82410	-0.0471	10	0.62326	D	0.03	-26.1875	17.0368	0.86478	0.0:0.0:1.0:0.0	.	458;436;477;436	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	P	436;477;458	ENSP00000215739:A477P;ENSP00000374006:A458P	ENSP00000215739:A477P	A	+	1	0	LZTR1	19678288	1.000000	0.71417	0.995000	0.50966	0.197000	0.23852	9.516000	0.98017	2.615000	0.88500	0.557000	0.71058	GCG		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		5	11	0	0	0	0.001168	0	5	11				
HPS4	89781	broad.mit.edu	37	22	26872994	26872994	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:26872994T>A	ENST00000398145.2	-	4	857	c.241A>T	c.(241-243)Aag>Tag	p.K81*	HPS4_ENST00000336873.5_Nonsense_Mutation_p.K81*|HPS4_ENST00000398141.1_Nonsense_Mutation_p.K76*|HPS4_ENST00000402105.3_Nonsense_Mutation_p.K76*	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	81					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.K76*(1)|p.K81*(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATGGCAAACTTCAGTTTTCTC	0.413									Hermansky-Pudlak syndrome																														uc003acl.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(241-243)AAG>TAG		light ear protein isoform a							91.0	83.0	86.0					22																	26872994		2203	4300	6503	SO:0001587	stop_gained	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26872994T>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.241A>T	22.37:g.26872994T>A	ENSP00000381213:p.Lys81*					HPS4_uc003aci.2_Nonsense_Mutation_p.K76*|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Nonsense_Mutation_p.K81*|HPS4_uc003aco.1_Nonsense_Mutation_p.K76*	p.K81*	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			4	900	-			81					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Nonsense_Mutation	SNP	ENST00000398145.2	37	c.241A>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954210	0.73902	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.0719	14.4442	0.67338	0.0:0.0:0.0:1.0	.	.	.	.	X	81;76;76;81;81;81	.	ENSP00000325840:K81X	K	-	1	0	HPS4	25202994	1.000000	0.71417	0.933000	0.37362	0.163000	0.22366	6.141000	0.71744	2.279000	0.76181	0.533000	0.62120	AAG		0.413	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		14	22	0	0	0	0.004007	0	14	22				
APOL3	80833	broad.mit.edu	37	22	36556806	36556806	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:36556806C>T	ENST00000349314.2	-	1	171	c.134G>A	c.(133-135)gGt>gAt	p.G45D	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000424878.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	45					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)	p.G45D(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCATAATAACCAGACACGTT	0.488																																							uc003aot.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(133-135)GGT>GAT		apolipoprotein L3 isoform 1							146.0	121.0	129.0					22																	36556806		2203	4300	6503	SO:0001583	missense	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36556806C>T	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.134G>A	22.37:g.36556806C>T	ENSP00000344577:p.Gly45Asp					APOL3_uc003aoq.2_5'UTR|APOL3_uc003aor.2_5'UTR|APOL3_uc003aos.2_5'UTR|APOL3_uc003aou.2_5'UTR|APOL3_uc003aov.2_5'UTR	p.G45D	NM_145640	NP_663615	O95236	APOL3_HUMAN			1	172	-			45					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	c.134G>A	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921728	0.17982	.	.	ENSG00000128284	ENST00000349314;ENST00000531095	T;T	0.72725	3.32;-0.68	2.54	1.46	0.22682	.	4.039330	0.02236	U	0.065278	T	0.69860	0.3158	N	0.08118	0	0.21105	N	0.999786	D	0.89917	1.0	D	0.72075	0.976	T	0.62105	-0.6924	10	0.54805	T	0.06	.	7.1227	0.25454	0.0:0.7184:0.2816:0.0	.	45	O95236	APOL3_HUMAN	D	45;9	ENSP00000344577:G45D;ENSP00000432271:G9D	ENSP00000344577:G45D	G	-	2	0	APOL3	34886752	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.546000	0.06062	0.607000	0.29982	0.603000	0.83216	GGT		0.488	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		8	40	0	0	0	0.004482	0	8	40				
CACNA1I	8911	broad.mit.edu	37	22	40068257	40068257	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:40068257G>A	ENST00000402142.3	+	27	4593	c.4593G>A	c.(4591-4593)gtG>gtA	p.V1531V	CACNA1I_ENST00000407673.1_Silent_p.V1496V|CACNA1I_ENST00000404898.1_Silent_p.V1496V|CACNA1I_ENST00000400164.3_Silent_p.V1496V|CACNA1I_ENST00000336649.4_Silent_p.V1537V|CACNA1I_ENST00000401624.1_Silent_p.V1531V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1531					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V1531V(1)|p.V1496V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGTCTTTGTGCTGGAGGCTG	0.532																																							uc003ayc.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(4591-4593)GTG>GTA		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						272.0	273.0	272.0					22																	40068257		2106	4234	6340	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40068257G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4593G>A	22.37:g.40068257G>A						CACNA1I_uc003ayd.2_Silent_p.V1496V|CACNA1I_uc003aye.2_Silent_p.V1446V|CACNA1I_uc003ayf.2_Silent_p.V1411V	p.V1531V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			27	4593	+	Melanoma(58;0.0749)		1531			Helical; Name=S2 of repeat IV; (Potential).|IV.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.4593G>A	CCDS46710.1																																																																																				0.532	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		47	120	0	0	0	0.00361	0	47	120				
ENTHD1	150350	broad.mit.edu	37	22	40283562	40283562	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:40283562T>A	ENST00000325157.6	-	2	441	c.191A>T	c.(190-192)cAt>cTt	p.H64L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	64	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.H64L(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTTCTTCCCATGGTCATTGAG	0.418																																							uc003ayg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(190-192)CAT>CTT		ENTH domain containing 1							168.0	168.0	168.0					22																	40283562		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40283562T>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.191A>T	22.37:g.40283562T>A	ENSP00000317431:p.His64Leu						p.H64L	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			2	442	-	Melanoma(58;0.0749)		64			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.191A>T	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437078	0.83885	.	.	ENSG00000176177	ENST00000325157	T	0.43688	0.94	5.42	5.42	0.78866	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.234315	0.37577	N	0.002027	T	0.64136	0.2571	M	0.89840	3.065	0.44030	D	0.996759	D	0.60160	0.987	P	0.58210	0.835	T	0.71523	-0.4567	10	0.66056	D	0.02	-14.9735	10.4994	0.44796	0.0:0.0824:0.0:0.9176	.	64	Q8IYW4	ENTD1_HUMAN	L	64	ENSP00000317431:H64L	ENSP00000317431:H64L	H	-	2	0	ENTHD1	38613508	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.085000	0.57657	2.183000	0.69458	0.533000	0.62120	CAT		0.418	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		24	82	0	0	0	0.00333	0	24	82				
ZC3H7B	23264	broad.mit.edu	37	22	41737150	41737150	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:41737150G>A	ENST00000352645.4	+	11	1454	c.1197G>A	c.(1195-1197)tcG>tcA	p.S399S	ZC3H7B_ENST00000351589.4_Splice_Site_p.S399S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	415					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S399S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAGCCCCCTCGGTGAGTGACT	0.612																																							uc003azw.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1195-1197)TCG>TCA		zinc finger CCCH-type containing 7B							79.0	74.0	76.0					22																	41737150		2203	4300	6503	SO:0001630	splice_region_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41737150G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1197+1G>A	22.37:g.41737150G>A						ZC3H7B_uc010gyl.1_Intron	p.S399S	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			11	1413	+			415					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.1197G>A	CCDS14013.1																																																																																				0.612	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590	Silent	7	23	0	0	0	0.00308	0	7	23				
XRCC6	2547	broad.mit.edu	37	22	42024183	42024183	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:42024183G>A	ENST00000359308.4	+	2	799	c.144G>A	c.(142-144)atG>atA	p.M48I	XRCC6_ENST00000402580.3_Missense_Mutation_p.M48I|XRCC6_ENST00000360079.3_Missense_Mutation_p.M48I|XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000428575.2_Intron|XRCC6_ENST00000405878.1_Missense_Mutation_p.M48I			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	48	Ser-rich (potentially targets for phosphorylation).				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.M48I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CCAAGGCTATGTTTGAATCTC	0.348								Non-homologous end-joining																															uc003bao.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(142-144)ATG>ATA	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							116.0	110.0	112.0					22																	42024183		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42024183G>A	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.144G>A	22.37:g.42024183G>A	ENSP00000352257:p.Met48Ile					XRCC6_uc003bap.1_Missense_Mutation_p.M48I|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Missense_Mutation_p.M48I|XRCC6_uc003bar.1_Missense_Mutation_p.M48I|XRCC6_uc003bas.1_Intron	p.M48I	NM_001469	NP_001460	P12956	XRCC6_HUMAN			3	214	+			48			Ser-rich (potentially targets for phosphorylation).		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.144G>A	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830597	0.91036	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000359308;ENST00000405878;ENST00000402409	.	.	.	5.43	5.43	0.79202	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	M	0.82056	2.57	0.80722	D	1	B;D;B	0.54397	0.342;0.966;0.17	B;B;B	0.44315	0.409;0.446;0.296	T	0.75393	-0.3333	9	0.52906	T	0.07	-29.454	19.2991	0.94136	0.0:0.0:1.0:0.0	.	48;48;48	B1AHC7;B1AHC8;P12956	.;.;XRCC6_HUMAN	I	48	.	ENSP00000352257:M48I	M	+	3	0	XRCC6	40354129	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.956000	0.93066	2.568000	0.86640	0.460000	0.39030	ATG		0.348	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		18	27	0	0	0	0.00278	0	18	27				
PNPLA5	150379	broad.mit.edu	37	22	44282278	44282278	+	Missense_Mutation	SNP	C	C	T	rs144693499		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:44282278C>T	ENST00000597664.1	-	6	983	c.854G>A	c.(853-855)cGc>cAc	p.R285H	PNPLA5_ENST00000216177.4_Missense_Mutation_p.R285H|PNPLA5_ENST00000381198.2_Missense_Mutation_p.R171H|PNPLA5_ENST00000593866.1_Missense_Mutation_p.R171H			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	285					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.R285H(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCCCTTCCAGCGTTGGTCACA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18699	0.0		0.001	False		,,,				2504	0.0						uc003beg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(853-855)CGC>CAC		patatin-like phospholipase domain containing 5							97.0	83.0	88.0					22																	44282278		2203	4300	6503	SO:0001583	missense	150379				lipid catabolic process		hydrolase activity	g.chr22:44282278C>T	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.854G>A	22.37:g.44282278C>T	ENSP00000471069:p.Arg285His					PNPLA5_uc011aqc.1_Missense_Mutation_p.R145H|PNPLA5_uc003beh.2_Missense_Mutation_p.R171H	p.R285H	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN			6	951	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	285					B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37	c.854G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.66	1.413199	0.25465	.	.	ENSG00000100341	ENST00000216177;ENST00000381198;ENST00000438734	T;T;T	0.45276	1.39;0.9;1.7	4.2	-3.81	0.04294	.	0.955828	0.08600	N	0.921696	T	0.17959	0.0431	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.18681	-1.0329	10	0.39692	T	0.17	-3.8128	5.6254	0.17480	0.0:0.2628:0.1603:0.5768	.	193;171;285	E9PGS4;Q7Z6Z6-2;Q7Z6Z6	.;.;PLPL5_HUMAN	H	285;171;193	ENSP00000216177:R285H;ENSP00000370595:R171H;ENSP00000405732:R193H	ENSP00000216177:R285H	R	-	2	0	PNPLA5	42613611	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.679000	0.01940	-0.498000	0.06632	-0.424000	0.05967	CGC		0.592	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		13	22	0	0	0	0.001855	0	13	22				
CELSR1	9620	broad.mit.edu	37	22	46787142	46787142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:46787142C>T	ENST00000262738.3	-	16	6190	c.6191G>A	c.(6190-6192)tGg>tAg	p.W2064*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2064					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.W2064*(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGTGGCCACCAGATGCCGGC	0.612											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003bhw.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(6190-6192)TGG>TAG		cadherin EGF LAG seven-pass G-type receptor 1							53.0	51.0	52.0					22																	46787142		2203	4300	6503	SO:0001587	stop_gained	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46787142C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6191G>A	22.37:g.46787142C>T	ENSP00000262738:p.Trp2064*		OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941	CELSR1_uc011arc.1_Nonsense_Mutation_p.W385*	p.W2064*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	16	6191	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2064			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Nonsense_Mutation	SNP	ENST00000262738.3	37	c.6191G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	45	11.957762	0.99621	.	.	ENSG00000075275	ENST00000262738	.	.	.	4.03	3.0	0.34707	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5553	0.50743	0.0:0.9095:0.0:0.0905	.	.	.	.	X	2064	.	ENSP00000262738:W2064X	W	-	2	0	CELSR1	45165806	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.189000	0.77747	0.810000	0.34279	0.462000	0.41574	TGG		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		9	23	0	0	0	0.008291	0	9	23				
CERK	64781	broad.mit.edu	37	22	47087660	47087660	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:47087660A>T	ENST00000216264.8	-	11	1253	c.1141T>A	c.(1141-1143)Tgg>Agg	p.W381R	CERK_ENST00000541677.1_Missense_Mutation_p.W183R|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	381					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.W381R(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGACTTGCCACTCCTCCACG	0.627																																							uc003bia.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1141-1143)TGG>AGG		ceramide kinase							65.0	52.0	56.0					22																	47087660		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47087660A>T	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1141T>A	22.37:g.47087660A>T	ENSP00000216264:p.Trp381Arg					CERK_uc010hae.2_Missense_Mutation_p.W183R	p.W381R	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	11	1248	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	381					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.1141T>A	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	a	18.83	3.706636	0.68615	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.14266	2.52;2.52	4.61	4.61	0.57282	.	0.058857	0.64402	D	0.000001	T	0.40119	0.1104	M	0.91300	3.195	0.80722	D	1	D	0.64830	0.994	P	0.58721	0.844	T	0.52888	-0.8515	10	0.87932	D	0	-29.5131	12.8552	0.57882	1.0:0.0:0.0:0.0	.	381	Q8TCT0	CERK1_HUMAN	R	381;183	ENSP00000216264:W381R;ENSP00000438659:W183R	ENSP00000216264:W381R	W	-	1	0	CERK	45466324	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.522000	0.90573	1.718000	0.51419	0.460000	0.39030	TGG		0.627	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		8	10	0	0	0	0.004482	0	8	10				
CNTN4	152330	broad.mit.edu	37	3	2967317	2967317	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:2967317A>T	ENST00000397461.1	+	12	1596	c.1212A>T	c.(1210-1212)gtA>gtT	p.V404V	CNTN4_ENST00000448906.2_Silent_p.V76V|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000418658.1_Silent_p.V404V|CNTN4_ENST00000358480.3_Silent_p.V185V|CNTN4_ENST00000397459.2_Silent_p.V76V|CNTN4_ENST00000427331.1_Silent_p.V404V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	404					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.V76V(1)|p.V404V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTTCAGCTGTAGGTCCAGATT	0.368																																							uc003bpc.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1210-1212)GTA>GTT		contactin 4 isoform a precursor							102.0	108.0	106.0					3																	2967317		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2967317A>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1212A>T	3.37:g.2967317A>T						CNTN4_uc003bpb.1_Silent_p.V76V|CNTN4_uc003bpd.1_Silent_p.V404V|CNTN4_uc003bpe.2_Silent_p.V76V|CNTN4_uc003bpf.2_Silent_p.V76V	p.V404V	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	12	1433	+		Ovarian(110;0.156)	404					B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1212A>T	CCDS43041.1																																																																																				0.368	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			26	51	0	0	0	0.005443	0	26	51				
LRRN1	57633	broad.mit.edu	37	3	3887744	3887744	+	Silent	SNP	A	A	T	rs150270030	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:3887744A>T	ENST00000319331.3	+	2	2180	c.1419A>T	c.(1417-1419)tcA>tcT	p.S473S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	473	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.S473S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAACCCTTTCAGATAAATACA	0.438																																							uc003bpt.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1417-1419)TCA>TCT		leucine rich repeat neuronal 1 precursor							77.0	86.0	83.0					3																	3887744		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887744A>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1419A>T	3.37:g.3887744A>T						SUMF1_uc003bps.1_Intron	p.S473S	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2180	+			473			Ig-like C2-type.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1419A>T	CCDS33685.1																																																																																				0.438	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		23	58	0	0	0	0.00278	0	23	58				
ITPR1	3708	broad.mit.edu	37	3	4711404	4711404	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:4711404G>T	ENST00000443694.2	+	16	1908	c.1908G>T	c.(1906-1908)ctG>ctT	p.L636L	ITPR1_ENST00000354582.6_Silent_p.L651L|ITPR1_ENST00000357086.4_Silent_p.L651L|ITPR1_ENST00000423119.2_Silent_p.L651L|ITPR1_ENST00000456211.2_Silent_p.L636L|ITPR1_ENST00000302640.8_Silent_p.L636L|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	651					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.L636L(2)|p.L651L(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCCAGGAACTGATATGTAAAG	0.443																																							uc003bqa.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(1951-1953)CTG>CTT		inositol 1,4,5-triphosphate receptor, type 1							88.0	85.0	86.0					3																	4711404		2203	4300	6503	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4711404G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1908G>T	3.37:g.4711404G>T						ITPR1_uc010hca.1_Silent_p.L636L|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Silent_p.L636L	p.L651L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	19	2301	+			651			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.1953G>T	CCDS54551.1																																																																																				0.443	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		4	11	1	0	0.00024832	0.009096	0.000292993	4	11				
OXTR	5021	broad.mit.edu	37	3	8809287	8809287	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:8809287C>A	ENST00000316793.3	-	3	1211	c.587G>T	c.(586-588)gGa>gTa	p.G196V	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	196					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)	p.G196V(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GGCCTTGGGTCCCCAGGGCTG	0.627																																							uc003brc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(586-588)GGA>GTA		oxytocin receptor	Carbetocin(DB01282)						51.0	53.0	52.0					3																	8809287		2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809287C>A		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.587G>T	3.37:g.8809287C>A	ENSP00000324270:p.Gly196Val						p.G196V	NM_000916	NP_000907	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1209	-			196			Extracellular (Potential).		Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.587G>T	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077965	0.94000	.	.	ENSG00000180914	ENST00000316793	T	0.35236	1.32	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70182	-0.4942	10	0.56958	D	0.05	-23.4446	17.4792	0.87668	0.0:1.0:0.0:0.0	.	196	P30559	OXYR_HUMAN	V	196	ENSP00000324270:G196V	ENSP00000324270:G196V	G	-	2	0	OXTR	8784287	1.000000	0.71417	0.981000	0.43875	0.976000	0.68499	7.688000	0.84153	2.466000	0.83321	0.561000	0.74099	GGA		0.627	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			7	31	1	0	1.12685e-05	0.004482	1.44938e-05	7	31				
CIDEC	63924	broad.mit.edu	37	3	9911858	9911858	+	Missense_Mutation	SNP	G	G	T	rs145091411		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:9911858G>T	ENST00000336832.2	-	4	495	c.356C>A	c.(355-357)cCa>cAa	p.P119Q	CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.P45Q|CIDEC_ENST00000430427.1_Missense_Mutation_p.P129Q|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000455015.1_Missense_Mutation_p.P45Q	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	119					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)		p.P119Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CTGTTCTGATGGGGGCTGCCA	0.532																																							uc003btq.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(355-357)CCA>CAA		cell death-inducing DFFA-like effector c							64.0	67.0	66.0					3																	9911858		2203	4300	6503	SO:0001583	missense	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911858G>T		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.356C>A	3.37:g.9911858G>T	ENSP00000338642:p.Pro119Gln					CIDEC_uc003bto.2_Intron|CIDEC_uc010hcp.2_Intron|CIDEC_uc003btp.2_Missense_Mutation_p.P129Q|CIDEC_uc003btr.2_Missense_Mutation_p.P45Q|CIDEC_uc003bts.2_Missense_Mutation_p.P45Q	p.P119Q	NM_022094	NP_071377	Q96AQ7	CIDEC_HUMAN			4	496	-	Medulloblastoma(99;0.227)		119					C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	c.356C>A	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	G	9.980	1.227992	0.22542	.	.	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.04	3.27	0.37495	.	0.497690	0.18359	N	0.143639	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	P;B	0.47302	0.893;0.373	B;B	0.43331	0.416;0.058	T	0.07927	-1.0747	10	0.15499	T	0.54	-1.506	7.3087	0.26463	0.1453:0.0:0.7178:0.1369	.	119;129	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	Q	119;45;45;129	ENSP00000338642:P119Q;ENSP00000392975:P45Q;ENSP00000400649:P45Q;ENSP00000408631:P129Q	ENSP00000338642:P119Q	P	-	2	0	CIDEC	9886858	0.030000	0.19436	0.006000	0.13384	0.970000	0.65996	2.150000	0.42254	0.439000	0.26476	0.586000	0.80456	CCA		0.532	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		18	38	1	0	3.41278e-10	0.00499	5.41287e-10	18	38				
FGD5	152273	broad.mit.edu	37	3	14905750	14905750	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:14905750C>A	ENST00000285046.5	+	2	2751	c.2641C>A	c.(2641-2643)Ccc>Acc	p.P881T	FGD5_ENST00000543601.1_Missense_Mutation_p.P640T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	881					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.P881T(1)|p.P640T(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TTCAAGAGACCCCAGTGTCAC	0.587																																							uc003bzc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(2641-2643)CCC>ACC		FYVE, RhoGEF and PH domain containing 5							90.0	95.0	93.0					3																	14905750		2065	4194	6259	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14905750C>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2641C>A	3.37:g.14905750C>A	ENSP00000285046:p.Pro881Thr					FGD5_uc011avk.1_Missense_Mutation_p.P881T	p.P881T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			2	2751	+			881					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2641C>A	CCDS46767.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.19|13.19	2.162485|2.162485	0.38217|0.38217	.|.	.|.	ENSG00000154783|ENSG00000154783	ENST00000457774|ENST00000285046;ENST00000543601	.|T;T	.|0.76968	.|-1.06;-0.93	4.37|4.37	2.53|2.53	0.30540|0.30540	.|Dbl homology (DH) domain (1);	0.000000|0.000000	0.52532|0.52532	D|D	0.000067|0.000067	T|T	0.71056|0.71056	0.3295|0.3295	M|M	0.70595|0.70595	2.14|2.14	0.40501|0.40501	D|D	0.980644|0.980644	.|P;P	.|0.50617	.|0.872;0.937	.|B;B	.|0.40410	.|0.196;0.328	T|T	0.68918|0.68918	-0.5282|-0.5282	6|10	.|0.56958	.|D	.|0.05	-13.2608|-13.2608	5.5373|5.5373	0.17018|0.17018	0.0:0.6519:0.1652:0.1829|0.0:0.6519:0.1652:0.1829	.|.	.|640;881	.|B7ZM68;Q6ZNL6	.|.;FGD5_HUMAN	H|T	94|881;640	.|ENSP00000285046:P881T;ENSP00000445949:P640T	.|ENSP00000285046:P881T	P|P	+|+	2|1	0|0	FGD5|FGD5	14880754|14880754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.550000|0.550000	0.35303|0.35303	0.983000|0.983000	0.29552|0.29552	0.390000|0.390000	0.25115|0.25115	0.467000|0.467000	0.42956|0.42956	CCC|CCC		0.587	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		9	30	1	0	0.000274275	0.004482	0.000319476	9	30				
COLQ	8292	broad.mit.edu	37	3	15499752	15499752	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:15499752C>A	ENST00000383788.5	-	13	1020	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	COLQ_ENST00000435459.2_Missense_Mutation_p.V289L|COLQ_ENST00000383786.5_Missense_Mutation_p.V265L|COLQ_ENST00000383787.2_Missense_Mutation_p.V290L|COLQ_ENST00000383781.4_Missense_Mutation_p.V289L|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Missense_Mutation_p.V299L	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	299					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.V299L(1)|p.V289L(1)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GGGTTATTCACATTCATAGTG	0.522																																							uc003bzx.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(895-897)GTG>TTG		acetylcholinesterase collagen-like tail subunit							129.0	127.0	128.0					3																	15499752		2203	4300	6503	SO:0001583	missense	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15499752C>A	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.895G>T	3.37:g.15499752C>A	ENSP00000373298:p.Val299Leu					COLQ_uc003bzv.2_Missense_Mutation_p.V289L|COLQ_uc003bzz.2_Missense_Mutation_p.V290L|COLQ_uc010heo.2_Missense_Mutation_p.V265L|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.V158L|COLQ_uc003cad.1_RNA	p.V299L	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			13	1021	-			299					B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	37	c.895G>T	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	C	9.513	1.106267	0.20632	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786	D;D;D;D;D	0.90676	-2.56;-2.71;-2.65;-2.66;-2.69	5.94	4.14	0.48551	.	0.352185	0.30151	N	0.010285	D	0.86948	0.6056	M	0.62723	1.935	0.80722	D	1	B;B;B;B	0.26318	0.015;0.001;0.009;0.146	B;B;B;B	0.23574	0.014;0.004;0.011;0.047	T	0.82374	-0.0489	10	0.25106	T	0.35	-5.855	9.6322	0.39787	0.1161:0.7621:0.0:0.1218	.	265;290;299;289	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	L	290;289;289;299;289;299;265	ENSP00000373297:V290L;ENSP00000373291:V289L;ENSP00000402511:V289L;ENSP00000373298:V299L;ENSP00000373296:V265L	ENSP00000373291:V289L	V	-	1	0	COLQ	15474756	0.219000	0.23619	0.960000	0.40013	0.377000	0.30045	0.322000	0.19576	1.518000	0.48934	0.561000	0.74099	GTG		0.522	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		20	56	1	0	5.35356e-11	0.00278	8.68983e-11	20	56				
SATB1	6304	broad.mit.edu	37	3	18427954	18427954	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:18427954C>A	ENST00000338745.6	-	8	3090	c.1356G>T	c.(1354-1356)ttG>ttT	p.L452F	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.L452F|SATB1_ENST00000417717.2_Missense_Mutation_p.L452F	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	452					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L452F(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGGCAGCATTCAAGCTCCTTT	0.547																																							uc003cbh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(1354-1356)TTG>TTT		special AT-rich sequence binding protein 1							185.0	189.0	187.0					3																	18427954		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18427954C>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1356G>T	3.37:g.18427954C>A	ENSP00000341024:p.Leu452Phe					SATB1_uc003cbi.2_Missense_Mutation_p.L452F|SATB1_uc003cbj.2_Missense_Mutation_p.L452F	p.L452F	NM_002971	NP_002962	Q01826	SATB1_HUMAN			8	3091	-			452					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.1356G>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778604	0.90195	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.51817	0.69;0.69;0.69	6.17	6.17	0.99709	Lambda repressor-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.972	D;P	0.74674	0.984;0.866	T	0.55541	-0.8125	10	0.56958	D	0.05	-12.3223	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	452;452	Q01826-2;Q01826	.;SATB1_HUMAN	F	452	ENSP00000341024:L452F;ENSP00000399708:L452F;ENSP00000399518:L452F	ENSP00000341024:L452F	L	-	3	2	SATB1	18402958	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.186000	0.50942	2.941000	0.99782	0.655000	0.94253	TTG		0.547	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		19	61	1	0	2.4624e-09	0.008871	3.79391e-09	19	61				
RAB5A	5868	broad.mit.edu	37	3	20017161	20017161	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:20017161G>C	ENST00000273047.4	+	3	768	c.232G>C	c.(232-234)Ggt>Cgt	p.G78R	RAB5A_ENST00000422242.1_Missense_Mutation_p.G64R	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	78					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G78R(1)		lung(1)|urinary_tract(1)	2						GGATACAGCTGGTCAAGAACG	0.383																																							uc003cbn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(232-234)GGT>CGT		RAB5A, member RAS oncogene family							119.0	105.0	110.0					3																	20017161		2203	4300	6503	SO:0001583	missense	5868				blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr3:20017161G>C		CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.232G>C	3.37:g.20017161G>C	ENSP00000273047:p.Gly78Arg					RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.G64R	p.G78R	NM_004162	NP_004153	P20339	RAB5A_HUMAN			3	767	+			78			GTP.		B4DJA5|Q6FI44	Missense_Mutation	SNP	ENST00000273047.4	37	c.232G>C	CCDS2633.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947210	0.92593	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	D;D	0.93712	-3.27;-3.27	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98105	0.9375	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99513	1.0956	9	.	.	.	-5.2798	18.85	0.92224	0.0:0.0:1.0:0.0	.	64;78	B4DJA5;P20339	.;RAB5A_HUMAN	R	78;64	ENSP00000273047:G78R;ENSP00000411941:G64R	.	G	+	1	0	RAB5A	19992165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.766000	0.98957	2.541000	0.85698	0.563000	0.77884	GGT		0.383	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252137.2	NM_004162		17	33	0	0	0	0.004007	0	17	33				
CCR4	1233	broad.mit.edu	37	3	32995815	32995815	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:32995815C>A	ENST00000330953.5	+	2	1069	c.901C>A	c.(901-903)Ccc>Acc	p.P301T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	301					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.P301T(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTGCCTTAATCCCATCATCTA	0.478																																							uc003cfg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(901-903)CCC>ACC		chemokine (C-C motif) receptor 4							71.0	76.0	74.0					3																	32995815		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995815C>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.901C>A	3.37:g.32995815C>A	ENSP00000332659:p.Pro301Thr						p.P301T	NM_005508	NP_005499	P51679	CCR4_HUMAN			2	1069	+			301			Helical; Name=7; (Potential).		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.901C>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062613	0.76187	.	.	ENSG00000183813	ENST00000330953	D	0.98807	-5.15	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	D	0.99566	0.9844	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97855	1.0277	10	0.87932	D	0	.	19.497	0.95077	0.0:1.0:0.0:0.0	.	301	P51679	CCR4_HUMAN	T	301	ENSP00000332659:P301T	ENSP00000332659:P301T	P	+	1	0	CCR4	32970819	1.000000	0.71417	0.147000	0.22382	0.820000	0.46376	7.818000	0.86416	2.706000	0.92434	0.563000	0.77884	CCC		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			15	38	1	0	3.27435e-08	0.00245	4.82536e-08	15	38				
CLASP2	23122	broad.mit.edu	37	3	33557609	33557609	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:33557609C>T	ENST00000468888.2	-	36	4086	c.4040G>A	c.(4039-4041)aGa>aAa	p.R1347K	CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.R1106K|CLASP2_ENST00000480013.1_Missense_Mutation_p.R1126K|CLASP2_ENST00000399362.4_Missense_Mutation_p.R1346K|CLASP2_ENST00000307312.7_Missense_Mutation_p.R828K|CLASP2_ENST00000359576.5_Missense_Mutation_p.R1338K			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1127					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.R1339K(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGGATTTCTCTTAAAACCTT	0.313																																							uc003cfu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4015-4017)AGA>AAA		CLIP-associating protein 2							103.0	92.0	95.0					3																	33557609		1804	4081	5885	SO:0001583	missense	23122							g.chr3:33557609C>T	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4040G>A	3.37:g.33557609C>T	ENSP00000419974:p.Arg1347Lys					CLASP2_uc003cfs.2_Missense_Mutation_p.R546K|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA	p.R1339K	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			35	4370	-			1348					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.4016G>A		.	.	.	.	.	.	.	.	.	.	C	7.929	0.740181	0.15642	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.56	3.62	0.41486	.	0.158367	0.56097	N	0.000026	T	0.37999	0.1024	N	0.11651	0.15	0.37080	D	0.89895	B;B	0.14012	0.009;0.009	B;B	0.25405	0.013;0.06	T	0.20306	-1.0279	10	0.07813	T	0.8	-5.8964	9.4485	0.38712	0.0:0.8084:0.0:0.1916	.	1338;1346	F5H604;E7ERI8	.;.	K	1347;1346;1338;828;1126;1106	ENSP00000419974:R1347K;ENSP00000382297:R1346K;ENSP00000352581:R1338K;ENSP00000304743:R828K;ENSP00000417518:R1126K;ENSP00000419305:R1106K	ENSP00000304743:R828K	R	-	2	0	CLASP2	33532613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.755000	0.38379	0.557000	0.29117	0.563000	0.77884	AGA		0.313	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		3	10	0	0	0	0.004672	0	3	10				
CLASP2	23122	broad.mit.edu	37	3	33558651	33558651	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:33558651T>A	ENST00000468888.2	-	35	3873	c.3827A>T	c.(3826-3828)cAt>cTt	p.H1276L	CLASP2_ENST00000539981.1_Missense_Mutation_p.H1045L|CLASP2_ENST00000461133.3_Missense_Mutation_p.H1035L|CLASP2_ENST00000480013.1_Missense_Mutation_p.H1055L|CLASP2_ENST00000399362.4_Missense_Mutation_p.H1275L|CLASP2_ENST00000307312.7_Missense_Mutation_p.H757L|CLASP2_ENST00000359576.5_Missense_Mutation_p.H1267L			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1056	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.H1268L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGGTCAGAATGATCTAGGGA	0.373																																							uc003cfu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3802-3804)CAT>CTT		CLIP-associating protein 2							103.0	93.0	96.0					3																	33558651		1845	4095	5940	SO:0001583	missense	23122							g.chr3:33558651T>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3827A>T	3.37:g.33558651T>A	ENSP00000419974:p.His1276Leu					CLASP2_uc003cfs.2_Missense_Mutation_p.H475L|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.H868L	p.H1268L	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			34	4157	-			1277					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.3803A>T		.	.	.	.	.	.	.	.	.	.	T	19.23	3.787277	0.70337	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	0.050073	0.85682	D	0.000000	T	0.65260	0.2674	L	0.47716	1.5	0.58432	D	0.999991	P;P;P	0.44344	0.833;0.557;0.578	B;B;P	0.45712	0.42;0.167;0.491	T	0.63642	-0.6591	10	0.30078	T	0.28	-17.183	15.2891	0.73852	0.0:0.0:0.0:1.0	.	1056;1267;1275	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	L	1276;1275;1267;757;1045;1055;1035	ENSP00000419974:H1276L;ENSP00000382297:H1275L;ENSP00000352581:H1267L;ENSP00000304743:H757L;ENSP00000417518:H1055L;ENSP00000419305:H1035L	ENSP00000304743:H757L	H	-	2	0	CLASP2	33533655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.322000	0.79097	2.009000	0.58944	0.533000	0.62120	CAT		0.373	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		12	14	0	0	0	0.001368	0	12	14				
OXSR1	9943	broad.mit.edu	37	3	38287626	38287626	+	Missense_Mutation	SNP	C	C	T	rs201009720		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:38287626C>T	ENST00000446845.1	+	13	1543	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	OXSR1_ENST00000311806.3_Missense_Mutation_p.H391Y					oxidative stress responsive 1									p.H391Y(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GATCTCTGCTCATCTACCTCA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17509	0.0		0.001	False		,,,				2504	0.0						uc003chy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1171-1173)CAT>TAT		oxidative-stress responsive 1		C	TYR/HIS	0,4406		0,0,2203	168.0	151.0	157.0		1171	5.7	1.0	3		157	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OXSR1	NM_005109.2	83	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	391/528	38287626	3,13003	2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38287626C>T	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.1171C>T	3.37:g.38287626C>T	ENSP00000415851:p.His391Tyr					OXSR1_uc010hhb.2_Missense_Mutation_p.H325Y	p.H391Y	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	13	1513	+			391						Missense_Mutation	SNP	ENST00000446845.1	37	c.1171C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.08	2.727185	0.48833	0.0	3.49E-4	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.72051	-0.62;-0.59	5.72	5.72	0.89469	.	0.729937	0.14697	N	0.303807	T	0.62588	0.2440	L	0.40543	1.245	0.32531	N	0.534908	B	0.24533	0.105	B	0.19666	0.026	T	0.67070	-0.5763	10	0.62326	D	0.03	-16.8006	11.3723	0.49707	0.1396:0.7255:0.1349:0.0	.	391	O95747	OXSR1_HUMAN	Y	391	ENSP00000415851:H391Y;ENSP00000311713:H391Y	ENSP00000311713:H391Y	H	+	1	0	OXSR1	38262630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.134000	0.31442	2.872000	0.98467	0.650000	0.86243	CAT		0.502	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		12	46	0	0	0	0.001855	0	12	46				
POMGNT2	84892	broad.mit.edu	37	3	43121603	43121603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:43121603C>A	ENST00000344697.2	-	2	1666	c.1321G>T	c.(1321-1323)Gag>Tag	p.E441*	POMGNT2_ENST00000441964.1_Nonsense_Mutation_p.E441*	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	441					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.E441*(1)									AAGAGCCACTCGGGGTTCCGG	0.632																																							uc003cmq.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1321-1323)GAG>TAG		glycosyltransferase precursor							35.0	36.0	36.0					3																	43121603		2203	4300	6503	SO:0001587	stop_gained	84892					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:43121603C>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1321G>T	3.37:g.43121603C>A	ENSP00000344125:p.Glu441*					C3orf39_uc003cmr.1_Nonsense_Mutation_p.E441*	p.E441*	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	2	1462	-			441					B3KWC3|Q96SY3	Nonsense_Mutation	SNP	ENST00000344697.2	37	c.1321G>T	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	C	39	7.515531	0.98332	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-32.5787	18.5085	0.90907	0.0:1.0:0.0:0.0	.	.	.	.	X	441	.	ENSP00000344125:E441X	E	-	1	0	C3orf39	43096607	1.000000	0.71417	0.950000	0.38849	0.926000	0.56050	7.818000	0.86416	2.614000	0.88457	0.650000	0.86243	GAG		0.632	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		5	15	1	0	1.6384e-10	0.001984	2.62144e-10	5	15				
ATRIP	84126	broad.mit.edu	37	3	48501642	48501642	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:48501642G>A	ENST00000320211.3	+	8	1302	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	ATRIP_ENST00000412052.1_Missense_Mutation_p.D304N|ATRIP_ENST00000357105.6_Missense_Mutation_p.D270N|ATRIP_ENST00000346691.4_Missense_Mutation_p.D397N	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	397					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D397N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCTCACGTGATGGAGACCC	0.547								Other conserved DNA damage response genes																															uc003ctf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1189-1191)GAT>AAT	Other_conserved_DNA_damage_response_genes	ATR interacting protein isoform 1							104.0	97.0	100.0					3																	48501642		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48501642G>A	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1189G>A	3.37:g.48501642G>A	ENSP00000323099:p.Asp397Asn					ATRIP_uc011bbj.1_Missense_Mutation_p.D270N|ATRIP_uc003ctg.1_Missense_Mutation_p.D397N|TREX1_uc010hjy.2_5'UTR	p.D397N	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1221	+			397					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1189G>A	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184311	0.57800	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.48201	1.4;1.39;0.82;1.4	5.85	5.85	0.93711	.	0.367801	0.32533	N	0.005973	T	0.65565	0.2703	M	0.62723	1.935	0.25635	N	0.986261	D;D	0.76494	0.999;0.999	D;D	0.65443	0.935;0.935	T	0.59547	-0.7434	9	.	.	.	-12.1485	17.6515	0.88165	0.0:0.0:1.0:0.0	.	397;397	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	N	397;397;270;304	ENSP00000323099:D397N;ENSP00000302338:D397N;ENSP00000349620:D270N;ENSP00000400930:D304N	.	D	+	1	0	ATRIP	48476646	1.000000	0.71417	0.072000	0.20136	0.236000	0.25371	5.102000	0.64572	2.767000	0.95098	0.655000	0.94253	GAT		0.547	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		26	55	0	0	0	0.004656	0	26	55				
UBA7	7318	broad.mit.edu	37	3	49845456	49845456	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:49845456G>A	ENST00000333486.3	-	20	2678	c.2520C>T	c.(2518-2520)gcC>gcT	p.A840A	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	840					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.A840A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGTTACCTGGGCACGGTTGA	0.587																																							uc003cxr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2518-2520)GCC>GCT		ubiquitin-like modifier activating enzyme 7							76.0	72.0	74.0					3																	49845456		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49845456G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2520C>T	3.37:g.49845456G>A							p.A840A	NM_003335	NP_003326	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	20	2691	-			840					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.2520C>T	CCDS2805.1																																																																																				0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		5	9	0	0	0	0.001168	0	5	9				
SEMA3B	7869	broad.mit.edu	37	3	50308357	50308357	+	RNA	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:50308357T>C	ENST00000418948.1	+	0	601							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.Y122H(1)		central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGCATGCCTACAACCGCAC	0.592																																							uc003cyu.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6						c.(367-369)TAC>CAC		semaphorin 3B isoform 1 precursor							60.0	68.0	66.0					3																	50308357		2120	4244	6364			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50308357T>C	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50308357T>C						SEMA3B_uc010hlh.1_RNA|SEMA3B_uc003cyt.2_Missense_Mutation_p.Y123H|SEMA3B_uc003cyv.2_Missense_Mutation_p.Y10H|SEMA3B_uc003cyw.2_5'UTR|SEMA3B_uc010hli.2_Missense_Mutation_p.Y10H|SEMA3B_uc003cyx.2_Missense_Mutation_p.Y10H|SEMA3B_uc003cyy.2_5'Flank|SEMA3B_uc011bdo.1_5'Flank	p.Y123H	NM_004636	NP_004627	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	6	609	+			123			Sema.		Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Missense_Mutation	SNP	ENST00000418948.1	37	c.367T>C		.	.	.	.	.	.	.	.	.	.	t	14.18	2.459152	0.43634	.	.	ENSG00000012171	ENST00000316347;ENST00000414456	.	.	.	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.061284	0.64402	D	0.000002	T	0.58850	0.2151	.	.	.	.	.	.	B;B;B	0.29212	0.046;0.046;0.237	B;B;B	0.40506	0.059;0.059;0.331	T	0.68899	-0.5287	7	0.46703	T	0.11	.	12.8243	0.57710	0.0:0.0:0.0:1.0	.	123;122;123	Q13214-2;F5H2H7;Q13214	.;.;SEM3B_HUMAN	H	122	.	ENSP00000446262:Y122H	Y	+	1	0	SEMA3B	50283361	1.000000	0.71417	0.959000	0.39883	0.257000	0.26127	4.997000	0.63921	1.973000	0.57446	0.478000	0.44815	TAC		0.592	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		2	6	0	0	0	0.004672	0	2	6				
IFRD2	7866	broad.mit.edu	37	3	50327638	50327638	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:50327638G>A	ENST00000429673.2	-	4	542	c.543C>T	c.(541-543)ctC>ctT	p.L181L	IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000436390.1_Silent_p.L117L|IFRD2_ENST00000336089.4_Silent_p.L283L|IFRD2_ENST00000417626.2_Silent_p.L117L			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	181						nucleus (GO:0005634)		p.L283L(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGGCTAGCGTGAGGCGGCGCT	0.642																																							uc011bdp.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3						c.(541-543)CTC>CTT		interferon-related developmental regulator 2							30.0	34.0	33.0					3																	50327638		2041	4186	6227	SO:0001819	synonymous_variant	7866						binding	g.chr3:50327638G>A	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.543C>T	3.37:g.50327638G>A						IFRD2_uc003czb.2_Silent_p.L283L	p.L181L	NM_006764	NP_006755	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	4	672	-			181					Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	c.543C>T	CCDS46831.1																																																																																				0.642	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		6	9	0	0	0	0.001168	0	6	9				
GRM2	2912	broad.mit.edu	37	3	51743227	51743227	+	Silent	SNP	G	G	A	rs140328919		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:51743227G>A	ENST00000395052.3	+	2	462	c.228G>A	c.(226-228)ccG>ccA	p.P76P	GRM2_ENST00000442933.2_Silent_p.P76P|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	76					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.P76P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCGTGACCCGCACCTGCTGC	0.632																																							uc010hlv.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(226-228)CCG>CCA		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						132.0	119.0	123.0					3																	51743227		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743227G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.228G>A	3.37:g.51743227G>A						GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.P76P	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	467	+			76			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.228G>A	CCDS2834.1																																																																																				0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			27	71	0	0	0	0.007291	0	27	71				
CACNA2D3	55799	broad.mit.edu	37	3	54871258	54871258	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:54871258G>T	ENST00000474759.1	+	15	1518		c.e15+1		CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GAACGAAACCGTGAGTACAGT	0.507																																							uc003dhf.2		NA																	1	Unknown(1)		lung(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.e15+1		calcium channel, voltage-dependent, alpha							186.0	182.0	183.0					3																	54871258		2012	4188	6200	SO:0001630	splice_region_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54871258G>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1470+1G>T	3.37:g.54871258G>T						CACNA2D3_uc011beu.1_Splice_Site|CACNA2D3_uc003dhg.1_Splice_Site_p.T396_splice|CACNA2D3_uc003dhh.1_Splice_Site|CACNA2D3_uc010hmv.1_Splice_Site_p.T224_splice	p.T490_splice	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	15	1518	+								B2RPL6|Q9NY16|Q9NY18	Splice_Site	SNP	ENST00000474759.1	37	c.1470_splice	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895902	0.91962	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA2D3	54846298	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.742000	0.91588	2.882000	0.98803	0.655000	0.94253	.		0.507	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		Intron	19	79	1	0	3.62473e-10	0.001882	5.73653e-10	19	79				
DNAH12	201625	broad.mit.edu	37	3	57487119	57487120	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:57487119_57487120GG>AA	ENST00000351747.2	-	11	1443_1444	c.1263_1264CC>TT	c.(1261-1266)ctCCtt>ctTTtt	p.L422F	DNAH12_ENST00000311202.6_Missense_Mutation_p.L422F|DNAH12_ENST00000389536.4_Missense_Mutation_p.L422F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	422	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L422F(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTCCCATCAAGGAGCCAATTAT	0.282																																							uc003dit.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1261-1266)CTCCTT>CTTTTT		dynein heavy chain domain 2 isoform 1																																				SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57487119_57487120GG>AA	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1263_1264delinsAA	3.37:g.57487119_57487120delinsAA	ENSP00000295937:p.Leu422Phe					DNAH12_uc003diu.2_Missense_Mutation_p.L422F	p.L422F	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			11	1444_1445	-			422			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	DNP	ENST00000351747.2	37	c.1263_1264CC>TT																																																																																					0.282	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		6	39	0	0	0	0.004672	0	6	39				
DNASE1L3	1776	broad.mit.edu	37	3	58178443	58178443	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:58178443T>A	ENST00000394549.2	-	8	1205	c.889A>T	c.(889-891)Agg>Tgg	p.R297W	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.R267W|DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.R297W	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	297					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)	p.R297W(1)		breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GTTTTCTTCCTTAGAGTGACA	0.408																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	Esophageal Squamous(96;1069 1424 4841 43466 52325)	uc003djo.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)	3						c.(889-891)AGG>TGG		deoxyribonuclease I-like 3 precursor							149.0	150.0	150.0					3																	58178443		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58178443T>A	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.889A>T	3.37:g.58178443T>A	ENSP00000378053:p.Arg297Trp					DNASE1L3_uc011bfd.1_Missense_Mutation_p.R267W|DNASE1L3_uc003djp.1_Missense_Mutation_p.R297W|DNASE1L3_uc003djq.1_3'UTR	p.R297W	NM_004944	NP_004935	Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	8	986	-			297			Nuclear localization signal (Potential).		B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.889A>T	CCDS2886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.92|11.92	1.782204|1.782204	0.31502|0.31502	.|.	.|.	ENSG00000163687|ENSG00000163687	ENST00000486455;ENST00000318316;ENST00000394549|ENST00000477209	T;T;T|.	0.38887|.	1.11;1.33;1.33|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.414681|.	0.24532|.	N|.	0.037704|.	T|.	0.20740|.	0.0499|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D;D|.	0.63880|.	0.983;0.993|.	P;P|.	0.53006|.	0.715;0.715|.	T|.	0.16630|.	-1.0396|.	10|.	0.87932|.	D|.	0|.	-9.1643|-9.1643	10.0939|10.0939	0.42464|0.42464	0.0:0.0:0.1683:0.8317|0.0:0.0:0.1683:0.8317	.|.	267;297|.	B7Z707;Q13609|.	.;DNSL3_HUMAN|.	W|Y	267;297;297|138	ENSP00000419052:R267W;ENSP00000316193:R297W;ENSP00000378053:R297W|.	ENSP00000316193:R297W|.	R|X	-|-	1|3	2|2	DNASE1L3|DNASE1L3	58153483|58153483	0.056000|0.056000	0.20664|0.20664	0.143000|0.143000	0.22291|0.22291	0.112000|0.112000	0.19704|0.19704	2.001000|2.001000	0.40825|0.40825	2.058000|2.058000	0.61347|0.61347	0.528000|0.528000	0.53228|0.53228	AGG|TAA		0.408	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		18	63	0	0	0	0.006122	0	18	63				
EPHA3	2042	broad.mit.edu	37	3	89521734	89521734	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:89521734C>G	ENST00000336596.2	+	16	3036	c.2811C>G	c.(2809-2811)taC>taG	p.Y937*	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	937	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.Y937*(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGTGGAGTACAGTTCTTGTG	0.408										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2809-2811)TAC>TAG		ephrin receptor EphA3 isoform a precursor							105.0	96.0	99.0					3																	89521734		2203	4300	6503	SO:0001587	stop_gained	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89521734C>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2811C>G	3.37:g.89521734C>G	ENSP00000337451:p.Tyr937*	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.Y937*	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	16	3036	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	937			Cytoplasmic (Potential).|SAM.		Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	ENST00000336596.2	37	c.2811C>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	c	40	8.516168	0.98845	.	.	ENSG00000044524	ENST00000336596	.	.	.	5.61	2.86	0.33363	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3964	0.49845	0.0:0.8006:0.0:0.1994	.	.	.	.	X	937	.	.	Y	+	3	2	EPHA3	89604424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.859000	0.48364	0.742000	0.32697	-0.119000	0.15052	TAC		0.408	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		16	50	0	0	0	0.003163	0	16	50				
ABHD10	55347	broad.mit.edu	37	3	111697944	111697944	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:111697944G>C	ENST00000273359.3	+	1	63	c.36G>C	c.(34-36)tgG>tgC	p.W12C	ABHD10_ENST00000494817.1_Missense_Mutation_p.W12C|ABHD10_ENST00000534857.1_5'UTR	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	12					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.W12C(1)		large_intestine(2)|lung(7)|skin(1)	10						TGGCGGCCTGGGTACCTTGTC	0.687																																							uc003dyk.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(34-36)TGG>TGC		abhydrolase domain containing 10 precursor							41.0	42.0	41.0					3																	111697944		2202	4300	6502	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111697944G>C	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.36G>C	3.37:g.111697944G>C	ENSP00000273359:p.Trp12Cys					ABHD10_uc011bhq.1_5'UTR	p.W12C	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			1	117	+			12					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.36G>C	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982174	0.34942	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T	0.39997	1.05	5.19	4.32	0.51571	.	1.116930	0.06825	N	0.792945	T	0.45955	0.1368	L	0.56769	1.78	0.58432	D	0.999998	P	0.51653	0.947	B	0.43360	0.417	T	0.40346	-0.9568	10	0.56958	D	0.05	-2.0151	11.4675	0.50248	0.0:0.0:0.8205:0.1795	.	12	Q9NUJ1	ABHDA_HUMAN	C	12	ENSP00000273359:W12C	ENSP00000273359:W12C	W	+	3	0	ABHD10	113180634	0.059000	0.20769	0.155000	0.22561	0.010000	0.07245	1.806000	0.38892	1.574000	0.49760	-0.127000	0.14921	TGG		0.687	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		9	23	0	0	0	0.006214	0	9	23				
CASR	846	broad.mit.edu	37	3	122003851	122003851	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:122003851A>T	ENST00000490131.1	+	7	3422	c.3050A>T	c.(3049-3051)cAg>cTg	p.Q1017L	CASR_ENST00000296154.5_Missense_Mutation_p.Q1017L|CASR_ENST00000498619.1_Missense_Mutation_p.Q1027L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1017					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.Q1017L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCCCGCTGCAGTGCGGGGAA	0.592																																							uc003eev.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(3049-3051)CAG>CTG		calcium-sensing receptor precursor	Cinacalcet(DB01012)						50.0	54.0	53.0					3																	122003851		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003851A>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3050A>T	3.37:g.122003851A>T	ENSP00000418685:p.Gln1017Leu					CASR_uc003eew.3_Missense_Mutation_p.Q1027L	p.Q1017L	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3422	+			1017			Cytoplasmic (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.3050A>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	A	8.989	0.977158	0.18812	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89875	-2.58;-2.57;-2.58	5.49	3.06	0.35304	.	0.080579	0.52532	D	0.000066	T	0.79759	0.4501	L	0.27053	0.805	0.43195	D	0.995039	B;B	0.26002	0.139;0.004	B;B	0.19946	0.027;0.01	T	0.75847	-0.3173	10	0.87932	D	0	.	7.4434	0.27196	0.7802:0.1449:0.0749:0.0	.	1027;1017	E7ENE0;P41180	.;CASR_HUMAN	L	1017;1027;1017	ENSP00000418685:Q1017L;ENSP00000420194:Q1027L;ENSP00000296154:Q1017L	ENSP00000296154:Q1017L	Q	+	2	0	CASR	123486541	1.000000	0.71417	0.976000	0.42696	0.288000	0.27193	5.030000	0.64128	0.990000	0.38787	0.459000	0.35465	CAG		0.592	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		9	32	0	0	0	0.004482	0	9	32				
DNAJB8	165721	broad.mit.edu	37	3	128181690	128181690	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:128181690G>A	ENST00000469083.1	-	2	2956	c.399C>T	c.(397-399)gcC>gcT	p.A133A	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Silent_p.A133A			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	133					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)	p.A133A(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CTGCCGAGAAGGCCCCCCTCA	0.597																																							uc003ekk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)GCC>GCT		DnaJ homolog, subfamily B, member 8							38.0	43.0	41.0					3																	128181690		2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181690G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.399C>T	3.37:g.128181690G>A						uc003ekl.1_5'Flank	p.A133A	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	3	2060	-			133					B3KWV7	Silent	SNP	ENST00000469083.1	37	c.399C>T	CCDS3048.1																																																																																				0.597	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		4	29	0	0	0	0.000602	0	4	29				
MBD4	8930	broad.mit.edu	37	3	129151986	129151986	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:129151986G>C	ENST00000249910.1	-	6	1691	c.1516C>G	c.(1516-1518)Ctt>Gtt	p.L506V	MBD4_ENST00000507208.1_Missense_Mutation_p.L506V|MBD4_ENST00000503197.1_Missense_Mutation_p.L506V|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000429544.2_Missense_Mutation_p.L500V|MBD4_ENST00000393278.2_Missense_Mutation_p.L188V	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	506					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.L506V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TAGAGACCAAGAGGTTTAAGA	0.408								Base excision repair (BER), DNA glycosylases																															uc003emh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1516-1518)CTT>GTT	BER_DNA_glycosylases	methyl-CpG binding domain protein 4							149.0	147.0	148.0					3																	129151986		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129151986G>C	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1516C>G	3.37:g.129151986G>C	ENSP00000249910:p.Leu506Val					MBD4_uc003emi.1_Missense_Mutation_p.L506V|MBD4_uc003emj.1_Missense_Mutation_p.L500V|MBD4_uc003emk.1_Missense_Mutation_p.L188V|MBD4_uc011bkw.1_Missense_Mutation_p.L506V	p.L506V	NM_003925	NP_003916	O95243	MBD4_HUMAN			6	1692	-			506					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.1516C>G	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615590	0.87359	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.92	5.03	0.67393	HhH-GPD domain (1);DNA glycosylase (2);	0.065025	0.64402	D	0.000006	D	0.93051	0.7788	M	0.92459	3.31	0.58432	D	0.999999	D;D;D;D;D	0.61080	0.968;0.982;0.978;0.989;0.982	P;P;P;P;P	0.58391	0.713;0.743;0.7;0.838;0.801	D	0.94670	0.7856	10	0.87932	D	0	-12.0715	16.1634	0.81734	0.0:0.0:0.8653:0.1347	.	506;188;500;506;506	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	V	500;506;506;188;506	ENSP00000394080:L500V;ENSP00000249910:L506V;ENSP00000424873:L506V;ENSP00000376959:L188V;ENSP00000422327:L506V	ENSP00000249910:L506V	L	-	1	0	MBD4	130634676	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.165000	0.71891	1.488000	0.48433	0.558000	0.71614	CTT		0.408	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		13	65	0	0	0	0.001368	0	13	65				
COL6A6	131873	broad.mit.edu	37	3	130305379	130305379	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:130305379G>C	ENST00000358511.6	+	10	4031	c.4000G>C	c.(4000-4002)Gat>Cat	p.D1334H	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1334H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1334	Nonhelical region.|VWFA 7. {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.D1334H(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						TGTTGCTCTGGATGGACCTGC	0.423																																							uc010htl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4000-4002)GAT>CAT		collagen type VI alpha 6 precursor							214.0	209.0	211.0					3																	130305379		1968	4172	6140	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130305379G>C	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.4000G>C	3.37:g.130305379G>C	ENSP00000351310:p.Asp1334His					COL6A6_uc003eni.3_5'UTR	p.D1334H	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			10	4031	+			1334			VWFA 7.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4000G>C	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.16|13.16	2.153304|2.153304	0.38021|0.38021	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000358511;ENST00000453409|ENST00000511332	T;T|.	0.38401|.	1.14;1.14|.	5.65|5.65	3.88|3.88	0.44766|0.44766	von Willebrand factor, type A (2);|.	.|.	.|.	.|.	.|.	T|T	0.59555|0.59555	0.2202|0.2202	L|L	0.50333|0.50333	1.59|1.59	0.40746|0.40746	D|D	0.982877|0.982877	P|.	0.49961|.	0.93|.	P|.	0.44732|.	0.459|.	T|T	0.56974|0.56974	-0.7890|-0.7890	9|5	0.51188|.	T|.	0.08|.	.|.	11.4898|11.4898	0.50375|0.50375	0.1477:0.0:0.8523:0.0|0.1477:0.0:0.8523:0.0	.|.	1334|.	A6NMZ7|.	CO6A6_HUMAN|.	H|C	1334|91	ENSP00000351310:D1334H;ENSP00000399236:D1334H|.	ENSP00000351310:D1334H|.	D|W	+|+	1|3	0|0	COL6A6|COL6A6	131788069|131788069	1.000000|1.000000	0.71417|0.71417	0.594000|0.594000	0.28785|0.28785	0.026000|0.026000	0.11368|0.11368	3.186000|3.186000	0.50942|0.50942	0.868000|0.868000	0.35678|0.35678	0.650000|0.650000	0.86243|0.86243	GAT|TGG		0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		10	90	0	0	0	0.001368	0	10	90				
PIK3R4	30849	broad.mit.edu	37	3	130463714	130463714	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:130463714G>A	ENST00000356763.3	-	2	906	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R117C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAGAATGGACGGGTACTGATG	0.453																																							uc003enj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(349-351)CGT>TGT		phosphoinositide-3-kinase, regulatory subunit 4							133.0	125.0	127.0					3																	130463714		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463714G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.349C>T	3.37:g.130463714G>A	ENSP00000349205:p.Arg117Cys						p.R117C	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			2	930	-			117			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.349C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815862	0.70912	.	.	ENSG00000196455	ENST00000356763	T	0.12672	2.66	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.46816	-0.9164	10	0.87932	D	0	-7.9448	15.0884	0.72174	0.0:0.0:0.8496:0.1504	.	117	Q99570	PI3R4_HUMAN	C	117	ENSP00000349205:R117C	ENSP00000349205:R117C	R	-	1	0	PIK3R4	131946404	1.000000	0.71417	0.825000	0.32803	0.953000	0.61014	2.958000	0.49145	2.657000	0.90304	0.561000	0.74099	CGT		0.453	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		20	59	0	0	0	0.010504	0	20	59				
CPNE4	131034	broad.mit.edu	37	3	131624169	131624169	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:131624169G>C	ENST00000512055.1	-	6	2245	c.119C>G	c.(118-120)gCc>gGc	p.A40G	CPNE4_ENST00000511604.1_Missense_Mutation_p.A40G|CPNE4_ENST00000512332.1_Missense_Mutation_p.A58G|CPNE4_ENST00000429747.1_Missense_Mutation_p.A40G|CPNE4_ENST00000502818.1_Missense_Mutation_p.A58G			Q96A23	CPNE4_HUMAN	copine IV	40	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.A40G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTTGGAAAGGGCATCTCTGTC	0.512																																							uc003eok.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(118-120)GCC>GGC		copine IV							126.0	113.0	117.0					3																	131624169		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131624169G>C	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.119C>G	3.37:g.131624169G>C	ENSP00000421705:p.Ala40Gly					CPNE4_uc011blq.1_Missense_Mutation_p.A58G|CPNE4_uc003eol.2_Missense_Mutation_p.A58G|CPNE4_uc003eom.2_Missense_Mutation_p.A40G	p.A40G	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			2	554	-			40			C2 1.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.119C>G	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475849	0.63737	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;1.13	5.56	5.56	0.83823	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.28458	0.855	0.80722	D	1	B;B	0.14012	0.005;0.009	B;B	0.15484	0.013;0.013	T	0.55114	-0.8191	10	0.56958	D	0.05	-19.2311	19.534	0.95242	0.0:0.0:1.0:0.0	.	58;40	Q96A23-2;Q96A23	.;CPNE4_HUMAN	G	40;40;58;40;58;40;40;40	ENSP00000421705:A40G;ENSP00000411904:A40G;ENSP00000424853:A58G;ENSP00000423811:A40G;ENSP00000421646:A58G;ENSP00000425506:A40G;ENSP00000427561:A40G;ENSP00000421394:A40G	ENSP00000411904:A40G	A	-	2	0	CPNE4	133106859	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	9.476000	0.97823	2.613000	0.88420	0.655000	0.94253	GCC		0.512	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		8	64	0	0	0	0.004482	0	8	64				
TF	7018	broad.mit.edu	37	3	133494434	133494434	+	Silent	SNP	C	C	T	rs142894328		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:133494434C>T	ENST00000402696.3	+	15	2330	c.1845C>T	c.(1843-1845)tgC>tgT	p.C615C	TF_ENST00000264998.3_Silent_p.C488C	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	615	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.C615C(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AGGAAGCTTGCGTCCACAAGA	0.532																																							uc003epu.1		NA																	2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)|skin(1)	2						c.(1843-1845)TGC>TGT		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	C		1,4405	2.1+/-5.4	0,1,2202	143.0	137.0	139.0		1845	-9.8	0.0	3	dbSNP_134	139	0,8600		0,0,4300	no	coding-synonymous	TF	NM_001063.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		615/699	133494434	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133494434C>T		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1845C>T	3.37:g.133494434C>T						TF_uc011blt.1_Silent_p.C488C|TF_uc003epw.1_Silent_p.C54C|TF_uc003epv.1_Silent_p.C615C	p.C615C	NM_001063	NP_001054	P02787	TRFE_HUMAN			20	3573	+			615			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	c.1845C>T	CCDS3080.1																																																																																				0.532	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		5	65	0	0	0	0.001168	0	5	65				
TRIM42	287015	broad.mit.edu	37	3	140401413	140401413	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:140401413C>A	ENST00000286349.3	+	2	642	c.451C>A	c.(451-453)Cgg>Agg	p.R151R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	151						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R151R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATGTGCAGCCGGCTGCGCCT	0.592																																							uc003eto.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(451-453)CGG>AGG		tripartite motif-containing 42							108.0	103.0	105.0					3																	140401413		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401413C>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.451C>A	3.37:g.140401413C>A							p.R151R	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			2	642	+			151			RING-type.		A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.451C>A	CCDS3113.1																																																																																				0.592	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		50	47	1	0	4.10826e-27	0.00361	7.7282e-27	50	47				
TRPC1	7220	broad.mit.edu	37	3	142499758	142499758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:142499758G>T	ENST00000476941.1	+	6	1333	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	TRPC1_ENST00000273482.6_Nonsense_Mutation_p.E249*	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	283					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.E249*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCGTGAATTGGAAGTTATTCT	0.373																																							uc003evc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(847-849)GAA>TAA		transient receptor potential cation channel,							88.0	87.0	88.0					3																	142499758		2203	4300	6503	SO:0001587	stop_gained	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499758G>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.847G>T	3.37:g.142499758G>T	ENSP00000419313:p.Glu283*					TRPC1_uc003evb.2_Nonsense_Mutation_p.E249*	p.E283*	NM_003304	NP_003295	P48995	TRPC1_HUMAN			6	983	+			283			Cytoplasmic (Potential).		Q14CE4	Nonsense_Mutation	SNP	ENST00000476941.1	37	c.847G>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	43	9.976081	0.99309	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-31.5275	20.04	0.97581	0.0:0.0:1.0:0.0	.	.	.	.	X	283;249	.	ENSP00000273482:E249X	E	+	1	0	TRPC1	143982448	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	GAA		0.373	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		5	70	1	0	1.23904e-05	0.000602	1.57558e-05	5	70				
PLSCR4	57088	broad.mit.edu	37	3	145914458	145914458	+	Silent	SNP	T	T	C	rs141714822		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:145914458T>C	ENST00000354952.2	-	7	987	c.747A>G	c.(745-747)ccA>ccG	p.P249P	PLSCR4_ENST00000493382.1_Silent_p.P249P|PLSCR4_ENST00000383083.2_Silent_p.P159P|PLSCR4_ENST00000446574.2_Silent_p.P249P|PLSCR4_ENST00000433593.2_Silent_p.P144P	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	249					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.P249P(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AGGTTGAGCATGGCCCACGAA	0.418																																							uc010huy.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(745-747)CCA>CCG		phospholipid scramblase 4 isoform a		T	,,	1,4405	2.1+/-5.4	0,1,2202	158.0	140.0	146.0		477,432,747	-4.5	0.8	3	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PLSCR4	NM_001128306.1,NM_001177304.1,NM_020353.2	,,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,,	159/240,144/225,249/330	145914458	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145914458T>C	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.747A>G	3.37:g.145914458T>C						PLSCR4_uc010huz.2_Silent_p.P249P|PLSCR4_uc003evt.3_Silent_p.P249P|PLSCR4_uc010hva.2_Silent_p.P159P|PLSCR4_uc003evu.3_Silent_p.P144P	p.P249P	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			7	1076	-			249			Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Silent	SNP	ENST00000354952.2	37	c.747A>G	CCDS3133.1																																																																																				0.418	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		19	103	0	0	0	0.00333	0	19	103				
SIAH2	6478	broad.mit.edu	37	3	150460046	150460046	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:150460046C>A	ENST00000312960.3	-	2	1384	c.857G>T	c.(856-858)gGt>gTt	p.G286V		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	286	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G286V(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGCAGCCACACCGTCATGAAT	0.527																																							uc003eyi.2		NA																	1	Substitution - Missense(1)	p.G286S(1)	lung(1)	ovary(1)|lung(1)	2						c.(856-858)GGT>GTT		seven in absentia homolog 2							90.0	75.0	80.0					3																	150460046		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460046C>A	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.857G>T	3.37:g.150460046C>A	ENSP00000322457:p.Gly286Val						p.G286V	NM_005067	NP_005058	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1484	-			286			SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.857G>T	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240597	0.79912	.	.	ENSG00000181788	ENST00000312960	T	0.28255	1.62	5.81	5.81	0.92471	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.66416	-0.5929	10	0.72032	D	0.01	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	286	O43255	SIAH2_HUMAN	V	286	ENSP00000322457:G286V	ENSP00000322457:G286V	G	-	2	0	SIAH2	151942736	1.000000	0.71417	0.868000	0.34077	0.447000	0.32167	7.802000	0.85969	2.746000	0.94184	0.591000	0.81541	GGT		0.527	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		8	65	1	0	1.12685e-05	0.004482	1.44938e-05	8	65				
MED12L	116931	broad.mit.edu	37	3	151078261	151078261	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:151078261G>T	ENST00000474524.1	+	19	2758		c.e19-1		MED12L_ENST00000273432.4_Splice_Site|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCTCCTCAGGTTGTGTGGT	0.373																																							uc003eyp.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.e19-1		mediator of RNA polymerase II transcription,							230.0	226.0	227.0					3																	151078261		2203	4300	6503	SO:0001630	splice_region_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151078261G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2721-1G>T	3.37:g.151078261G>T						MED12L_uc011bnz.1_Splice_Site_p.G767_splice|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Splice_Site_p.G71_splice	p.G907_splice	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		19	2759	+								Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Splice_Site	SNP	ENST00000474524.1	37	c.2721_splice	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587529	0.86851	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6915	0.96002	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12L	152560951	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.062000	0.93920	2.824000	0.97209	0.655000	0.94253	.		0.373	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	Intron	34	190	1	0	1.57351e-24	0.003755	2.94857e-24	34	190				
CCNL1	57018	broad.mit.edu	37	3	156866174	156866174	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:156866174C>A	ENST00000295926.3	-	11	1555	c.1437G>T	c.(1435-1437)cgG>cgT	p.R479R	CCNL1_ENST00000461804.1_Intron|CCNL1_ENST00000479052.1_5'Flank	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	479					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.R479R(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CTGAGTGATCCCGAGACTTGC	0.458																																							uc003fbf.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(1)|skin(1)	5						c.(1435-1437)CGG>CGT		cyclin L1							260.0	236.0	244.0					3																	156866174		2203	4300	6503	SO:0001819	synonymous_variant	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866174C>A	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1437G>T	3.37:g.156866174C>A						CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.2_Silent_p.R273R|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA	p.R479R	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	2036	-			479					B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	ENST00000295926.3	37	c.1437G>T	CCDS3178.1																																																																																				0.458	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		20	195	1	0	8.00594e-06	0.007413	1.04263e-05	20	195				
VEPH1	79674	broad.mit.edu	37	3	157178033	157178033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:157178033C>A	ENST00000362010.2	-	4	773	c.466G>T	c.(466-468)Gca>Tca	p.A156S	VEPH1_ENST00000468233.1_Missense_Mutation_p.A156S|VEPH1_ENST00000543418.1_Missense_Mutation_p.A156S|VEPH1_ENST00000392832.2_Missense_Mutation_p.A156S|VEPH1_ENST00000494677.1_Missense_Mutation_p.A156S|VEPH1_ENST00000537559.1_Missense_Mutation_p.A156S|VEPH1_ENST00000392833.2_Missense_Mutation_p.A156S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	156						plasma membrane (GO:0005886)		p.A156S(2)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTGGTAATTGCAGCCAGAGAC	0.483																																							uc003fbj.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|lung(1)	5						c.(466-468)GCA>TCA		ventricular zone expressed PH domain homolog 1							168.0	158.0	161.0					3																	157178033		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157178033C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.466G>T	3.37:g.157178033C>A	ENSP00000354919:p.Ala156Ser					VEPH1_uc003fbk.1_Missense_Mutation_p.A156S|VEPH1_uc010hvu.1_Missense_Mutation_p.A156S|VEPH1_uc003fbm.2_Missense_Mutation_p.A156S|VEPH1_uc003fbn.2_Missense_Mutation_p.A156S	p.A156S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		4	783	-			156					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.466G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824626	0.50739	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	T;T;T;T;T;T;T;T;T	0.60920	0.96;0.96;0.96;0.96;0.15;1.29;1.29;1.29;1.29	4.76	3.86	0.44501	.	0.055386	0.64402	N	0.000001	T	0.60869	0.2302	M	0.80422	2.495	0.80722	D	1	B;B;B	0.32245	0.241;0.361;0.155	B;B;B	0.31946	0.138;0.072;0.065	T	0.66548	-0.5896	10	0.87932	D	0	-5.5255	14.4599	0.67442	0.1484:0.8515:0.0:0.0	.	156;156;156	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	S	156;156;156;156;44;156;156;156;156	ENSP00000376578:A156S;ENSP00000354919:A156S;ENSP00000446258:A156S;ENSP00000376577:A156S;ENSP00000418963:A44S;ENSP00000419193:A156S;ENSP00000443868:A156S;ENSP00000417268:A156S;ENSP00000420097:A156S	ENSP00000354919:A156S	A	-	1	0	VEPH1	158660727	1.000000	0.71417	0.783000	0.31826	0.524000	0.34500	3.676000	0.54612	1.091000	0.41335	0.655000	0.94253	GCA		0.483	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		38	49	1	0	3.62531e-18	0.004289	6.60632e-18	38	49				
MFSD1	64747	broad.mit.edu	37	3	158537473	158537473	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:158537473T>A	ENST00000264266.8	+	8	750	c.688T>A	c.(688-690)Ttg>Atg	p.L230M	MFSD1_ENST00000415822.2_Missense_Mutation_p.L279M|MFSD1_ENST00000392813.4_Missense_Mutation_p.L240M			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	230					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.L230M(1)|p.L279M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATCTGTGCCTTGGCTCTTGC	0.353																																					Pancreas(62;1186 1654 36636 37908)	Pancreas(62;1186 1654 36636 37908)	uc003fcl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(688-690)TTG>ATG		major facilitator superfamily domain containing							60.0	58.0	59.0					3																	158537473		2203	4300	6503	SO:0001583	missense	64747				transmembrane transport	integral to membrane		g.chr3:158537473T>A	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.688T>A	3.37:g.158537473T>A	ENSP00000264266:p.Leu230Met					MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.L133M|MFSD1_uc011bow.1_Missense_Mutation_p.L191M|MFSD1_uc011box.1_Missense_Mutation_p.L157M	p.L230M	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		8	718	+			230			Helical; (Potential).		B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37	c.688T>A		.	.	.	.	.	.	.	.	.	.	T	19.24	3.789254	0.70337	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159;ENST00000477743	T;D;T;D	0.83075	0.06;-1.68;0.06;-1.68	5.6	3.27	0.37495	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.230909	0.38663	N	0.001611	D	0.89815	0.6824	M	0.87547	2.89	0.58432	D	0.999993	D;D	0.67145	0.996;0.996	D;D	0.72982	0.979;0.979	D	0.88160	0.2857	10	0.46703	T	0.11	.	7.2331	0.26053	0.0:0.3464:0.0:0.6536	.	240;230	C9JS94;Q9H3U5	.;MFSD1_HUMAN	M	279;240;230;154;64	ENSP00000403117:L279M;ENSP00000376560:L240M;ENSP00000264266:L230M;ENSP00000417163:L64M	ENSP00000264266:L230M	L	+	1	2	MFSD1	160020167	0.142000	0.22610	0.999000	0.59377	0.989000	0.77384	0.475000	0.22164	0.970000	0.38263	0.477000	0.44152	TTG		0.353	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		15	23	0	0	0	0.004007	0	15	23				
MFSD1	64747	broad.mit.edu	37	3	158538032	158538032	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:158538032G>C	ENST00000264266.8	+	9	842	c.780G>C	c.(778-780)aaG>aaC	p.K260N	MFSD1_ENST00000415822.2_Missense_Mutation_p.K309N|MFSD1_ENST00000392813.4_Missense_Mutation_p.K270N			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	260					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.K309N(1)|p.K260N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGATGTAAAGGACTTCTCCT	0.363																																					Pancreas(62;1186 1654 36636 37908)	Pancreas(62;1186 1654 36636 37908)	uc003fcl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(778-780)AAG>AAC		major facilitator superfamily domain containing							196.0	178.0	184.0					3																	158538032		2203	4299	6502	SO:0001583	missense	64747				transmembrane transport	integral to membrane		g.chr3:158538032G>C	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.780G>C	3.37:g.158538032G>C	ENSP00000264266:p.Lys260Asn					MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.K163N|MFSD1_uc011bow.1_Missense_Mutation_p.K221N|MFSD1_uc011box.1_Missense_Mutation_p.K187N	p.K260N	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		9	810	+			260					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37	c.780G>C		.	.	.	.	.	.	.	.	.	.	G	13.43	2.234265	0.39498	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159;ENST00000477743	T;T;T;D	0.82711	0.06;0.06;0.06;-1.64	5.23	3.42	0.39159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052740	0.85682	D	0.000000	D	0.88837	0.6545	M	0.82517	2.595	0.58432	D	0.999994	D;D	0.63046	0.992;0.966	D;P	0.65140	0.932;0.842	D	0.86747	0.1958	10	0.27785	T	0.31	.	9.7797	0.40640	0.2193:0.0:0.7807:0.0	.	270;260	C9JS94;Q9H3U5	.;MFSD1_HUMAN	N	309;270;260;184;94	ENSP00000403117:K309N;ENSP00000376560:K270N;ENSP00000264266:K260N;ENSP00000417163:K94N	ENSP00000264266:K260N	K	+	3	2	MFSD1	160020726	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	1.859000	0.39418	1.198000	0.43158	0.650000	0.86243	AAG		0.363	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		7	76	0	0	0	0.001984	0	7	76				
IL12A	3592	broad.mit.edu	37	3	159706910	159706910	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:159706910G>T	ENST00000305579.2	+	1	374	c.67G>T	c.(67-69)Gcg>Tcg	p.A23S	IL12A_ENST00000480787.1_Missense_Mutation_p.A23S|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Missense_Mutation_p.A23S	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	0					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)	p.A23S(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCTGCATCCAGCGGCTCGCCC	0.672											OREG0015908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003fcx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GCG>TCG		interleukin 12A precursor							17.0	20.0	19.0					3																	159706910		2200	4296	6496	SO:0001583	missense	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159706910G>T	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.67G>T	3.37:g.159706910G>T	ENSP00000303231:p.Ala23Ser		OREG0015908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1803	uc003fcw.1_RNA	p.A23S	NM_000882	NP_000873	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		1	282	+			Error:Variant_position_missing_in_P29459_after_alignment					Q96QZ1	Missense_Mutation	SNP	ENST00000305579.2	37	c.67G>T	CCDS3187.1	.	.	.	.	.	.	.	.	.	.	G	9.127	1.010393	0.19277	.	.	ENSG00000168811	ENST00000305579;ENST00000480787;ENST00000466512	.	.	.	3.72	1.71	0.24356	.	0.643767	0.12870	N	0.432400	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B	0.30793	0.295	B	0.26310	0.068	T	0.23547	-1.0185	9	0.18276	T	0.48	.	4.6777	0.12720	0.1259:0.2254:0.6487:0.0	.	23	O60595	.	S	23	.	ENSP00000303231:A23S	A	+	1	0	IL12A	161189604	0.001000	0.12720	0.011000	0.14972	0.079000	0.17450	0.028000	0.13644	0.927000	0.37143	0.655000	0.94253	GCG		0.672	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882		4	12	1	0	3.59834e-05	0.001168	4.49329e-05	4	12				
SI	6476	broad.mit.edu	37	3	164777083	164777083	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:164777083G>T	ENST00000264382.3	-	11	1213	c.1151C>A	c.(1150-1152)aCa>aAa	p.T384K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	384	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.T384K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGTGACCTGTGTATCCTGAAA	0.343										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1150-1152)ACA>AAA		sucrase-isomaltase	Acarbose(DB00284)						113.0	104.0	107.0					3																	164777083		2201	4299	6500	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164777083G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1151C>A	3.37:g.164777083G>T	ENSP00000264382:p.Thr384Lys	HNSCC(35;0.089)					p.T384K	NM_001041	NP_001032	P14410	SUIS_HUMAN			11	1213	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	384			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1151C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074395	0.36566	.	.	ENSG00000090402	ENST00000264382	D	0.93366	-3.21	5.78	3.67	0.42095	Glycoside hydrolase, superfamily (1);	0.382958	0.33023	N	0.005379	D	0.91496	0.7315	M	0.85630	2.765	0.26507	N	0.974673	P	0.43607	0.812	B	0.36766	0.232	D	0.87684	0.2549	10	0.87932	D	0	.	6.7502	0.23483	0.3491:0.0:0.6509:0.0	.	384	P14410	SUIS_HUMAN	K	384	ENSP00000264382:T384K	ENSP00000264382:T384K	T	-	2	0	SI	166259777	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	2.958000	0.49145	1.450000	0.47717	0.557000	0.71058	ACA		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		20	34	1	0	5.45024e-15	0.00333	9.45834e-15	20	34				
SI	6476	broad.mit.edu	37	3	164777759	164777759	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:164777759G>T	ENST00000264382.3	-	10	1139	c.1077C>A	c.(1075-1077)cgC>cgA	p.R359R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	359	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.R359R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TATAATTCCAGCGACTTAGTT	0.373										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1075-1077)CGC>CGA		sucrase-isomaltase	Acarbose(DB00284)						142.0	155.0	151.0					3																	164777759		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164777759G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1077C>A	3.37:g.164777759G>T		HNSCC(35;0.089)					p.R359R	NM_001041	NP_001032	P14410	SUIS_HUMAN			10	1139	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	359			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.1077C>A	CCDS3196.1																																																																																				0.373	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		77	120	1	0	2.10938e-32	0.00361	3.98865e-32	77	120				
BCHE	590	broad.mit.edu	37	3	165548187	165548187	+	Missense_Mutation	SNP	G	G	T	rs114706984	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:165548187G>T	ENST00000264381.3	-	2	801	c.635C>A	c.(634-636)gCc>gAc	p.A212D	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	212					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.A212D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCCACCAAAGGCTGCTATATT	0.438																																							uc003fem.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4	GRCh37	CM952422	BCHE	M	rs114706984	c.(634-636)GCC>GAC		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						80.0	85.0	83.0					3																	165548187		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548187G>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.635C>A	3.37:g.165548187G>T	ENSP00000264381:p.Ala212Asp					BCHE_uc003fen.3_Intron	p.A212D	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	795	-			212					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.635C>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033785	0.35893	.	.	ENSG00000114200	ENST00000264381	T	0.69306	-0.39	5.71	4.83	0.62350	Carboxylesterase, type B (1);	0.156175	0.56097	D	0.000034	T	0.69628	0.3132	M	0.84156	2.68	0.80722	D	1	B	0.29270	0.24	B	0.31751	0.135	T	0.69221	-0.5202	10	0.36615	T	0.2	.	14.0981	0.65037	0.0731:0.0:0.9269:0.0	.	212	P06276	CHLE_HUMAN	D	212	ENSP00000264381:A212D	ENSP00000264381:A212D	A	-	2	0	BCHE	167030881	0.011000	0.17503	0.995000	0.50966	0.999000	0.98932	1.666000	0.37460	2.699000	0.92147	0.655000	0.94253	GCC		0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			35	59	1	0	1.58521e-26	0.005524	2.97814e-26	35	59				
GOLIM4	27333	broad.mit.edu	37	3	167742850	167742850	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:167742850C>A	ENST00000470487.1	-	13	2346	c.1657G>T	c.(1657-1659)Gac>Tac	p.D553Y	GOLIM4_ENST00000309027.4_Missense_Mutation_p.D525Y	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	553	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D553Y(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTATTAGGGTCATCTGCTGGG	0.333																																							uc003ffe.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(1)	5						c.(1657-1659)GAC>TAC		golgi integral membrane protein 4							128.0	121.0	124.0					3																	167742850		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167742850C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1657G>T	3.37:g.167742850C>A	ENSP00000417354:p.Asp553Tyr					GOLIM4_uc011bpe.1_Missense_Mutation_p.D554Y|GOLIM4_uc011bpf.1_Missense_Mutation_p.D526Y|GOLIM4_uc011bpg.1_Missense_Mutation_p.D525Y	p.D553Y	NM_014498	NP_055313	O00461	GOLI4_HUMAN			13	2001	-			553			Glu-rich.|Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.1657G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560513	0.86335	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	6.0	6.0	0.97389	.	0.040925	0.85682	D	0.000000	D	0.83064	0.5173	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82954	-0.0201	9	0.66056	D	0.02	-29.9639	20.5595	0.99322	0.0:1.0:0.0:0.0	.	525;553	F8W785;O00461	.;GOLI4_HUMAN	Y	553;525	.	ENSP00000309893:D525Y	D	-	1	0	GOLIM4	169225544	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.449000	0.73473	2.868000	0.98415	0.555000	0.69702	GAC		0.333	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			5	84	1	0	0.000602214	0.000602	0.000682885	5	84				
SLC7A14	57709	broad.mit.edu	37	3	170184886	170184886	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:170184886T>C	ENST00000231706.5	-	8	2588	c.2273A>G	c.(2272-2274)gAg>gGg	p.E758G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	758					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.E758G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AATCAGGGCCTCTGAGTTCTG	0.433																																							uc003fgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(2272-2274)GAG>GGG		solute carrier family 7 (cationic amino acid							156.0	134.0	142.0					3																	170184886		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170184886T>C	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2273A>G	3.37:g.170184886T>C	ENSP00000231706:p.Glu758Gly					CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank	p.E758G	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		8	2589	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		758					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.2273A>G	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938554	0.52972	.	.	ENSG00000013293	ENST00000231706	D	0.88664	-2.41	5.82	5.82	0.92795	.	0.217249	0.38897	N	0.001524	T	0.81884	0.4917	N	0.19112	0.55	0.54753	D	0.999983	B	0.26635	0.155	B	0.21360	0.034	T	0.78481	-0.2187	10	0.39692	T	0.17	.	16.1814	0.81903	0.0:0.0:0.0:1.0	.	758	Q8TBB6	S7A14_HUMAN	G	758	ENSP00000231706:E758G	ENSP00000231706:E758G	E	-	2	0	SLC7A14	171667580	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	5.128000	0.64733	2.234000	0.73211	0.533000	0.62120	GAG		0.433	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		31	106	0	0	0	0.004878	0	31	106				
PLD1	5337	broad.mit.edu	37	3	171394595	171394595	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:171394595C>A	ENST00000351298.4	-	18	2151	c.2025G>T	c.(2023-2025)cgG>cgT	p.R675R	PLD1_ENST00000356327.5_Silent_p.R637R|PLD1_ENST00000340989.4_Silent_p.R675R|PLD1_ENST00000342215.6_Missense_Mutation_p.G566V	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	675	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.R675R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCCAGGGCATCCGGGGCGTGG	0.542																																					NSCLC(149;2174 3517 34058)	NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(2023-2025)CGG>CGT		phospholipase D1 isoform a	Choline(DB00122)						69.0	60.0	63.0					3																	171394595		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171394595C>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2025G>T	3.37:g.171394595C>A						PLD1_uc003fht.2_Silent_p.R637R|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_5'UTR	p.R675R	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		18	2141	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		675			Catalytic.			Silent	SNP	ENST00000351298.4	37	c.2025G>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678658	0.47886	.	.	ENSG00000075651	ENST00000342215	T	0.36157	1.27	5.81	1.79	0.24919	.	.	.	.	.	T	0.33294	0.0858	.	.	.	0.46203	D	0.998922	.	.	.	.	.	.	T	0.05068	-1.0908	6	0.27785	T	0.31	-17.873	6.9399	0.24486	0.0:0.5689:0.2366:0.1945	.	.	.	.	V	566	ENSP00000339936:G566V	ENSP00000339936:G566V	G	-	2	0	PLD1	172877289	0.990000	0.36364	1.000000	0.80357	0.985000	0.73830	0.261000	0.18442	0.780000	0.33566	0.557000	0.71058	GGA		0.542	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		19	18	1	0	1.22574e-08	0.002299	1.84558e-08	19	18				
PLD1	5337	broad.mit.edu	37	3	171404495	171404495	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:171404495C>A	ENST00000351298.4	-	16	1973	c.1847G>T	c.(1846-1848)gGa>gTa	p.G616V	PLD1_ENST00000356327.5_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.G616V|PLD1_ENST00000342215.6_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	616	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.G616V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCTAGTGAGTCCTTGCTCAGA	0.423																																					NSCLC(149;2174 3517 34058)	NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1846-1848)GGA>GTA		phospholipase D1 isoform a	Choline(DB00122)						138.0	143.0	141.0					3																	171404495		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171404495C>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1847G>T	3.37:g.171404495C>A	ENSP00000342793:p.Gly616Val					PLD1_uc003fht.2_Intron	p.G616V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		16	1963	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		616			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1847G>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079597	0.36662	.	.	ENSG00000075651	ENST00000351298;ENST00000340989	T;T	0.06768	3.41;3.26	5.68	3.84	0.44239	.	0.643361	0.14502	N	0.315654	T	0.04861	0.0131	N	0.11427	0.14	0.80722	D	1	P	0.38195	0.622	B	0.38803	0.282	T	0.51942	-0.8641	10	0.17832	T	0.49	-8.6106	8.9575	0.35827	0.0:0.8208:0.0:0.1792	.	616	Q13393	PLD1_HUMAN	V	616	ENSP00000342793:G616V;ENSP00000340326:G616V	ENSP00000340326:G616V	G	-	2	0	PLD1	172887189	0.996000	0.38824	0.773000	0.31616	0.819000	0.46315	3.598000	0.54038	0.708000	0.31955	0.557000	0.71058	GGA		0.423	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		59	81	1	0	5.98616e-33	0.00361	1.1334e-32	59	81				
MRPL47	57129	broad.mit.edu	37	3	179316492	179316492	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:179316492G>C	ENST00000476781.1	-	4	402	c.373C>G	c.(373-375)Cca>Gca	p.P125A	MRPL47_ENST00000392659.2_Missense_Mutation_p.P15A|MRPL47_ENST00000259038.2_Missense_Mutation_p.P105A	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	125					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.P125A(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTTGGCATTGGCAATCTCTGC	0.443																																							uc003fjz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(373-375)CCA>GCA		mitochondrial ribosomal protein L47 isoform a							142.0	133.0	136.0					3																	179316492		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179316492G>C	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.373C>G	3.37:g.179316492G>C	ENSP00000417602:p.Pro125Ala					MRPL47_uc003fka.2_Missense_Mutation_p.P15A|MRPL47_uc003fkb.2_Missense_Mutation_p.P105A	p.P125A	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		4	395	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		125					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.373C>G	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646965	0.67358	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.43688	1.57;1.59;0.94	6.17	6.17	0.99709	.	0.056187	0.64402	D	0.000001	T	0.53351	0.1791	L	0.39020	1.185	0.54753	D	0.999981	D;D	0.69078	0.997;0.997	D;D	0.72625	0.962;0.978	T	0.27400	-1.0075	10	0.07325	T	0.83	-15.708	20.4745	0.99168	0.0:0.0:1.0:0.0	.	105;125	Q9HD33-2;Q9HD33	.;RM47_HUMAN	A	125;105;15	ENSP00000417602:P125A;ENSP00000259038:P105A;ENSP00000376427:P15A	ENSP00000259038:P105A	P	-	1	0	MRPL47	180799186	1.000000	0.71417	0.902000	0.35471	0.928000	0.56348	5.777000	0.68931	2.941000	0.99782	0.655000	0.94253	CCA		0.443	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		26	58	0	0	0	0.004656	0	26	58				
PEX5L	51555	broad.mit.edu	37	3	179537683	179537683	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:179537683C>A	ENST00000467460.1	-	9	1234	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S	PEX5L_ENST00000465751.1_Missense_Mutation_p.A278S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A300S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A110S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A194S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A259S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A267S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A243S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A194S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	302					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.A302S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGGTTCTGGGCTTCTTGGTTC	0.423																																							uc003fki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(904-906)GCC>TCC		peroxisomal biogenesis factor 5-like							261.0	230.0	241.0					3																	179537683		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179537683C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.904G>T	3.37:g.179537683C>A	ENSP00000419975:p.Ala302Ser					PEX5L_uc011bqd.1_Missense_Mutation_p.A259S|PEX5L_uc011bqe.1_Missense_Mutation_p.A110S|PEX5L_uc011bqf.1_Missense_Mutation_p.A194S|PEX5L_uc003fkj.1_Missense_Mutation_p.A267S|PEX5L_uc010hxd.1_Missense_Mutation_p.A300S|PEX5L_uc011bqg.1_Missense_Mutation_p.A278S|PEX5L_uc011bqh.1_Missense_Mutation_p.A243S	p.A302S	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		9	1034	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		302					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.904G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327667	0.24080	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.27;-2.24;-2.23;-2.27;-2.27;-2.24;-2.27	5.5	4.61	0.57282	.	0.251476	0.39615	N	0.001308	T	0.73908	0.3647	N	0.14661	0.345	0.39165	D	0.962487	B;B;B;B;B;B	0.15473	0.004;0.004;0.001;0.013;0.009;0.013	B;B;B;B;B;B	0.15484	0.006;0.006;0.002;0.013;0.009;0.006	T	0.66752	-0.5844	10	0.19590	T	0.45	-9.2258	8.6954	0.34293	0.2671:0.6623:0.0:0.0706	.	243;278;194;300;267;302	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	S	302;300;267;300;194;110;259;190;243;194;278	ENSP00000419975:A302S;ENSP00000263962:A300S;ENSP00000418440:A267S;ENSP00000376420:A194S;ENSP00000418665:A110S;ENSP00000420555:A259S;ENSP00000418054:A243S;ENSP00000417270:A194S;ENSP00000419348:A278S	ENSP00000263962:A300S	A	-	1	0	PEX5L	181020377	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.862000	0.27899	1.298000	0.44778	0.655000	0.94253	GCC		0.423	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		7	71	1	0	1.06961e-07	0.00308	1.54041e-07	7	71				
ABCC5	10057	broad.mit.edu	37	3	183643372	183643372	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:183643372C>A	ENST00000334444.6	-	29	4423	c.4183G>T	c.(4183-4185)Gat>Tat	p.D1395Y	ABCC5_ENST00000265586.6_Missense_Mutation_p.D1352Y	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1395	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.D1395Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATAATCCTATCGGAGCCTAGA	0.542																																							uc003fmg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(4183-4185)GAT>TAT		ATP-binding cassette, sub-family C, member 5							120.0	117.0	118.0					3																	183643372		2002	4183	6185	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183643372C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.4183G>T	3.37:g.183643372C>A	ENSP00000333926:p.Asp1395Tyr					ABCC5_uc011bqt.1_Missense_Mutation_p.D923Y|ABCC5_uc010hxl.2_Missense_Mutation_p.D1352Y	p.D1395Y	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		29	4348	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1395			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.4183G>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836507	0.71373	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.85411	-1.98;-1.98	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.185193	0.48286	D	0.000187	D	0.95940	0.8678	H	0.98738	4.315	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97752	1.0215	10	0.87932	D	0	-20.254	18.5302	0.90989	0.0:1.0:0.0:0.0	.	1352;1395	Q86UX3;O15440	.;MRP5_HUMAN	Y	1395;1352	ENSP00000333926:D1395Y;ENSP00000265586:D1352Y	ENSP00000265586:D1352Y	D	-	1	0	ABCC5	185126066	0.976000	0.34144	0.989000	0.46669	0.988000	0.76386	2.240000	0.43088	2.607000	0.88179	0.655000	0.94253	GAT		0.542	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		7	48	1	0	8.12818e-05	0.001984	9.82943e-05	7	48				
HTR3C	170572	broad.mit.edu	37	3	183774708	183774708	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:183774708C>A	ENST00000318351.1	+	5	469	c.435C>A	c.(433-435)agC>agA	p.S145R		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	145					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.S145R(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CCTATATCAGCAGTGAAGGTC	0.483																																							uc003fmk.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(433-435)AGC>AGA		5-hydroxytryptamine receptor 3 subunit C							196.0	169.0	178.0					3																	183774708		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183774708C>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.435C>A	3.37:g.183774708C>A	ENSP00000322617:p.Ser145Arg						p.S145R	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	469	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		145			Extracellular (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.435C>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.770504	0.49680	.	.	ENSG00000178084	ENST00000318351	T	0.79749	-1.3	4.92	-0.877	0.10621	Neurotransmitter-gated ion-channel ligand-binding (3);	1.334630	0.04173	N	0.325062	T	0.70876	0.3274	L	0.37561	1.115	0.09310	N	1	B	0.15473	0.013	B	0.22152	0.038	T	0.51276	-0.8726	10	0.10111	T	0.7	-7.1834	9.3221	0.37971	0.0:0.5168:0.0:0.4832	.	145	Q8WXA8	5HT3C_HUMAN	R	145	ENSP00000322617:S145R	ENSP00000322617:S145R	S	+	3	2	HTR3C	185257402	0.000000	0.05858	0.000000	0.03702	0.858000	0.48976	0.185000	0.16958	-0.055000	0.13244	0.655000	0.94253	AGC		0.483	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		9	106	1	0	1.76689e-08	0.006214	2.62778e-08	9	106				
IL1RAP	3556	broad.mit.edu	37	3	190363614	190363614	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:190363614A>G	ENST00000412504.2	+	10	1580	c.1328A>G	c.(1327-1329)gAc>gGc	p.D443G	IL1RAP_ENST00000072516.3_Missense_Mutation_p.D443G|IL1RAP_ENST00000317757.3_Missense_Mutation_p.D443G|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D443G|IL1RAP_ENST00000439062.1_Missense_Mutation_p.D443G|IL1RAP_ENST00000443369.2_Missense_Mutation_p.D443G			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	443	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.D443G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TTTGACCGAGACAGTCTGCCT	0.433																																							uc003fsm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1327-1329)GAC>GGC		interleukin 1 receptor accessory protein isoform							85.0	79.0	81.0					3																	190363614		2203	4300	6503	SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190363614A>G	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1328A>G	3.37:g.190363614A>G	ENSP00000412053:p.Asp443Gly					IL1RAP_uc010hzg.1_Missense_Mutation_p.D443G|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.D443G|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.D443G	p.D443G	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	11	1534	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		443			Cytoplasmic (Potential).|TIR.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.1328A>G	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455690	0.84209	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000317757	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.49	5.49	0.81192	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62946	-0.6746	10	0.87932	D	0	.	14.7742	0.69703	1.0:0.0:0.0:0.0	.	443;443	Q9NPH3-5;Q9NPH3	.;IL1AP_HUMAN	G	443	ENSP00000072516:D443G;ENSP00000408893:D443G;ENSP00000412053:D443G;ENSP00000401132:D443G;ENSP00000390541:D443G;ENSP00000314807:D443G	ENSP00000072516:D443G	D	+	2	0	IL1RAP	191846308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.817000	0.91985	2.088000	0.63022	0.533000	0.62120	GAC		0.433	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			3	42	0	0	0	0.004672	0	3	42				
OSTN	344901	broad.mit.edu	37	3	190930383	190930383	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:190930383G>T	ENST00000339051.1	+	1	62	c.62G>T	c.(61-63)aGc>aTc	p.S21I	OSTN_ENST00000445281.1_Missense_Mutation_p.S21I|OSTN-AS1_ENST00000430375.1_RNA	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	21					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)		p.S21I(1)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		ACACTGTGGAGCTCAGGAAAA	0.388																																							uc011bsn.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(61-63)AGC>ATC		osteocrin precursor							119.0	102.0	108.0					3																	190930383		2203	4300	6503	SO:0001583	missense	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190930383G>T	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.62G>T	3.37:g.190930383G>T	ENSP00000342356:p.Ser21Ile						p.S21I	NM_198184	NP_937827	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	1	62	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		21					A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	c.62G>T	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084763	0.36758	.	.	ENSG00000188729	ENST00000445281;ENST00000339051	.	.	.	5.76	3.94	0.45596	.	0.440276	0.25253	N	0.032009	T	0.43986	0.1272	L	0.47716	1.5	0.09310	N	0.999992	P	0.42456	0.78	P	0.47470	0.548	T	0.28299	-1.0048	9	0.56958	D	0.05	-2.1813	10.6588	0.45690	0.0728:0.2467:0.6805:0.0	.	21	P61366	OSTN_HUMAN	I	21	.	ENSP00000342356:S21I	S	+	2	0	OSTN	192413077	1.000000	0.71417	0.999000	0.59377	0.179000	0.23085	1.418000	0.34782	0.362000	0.24319	-0.813000	0.03139	AGC		0.388	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		11	11	1	0	9.31168e-06	0.001855	1.20836e-05	11	11				
TFRC	7037	broad.mit.edu	37	3	195792371	195792371	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:195792371G>T	ENST00000360110.4	-	10	1310	c.1141C>A	c.(1141-1143)Ctg>Atg	p.L381M	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.L300M|TFRC_ENST00000392396.3_Missense_Mutation_p.L381M|TFRC_ENST00000535031.1_Missense_Mutation_p.L99M|TFRC_ENST00000465288.1_5'Flank	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	381					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.L381M(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ATCTCTTTCAGCACATTGCTC	0.453			T	BCL6	NHL																																		uc003fvz.3		NA		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1141-1143)CTG>ATG		transferrin receptor							114.0	114.0	114.0					3																	195792371		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195792371G>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1141C>A	3.37:g.195792371G>T	ENSP00000353224:p.Leu381Met					TFRC_uc003fwa.3_Missense_Mutation_p.L381M|TFRC_uc010hzy.2_Missense_Mutation_p.L300M|TFRC_uc011btr.1_Missense_Mutation_p.L99M	p.L381M	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	10	1424	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		381			Extracellular (Potential).		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.1141C>A	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535547	0.27475	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.72615	3.02;3.02;3.02;-0.67	5.2	4.32	0.51571	.	0.199778	0.44688	D	0.000437	T	0.64538	0.2607	L	0.55103	1.725	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.60449	-0.7261	10	0.30078	T	0.28	-8.4033	12.6556	0.56786	0.0:0.0:0.7014:0.2986	.	381	P02786	TFR1_HUMAN	M	381;300;381;99	ENSP00000353224:L381M;ENSP00000390133:L300M;ENSP00000376197:L381M;ENSP00000437753:L99M	ENSP00000353224:L381M	L	-	1	2	TFRC	197276768	0.998000	0.40836	0.998000	0.56505	0.726000	0.41606	3.238000	0.51352	1.423000	0.47198	-0.448000	0.05591	CTG		0.453	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			5	95	1	0	3.59834e-05	0.001168	4.49329e-05	5	95				
PIGG	54872	broad.mit.edu	37	4	533009	533009	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:533009A>G	ENST00000453061.2	+	13	2909	c.2803A>G	c.(2803-2805)Atc>Gtc	p.I935V	PIGG_ENST00000504346.1_Missense_Mutation_p.I846V|PIGG_ENST00000310340.5_Missense_Mutation_p.I927V|PIGG_ENST00000383028.4_Missense_Mutation_p.I802V|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	935					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.I927V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTTCACGTACATCGTTTTGGT	0.393																																							uc003gak.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2803-2805)ATC>GTC		phosphatidylinositol glycan anchor biosynthesis,							195.0	171.0	179.0					4																	533009		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:533009A>G		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2803A>G	4.37:g.533009A>G	ENSP00000415203:p.Ile935Val					PIGG_uc003gaj.3_Missense_Mutation_p.I927V|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.I802V|PIGG_uc003gal.3_Missense_Mutation_p.I846V	p.I935V	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			13	2939	+			935			Helical; (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2803A>G	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	A	5.186	0.219793	0.09863	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.91	-1.09	0.09904	.	0.322842	0.33732	N	0.004614	T	0.19366	0.0465	L	0.42744	1.35	0.37200	D	0.904355	B;B;B	0.28128	0.201;0.028;0.047	B;B;B	0.28784	0.094;0.015;0.033	T	0.13255	-1.0516	10	0.19147	T	0.46	-14.3367	6.4512	0.21903	0.4758:0.3839:0.1404:0.0	.	802;935;927	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	V	927;935;846;802;91	ENSP00000311750:I927V;ENSP00000415203:I935V;ENSP00000424800:I846V;ENSP00000372494:I802V	ENSP00000311750:I927V	I	+	1	0	PIGG	523009	1.000000	0.71417	0.000000	0.03702	0.051000	0.14879	1.442000	0.35046	-0.360000	0.08138	0.533000	0.62120	ATC		0.393	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		12	67	0	0	0	0.001368	0	12	67				
GAK	2580	broad.mit.edu	37	4	844769	844769	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:844769C>A	ENST00000314167.4	-	26	3722	c.3612G>T	c.(3610-3612)atG>atT	p.M1204I	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.M1125I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1204					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.M1204I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCTGCTTCCTCATCTCTGCAA	0.542																																							uc003gbm.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(3610-3612)ATG>ATT		cyclin G associated kinase							207.0	184.0	192.0					4																	844769		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:844769C>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3612G>T	4.37:g.844769C>A	ENSP00000314499:p.Met1204Ile					GAK_uc003gbn.3_Missense_Mutation_p.M1125I|GAK_uc003gbk.3_Missense_Mutation_p.M1I|GAK_uc010ibi.2_Missense_Mutation_p.M429I|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.M1057I	p.M1204I	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	26	3811	-			1204					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.3612G>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.57|15.57	2.872898|2.872898	0.51695|0.51695	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.41065|.	1.01;1.01|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Heat shock protein DnaJ, N-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75729|.	0.3889|.	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.56521|.	0.976;0.963;0.976;0.819|.	D;D;D;P|.	0.75484|.	0.986;0.972;0.986;0.638|.	T|.	0.75775|.	-0.3199|.	10|.	0.72032|.	D|.	0.01|.	-48.2072|-48.2072	16.6821|16.6821	0.85295|0.85295	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1106;1125;1204;1089|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	I|L	480;1204;1125|360	ENSP00000314499:M1204I;ENSP00000421361:M1125I|.	ENSP00000314499:M1204I|.	M|X	-|-	3|2	0|2	GAK|GAK	834769|834769	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.707000|0.707000	0.40811|0.40811	7.643000|7.643000	0.83403|0.83403	2.527000|2.527000	0.85204|0.85204	0.655000|0.655000	0.94253|0.94253	ATG|TGA		0.542	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		24	73	1	0	1.85244e-09	0.00333	2.87237e-09	24	73				
NOP14	8602	broad.mit.edu	37	4	2951843	2951843	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:2951843C>A	ENST00000314262.6	-	8	1148	c.1100G>T	c.(1099-1101)gGg>gTg	p.G367V	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.G367V|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.G367V|NOP14_ENST00000398071.4_Missense_Mutation_p.G367V|NOP14-AS1_ENST00000505731.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	367					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.G367V(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TGTGTCCTCCCCGCCTGAACT	0.532																																							uc003ggj.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1099-1101)GGG>GTG		probable nucleolar complex protein 14							293.0	287.0	289.0					4																	2951843		2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2951843C>A	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1100G>T	4.37:g.2951843C>A	ENSP00000315674:p.Gly367Val					C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.G113V|NOP14_uc003ggk.3_Missense_Mutation_p.G367V|NOP14_uc003ggl.2_Missense_Mutation_p.G367V	p.G367V	NM_003703	NP_003694	P78316	NOP14_HUMAN			8	1172	-			367					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.1100G>T	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	9.360	1.067796	0.20067	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.19	-2.84	0.05751	.	2.457880	0.01324	N	0.011035	T	0.20373	0.0490	L	0.29908	0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.29243	-1.0018	10	0.87932	D	0	-1.6283	1.3486	0.02168	0.2182:0.1394:0.1583:0.4841	.	160;367;367	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	V	367;367;367;367;266	ENSP00000405068:G367V;ENSP00000315674:G367V;ENSP00000427415:G367V;ENSP00000381146:G367V	ENSP00000315674:G367V	G	-	2	0	NOP14	2921641	0.001000	0.12720	0.001000	0.08648	0.043000	0.13939	0.913000	0.28611	-0.215000	0.10063	-0.150000	0.13652	GGG		0.532	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		29	134	1	0	1.80694e-10	0.009535	2.88794e-10	29	134				
OTOP1	133060	broad.mit.edu	37	4	4199402	4199402	+	Missense_Mutation	SNP	G	G	T	rs367576928		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:4199402G>T	ENST00000296358.4	-	5	1183	c.1159C>A	c.(1159-1161)Cgc>Agc	p.R387S		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	387					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R387S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCAGTTTGCGGGCCGGATTT	0.602																																							uc003ghp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1159-1161)CGC>AGC		otopetrin 1							44.0	50.0	48.0					4																	4199402		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199402G>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1159C>A	4.37:g.4199402G>T	ENSP00000296358:p.Arg387Ser						p.R387S	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1189	-			387					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1159C>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810188	0.32053	.	.	ENSG00000163982	ENST00000296358	T	0.19806	2.12	4.9	4.9	0.64082	.	0.154727	0.56097	D	0.000033	T	0.42854	0.1221	M	0.72353	2.195	0.47374	D	0.999405	D	0.71674	0.998	D	0.68039	0.955	T	0.35992	-0.9766	10	0.87932	D	0	-20.627	12.2608	0.54649	0.0:0.0:0.7032:0.2968	.	387	Q7RTM1	OTOP1_HUMAN	S	387	ENSP00000296358:R387S	ENSP00000296358:R387S	R	-	1	0	OTOP1	4250303	1.000000	0.71417	0.997000	0.53966	0.054000	0.15201	4.336000	0.59304	2.435000	0.82474	0.404000	0.27445	CGC		0.602	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		14	48	1	0	5.01169e-05	0.00499	6.18917e-05	14	48				
C4orf50	389197	broad.mit.edu	37	4	5975560	5975560	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:5975560T>A	ENST00000324058.5	-	4	323	c.234A>T	c.(232-234)atA>atT	p.I78I	C4orf50_ENST00000531445.1_Silent_p.I552I			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	78								p.I78I(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CGAGGGAAGCTATCTTGGCCT	0.667																																							uc003git.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(2)|breast(1)	3						c.(232-234)ATA>ATT		hypothetical protein LOC389197							40.0	37.0	38.0					4																	5975560		2203	4300	6503	SO:0001819	synonymous_variant	389197							g.chr4:5975560T>A	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.234A>T	4.37:g.5975560T>A							p.I78I	NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN			4	324	-			78						Silent	SNP	ENST00000324058.5	37	c.234A>T																																																																																					0.667	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		4	21	0	0	0	0.009096	0	4	21				
KIAA0232	9778	broad.mit.edu	37	4	6863811	6863811	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:6863811A>G	ENST00000307659.5	+	7	2157	c.1702A>G	c.(1702-1704)Aca>Gca	p.T568A	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T568A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	568							ATP binding (GO:0005524)	p.T568A(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TGCAATATGGACAGATTCTAC	0.478																																							uc003gjr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1702-1704)ACA>GCA		hypothetical protein LOC9778							209.0	200.0	203.0					4																	6863811		1987	4156	6143	SO:0001583	missense	9778						ATP binding	g.chr4:6863811A>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1702A>G	4.37:g.6863811A>G	ENSP00000303928:p.Thr568Ala					KIAA0232_uc003gjq.3_Missense_Mutation_p.T568A	p.T568A	NM_014743	NP_055558	Q92628	K0232_HUMAN			7	2165	+			568					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.1702A>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	8.988	0.977033	0.18812	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.7	4.52	0.55395	.	0.155709	0.64402	N	0.000017	T	0.41026	0.1141	L	0.33485	1.01	0.42971	D	0.994438	B	0.06786	0.001	B	0.06405	0.002	T	0.26087	-1.0113	9	0.32370	T	0.25	-11.6518	4.9258	0.13892	0.7192:0.0:0.1445:0.1364	.	568	Q92628	K0232_HUMAN	A	568	.	ENSP00000303928:T568A	T	+	1	0	KIAA0232	6914712	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.533000	0.53561	0.986000	0.38683	0.533000	0.62120	ACA		0.478	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		20	90	0	0	0	0.008871	0	20	90				
SLC2A9	56606	broad.mit.edu	37	4	9836505	9836505	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:9836505C>A	ENST00000264784.3	-	11	1472	c.1419G>T	c.(1417-1419)caG>caT	p.Q473H	SLC2A9_ENST00000506583.1_Splice_Site_p.Q444H|SLC2A9_ENST00000309065.3_Splice_Site_p.Q444H	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	473					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.Q444H(1)|p.Q473H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCAGTCATACCTGAATGAATG	0.512																																							uc003gmc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1417-1419)CAG>CAT		solute carrier family 2, member 9 protein							48.0	43.0	45.0					4																	9836505		2203	4300	6503	SO:0001630	splice_region_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9836505C>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1419+1G>T	4.37:g.9836505C>A						SLC2A9_uc003gmd.2_Missense_Mutation_p.Q444H	p.Q473H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			11	1480	-			473			Extracellular (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.1419G>T	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591724	0.86953	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.42131	0.98;0.98;0.98	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.128398	0.53938	D	0.000051	T	0.67411	0.2890	M	0.83012	2.62	0.53005	D	0.999961	D;D	0.76494	0.999;0.999	D;D	0.76071	0.978;0.987	T	0.70691	-0.4802	9	.	.	.	.	16.3685	0.83344	0.0:1.0:0.0:0.0	.	444;473	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	H	444;473;444	ENSP00000422209:Q444H;ENSP00000264784:Q473H;ENSP00000311383:Q444H	.	Q	-	3	2	SLC2A9	9445603	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.484000	0.53201	2.451000	0.82905	0.585000	0.79938	CAG		0.512	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1		Missense_Mutation	3	17	1	0	0.004672	0.004672	0.00503511	3	17				
BOD1L1	259282	broad.mit.edu	37	4	13604728	13604728	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:13604728C>A	ENST00000040738.5	-	10	3931	c.3796G>T	c.(3796-3798)Gct>Tct	p.A1266S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1266						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A1266S(1)									TCTCCTTGAGCAACATGTTCT	0.408																																							uc003gmz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(3796-3798)GCT>TCT		biorientation of chromosomes in cell division							88.0	81.0	83.0					4																	13604728		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604728C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3796G>T	4.37:g.13604728C>A	ENSP00000040738:p.Ala1266Ser					BOD1L_uc010idr.1_Missense_Mutation_p.A603S	p.A1266S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	3913	-			1266					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3796G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029596	0.35797	.	.	ENSG00000038219	ENST00000040738	T	0.06371	3.31	5.28	-0.23	0.13090	.	0.361060	0.23870	N	0.043753	T	0.02342	0.0072	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.42649	-0.9439	10	0.08381	T	0.77	-0.8808	1.1886	0.01860	0.133:0.2669:0.1952:0.4048	.	1266	Q8NFC6	BOD1L_HUMAN	S	1266	ENSP00000040738:A1266S	ENSP00000040738:A1266S	A	-	1	0	BOD1L	13213826	0.000000	0.05858	0.017000	0.16124	0.192000	0.23643	-0.674000	0.05233	0.308000	0.22923	0.655000	0.94253	GCT		0.408	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		9	30	1	0	7.48243e-07	0.006214	1.03265e-06	9	30				
SLIT2	9353	broad.mit.edu	37	4	20543244	20543244	+	Splice_Site	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:20543244T>C	ENST00000504154.1	+	20	2395		c.e20+2		SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.?(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGATGACGGTAAGAAATACT	0.408																																							uc003gpr.1		NA																	1	Unknown(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.e20+2		slit homolog 2 precursor							83.0	79.0	80.0					4																	20543244		2203	4300	6503	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20543244T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2143+2T>C	4.37:g.20543244T>C						SLIT2_uc003gps.1_Splice_Site_p.G707_splice	p.G715_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN			20	2347	+								B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	ENST00000504154.1	37	c.2143_splice	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573876	0.45902	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3378	0.83071	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20152342	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	7.698000	0.84413	2.255000	0.74692	0.533000	0.62120	.		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Intron	10	49	0	0	0	0.000978	0	10	49				
PPARGC1A	10891	broad.mit.edu	37	4	23816059	23816059	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:23816059C>A	ENST00000264867.2	-	8	1166	c.1047G>T	c.(1045-1047)ccG>ccT	p.P349P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	349					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.P349P(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CGGATTGCTCCGGCCCTTTCT	0.537																																					Esophageal Squamous(29;694 744 13796 34866 44181)	Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1045-1047)CCG>CCT		peroxisome proliferator-activated receptor							134.0	137.0	136.0					4																	23816059		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23816059C>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1047G>T	4.37:g.23816059C>A						PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.P349P	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			8	1167	-		Breast(46;0.0503)	349					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1047G>T	CCDS3429.1																																																																																				0.537	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		21	83	1	0	1.10923e-09	0.00278	1.73474e-09	21	83				
PPARGC1A	10891	broad.mit.edu	37	4	23833288	23833288	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:23833288G>A	ENST00000264867.2	-	3	440	c.321C>T	c.(319-321)ccC>ccT	p.P107P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	107					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.P107P(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CATCAAATGAGGGCAATCCGT	0.527																																					Esophageal Squamous(29;694 744 13796 34866 44181)	Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(319-321)CCC>CCT		peroxisome proliferator-activated receptor							423.0	339.0	367.0					4																	23833288		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23833288G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.321C>T	4.37:g.23833288G>A						PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.P107P	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			3	441	-		Breast(46;0.0503)	107					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.321C>T	CCDS3429.1																																																																																				0.527	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		33	186	0	0	0	0.004878	0	33	186				
GABRA2	2555	broad.mit.edu	37	4	46305517	46305517	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:46305517G>T	ENST00000510861.1	-	8	989	c.816C>A	c.(814-816)ttC>ttA	p.F272L	GABRA2_ENST00000381620.4_Missense_Mutation_p.F272L|GABRA2_ENST00000507069.1_Missense_Mutation_p.F272L|GABRA2_ENST00000515082.1_Missense_Mutation_p.F272L|GABRA2_ENST00000356504.1_Missense_Mutation_p.F272L|GABRA2_ENST00000540012.1_Missense_Mutation_p.F217L|GABRA2_ENST00000514090.1_Missense_Mutation_p.F272L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	272					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F272L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					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)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGTTAAGCCAGAATGAAACTT	0.383																																							uc003gxc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(814-816)TTC>TTA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						125.0	122.0	123.0					4																	46305517		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46305517G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.816C>A	4.37:g.46305517G>T	ENSP00000421828:p.Phe272Leu					GABRA2_uc010igc.2_Missense_Mutation_p.F272L|GABRA2_uc011bzc.1_Missense_Mutation_p.F217L|GABRA2_uc003gxe.2_Missense_Mutation_p.F272L	p.F272L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			7	1489	-			272			Helical; (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.816C>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088829	0.76756	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.17	3.39	0.38822	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	M	0.87456	2.885	0.51767	D	0.999933	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.997;0.998;0.996	D	0.97280	0.9917	10	0.87932	D	0	.	9.396	0.38404	0.2344:0.0:0.7656:0.0	.	217;272;272	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	L	272;272;272;272;217;272;272	ENSP00000421828:F272L;ENSP00000421300:F272L;ENSP00000371033:F272L;ENSP00000348897:F272L;ENSP00000444409:F217L;ENSP00000427603:F272L;ENSP00000423840:F272L	ENSP00000348897:F272L	F	-	3	2	GABRA2	46000274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.469000	0.45110	1.289000	0.44618	0.655000	0.94253	TTC		0.383	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			12	66	1	0	1.5842e-08	0.001855	2.37548e-08	12	66				
GABRA4	2557	broad.mit.edu	37	4	46930427	46930427	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:46930427C>A	ENST00000264318.3	-	9	2462	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	494					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G494W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGTAGCCCCTATGGTATTA	0.468																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1480-1482)GGG>TGG		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						157.0	147.0	151.0					4																	46930427		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930427C>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1480G>T	4.37:g.46930427C>A	ENSP00000264318:p.Gly494Trp						p.G494W	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1619	-			494			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1480G>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868769	0.51588	.	.	ENSG00000109158	ENST00000264318	D	0.81579	-1.51	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.636969	0.16792	N	0.199359	D	0.85660	0.5748	L	0.43152	1.355	0.48185	D	0.999607	D	0.71674	0.998	P	0.62491	0.903	D	0.85815	0.1382	10	0.72032	D	0.01	.	17.2702	0.87099	0.0:1.0:0.0:0.0	.	494	P48169	GBRA4_HUMAN	W	494	ENSP00000264318:G494W	ENSP00000264318:G494W	G	-	1	0	GABRA4	46625184	1.000000	0.71417	0.974000	0.42286	0.047000	0.14425	6.427000	0.73378	2.765000	0.95021	0.650000	0.86243	GGG		0.468	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			13	51	1	0	0.000151284	0.001855	0.000181292	13	51				
KDR	3791	broad.mit.edu	37	4	55971037	55971037	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:55971037C>A	ENST00000263923.4	-	13	2055	c.1760G>T	c.(1759-1761)gGc>gTc	p.G587V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	587	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G587V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGCTGTGGGCCAAGCTTGTA	0.498			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1759-1761)GGC>GTC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						117.0	107.0	110.0					4																	55971037		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55971037C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1760G>T	4.37:g.55971037C>A	ENSP00000263923:p.Gly587Val	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.G587V|KDR_uc011bzx.1_Missense_Mutation_p.G587V	p.G587V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		13	2062	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		587			Ig-like C2-type 6.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1760G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487647	0.26686	.	.	ENSG00000128052	ENST00000263923	T	0.30448	1.53	5.86	5.0	0.66597	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.267790	0.43416	D	0.000571	T	0.32675	0.0837	L	0.58101	1.795	0.36466	D	0.866984	P;B	0.42203	0.773;0.14	B;B	0.41894	0.369;0.105	T	0.40869	-0.9540	10	0.45353	T	0.12	.	11.1271	0.48325	0.0:0.8011:0.1299:0.0689	.	587;587	P35968-2;P35968	.;VGFR2_HUMAN	V	587	ENSP00000263923:G587V	ENSP00000263923:G587V	G	-	2	0	KDR	55665794	0.182000	0.23173	0.747000	0.31113	0.393000	0.30537	1.625000	0.37029	1.441000	0.47550	0.655000	0.94253	GGC		0.498	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			7	41	1	0	5.18039e-06	0.00308	6.82593e-06	7	41				
LPHN3	23284	broad.mit.edu	37	4	62845314	62845314	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:62845314G>T	ENST00000514591.1	+	17	2964	c.2635G>T	c.(2635-2637)Gtg>Ttg	p.V879L	LPHN3_ENST00000506700.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V947L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V947L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V947L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V879L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V879L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V879L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V947L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V879L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V947L|LPHN3_ENST00000512091.2_Missense_Mutation_p.V879L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V879L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	866					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.V879L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTTCTGGATGTGATCACGTG	0.448																																							uc010ihh.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2635-2637)GTG>TTG		latrophilin 3 precursor							306.0	299.0	301.0					4																	62845314		1984	4175	6159	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845314G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2635G>T	4.37:g.62845314G>T	ENSP00000422533:p.Val879Leu					LPHN3_uc003hcq.3_Missense_Mutation_p.V879L|LPHN3_uc003hct.2_Missense_Mutation_p.V272L	p.V879L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			15	2808	+			866			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2635G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.97|16.97	3.268267|3.268267	0.59540|0.59540	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.37915	.|1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.5|5.5	5.5|5.5	0.81552|0.81552	.|GPCR, family 2-like (1);	.|0.066682	.|0.64402	.|D	.|0.000015	T|T	0.35128|0.35128	0.0921|0.0921	L|L	0.47016|0.47016	1.485|1.485	0.54753|0.54753	D|D	0.999988|0.999988	.|B;B;B	.|0.27286	.|0.174;0.174;0.144	.|B;B;B	.|0.27796	.|0.083;0.083;0.081	T|T	0.15607|0.15607	-1.0431|-1.0431	5|10	.|0.62326	.|D	.|0.03	.|.	14.9756|14.9756	0.71269|0.71269	0.0:0.0:0.8568:0.1432|0.0:0.0:0.8568:0.1432	.|.	.|879;866;879	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	F|L	336|879;879;947;947;879;879;866;879;947;947;947;879;879;879;947;947;879	.|ENSP00000423388:V879L;ENSP00000422533:V879L;ENSP00000423787:V947L;ENSP00000425033:V947L;ENSP00000424120:V879L;ENSP00000439831:V879L;ENSP00000421476:V947L;ENSP00000424030:V947L;ENSP00000421372:V947L;ENSP00000425201:V879L;ENSP00000423434:V879L;ENSP00000421627:V879L;ENSP00000420931:V947L;ENSP00000425884:V947L;ENSP00000424258:V879L	.|ENSP00000280009:V879L	C|V	+|+	2|1	0|0	LPHN3|LPHN3	62527909|62527909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.552000|6.552000	0.73914|0.73914	2.580000|2.580000	0.87095|0.87095	0.467000|0.467000	0.42956|0.42956	TGT|GTG		0.448	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			38	144	1	0	1.20271e-06	0.00874	1.64736e-06	38	144				
LPHN3	23284	broad.mit.edu	37	4	62849169	62849169	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:62849169G>T	ENST00000514591.1	+	18	3209	c.2880G>T	c.(2878-2880)ctG>ctT	p.L960L	LPHN3_ENST00000506700.1_Silent_p.L960L|LPHN3_ENST00000506746.1_Silent_p.L1028L|LPHN3_ENST00000508693.1_Silent_p.L1028L|LPHN3_ENST00000511324.1_Silent_p.L1028L|LPHN3_ENST00000506720.1_Silent_p.L1028L|LPHN3_ENST00000514157.1_Silent_p.L960L|LPHN3_ENST00000545650.1_Silent_p.L960L|LPHN3_ENST00000504896.1_Silent_p.L960L|LPHN3_ENST00000507625.1_Silent_p.L1028L|LPHN3_ENST00000508946.1_Silent_p.L960L|LPHN3_ENST00000509896.1_Silent_p.L1028L|LPHN3_ENST00000512091.2_Silent_p.L960L|LPHN3_ENST00000507164.1_Silent_p.L1028L|LPHN3_ENST00000514996.1_Silent_p.L960L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	947					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.L960L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGATGTTCCTGGAGGGGGTGC	0.453																																							uc010ihh.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2878-2880)CTG>CTT		latrophilin 3 precursor							138.0	132.0	134.0					4																	62849169		1951	4162	6113	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62849169G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2880G>T	4.37:g.62849169G>T						LPHN3_uc003hcq.3_Silent_p.L960L|LPHN3_uc003hct.2_Silent_p.L353L	p.L960L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			16	3053	+			947			Helical; Name=3; (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.2880G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020752	0.19433	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.47	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.132	0.42685	0.0754:0.1382:0.7865:0.0	.	.	.	.	X	418	.	.	G	+	1	0	LPHN3	62531764	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.797000	0.47877	0.621000	0.30232	0.585000	0.79938	GGA		0.453	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			9	40	1	0	0.000442599	0.006214	0.000512261	9	40				
TECRL	253017	broad.mit.edu	37	4	65155456	65155456	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:65155456A>T	ENST00000381210.3	-	9	914	c.804T>A	c.(802-804)aaT>aaA	p.N268K	TECRL_ENST00000507440.1_Missense_Mutation_p.N268K	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	268					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.N268K(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACAACATTACATTGATGAAAT	0.284																																							uc003hcv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(802-804)AAT>AAA		steroid 5 alpha-reductase 2-like 2							65.0	63.0	64.0					4																	65155456		2203	4297	6500	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65155456A>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.804T>A	4.37:g.65155456A>T	ENSP00000370607:p.Asn268Lys						p.N268K	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			9	913	-			268						Missense_Mutation	SNP	ENST00000381210.3	37	c.804T>A	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733469	0.69189	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.28666	1.6;1.6	5.68	2.05	0.26809	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.049685	0.85682	D	0.000000	T	0.41880	0.1178	L	0.51422	1.61	0.35864	D	0.827719	D	0.65815	0.995	D	0.67103	0.949	T	0.49322	-0.8952	10	0.87932	D	0	-24.6899	6.5356	0.22352	0.7274:0.0:0.2726:0.0	.	268	Q5HYJ1	TECRL_HUMAN	K	268	ENSP00000426043:N268K;ENSP00000370607:N268K	ENSP00000370607:N268K	N	-	3	2	TECRL	64838051	0.989000	0.36119	0.974000	0.42286	0.962000	0.63368	0.110000	0.15437	0.450000	0.26774	0.528000	0.53228	AAT		0.284	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		4	18	0	0	0	0.000602	0	4	18				
EPHA5	2044	broad.mit.edu	37	4	66270133	66270133	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:66270133G>T	ENST00000273854.3	-	8	2349	c.1749C>A	c.(1747-1749)gtC>gtA	p.V583V	EPHA5_ENST00000511294.1_Silent_p.V584V|EPHA5_ENST00000432638.2_Silent_p.V420V|EPHA5_ENST00000354839.4_Silent_p.V583V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	583					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.V583V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCAACAAAATGACTCCCACTG	0.473										TSP Lung(17;0.13)																													uc003hcy.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1747-1749)GTC>GTA		ephrin receptor EphA5 isoform a precursor							145.0	119.0	128.0					4																	66270133		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66270133G>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1749C>A	4.37:g.66270133G>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.V515V|EPHA5_uc003hcz.2_Silent_p.V583V|EPHA5_uc011cah.1_Silent_p.V584V|EPHA5_uc011cai.1_Silent_p.V584V|EPHA5_uc003hda.2_Silent_p.V584V	p.V583V	NM_004439	NP_004430	P54756	EPHA5_HUMAN			8	1942	-			583			Helical; (Potential).		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1749C>A	CCDS3513.1																																																																																				0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		10	45	1	0	0.000673444	0.008291	0.000757755	10	45				
TMPRSS11F	389208	broad.mit.edu	37	4	68934442	68934442	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:68934442C>G	ENST00000356291.2	-	7	708	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.E217Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CATGGCCATTCCCCTTCCATA	0.522																																							uc003hdt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(649-651)GAA>CAA		transmembrane protease, serine 11F							116.0	100.0	105.0					4																	68934442		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68934442C>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.649G>C	4.37:g.68934442C>G	ENSP00000348639:p.Glu217Gln					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.E217Q	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			7	698	-			217			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.649G>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724294	0.68959	.	.	ENSG00000198092	ENST00000356291	D	0.93547	-3.24	5.73	5.73	0.89815	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000020	D	0.93226	0.7842	N	0.16233	0.39	0.32641	N	0.520749	D	0.71674	0.998	D	0.75484	0.986	D	0.93915	0.7200	10	0.49607	T	0.09	.	15.3842	0.74684	0.0:1.0:0.0:0.0	.	217	Q6ZWK6	TM11F_HUMAN	Q	217	ENSP00000348639:E217Q	ENSP00000348639:E217Q	E	-	1	0	TMPRSS11F	68617037	0.982000	0.34865	0.988000	0.46212	0.887000	0.51463	3.118000	0.50414	2.713000	0.92767	0.655000	0.94253	GAA		0.522	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		17	60	0	0	0	0.006122	0	17	60				
UGT2B11	10720	broad.mit.edu	37	4	70071210	70071210	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:70071210T>G	ENST00000446444.1	-	4	1086	c.1078A>C	c.(1078-1080)Aat>Cat	p.N360H	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	360					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.N360H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGAAGGTCATTCTGGGGTATC	0.378																																							uc003heh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1078-1080)AAT>CAT		UDP glucuronosyltransferase 2 family,							107.0	106.0	106.0					4																	70071210		2203	4297	6500	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70071210T>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1078A>C	4.37:g.70071210T>G	ENSP00000387683:p.Asn360His					uc003hei.1_Intron	p.N360H	NM_001073	NP_001064	O75310	UDB11_HUMAN			4	1087	-			360					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1078A>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	15.86	2.959024	0.53400	.	.	ENSG00000213759	ENST00000446444	T	0.64618	-0.11	2.02	2.02	0.26589	.	0.000000	0.85682	U	0.000000	T	0.80681	0.4669	M	0.93283	3.4	0.26491	N	0.974948	D	0.89917	1.0	D	0.83275	0.996	T	0.70557	-0.4839	10	0.87932	D	0	.	7.6744	0.28478	0.0:0.0:0.0:1.0	.	360	O75310	UDB11_HUMAN	H	360	ENSP00000387683:N360H	ENSP00000387683:N360H	N	-	1	0	UGT2B11	70105799	1.000000	0.71417	0.792000	0.32020	0.214000	0.24535	6.469000	0.73555	0.931000	0.37242	0.155000	0.16302	AAT		0.378	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		7	69	0	0	0	0.001984	0	7	69				
UGT2B11	10720	broad.mit.edu	37	4	70071213	70071213	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:70071213G>T	ENST00000446444.1	-	4	1083	c.1075C>A	c.(1075-1077)Cag>Aag	p.Q359K	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	359					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.Q359K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGTCATTCTGGGGTATCCAC	0.373																																							uc003heh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1075-1077)CAG>AAG		UDP glucuronosyltransferase 2 family,							113.0	112.0	112.0					4																	70071213		2203	4297	6500	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70071213G>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1075C>A	4.37:g.70071213G>T	ENSP00000387683:p.Gln359Lys					uc003hei.1_Intron	p.Q359K	NM_001073	NP_001064	O75310	UDB11_HUMAN			4	1084	-			359					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1075C>A	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	17.17	3.320911	0.60634	.	.	ENSG00000213759	ENST00000446444	T	0.74526	-0.85	2.02	2.02	0.26589	.	0.000000	0.64402	U	0.000003	D	0.88829	0.6543	H	0.97186	3.955	0.27672	N	0.946729	D	0.89917	1.0	D	0.79784	0.993	T	0.81081	-0.1094	10	0.87932	D	0	.	9.7006	0.40184	0.0:0.0:1.0:0.0	.	359	O75310	UDB11_HUMAN	K	359	ENSP00000387683:Q359K	ENSP00000387683:Q359K	Q	-	1	0	UGT2B11	70105802	1.000000	0.71417	0.682000	0.30024	0.205000	0.24178	6.146000	0.71777	1.127000	0.42034	0.184000	0.17185	CAG		0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		8	69	1	0	0.00307968	0.00308	0.0033563	8	69				
CSN2	1447	broad.mit.edu	37	4	70823494	70823494	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:70823494G>A	ENST00000353151.3	-	5	184	c.173C>T	c.(172-174)tCt>tTt	p.S58F		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.S58F(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TGGCTGGAAAGAGGGGTAGAT	0.418																																							uc003hes.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(172-174)TCT>TTT		casein beta precursor							92.0	94.0	94.0					4																	70823494		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823494G>A	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.173C>T	4.37:g.70823494G>A	ENSP00000341030:p.Ser58Phe					CSN2_uc003het.3_Missense_Mutation_p.S57F	p.S58F	NM_001891	NP_001882	P05814	CASB_HUMAN			5	186	-			58					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.173C>T	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	2.134	-0.398406	0.04865	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.46	0.719	0.18208	.	1.378180	0.04691	N	0.414147	T	0.14657	0.0354	N	0.04805	-0.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21211	-1.0252	9	0.02654	T	1	-15.1267	3.6315	0.08133	0.575:0.2067:0.2183:0.0	.	58	P05814	CASB_HUMAN	F	58	.	ENSP00000341030:S58F	S	-	2	0	CSN2	70858083	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.093000	0.15086	0.128000	0.18479	-0.312000	0.09012	TCT		0.418	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			12	43	0	0	0	0.001855	0	12	43				
MUC7	4589	broad.mit.edu	37	4	71346651	71346651	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:71346651A>G	ENST00000304887.5	+	3	380	c.190A>G	c.(190-192)Aaa>Gaa	p.K64E	MUC7_ENST00000413702.1_Missense_Mutation_p.K64E|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.K64E	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	64					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.K64E(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAGTCCTATAAATGTCTGCA	0.443																																							uc011cat.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(190-192)AAA>GAA		mucin 7, secreted precursor							168.0	164.0	165.0					4																	71346651		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346651A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.190A>G	4.37:g.71346651A>G	ENSP00000302021:p.Lys64Glu					MUC7_uc011cau.1_Missense_Mutation_p.K64E|MUC7_uc003hfj.2_Missense_Mutation_p.K64E|uc011cav.1_RNA	p.K64E	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	478	+			64					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.190A>G	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450467	0.26074	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.54479	0.58;0.57;0.58;0.58	2.8	-2.45	0.06481	.	.	.	.	.	T	0.28167	0.0695	N	0.19112	0.55	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.18713	-1.0328	9	0.16896	T	0.51	16.1727	3.8489	0.08946	0.5355:0.0:0.2509:0.2136	.	64	Q8TAX7	MUC7_HUMAN	E	64	ENSP00000407422:K64E;ENSP00000427594:K64E;ENSP00000400585:K64E;ENSP00000302021:K64E	ENSP00000302021:K64E	K	+	1	0	MUC7	71381240	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.667000	0.00846	-0.572000	0.06006	-0.242000	0.12053	AAA		0.443	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		17	88	0	0	0	0.00499	0	17	88				
MUC7	4589	broad.mit.edu	37	4	71346954	71346954	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:71346954A>G	ENST00000304887.5	+	3	683	c.493A>G	c.(493-495)Acc>Gcc	p.T165A	MUC7_ENST00000413702.1_Missense_Mutation_p.T165A|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.T165A	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	165	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T165A(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCCACAAGACACCACAGCTGC	0.527																																							uc011cat.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(493-495)ACC>GCC		mucin 7, secreted precursor							298.0	256.0	270.0					4																	71346954		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346954A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.493A>G	4.37:g.71346954A>G	ENSP00000302021:p.Thr165Ala					MUC7_uc011cau.1_Missense_Mutation_p.T165A|MUC7_uc003hfj.2_Missense_Mutation_p.T165A|uc011cav.1_RNA	p.T165A	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	781	+			165			1.|Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.493A>G	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	A	6.403	0.442531	0.12164	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.56275	0.47;0.47;0.47	2.06	-0.481	0.12082	.	.	.	.	.	T	0.27765	0.0683	N	0.17082	0.46	0.09310	N	1	P	0.36144	0.539	B	0.30716	0.119	T	0.11591	-1.0581	8	.	.	.	-1.5353	5.5578	0.17125	0.7042:0.0:0.2958:0.0	.	165	Q8TAX7	MUC7_HUMAN	A	165	ENSP00000407422:T165A;ENSP00000400585:T165A;ENSP00000302021:T165A	.	T	+	1	0	MUC7	71381543	0.000000	0.05858	0.010000	0.14722	0.032000	0.12392	-2.061000	0.01391	-0.095000	0.12351	-0.274000	0.10170	ACC		0.527	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		19	61	0	0	0	0.008871	0	19	61				
SHROOM3	57619	broad.mit.edu	37	4	77675466	77675466	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:77675466C>T	ENST00000296043.6	+	7	4783	c.3830C>T	c.(3829-3831)tCa>tTa	p.S1277L	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1277					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.S1276L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGTTCCAGGTCACTCAGTTGT	0.512																																							uc011cbx.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3829-3831)TCA>TTA		shroom family member 3 protein							179.0	174.0	175.0					4																	77675466		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675466C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3830C>T	4.37:g.77675466C>T	ENSP00000296043:p.Ser1277Leu					SHROOM3_uc003hkg.2_Missense_Mutation_p.S1055L	p.S1277L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	4783	+			1277					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.3830C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	0.196	-1.049078	0.01981	.	.	ENSG00000138771	ENST00000296043	T	0.19938	2.11	4.86	3.0	0.34707	.	1.455720	0.04442	N	0.371078	T	0.14442	0.0349	N	0.24115	0.695	0.29212	N	0.874543	B	0.06786	0.001	B	0.04013	0.001	T	0.26087	-1.0113	10	0.18276	T	0.48	-2.0335	5.965	0.19320	0.1551:0.6784:0.0:0.1666	.	1277	Q8TF72	SHRM3_HUMAN	L	1277	ENSP00000296043:S1277L	ENSP00000296043:S1277L	S	+	2	0	SHROOM3	77894490	0.139000	0.22563	0.605000	0.28930	0.013000	0.08279	0.436000	0.21526	1.409000	0.46915	0.650000	0.86243	TCA		0.512	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	165	0	0	0	0.009096	0	4	165				
SOWAHB	345079	broad.mit.edu	37	4	77817745	77817745	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:77817745C>T	ENST00000334306.2	-	1	1257	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	420								p.E420K(1)									AGCCCCTCTTCAGAAGCCCCC	0.602																																							uc003hki.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1258-1260)GAA>AAA		ankyrin repeat domain 56							53.0	63.0	60.0					4																	77817745		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817745C>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1258G>A	4.37:g.77817745C>T	ENSP00000334879:p.Glu420Lys						p.E420K	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1258	-			420					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1258G>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227656	0.58668	.	.	ENSG00000186212	ENST00000334306	T	0.06068	3.35	5.05	4.18	0.49190	.	0.616712	0.13796	U	0.362143	T	0.10981	0.0268	L	0.29908	0.895	0.09310	N	0.999998	D	0.56968	0.978	P	0.55508	0.777	T	0.18461	-1.0336	10	0.46703	T	0.11	-7.3759	11.0894	0.48106	0.0:0.8132:0.1868:0.0	.	420	A6NEL2	ANR56_HUMAN	K	420	ENSP00000334879:E420K	ENSP00000334879:E420K	E	-	1	0	ANKRD56	78036769	0.055000	0.20627	0.496000	0.27539	0.006000	0.05464	1.367000	0.34204	1.293000	0.44690	0.655000	0.94253	GAA		0.602	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		13	75	0	0	0	0.003163	0	13	75				
PAQR3	152559	broad.mit.edu	37	4	79847698	79847698	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:79847698C>G	ENST00000512733.1	-	4	892	c.679G>C	c.(679-681)Gga>Cga	p.G227R	PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.G227R	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	227					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G227R(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GCACCAATTCCTCCATTGAGC	0.378																																							uc003hlp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GGA>CGA		progestin and adipoQ receptor family member III							123.0	116.0	118.0					4																	79847698		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79847698C>G	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.679G>C	4.37:g.79847698C>G	ENSP00000421981:p.Gly227Arg					PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_RNA|PAQR3_uc003hlq.1_Missense_Mutation_p.G109R	p.G227R	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN			4	883	-			227			Lumenal (Potential).		A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.679G>C	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599518	0.66332	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.30981	1.51;1.51	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65352	-0.6189	10	0.62326	D	0.03	-11.6669	19.6339	0.95722	0.0:1.0:0.0:0.0	.	227	Q6TCH7	PAQR3_HUMAN	R	227	ENSP00000421981:G227R;ENSP00000370019:G227R	ENSP00000344203:G227R	G	-	1	0	PAQR3	80066722	1.000000	0.71417	0.996000	0.52242	0.013000	0.08279	7.792000	0.85828	2.642000	0.89623	0.462000	0.41574	GGA		0.378	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		10	54	0	0	0	0.000978	0	10	54				
GK2	2712	broad.mit.edu	37	4	80327728	80327728	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:80327728G>T	ENST00000358842.3	-	1	1644	c.1627C>A	c.(1627-1629)Cta>Ata	p.L543I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	46					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.L543I(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCTCCAATTAGCATTACCATG	0.408																																							uc003hlu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1627-1629)CTA>ATA		glycerol kinase 2							82.0	80.0	81.0					4																	80327728		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80327728G>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1627C>A	4.37:g.80327728G>T	ENSP00000351706:p.Leu543Ile						p.L543I	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	1645	-			543					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1627C>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585983	0.46110	.	.	ENSG00000196475	ENST00000358842	T	0.15139	2.45	4.11	2.8	0.32819	.	0.080630	0.52532	D	0.000074	T	0.19927	0.0479	L	0.42245	1.32	0.34445	D	0.699994	P	0.35401	0.499	P	0.45506	0.483	T	0.24048	-1.0171	10	0.87932	D	0	-18.8139	7.1599	0.25659	0.8703:0.0:0.1297:0.0	.	543	Q14410	GLPK2_HUMAN	I	543	ENSP00000351706:L543I	ENSP00000351706:L543I	L	-	1	2	GK2	80546752	1.000000	0.71417	0.993000	0.49108	0.899000	0.52679	3.594000	0.54008	0.800000	0.34041	-0.225000	0.12378	CTA		0.408	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		6	43	1	0	8.12818e-05	0.001984	9.82943e-05	6	43				
RASGEF1B	153020	broad.mit.edu	37	4	82366732	82366732	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:82366732T>A	ENST00000264400.2	-	8	1027	c.876A>T	c.(874-876)gtA>gtT	p.V292V	RASGEF1B_ENST00000335927.7_Silent_p.V250V|RASGEF1B_ENST00000509081.1_Silent_p.V291V	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	292	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.V292V(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACTCCCGAGCTACGTCAATGA	0.403																																							uc003hmi.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(874-876)GTA>GTT		RasGEF domain family, member 1B							135.0	139.0	138.0					4																	82366732		2203	4300	6503	SO:0001819	synonymous_variant	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82366732T>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.876A>T	4.37:g.82366732T>A						RASGEF1B_uc003hmj.1_Silent_p.V291V|RASGEF1B_uc010ijq.1_Silent_p.V250V	p.V292V	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			8	1020	-			292			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	ENST00000264400.2	37	c.876A>T	CCDS34022.1																																																																																				0.403	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		21	71	0	0	0	0.001882	0	21	71				
PTPN13	5783	broad.mit.edu	37	4	87693953	87693953	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:87693953G>T	ENST00000411767.2	+	32	5254	c.5191G>T	c.(5191-5193)Gat>Tat	p.D1731Y	PTPN13_ENST00000427191.2_Missense_Mutation_p.D1712Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.D1736Y|PTPN13_ENST00000316707.6_Missense_Mutation_p.D1540Y|PTPN13_ENST00000436978.1_Missense_Mutation_p.D1736Y			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1731					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.D1736Y(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTACCACCGGATATGGCTCC	0.383																																							uc003hpz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(5191-5193)GAT>TAT		protein tyrosine phosphatase, non-receptor type							134.0	129.0	131.0					4																	87693953		1838	4081	5919	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87693953G>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5191G>T	4.37:g.87693953G>T	ENSP00000407249:p.Asp1731Tyr					PTPN13_uc003hpy.2_Missense_Mutation_p.D1736Y|PTPN13_uc003hqa.2_Missense_Mutation_p.D1712Y|PTPN13_uc003hqb.2_Missense_Mutation_p.D1540Y|PTPN13_uc003hqc.1_Missense_Mutation_p.D97Y	p.D1731Y	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	32	5671	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1731					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.5191G>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188779	0.57909	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.54675	0.56;0.61;0.68;0.57;0.61	5.78	4.94	0.65067	.	0.245759	0.28130	N	0.016488	T	0.62159	0.2405	L	0.43923	1.385	0.09310	N	1	P;D;D;D	0.62365	0.946;0.991;0.984;0.991	P;P;P;P	0.62298	0.77;0.9;0.798;0.9	T	0.57464	-0.7807	10	0.62326	D	0.03	.	13.7134	0.62682	0.0745:0.0:0.9255:0.0	.	1540;1712;1731;1736	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Y	1712;1736;1540;1731;1736;1680	ENSP00000408368:D1712Y;ENSP00000394794:D1736Y;ENSP00000322675:D1540Y;ENSP00000407249:D1731Y;ENSP00000426626:D1736Y	ENSP00000322675:D1540Y	D	+	1	0	PTPN13	87912977	0.788000	0.28762	0.007000	0.13788	0.720000	0.41350	3.390000	0.52523	1.441000	0.47550	0.563000	0.77884	GAT		0.383	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			16	60	1	0	1.99824e-07	0.00499	2.83847e-07	16	60				
SLC10A6	345274	broad.mit.edu	37	4	87770178	87770178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:87770178C>A	ENST00000273905.6	-	1	238	c.91G>T	c.(91-93)Gag>Tag	p.E31*	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	31					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)	p.E31*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AAAACGAGCTCCAGGTTTCCA	0.557																																							uc003hqd.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(91-93)GAG>TAG		sodium-dependent organic anion transporter							83.0	65.0	71.0					4																	87770178		2203	4300	6503	SO:0001587	stop_gained	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87770178C>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.91G>T	4.37:g.87770178C>A	ENSP00000273905:p.Glu31*						p.E31*	NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	239	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	31			Helical; (Potential).		Q70EX7	Nonsense_Mutation	SNP	ENST00000273905.6	37	c.91G>T	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726218	0.69074	.	.	ENSG00000145283	ENST00000273905	.	.	.	5.85	0.731	0.18277	.	0.970258	0.08519	N	0.933807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-28.5083	1.3505	0.02171	0.1388:0.3676:0.1361:0.3575	.	.	.	.	X	31	.	ENSP00000273905:E31X	E	-	1	0	SLC10A6	87989202	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.023000	0.12456	0.038000	0.15604	0.655000	0.94253	GAG		0.557	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		9	38	1	0	1.12685e-05	0.004482	1.44938e-05	9	38				
DMP1	1758	broad.mit.edu	37	4	88583789	88583789	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:88583789A>T	ENST00000339673.6	+	6	958	c.859A>T	c.(859-861)Aca>Tca	p.T287S	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.T271S	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	287					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.T287S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGACAACAACACAATGGAAGA	0.483																																							uc003hqv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(859-861)ACA>TCA		dentin matrix acidic phosphoprotein 1 isoform 1							73.0	74.0	74.0					4																	88583789		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583789A>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.859A>T	4.37:g.88583789A>T	ENSP00000340935:p.Thr287Ser					DMP1_uc003hqw.2_Missense_Mutation_p.T271S	p.T287S	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	963	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	287					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.859A>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	A	6.159	0.397607	0.11638	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.42900	0.96;0.96	4.44	1.65	0.23941	.	0.814807	0.10949	N	0.616302	T	0.36963	0.0986	N	0.16656	0.425	0.09310	N	1	D;D	0.55605	0.966;0.972	P;P	0.61940	0.833;0.896	T	0.16188	-1.0411	10	0.06757	T	0.87	0.2258	7.9095	0.29782	0.5379:0.0:0.0:0.4621	.	271;287	Q13316-2;Q13316	.;DMP1_HUMAN	S	287;271	ENSP00000340935:T287S;ENSP00000282479:T271S	ENSP00000282479:T271S	T	+	1	0	DMP1	88802813	0.124000	0.22315	0.006000	0.13384	0.007000	0.05969	1.514000	0.35834	0.511000	0.28236	0.455000	0.32223	ACA		0.483	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			3	19	0	0	0	0.004672	0	3	19				
ABCG2	9429	broad.mit.edu	37	4	89052318	89052318	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:89052318G>A	ENST00000237612.3	-	5	971	c.426C>T	c.(424-426)ttC>ttT	p.F142F	ABCG2_ENST00000515655.1_Silent_p.F142F	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	142	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.F142F(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GAGCTGCTGAGAACTGTAAGT	0.398																																							uc003hrg.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(424-426)TTC>TTT		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						213.0	192.0	199.0					4																	89052318		2203	4300	6503	SO:0001819	synonymous_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052318G>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.426C>T	4.37:g.89052318G>A						ABCG2_uc003hrh.2_Silent_p.F142F|ABCG2_uc003hrf.2_Silent_p.F12F	p.F142F	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	5	919	-		Hepatocellular(203;0.114)	142			ABC transporter.|Cytoplasmic (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	c.426C>T	CCDS3628.1																																																																																				0.398	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		29	83	0	0	0	0.007291	0	29	83				
ZGRF1	55345	broad.mit.edu	37	4	113539234	113539234	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:113539234T>A	ENST00000505019.1	-	6	2089	c.1964A>T	c.(1963-1965)tAc>tTc	p.Y655F	C4orf21_ENST00000309071.5_Missense_Mutation_p.Y655F|C4orf21_ENST00000445203.2_Missense_Mutation_p.Y624F	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		655						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Y655F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTATCTCCGTATACAGCATC	0.318																																							uc003iau.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1963-1965)TAC>TTC		prematurely terminated mRNA decay factor-like							104.0	111.0	109.0					4																	113539234		2202	4299	6501	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113539234T>A																												ENST00000505019.1:c.1964A>T	4.37:g.113539234T>A	ENSP00000424737:p.Tyr655Phe					C4orf21_uc003iaw.2_Missense_Mutation_p.Y655F	p.Y655F	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	2175	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.1964A>T		.	.	.	.	.	.	.	.	.	.	T	6.552	0.470071	0.12461	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.81996	-1.56;1.94;1.52	5.47	-5.22	0.02806	.	2.092970	0.01779	N	0.031663	T	0.72228	0.3434	L	0.54323	1.7	0.09310	N	1	B;B	0.18310	0.016;0.027	B;B	0.19666	0.017;0.026	T	0.52335	-0.8589	10	0.11794	T	0.64	1.3079	0.5886	0.00724	0.2364:0.2406:0.2944:0.2287	.	655;655	Q86YA3;G5EA02	CD021_HUMAN;.	F	655;655;624	ENSP00000424737:Y655F;ENSP00000309095:Y655F;ENSP00000390505:Y624F	ENSP00000309095:Y655F	Y	-	2	0	C4orf21	113758683	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.555000	0.02170	-0.401000	0.07644	0.455000	0.32223	TAC		0.318	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			13	47	0	0	0	0.00245	0	13	47				
FAT4	79633	broad.mit.edu	37	4	126412051	126412051	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:126412051T>A	ENST00000394329.3	+	17	14087	c.14074T>A	c.(14074-14076)Tgc>Agc	p.C4692S	FAT4_ENST00000335110.5_Missense_Mutation_p.C2933S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4692					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C4635S(1)|p.C4692S(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACTCAGCATGCCCAACTCC	0.502																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14074-14076)TGC>AGC		FAT tumor suppressor homolog 4 precursor							126.0	132.0	130.0					4																	126412051		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412051T>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14074T>A	4.37:g.126412051T>A	ENSP00000377862:p.Cys4692Ser					FAT4_uc011cgp.1_Missense_Mutation_p.C2933S|FAT4_uc003ifi.1_Missense_Mutation_p.C2169S	p.C4692S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14074	+			4692			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14074T>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.441809	0.00180	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74002	-0.62;-0.8	4.2	1.5	0.22942	.	0.197973	0.24226	U	0.040390	T	0.55955	0.1953	L	0.36672	1.1	0.48087	D	0.999589	P;B;P	0.36535	0.557;0.421;0.557	B;B;B	0.28011	0.085;0.039;0.058	T	0.48779	-0.9005	10	0.18276	T	0.48	.	10.2792	0.43530	0.0:0.0:0.3156:0.6844	.	2933;4692;4691	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	4692;2933	ENSP00000377862:C4692S;ENSP00000335169:C2933S	ENSP00000335169:C2933S	C	+	1	0	FAT4	126631501	0.996000	0.38824	0.169000	0.22859	0.031000	0.12232	2.587000	0.46128	0.630000	0.30394	0.459000	0.35465	TGC		0.502	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		15	52	0	0	0	0.00499	0	15	52				
PCDH10	57575	broad.mit.edu	37	4	134072090	134072090	+	Silent	SNP	A	A	C	rs575638492		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:134072090A>C	ENST00000264360.5	+	1	1621	c.795A>C	c.(793-795)ccA>ccC	p.P265P	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	265	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)	p.P265P(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTCTCCCCCAGGCACTCTCG	0.627																																							uc003iha.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(793-795)CCA>CCC		protocadherin 10 isoform 1 precursor							88.0	87.0	88.0					4																	134072090		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072090A>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.795A>C	4.37:g.134072090A>C						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.P265P	p.P265P	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1621	+			265			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.795A>C	CCDS34063.1																																																																																				0.627	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	45	0	0	0	0.004482	0	9	45				
SMAD1	4086	broad.mit.edu	37	4	146463845	146463845	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:146463845G>A	ENST00000515385.1	+	4	1312	c.770G>A	c.(769-771)aGa>aAa	p.R257K	SMAD1_ENST00000302085.4_Missense_Mutation_p.R257K|SMAD1_ENST00000394092.2_Missense_Mutation_p.R257K			Q15797	SMAD1_HUMAN	SMAD family member 1	257					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.R257K(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GAAATCAACAGAGGAGGTAAA	0.453																																					Pancreas(182;1287 2092 10326 35158 50562)	Pancreas(182;1287 2092 10326 35158 50562)	uc003ikc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(769-771)AGA>AAA		Sma- and Mad-related protein 1							62.0	65.0	64.0					4																	146463845		2203	4300	6503	SO:0001583	missense	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146463845G>A	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.770G>A	4.37:g.146463845G>A	ENSP00000426568:p.Arg257Lys					SMAD1_uc003ikd.2_Missense_Mutation_p.R257K|SMAD1_uc010iov.2_Missense_Mutation_p.R257K|SMAD1_uc011cic.1_Intron	p.R257K	NM_005900	NP_005891	Q15797	SMAD1_HUMAN			4	1186	+	all_hematologic(180;0.151)		257					A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	c.770G>A	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399745	0.42512	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.95588	-3.75;-3.75;-3.75	5.64	5.64	0.86602	SMAD/FHA domain (1);	0.083148	0.85682	D	0.000000	D	0.89918	0.6854	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84349	0.0531	10	0.28530	T	0.3	.	19.7154	0.96115	0.0:0.0:1.0:0.0	.	257	Q15797	SMAD1_HUMAN	K	257	ENSP00000305769:R257K;ENSP00000377652:R257K;ENSP00000426568:R257K	ENSP00000305769:R257K	R	+	2	0	SMAD1	146683295	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	8.998000	0.93550	2.664000	0.90586	0.655000	0.94253	AGA		0.453	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		4	26	0	0	0	0.000602	0	4	26				
TTC29	83894	broad.mit.edu	37	4	147824814	147824814	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:147824814C>A	ENST00000325106.4	-	6	694	c.468G>T	c.(466-468)aaG>aaT	p.K156N	TTC29_ENST00000398886.4_Missense_Mutation_p.K182N|TTC29_ENST00000513335.1_Missense_Mutation_p.K182N	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	156								p.K156N(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCCTTACCCACTTGTCTTCAG	0.403																																							uc003ikw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(466-468)AAG>AAT		tetratricopeptide repeat domain 29							78.0	74.0	75.0					4																	147824814		1878	4102	5980	SO:0001583	missense	83894						binding	g.chr4:147824814C>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.468G>T	4.37:g.147824814C>A	ENSP00000316740:p.Lys156Asn					TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.K182N|TTC29_uc010ipd.1_Missense_Mutation_p.K156N	p.K156N	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			6	695	-	all_hematologic(180;0.151)		156					A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.468G>T	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333554	0.41297	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.62	2.85	0.33270	.	0.496506	0.22269	N	0.062282	T	0.20740	0.0499	L	0.56769	1.78	0.35581	D	0.806266	B;D;B	0.53462	0.172;0.96;0.172	B;P;B	0.51229	0.034;0.663;0.034	T	0.20974	-1.0259	10	0.21540	T	0.41	-15.9486	6.0153	0.19598	0.0:0.6132:0.0:0.3868	.	156;182;156	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	N	182;182;156;156;156	ENSP00000423505:K182N;ENSP00000381861:K182N;ENSP00000316740:K156N;ENSP00000425778:K156N	ENSP00000316740:K156N	K	-	3	2	TTC29	148044264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.533000	0.36040	1.312000	0.45043	0.650000	0.86243	AAG		0.403	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		3	14	1	0	2.56e-06	0.009096	3.4196e-06	3	14				
MAB21L2	10586	broad.mit.edu	37	4	151504190	151504190	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:151504190C>A	ENST00000317605.4	+	1	1114	c.9C>A	c.(7-9)gcC>gcA	p.A3A	LRBA_ENST00000510413.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	3					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.A3A(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACATGATCGCCGCTCAGGCCA	0.597																																							uc003ilw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(7-9)GCC>GCA		mab-21-like protein 2							34.0	36.0	35.0					4																	151504190		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504190C>A	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.9C>A	4.37:g.151504190C>A						LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	p.A3A	NM_006439	NP_006430	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1114	+	all_hematologic(180;0.151)		3					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.9C>A	CCDS3774.1																																																																																				0.597	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		8	16	1	0	5.18039e-06	0.00308	6.82593e-06	8	16				
LRBA	987	broad.mit.edu	37	4	151849739	151849739	+	Missense_Mutation	SNP	C	C	G	rs61746090		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:151849739C>G	ENST00000357115.3	-	4	721	c.478G>C	c.(478-480)Gct>Cct	p.A160P	LRBA_ENST00000510413.1_Missense_Mutation_p.A160P|LRBA_ENST00000535741.1_Missense_Mutation_p.A160P|LRBA_ENST00000507224.1_Missense_Mutation_p.A160P	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	160						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A160P(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTATAGCTAGCCAGCACTCCC	0.338																																							uc010ipj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(478-480)GCT>CCT		LPS-responsive vesicle trafficking, beach and							56.0	57.0	56.0					4																	151849739		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151849739C>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.478G>C	4.37:g.151849739C>G	ENSP00000349629:p.Ala160Pro					LRBA_uc003ilu.3_Missense_Mutation_p.A160P|LRBA_uc010ipk.1_Missense_Mutation_p.A79P	p.A160P	NM_006726	NP_006717	P50851	LRBA_HUMAN			4	952	-	all_hematologic(180;0.151)		160					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.478G>C	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072898	0.93950	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.07	5.07	0.68467	.	0.169439	0.38605	N	0.001631	T	0.77955	0.4208	M	0.74881	2.28	0.80722	D	1	P;P;D	0.61080	0.948;0.897;0.989	P;P;P	0.54460	0.58;0.51;0.753	T	0.81621	-0.0850	10	0.72032	D	0.01	.	18.4912	0.90848	0.0:1.0:0.0:0.0	.	160;160;160	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	P	160	ENSP00000446299:A160P;ENSP00000421552:A160P;ENSP00000349629:A160P;ENSP00000422180:A160P	ENSP00000349629:A160P	A	-	1	0	LRBA	152069189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.921000	0.70028	2.368000	0.80403	0.655000	0.94253	GCT		0.338	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			5	24	0	0	0	0.000602	0	5	24				
DCHS2	54798	broad.mit.edu	37	4	155156835	155156835	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:155156835A>C	ENST00000357232.4	-	25	7603	c.7604T>G	c.(7603-7605)tTc>tGc	p.F2535C		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2535					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F2535C(1)		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)		GCTGCTGGCGAACACTGCCAA	0.388																																							uc003inw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(7603-7605)TTC>TGC		dachsous 2 isoform 1							61.0	63.0	62.0					4																	155156835		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156835A>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7604T>G	4.37:g.155156835A>C	ENSP00000349768:p.Phe2535Cys						p.F2535C	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7604	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2535					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7604T>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	3.255	-0.152345	0.06585	.	.	ENSG00000197410	ENST00000357232	T	0.53423	0.62	5.53	2.81	0.32909	.	0.785035	0.11400	N	0.567926	T	0.24586	0.0596	N	0.08118	0	0.20074	N	0.999931	P	0.44281	0.831	B	0.34722	0.188	T	0.04078	-1.0979	10	0.51188	T	0.08	.	9.5082	0.39060	0.2353:0.0:0.7647:0.0	.	2535	Q6V1P9	PCD23_HUMAN	C	2535	ENSP00000349768:F2535C	ENSP00000349768:F2535C	F	-	2	0	DCHS2	155376285	0.315000	0.24571	0.000000	0.03702	0.001000	0.01503	3.128000	0.50492	0.263000	0.21812	-0.456000	0.05471	TTC		0.388	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		9	34	0	0	0	0.004482	0	9	34				
DCHS2	54798	broad.mit.edu	37	4	155256183	155256183	+	Missense_Mutation	SNP	G	G	T	rs199574901		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:155256183G>T	ENST00000357232.4	-	8	1052	c.1053C>A	c.(1051-1053)gaC>gaA	p.D351E	DCHS2_ENST00000339452.1_Missense_Mutation_p.D850E|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	351	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D850D(1)|p.D850E(1)|p.D351D(1)|p.D351E(1)		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)		GCCCACCACCGTCTTGAGCAG	0.428																																							uc003inw.2		NA																	4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(2)|endometrium(2)	ovary(3)|pancreas(1)	4						c.(1051-1053)GAC>GAA		dachsous 2 isoform 1							103.0	105.0	104.0					4																	155256183		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155256183G>T	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.1053C>A	4.37:g.155256183G>T	ENSP00000349768:p.Asp351Glu					DCHS2_uc003inx.2_Missense_Mutation_p.D850E	p.D351E	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	8	1053	-	all_hematologic(180;0.208)	Renal(120;0.0854)	351			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1053C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132636	0.56828	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.73047	-0.71;-0.29	6.17	-4.11	0.03928	Cadherin (3);	0.000000	0.64402	D	0.000001	D	0.82715	0.5097	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84336	0.0524	10	0.87932	D	0	.	14.4298	0.67240	0.476:0.0:0.524:0.0	.	850;351	E9PC11;Q6V1P9	.;PCD23_HUMAN	E	351;850;850	ENSP00000349768:D351E;ENSP00000345062:D850E	ENSP00000345062:D850E	D	-	3	2	DCHS2	155475633	0.241000	0.23857	0.975000	0.42487	0.237000	0.25408	-0.186000	0.09670	-0.601000	0.05783	-0.793000	0.03317	GAC		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	41	1	0	0.00829132	0.008291	0.00888966	7	41				
ETFDH	2110	broad.mit.edu	37	4	159601639	159601639	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:159601639T>C	ENST00000511912.1	+	2	387	c.55T>C	c.(55-57)Tta>Cta	p.L19L	ETFDH_ENST00000307738.5_Intron	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	19					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)	p.L19L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CTTTCATGCCTTAAAAATTAA	0.323																																							uc003iqb.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(55-57)TTA>CTA		electron-transferring-flavoprotein dehydrogenase							80.0	75.0	76.0					4																	159601639		2203	4300	6503	SO:0001819	synonymous_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159601639T>C	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.55T>C	4.37:g.159601639T>C						ETFDH_uc011cjg.1_Intron|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_5'Flank|ETFDH_uc010iqs.2_5'Flank	p.L19L	NM_004453	NP_004444	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	2	387	+	all_hematologic(180;0.24)	Renal(120;0.0458)	19					B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	c.55T>C	CCDS3800.1																																																																																				0.323	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			11	46	0	0	0	0.000978	0	11	46				
FNIP2	57600	broad.mit.edu	37	4	159780333	159780333	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:159780333A>T	ENST00000264433.6	+	9	1057	c.982A>T	c.(982-984)Aat>Tat	p.N328Y	FNIP2_ENST00000379346.3_Missense_Mutation_p.N351Y	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	328					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.N328Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGCACAAAGGAATTTCCAGGA	0.393																																							uc003iqe.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(982-984)AAT>TAT		folliculin interacting protein 2							47.0	47.0	47.0					4																	159780333		1837	4085	5922	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159780333A>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.982A>T	4.37:g.159780333A>T	ENSP00000264433:p.Asn328Tyr						p.N328Y	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	9	1165	+	all_hematologic(180;0.24)		328					Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.982A>T	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175550	0.57692	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346;ENST00000504715	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.33	1.58	0.23477	.	.	.	.	.	T	0.41143	0.1146	L	0.51422	1.61	0.28362	N	0.920403	P	0.50443	0.935	P	0.58873	0.847	T	0.24119	-1.0169	8	.	.	.	.	8.7248	0.34463	0.6978:0.0:0.3022:0.0	.	328	Q9P278	FNIP2_HUMAN	Y	328;351;351;193	ENSP00000264433:N328Y;ENSP00000421488:N351Y;ENSP00000368651:N351Y;ENSP00000420841:N193Y	.	N	+	1	0	FNIP2	159999783	0.206000	0.23470	0.094000	0.20943	0.964000	0.63967	0.737000	0.26144	0.045000	0.15804	0.533000	0.62120	AAT		0.393	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		4	27	0	0	0	0.000602	0	4	27				
RAPGEF2	9693	broad.mit.edu	37	4	160264503	160264503	+	Silent	SNP	C	C	T	rs188622665	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:160264503C>T	ENST00000264431.4	+	16	3137	c.2718C>T	c.(2716-2718)caC>caT	p.H906H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	906	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.H894H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAATTCGTCACGTTGGCCGAA	0.453													C|||	9	0.00179712	0.0	0.0	5008	,	,		20409	0.0089		0.0	False		,,,				2504	0.0						uc003iqg.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(2716-2718)CAC>CAT		Rap guanine nucleotide exchange factor 2		C		0,3858		0,0,1929	116.0	113.0	114.0		2718	-4.7	0.9	4		114	1,8281		0,1,4140	no	coding-synonymous	RAPGEF2	NM_014247.2		0,1,6069	TT,TC,CC		0.0121,0.0,0.0082		906/1500	160264503	1,12139	1929	4141	6070	SO:0001819	synonymous_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160264503C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2718C>T	4.37:g.160264503C>T							p.H906H	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	16	3028	+	all_hematologic(180;0.24)		906			Ras-GEF.		D3DP27	Silent	SNP	ENST00000264431.4	37	c.2718C>T	CCDS43277.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	9.147	1.015271	0.19355	0.0	1.21E-4	ENSG00000109756	ENST00000502485	.	.	.	5.73	-4.74	0.03249	.	.	.	.	.	T	0.42765	0.1217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47699	-0.9097	4	.	.	.	.	8.5736	0.33585	0.0931:0.3811:0.0:0.5259	.	.	.	.	C	20	.	.	R	+	1	0	RAPGEF2	160483953	0.005000	0.15991	0.898000	0.35279	0.961000	0.63080	-1.099000	0.03343	-1.150000	0.02840	-0.424000	0.05967	CGT		0.453	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		13	52	0	0	0	0.001855	0	13	52				
NPY1R	4886	broad.mit.edu	37	4	164246890	164246890	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:164246890C>A	ENST00000296533.2	-	3	1251	c.720G>T	c.(718-720)agG>agT	p.R240S	NPY1R_ENST00000509586.1_5'UTR	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	240					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R240S(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTTGTTTCTCCTTTTTAGGC	0.343																																							uc003iqm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(718-720)AGG>AGT		neuropeptide Y receptor Y1							72.0	67.0	69.0					4																	164246890		2202	4298	6500	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246890C>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.720G>T	4.37:g.164246890C>A	ENSP00000354652:p.Arg240Ser					NPY1R_uc011cjj.1_5'UTR	p.R240S	NM_000909	NP_000900	P25929	NPY1R_HUMAN			3	986	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	240			Cytoplasmic (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.720G>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745246	0.49151	.	.	ENSG00000164128	ENST00000296533;ENST00000512819	T;T	0.40756	1.02;1.02	5.84	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.119212	0.53938	D	0.000055	T	0.40171	0.1106	L	0.60067	1.865	0.80722	D	1	P	0.37781	0.608	B	0.41666	0.363	T	0.28299	-1.0048	10	0.37606	T	0.19	.	6.7443	0.23453	0.0:0.689:0.0:0.311	.	240	P25929	NPY1R_HUMAN	S	240;62	ENSP00000354652:R240S;ENSP00000421618:R62S	ENSP00000354652:R240S	R	-	3	2	NPY1R	164466340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.867000	0.39499	1.408000	0.46895	0.655000	0.94253	AGG		0.343	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			6	21	1	0	0.000274275	0.004482	0.000319476	6	21				
NPY5R	4889	broad.mit.edu	37	4	164272461	164272461	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:164272461G>A	ENST00000515560.1	+	4	2558	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	NPY5R_ENST00000338566.3_Missense_Mutation_p.D346N|NPY5R_ENST00000506953.1_Missense_Mutation_p.D346N			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	346					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.D346N(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGAAAATTCAGATGTTCATGA	0.373																																					Melanoma(139;1287 1774 9781 19750 25599)	Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|skin(1)	7						c.(1036-1038)GAT>AAT		neuropeptide Y receptor Y5							72.0	72.0	72.0					4																	164272461		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272461G>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1036G>A	4.37:g.164272461G>A	ENSP00000423917:p.Asp346Asn						p.D346N	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	1218	+	all_hematologic(180;0.166)	Prostate(90;0.109)	346			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1036G>A	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430529	0.25726	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.71579	-0.58;-0.58;-0.58	4.49	0.5	0.16919	GPCR, rhodopsin-like superfamily (1);	0.343185	0.20358	N	0.093908	T	0.50292	0.1607	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.27297	-1.0078	10	0.26408	T	0.33	.	6.085	0.19962	0.2434:0.1343:0.6224:0.0	.	346	Q15761	NPY5R_HUMAN	N	346	ENSP00000339377:D346N;ENSP00000423917:D346N;ENSP00000423474:D346N	ENSP00000339377:D346N	D	+	1	0	NPY5R	164491911	1.000000	0.71417	0.001000	0.08648	0.800000	0.45204	2.017000	0.40981	-0.058000	0.13177	0.467000	0.42956	GAT		0.373	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		11	41	0	0	0	0.000978	0	11	41				
HPGD	3248	broad.mit.edu	37	4	175416704	175416704	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:175416704C>A	ENST00000296522.6	-	5	939	c.493G>T	c.(493-495)Gca>Tca	p.A165S	HPGD_ENST00000510901.1_Missense_Mutation_p.A44S|HPGD_ENST00000422112.2_Missense_Mutation_p.A97S|HPGD_ENST00000541923.1_Missense_Mutation_p.A44S|HPGD_ENST00000296521.7_Missense_Mutation_p.A165S|HPGD_ENST00000542498.1_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	165					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)	p.A165S(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CTCACCGCTGCTGAGCGTGTG	0.408																																							uc003itu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(493-495)GCA>TCA		hydroxyprostaglandin dehydrogenase 15-(NAD)	NADH(DB00157)						94.0	84.0	88.0					4																	175416704		2203	4300	6503	SO:0001583	missense	3248				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	g.chr4:175416704C>A		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.493G>T	4.37:g.175416704C>A	ENSP00000296522:p.Ala165Ser					HPGD_uc003itt.2_Missense_Mutation_p.A32S|HPGD_uc003itv.2_Missense_Mutation_p.A165S|HPGD_uc011ckf.1_Missense_Mutation_p.A44S|HPGD_uc010irp.2_Missense_Mutation_p.A44S|HPGD_uc010irq.2_Intron|HPGD_uc011ckg.1_Missense_Mutation_p.A97S|HPGD_uc011ckh.1_Missense_Mutation_p.A44S|HPGD_uc003itw.2_Missense_Mutation_p.A165S	p.A165S	NM_000860	NP_000851	P15428	PGDH_HUMAN		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	5	683	-		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	165					B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	ENST00000296522.6	37	c.493G>T	CCDS3821.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516282	0.44763	.	.	ENSG00000164120	ENST00000296522;ENST00000296521;ENST00000510901;ENST00000422112;ENST00000541923;ENST00000506910;ENST00000514584	D;D;D;T;D;D;D	0.87729	-2.29;-2.29;-2.29;-1.39;-2.29;-2.29;-2.29	5.77	4.04	0.47022	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.144361	0.64402	D	0.000010	T	0.80149	0.4570	L	0.28400	0.85	0.58432	D	0.999998	B;B;B;B;B	0.24823	0.062;0.069;0.069;0.009;0.112	B;B;B;B;B	0.36418	0.022;0.224;0.224;0.188;0.224	T	0.74064	-0.3785	10	0.39692	T	0.17	.	4.9584	0.14054	0.1419:0.5836:0.0:0.2745	.	97;165;165;165;44	E7EV11;Q12998;B4DV57;P15428;B4DU74	.;.;.;PGDH_HUMAN;.	S	165;165;44;97;44;44;44	ENSP00000296522:A165S;ENSP00000296521:A165S;ENSP00000422418:A44S;ENSP00000398720:A97S;ENSP00000438017:A44S;ENSP00000423066:A44S;ENSP00000423110:A44S	ENSP00000296521:A165S	A	-	1	0	HPGD	175653279	0.842000	0.29525	1.000000	0.80357	0.931000	0.56810	0.453000	0.21811	1.445000	0.47624	0.467000	0.42956	GCA		0.408	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3			9	39	1	0	0.00448238	0.004482	0.00486678	9	39				
VEGFC	7424	broad.mit.edu	37	4	177648957	177648957	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:177648957G>T	ENST00000280193.2	-	3	942	c.527C>A	c.(526-528)aCc>aAc	p.T176N	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	176					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.T176N(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCTCGTGCTGGTGTTCATGCA	0.512																																							uc003ius.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(526-528)ACC>AAC		vascular endothelial growth factor C							105.0	108.0	107.0					4																	177648957		2007	4177	6184	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177648957G>T	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.527C>A	4.37:g.177648957G>T	ENSP00000280193:p.Thr176Asn						p.T176N	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	3	957	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	176					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.527C>A	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825304	0.71143	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.72	5.72	0.89469	Platelet-derived growth factor (PDGF) (3);	0.154217	0.64402	D	0.000018	T	0.73497	0.3594	M	0.89095	3.005	0.50039	D	0.999842	P	0.52061	0.95	P	0.49683	0.619	T	0.78595	-0.2143	9	0.72032	D	0.01	-9.5595	11.2702	0.49133	0.1101:0.0:0.8899:0.0	.	176	P49767	VEGFC_HUMAN	N	176	.	ENSP00000280193:T176N	T	-	2	0	VEGFC	177885951	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.706000	0.68362	2.857000	0.98124	0.650000	0.86243	ACC		0.512	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		8	20	1	0	0.000274275	0.004482	0.000319476	8	20				
F11	2160	broad.mit.edu	37	4	187192858	187192858	+	Missense_Mutation	SNP	A	A	C	rs281875243		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:187192858A>C	ENST00000403665.2	+	3	503	c.151A>C	c.(151-153)Act>Cct	p.T51P	F11_ENST00000492972.2_Missense_Mutation_p.T51P|F11_ENST00000264692.4_Missense_Mutation_p.T51P	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	51	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.		T -> I (in FA11D; dbSNP:rs281875252). {ECO:0000269|PubMed:18005151}.|T -> P (in FA11D; dbSNP:rs281875243). {ECO:0000269|PubMed:18005151, ECO:0000269|PubMed:22159456}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.T51P(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GGTAGTCTGCACTTACCACCC	0.488																																							uc003iza.1		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM080239	F11	M		c.(151-153)ACT>CCT		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						190.0	154.0	166.0					4																	187192858		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187192858A>C	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.151A>C	4.37:g.187192858A>C	ENSP00000384957:p.Thr51Pro					F11_uc003iyz.2_Missense_Mutation_p.T51P	p.T51P	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	3	484	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	51			Apple 1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.151A>C	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281555	0.59758	.	.	ENSG00000088926	ENST00000403665;ENST00000264692;ENST00000492972	D;D;D	0.89552	-2.53;-2.53;-2.44	6.17	6.17	0.99709	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.000000	0.85682	D	0.000000	D	0.95398	0.8506	M	0.88906	2.99	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.95952	0.8955	10	0.87932	D	0	.	16.4837	0.84171	1.0:0.0:0.0:0.0	.	51	P03951	FA11_HUMAN	P	51	ENSP00000384957:T51P;ENSP00000264692:T51P;ENSP00000424479:T51P	ENSP00000264692:T51P	T	+	1	0	F11	187429852	1.000000	0.71417	0.995000	0.50966	0.013000	0.08279	6.269000	0.72558	2.371000	0.80710	0.533000	0.62120	ACT		0.488	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			11	59	0	0	0	0.000978	0	11	59				
MTNR1A	4543	broad.mit.edu	37	4	187455454	187455454	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:187455454C>T	ENST00000307161.5	-	2	643	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	148					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)	p.V148M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ATGAGGAGCACGTAGCAGAGG	0.572																																							uc003izd.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(442-444)GTG>ATG		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						174.0	121.0	139.0					4																	187455454		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455454C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.442G>A	4.37:g.187455454C>T	ENSP00000302811:p.Val148Met						p.V148M	NM_005958	NP_005949	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	460	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	148			Helical; Name=4; (Potential).		A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.442G>A	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809974	0.31961	.	.	ENSG00000168412	ENST00000307161	T	0.73469	-0.75	4.96	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.059353	0.64402	D	0.000003	D	0.83394	0.5245	M	0.76727	2.345	0.36742	D	0.882261	D	0.76494	0.999	D	0.69824	0.966	D	0.87265	0.2282	10	0.87932	D	0	-13.57	10.6425	0.45600	0.0:0.7927:0.1323:0.075	.	148	P48039	MTR1A_HUMAN	M	148	ENSP00000302811:V148M	ENSP00000302811:V148M	V	-	1	0	MTNR1A	187692448	0.995000	0.38212	0.285000	0.24819	0.006000	0.05464	3.253000	0.51469	2.295000	0.77249	0.655000	0.94253	GTG		0.572	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			9	37	0	0	0	0.008291	0	9	37				
FAT1	2195	broad.mit.edu	37	4	187542468	187542468	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:187542468C>G	ENST00000441802.2	-	10	5481	c.5272G>C	c.(5272-5274)Gag>Cag	p.E1758Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1758	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1761Q(1)|p.E1758Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGTCATTCTCATCCTGCAAG	0.428										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(5272-5274)GAG>CAG		FAT tumor suppressor 1 precursor							113.0	107.0	109.0					4																	187542468		1938	4143	6081	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542468C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5272G>C	4.37:g.187542468C>G	ENSP00000406229:p.Glu1758Gln	HNSCC(5;0.00058)					p.E1758Q	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	5460	-			1758			Extracellular (Potential).|Cadherin 15.			Missense_Mutation	SNP	ENST00000441802.2	37	c.5272G>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612362	0.46631	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01725	4.67	5.5	5.5	0.81552	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.03348	0.0097	L	0.48986	1.54	0.80722	D	1	D	0.54772	0.968	P	0.47299	0.543	T	0.63589	-0.6603	10	0.22109	T	0.4	.	13.8102	0.63260	0.0:0.9275:0.0:0.0725	.	1758	Q14517	FAT1_HUMAN	Q	1758;1760	ENSP00000406229:E1758Q	ENSP00000260147:E1760Q	E	-	1	0	FAT1	187779462	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.926000	0.70070	2.861000	0.98227	0.655000	0.94253	GAG		0.428	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	52	0	0	0	0.004482	0	8	52				
PLEKHG4B	153478	broad.mit.edu	37	5	155007	155007	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:155007C>G	ENST00000283426.6	+	6	992	c.942C>G	c.(940-942)tcC>tcG	p.S314S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	314							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S314S(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGTGAGCTCCCTGAAGGCCG	0.562																																							uc003jak.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(940-942)TCC>TCG		pleckstrin homology domain containing, family G							97.0	84.0	89.0					5																	155007		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:155007C>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.942C>G	5.37:g.155007C>G							p.S314S	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	6	992	+			314						Silent	SNP	ENST00000283426.6	37	c.942C>G	CCDS34124.1																																																																																				0.562	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		9	24	0	0	0	0.004482	0	9	24				
EXOC3	11336	broad.mit.edu	37	5	453846	453846	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:453846G>A	ENST00000512944.1	+	4	915	c.726G>A	c.(724-726)aaG>aaA	p.K242K	EXOC3_ENST00000315013.5_Silent_p.K242K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	253					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.K242K(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGAGGCCCAAGAATTGGAAGG	0.483																																							uc003jba.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(724-726)AAG>AAA		Sec6 protein							83.0	82.0	82.0					5																	453846		1911	4129	6040	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:453846G>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.726G>A	5.37:g.453846G>A							p.K242K	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	854	+		Ovarian(839;0.0563)	253					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.726G>A	CCDS54830.1																																																																																				0.483	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		4	54	0	0	0	0.009096	0	4	54				
TRIP13	9319	broad.mit.edu	37	5	895012	895012	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:895012G>A	ENST00000166345.3	+	2	559	c.203G>A	c.(202-204)aGa>aAa	p.R68K	BRD9_ENST00000467963.1_5'Flank|BRD9_ENST00000435709.2_5'Flank|BRD9_ENST00000483173.1_5'Flank	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	68					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.R68K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TTTTTGACCAGAAATGTGCAG	0.363																																							uc003jbr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(202-204)AGA>AAA		thyroid hormone receptor interactor 13							95.0	92.0	93.0					5																	895012		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:895012G>A	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.203G>A	5.37:g.895012G>A	ENSP00000166345:p.Arg68Lys					BRD9_uc003jbn.2_5'Flank|BRD9_uc011cmb.1_5'Flank|BRD9_uc003jbo.2_5'Flank|BRD9_uc003jbq.2_5'Flank|BRD9_uc011cmc.1_5'Flank|TRIP13_uc010ite.1_Missense_Mutation_p.R68K	p.R68K	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		2	313	+			68					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.203G>A	CCDS3858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.172|6.172	0.399887|0.399887	0.11696|0.11696	.|.	.|.	ENSG00000071539|ENSG00000071539	ENST00000513435|ENST00000166345;ENST00000354240	.|T	.|0.28454	.|1.61	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.141639	.|0.64402	.|D	.|0.000003	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.02802|0.02802	-0.49|-0.49	0.30897|0.30897	N|N	0.729642|0.729642	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.18808|0.18808	-1.0325|-1.0325	5|10	.|0.06757	.|T	.|0.87	-17.2695|-17.2695	8.9342|8.9342	0.35688|0.35688	0.1663:0.0:0.8337:0.0|0.1663:0.0:0.8337:0.0	.|.	.|68	.|Q15645	.|PCH2_HUMAN	K|K	64|68	.|ENSP00000166345:R68K	.|ENSP00000166345:R68K	E|R	+|+	1|2	0|0	TRIP13|TRIP13	948012|948012	1.000000|1.000000	0.71417|0.71417	0.847000|0.847000	0.33407|0.33407	0.937000|0.937000	0.57800|0.57800	2.205000|2.205000	0.42770|0.42770	2.348000|2.348000	0.79779|0.79779	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.363	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		11	58	0	0	0	0.000978	0	11	58				
TAS2R1	50834	broad.mit.edu	37	5	9630090	9630090	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:9630090G>T	ENST00000382492.2	-	1	373	c.55C>A	c.(55-57)Ctt>Att	p.L19I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	19					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.L19I(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAAATCCCAAGAAGAAATTGT	0.343																																							uc003jem.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(55-57)CTT>ATT		taste receptor T2R1							51.0	54.0	53.0					5																	9630090		2191	4294	6485	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9630090G>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.55C>A	5.37:g.9630090G>T	ENSP00000371932:p.Leu19Ile						p.L19I	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	374	-			19			Helical; Name=1; (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.55C>A	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	0.772	-0.765337	0.02996	.	.	ENSG00000169777	ENST00000382492	T	0.39056	1.1	5.32	-10.6	0.00265	.	1.800440	0.03109	N	0.162215	T	0.25269	0.0614	L	0.37750	1.13	0.09310	N	1	B	0.18461	0.028	B	0.18263	0.021	T	0.15983	-1.0418	9	.	.	.	.	3.1681	0.06542	0.4888:0.2183:0.2023:0.0906	.	19	Q9NYW7	TA2R1_HUMAN	I	19	ENSP00000371932:L19I	.	L	-	1	0	TAS2R1	9683090	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.004000	0.00315	-5.488000	0.00013	-1.862000	0.00560	CTT		0.343	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			5	53	1	0	0.000602214	0.000602	0.000682885	5	53				
CTNND2	1501	broad.mit.edu	37	5	11098738	11098738	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:11098738C>A	ENST00000304623.8	-	15	2775	c.2586G>T	c.(2584-2586)acG>acT	p.T862T	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.T771T|CTNND2_ENST00000458100.2_Silent_p.T429T|CTNND2_ENST00000503622.1_Silent_p.T525T|CTNND2_ENST00000359640.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	862					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T862T(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCCCTTCCAGCGTGTCTGGAT	0.517																																							uc003jfa.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2584-2586)ACG>ACT		catenin (cadherin-associated protein), delta 2							101.0	92.0	95.0					5																	11098738		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11098738C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2586G>T	5.37:g.11098738C>A						CTNND2_uc010itt.2_Silent_p.T771T|CTNND2_uc011cmy.1_Silent_p.T525T|CTNND2_uc011cmz.1_Silent_p.T429T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.T429T	p.T862T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			15	2731	-			862			ARM 7.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2586G>T	CCDS3881.1																																																																																				0.517	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		11	42	1	0	0.000151284	0.001855	0.000181292	11	42				
DNAH5	1767	broad.mit.edu	37	5	13776646	13776646	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:13776646C>G	ENST00000265104.4	-	55	9379	c.9275G>C	c.(9274-9276)gGg>gCg	p.G3092A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3092	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G3092A(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAATTTCTCCCCCACTGGCGA	0.498									Kartagener syndrome																														uc003jfd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9274-9276)GGG>GCG		dynein, axonemal, heavy chain 5							97.0	90.0	93.0					5																	13776646		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13776646C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9275G>C	5.37:g.13776646C>G	ENSP00000265104:p.Gly3092Ala						p.G3092A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			55	9317	-	Lung NSC(4;0.00476)		3092			AAA 4 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9275G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283675	0.95489	.	.	ENSG00000039139	ENST00000265104	T	0.59638	0.25	5.97	5.97	0.96955	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	H	0.97051	3.93	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.89096	0.3486	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	3092	Q8TE73	DYH5_HUMAN	A	3092	ENSP00000265104:G3092A	ENSP00000265104:G3092A	G	-	2	0	DNAH5	13829646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.684000	0.84104	2.828000	0.97474	0.655000	0.94253	GGG		0.498	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		25	63	0	0	0	0.00333	0	25	63				
MARCH11	441061	broad.mit.edu	37	5	16091001	16091001	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:16091001T>G	ENST00000332432.8	-	3	1082	c.883A>C	c.(883-885)Ata>Cta	p.I295L	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	295					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.I295L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GTCTTACCTATGCACACTAGA	0.438																																							uc003jfo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(883-885)ATA>CTA		membrane-associated ring finger (C3HC4) 11							90.0	88.0	88.0					5																	16091001		2010	4168	6178	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16091001T>G	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.883A>C	5.37:g.16091001T>G	ENSP00000333181:p.Ile295Leu					MARCH11_uc010itw.1_Missense_Mutation_p.I51L	p.I295L	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			3	1096	-			295			Helical; (Potential).		A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.883A>C	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351120	0.82132	.	.	ENSG00000183654	ENST00000332432	T	0.60672	0.17	5.54	5.54	0.83059	.	0.097992	0.64402	D	0.000002	T	0.64023	0.2561	L	0.49350	1.555	0.52501	D	0.999958	P	0.50066	0.931	P	0.52031	0.688	T	0.65886	-0.6059	10	0.52906	T	0.07	.	15.6674	0.77242	0.0:0.0:0.0:1.0	.	295	A6NNE9	MARHB_HUMAN	L	295	ENSP00000333181:I295L	ENSP00000333181:I295L	I	-	1	0	MARCH11	16144001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.995000	0.57001	2.116000	0.64780	0.533000	0.62120	ATA		0.438	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		9	20	0	0	0	0.006214	0	9	20				
FAM134B	54463	broad.mit.edu	37	5	16565879	16565879	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:16565879T>A	ENST00000306320.9	-	3	537	c.451A>T	c.(451-453)Agt>Tgt	p.S151C		NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	151					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S151C(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TACCTTTCACTGAGGCTTCTC	0.438																																							uc003jfs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(451-453)AGT>TGT		hypothetical protein LOC54463 isoform 1							56.0	57.0	57.0					5																	16565879		1874	4098	5972	SO:0001583	missense	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16565879T>A	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.451A>T	5.37:g.16565879T>A	ENSP00000304642:p.Ser151Cys						p.S151C	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN			3	489	-			151					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	c.451A>T	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.603608	0.46423	.	.	ENSG00000154153	ENST00000306320	T	0.45276	0.9	4.98	4.98	0.66077	.	0.617302	0.17013	N	0.190437	T	0.39462	0.1079	N	0.24115	0.695	0.30641	N	0.756441	D	0.56287	0.975	P	0.51055	0.657	T	0.37663	-0.9696	10	0.46703	T	0.11	-15.6779	12.1873	0.54247	0.0:0.0:0.0:1.0	.	151	Q9H6L5	F134B_HUMAN	C	151	ENSP00000304642:S151C	ENSP00000304642:S151C	S	-	1	0	FAM134B	16618879	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.697000	0.61782	1.880000	0.54463	0.460000	0.39030	AGT		0.438	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		4	18	0	0	0	0.000602	0	4	18				
BASP1	10409	broad.mit.edu	37	5	17275961	17275961	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:17275961G>T	ENST00000322611.3	+	2	896	c.636G>T	c.(634-636)gtG>gtT	p.V212V		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	212					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.V212V(1)		endometrium(1)|lung(8)	9						CCAAGCCGGTGGAGGCCCCGG	0.582																																							uc003jfx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(634-636)GTG>GTT		brain abundant, membrane attached signal protein							17.0	23.0	21.0					5																	17275961		2187	4252	6439	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275961G>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.636G>T	5.37:g.17275961G>T							p.V212V	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	815	+			212					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.636G>T	CCDS3888.1																																																																																				0.582	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			5	26	1	0	8.12818e-05	0.001984	9.82943e-05	5	26				
MTMR12	54545	broad.mit.edu	37	5	32248925	32248925	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:32248925T>A	ENST00000382142.3	-	9	1019	c.849A>T	c.(847-849)aaA>aaT	p.K283N	MTMR12_ENST00000280285.5_Missense_Mutation_p.K283N|MTMR12_ENST00000264934.5_Missense_Mutation_p.K283N	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	283	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.K283N(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CATCCTGTTCTTTGGGCAGTG	0.388																																							uc003jhq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(847-849)AAA>AAT		myotubularin related protein 12							158.0	158.0	158.0					5																	32248925		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32248925T>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.849A>T	5.37:g.32248925T>A	ENSP00000371577:p.Lys283Asn					MTMR12_uc010iuk.2_Missense_Mutation_p.K283N|MTMR12_uc010iul.2_Missense_Mutation_p.K283N	p.K283N	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			9	1019	-			283			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.849A>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238089	0.58886	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.89810	-2.57;-2.57;-2.57	5.6	4.44	0.53790	Myotubularin phosphatase domain (1);	0.109105	0.64402	D	0.000012	D	0.88381	0.6421	L	0.47716	1.5	0.47276	D	0.999372	D;D;D	0.58268	0.977;0.982;0.961	P;P;P	0.55923	0.787;0.777;0.617	D	0.84379	0.0548	10	0.09843	T	0.71	.	11.3993	0.49860	0.0:0.0714:0.0:0.9286	.	283;283;283	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	N	283	ENSP00000280285:K283N;ENSP00000371577:K283N;ENSP00000264934:K283N	ENSP00000264934:K283N	K	-	3	2	MTMR12	32284682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.338000	0.52128	1.059000	0.40554	0.528000	0.53228	AAA		0.388	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		32	94	0	0	0	0.004878	0	32	94				
ADAMTS12	81792	broad.mit.edu	37	5	33643550	33643550	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:33643550G>T	ENST00000504830.1	-	10	1840	c.1505C>A	c.(1504-1506)tCc>tAc	p.S502Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S502Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	502	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S502Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCCTTCACGGAGCACCACAG	0.463										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1504-1506)TCC>TAC		ADAM metallopeptidase with thrombospondin type 1							140.0	139.0	139.0					5																	33643550		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33643550G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1505C>A	5.37:g.33643550G>T	ENSP00000422554:p.Ser502Tyr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.S502Y	p.S502Y	NM_030955	NP_112217	P58397	ATS12_HUMAN			10	1668	-			502			Disintegrin.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1505C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990319	0.74589	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60797	0.16;0.17	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.68593	2.085	0.80722	D	1	D;D	0.63880	0.992;0.993	P;P	0.62560	0.904;0.883	T	0.73222	-0.4051	10	0.62326	D	0.03	.	13.7909	0.63140	0.0733:0.0:0.9266:0.0	.	502;502	P58397-3;P58397	.;ATS12_HUMAN	Y	502	ENSP00000422554:S502Y;ENSP00000344847:S502Y	ENSP00000344847:S502Y	S	-	2	0	ADAMTS12	33679307	1.000000	0.71417	0.995000	0.50966	0.641000	0.38312	7.789000	0.85783	2.611000	0.88343	0.462000	0.41574	TCC		0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		12	44	1	0	1.08611e-07	0.000978	1.558e-07	12	44				
ADAMTS12	81792	broad.mit.edu	37	5	33649028	33649028	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:33649028C>A	ENST00000504830.1	-	9	1713	c.1378G>T	c.(1378-1380)Ggc>Tgc	p.G460C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G460C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	460					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G460C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GACTTCAAGCCTTTCTTTTTA	0.468										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1378-1380)GGC>TGC		ADAM metallopeptidase with thrombospondin type 1							119.0	116.0	117.0					5																	33649028		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649028C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1378G>T	5.37:g.33649028C>A	ENSP00000422554:p.Gly460Cys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.G460C	p.G460C	NM_030955	NP_112217	P58397	ATS12_HUMAN			9	1541	-			460					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1378G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643983	0.87859	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.03635	3.86;3.86	5.6	5.6	0.85130	Metallopeptidase, catalytic domain (1);	0.095714	0.64402	D	0.000001	T	0.13072	0.0317	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.76575	0.988;0.775	T	0.01235	-1.1410	10	0.56958	D	0.05	.	19.6116	0.95608	0.0:1.0:0.0:0.0	.	460;460	P58397-3;P58397	.;ATS12_HUMAN	C	460	ENSP00000422554:G460C;ENSP00000344847:G460C	ENSP00000344847:G460C	G	-	1	0	ADAMTS12	33684785	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.785000	0.62418	2.641000	0.89580	0.549000	0.68633	GGC		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		17	54	1	0	9.95505e-16	0.002299	1.75905e-15	17	54				
ADAMTS12	81792	broad.mit.edu	37	5	33649046	33649046	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:33649046C>T	ENST00000504830.1	-	9	1695	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D454N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	454	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D454N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTAGGTATGTCATCAAGACAG	0.453										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1360-1362)GAC>AAC		ADAM metallopeptidase with thrombospondin type 1							98.0	97.0	97.0					5																	33649046		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649046C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1360G>A	5.37:g.33649046C>T	ENSP00000422554:p.Asp454Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.D454N	p.D454N	NM_030955	NP_112217	P58397	ATS12_HUMAN			9	1523	-			454			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1360G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226400	0.95173	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.85484	-1.99;-1.99	5.6	5.6	0.85130	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87718	0.2571	10	0.37606	T	0.19	.	19.6116	0.95608	0.0:1.0:0.0:0.0	.	454;454	P58397-3;P58397	.;ATS12_HUMAN	N	454	ENSP00000422554:D454N;ENSP00000344847:D454N	ENSP00000344847:D454N	D	-	1	0	ADAMTS12	33684803	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	7.629000	0.83207	2.641000	0.89580	0.549000	0.68633	GAC		0.453	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		14	45	0	0	0	0.003163	0	14	45				
ADAMTS12	81792	broad.mit.edu	37	5	33751520	33751520	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:33751520C>T	ENST00000504830.1	-	3	958	c.623G>A	c.(622-624)tGt>tAt	p.C208Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C208Y|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.C208Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	208					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C208Y(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTAATCCACAGGTTGGCTC	0.438										HNSCC(64;0.19)																													uc003jia.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(622-624)TGT>TAT		ADAM metallopeptidase with thrombospondin type 1							132.0	131.0	132.0					5																	33751520		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33751520C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.623G>A	5.37:g.33751520C>T	ENSP00000422554:p.Cys208Tyr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.C208Y|ADAMTS12_uc003jib.1_Missense_Mutation_p.C208Y	p.C208Y	NM_030955	NP_112217	P58397	ATS12_HUMAN			3	786	-			208			Cysteine switch (By similarity).	Zinc; in inhibited form (By similarity).	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.623G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502197	0.64298	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.65178	-0.14;-0.14;1.54	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.69358	2.11	0.44261	D	0.997111	D;D;P	0.89917	0.999;1.0;0.868	D;D;P	0.85130	0.997;0.997;0.58	T	0.78783	-0.2069	10	0.72032	D	0.01	.	15.5694	0.76323	0.0:1.0:0.0:0.0	.	208;208;208	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	Y	208	ENSP00000422554:C208Y;ENSP00000344847:C208Y;ENSP00000421638:C208Y	ENSP00000344847:C208Y	C	-	2	0	ADAMTS12	33787277	0.996000	0.38824	0.530000	0.27963	0.742000	0.42306	4.049000	0.57397	2.758000	0.94735	0.563000	0.77884	TGT		0.438	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		16	53	0	0	0	0.00499	0	16	53				
SPEF2	79925	broad.mit.edu	37	5	35691205	35691205	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:35691205A>G	ENST00000356031.3	+	11	1745	c.1591A>G	c.(1591-1593)Ata>Gta	p.I531V	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.I531V|SPEF2_ENST00000440995.2_Missense_Mutation_p.I531V	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	531					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.I531V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAACAATTGCATACTGGGCCA	0.398																																							uc003jjo.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1591-1593)ATA>GTA		KPL2 protein isoform 1							116.0	112.0	113.0					5																	35691205		1861	4093	5954	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35691205A>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1591A>G	5.37:g.35691205A>G	ENSP00000348314:p.Ile531Val					SPEF2_uc003jjq.3_Missense_Mutation_p.I531V|SPEF2_uc003jjp.1_Missense_Mutation_p.I22V	p.I531V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1702	+	all_lung(31;7.56e-05)		531					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1591A>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204368	0.38905	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.35236	3.24;3.12;3.24;1.32	5.6	5.6	0.85130	.	0.053759	0.64402	D	0.000001	T	0.52191	0.1719	L	0.52573	1.65	0.80722	D	1	D;D;D	0.64830	0.985;0.994;0.979	D;D;P	0.67548	0.952;0.913;0.651	T	0.49523	-0.8931	10	0.44086	T	0.13	.	14.028	0.64597	1.0:0.0:0.0:0.0	.	531;531;531	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	V	531;531;531;42	ENSP00000348314:I531V;ENSP00000421593:I531V;ENSP00000412125:I531V;ENSP00000421744:I42V	ENSP00000348314:I531V	I	+	1	0	SPEF2	35726962	0.994000	0.37717	0.937000	0.37676	0.004000	0.04260	3.368000	0.52357	2.123000	0.65237	0.477000	0.44152	ATA		0.398	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		14	75	0	0	0	0.00245	0	14	75				
IL7R	3575	broad.mit.edu	37	5	35873708	35873708	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:35873708C>A	ENST00000303115.3	+	5	793	c.664C>A	c.(664-666)Cca>Aca	p.P222T	IL7R_ENST00000506850.1_Missense_Mutation_p.P222T|IL7R_ENST00000343305.4_Missense_Mutation_p.P222T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	222	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.P222T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGAATGGAGTCCAAGTTATTA	0.433			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																uc003jjs.2		NA		Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(664-666)CCA>ACA		interleukin 7 receptor precursor							101.0	96.0	98.0					5																	35873708		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35873708C>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.664C>A	5.37:g.35873708C>A	ENSP00000306157:p.Pro222Thr					IL7R_uc011coo.1_Missense_Mutation_p.P222T|IL7R_uc011cop.1_Intron	p.P222T	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		5	753	+	all_lung(31;0.00015)		222			Extracellular (Potential).|Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.664C>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808580	0.50421	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850;ENST00000505093	T;T;T;T	0.77489	-0.51;-0.51;-0.51;-1.1	5.97	5.05	0.67936	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.442058	0.25587	N	0.029657	T	0.80193	0.4578	L	0.47716	1.5	0.37108	D	0.900191	D;B	0.76494	0.999;0.423	D;B	0.63381	0.914;0.143	T	0.75761	-0.3204	10	0.12766	T	0.61	-11.2911	12.3368	0.55071	0.0:0.8307:0.1693:0.0	.	222;222	D6RGV2;P16871	.;IL7RA_HUMAN	T	222;222;222;25	ENSP00000306157:P222T;ENSP00000345819:P222T;ENSP00000421207:P222T;ENSP00000426069:P25T	ENSP00000306157:P222T	P	+	1	0	IL7R	35909465	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	1.213000	0.32407	2.820000	0.97059	0.655000	0.94253	CCA		0.433	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			22	55	1	0	6.44725e-10	0.002299	1.01374e-09	22	55				
FYB	2533	broad.mit.edu	37	5	39119135	39119135	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:39119135C>A	ENST00000351578.6	-	15	2294	c.2104G>T	c.(2104-2106)Gat>Tat	p.D702Y	FYB_ENST00000540520.1_Missense_Mutation_p.D758Y|FYB_ENST00000512982.1_Missense_Mutation_p.D748Y|FYB_ENST00000505428.1_Missense_Mutation_p.D748Y|FYB_ENST00000515010.1_Missense_Mutation_p.D702Y	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	702					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.D702Y(2)|p.D758Y(1)|p.D748Y(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATTTCACCATCATACTAAAAA	0.279																																							uc003jls.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(2104-2106)GAT>TAT		FYN binding protein (FYB-120/130) isoform 2							43.0	37.0	38.0					5																	39119135		1789	4054	5843	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39119135C>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2104G>T	5.37:g.39119135C>A	ENSP00000316460:p.Asp702Tyr					FYB_uc003jlt.2_Missense_Mutation_p.D748Y|FYB_uc003jlu.2_Missense_Mutation_p.D702Y|FYB_uc011cpl.1_Missense_Mutation_p.D758Y	p.D702Y	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		14	2171	-	all_lung(31;0.000343)		702					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.2104G>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507667	0.64410	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520	T;T;T;T;T	0.28666	1.65;1.65;1.6;1.6;1.61	5.8	5.8	0.92144	Src homology-3 domain (1);	0.185260	0.45126	D	0.000391	T	0.53610	0.1807	M	0.78049	2.395	0.48395	D	0.999643	D;D	0.76494	0.999;0.997	P;P	0.62649	0.879;0.905	T	0.56805	-0.7918	10	0.87932	D	0	-14.091	13.2846	0.60235	0.0:0.9281:0.0:0.0719	.	758;702	B4DLN2;O15117	.;FYB_HUMAN	Y	702;702;748;748;758	ENSP00000316460:D702Y;ENSP00000426346:D702Y;ENSP00000425845:D748Y;ENSP00000427114:D748Y;ENSP00000442840:D758Y	ENSP00000316460:D702Y	D	-	1	0	FYB	39154892	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.592000	0.61027	2.758000	0.94735	0.563000	0.77884	GAT		0.279	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		3	12	1	0	0.00909568	0.009096	0.00969496	3	12				
C9	735	broad.mit.edu	37	5	39306837	39306837	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:39306837G>C	ENST00000263408.4	-	9	1393	c.1298C>G	c.(1297-1299)aCc>aGc	p.T433S		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	433	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.T433S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATATTTTCTGGTTCCACCTCT	0.398																																							uc003jlv.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)ACC>AGC		complement component 9 precursor							121.0	103.0	109.0					5																	39306837		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39306837G>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1298C>G	5.37:g.39306837G>C	ENSP00000263408:p.Thr433Ser						p.T433S	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		9	1387	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	433			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1298C>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	8.420	0.846164	0.16963	.	.	ENSG00000113600	ENST00000263408	D	0.84298	-1.83	4.98	4.1	0.47936	Membrane attack complex component/perforin (MACPF) domain (3);	0.479744	0.23702	N	0.045415	T	0.79021	0.4376	L	0.54323	1.7	0.09310	N	1	B	0.25272	0.122	B	0.27796	0.083	T	0.61207	-0.7109	10	0.09590	T	0.72	-10.7096	9.9271	0.41498	0.0:0.1512:0.6924:0.1563	.	433	P02748	CO9_HUMAN	S	433	ENSP00000263408:T433S	ENSP00000263408:T433S	T	-	2	0	C9	39342594	0.173000	0.23056	0.173000	0.22940	0.717000	0.41224	1.306000	0.33505	1.281000	0.44480	0.563000	0.77884	ACC		0.398	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			4	60	0	0	0	0.000602	0	4	60				
DAB2	1601	broad.mit.edu	37	5	39393458	39393458	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:39393458G>A	ENST00000320816.6	-	3	596	c.129C>T	c.(127-129)ttC>ttT	p.F43F	DAB2_ENST00000545653.1_Silent_p.F43F|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000509337.1_Silent_p.F43F|DAB2_ENST00000339788.6_Silent_p.F43F	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	43					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.F43F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATCGCCTTTGAACCTTGCTA	0.388																																							uc003jlx.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(2)|skin(1)	3						c.(127-129)TTC>TTT		disabled homolog 2							187.0	175.0	179.0					5																	39393458		2203	4300	6503	SO:0001819	synonymous_variant	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39393458G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.129C>T	5.37:g.39393458G>A						DAB2_uc003jlw.2_Silent_p.F43F	p.F43F	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		3	660	-	all_lung(31;0.000197)		43					A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	c.129C>T	CCDS34149.1																																																																																				0.388	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		11	126	0	0	0	0.008291	0	11	126				
RPL37	6167	broad.mit.edu	37	5	40834695	40834695	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:40834695G>A	ENST00000274242.5	-	2	166	c.17C>T	c.(16-18)tCa>tTa	p.S6L	RPL37_ENST00000508493.1_Missense_Mutation_p.S6L|SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000509877.1_Missense_Mutation_p.S6L	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	6					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.S6L(1)		lung(3)|ovary(1)	4		Breast(839;0.238)				TCCAAACGATGACGTTCCCTT	0.468																																					Colon(188;1411 2035 4978 19588 31462)	Colon(188;1411 2035 4978 19588 31462)	uc003jme.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(16-18)TCA>TTA		ribosomal protein L37							62.0	60.0	60.0					5																	40834695		2203	4300	6503	SO:0001583	missense	6167				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr5:40834695G>A	L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"""L ribosomal proteins"""	10347	protein-coding gene	gene with protein product	"""60S ribosomal protein L37a"""	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.17C>T	5.37:g.40834695G>A	ENSP00000274242:p.Ser6Leu					SNORD72_uc003jmf.1_5'Flank	p.S6L	NM_000997	NP_000988	P61927	RL37_HUMAN			2	117	-		Breast(839;0.238)	6					B2R4H2|P02403|Q6IBB4|Q99883	Missense_Mutation	SNP	ENST00000274242.5	37	c.17C>T	CCDS3934.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192815	0.94960	.	.	ENSG00000145592	ENST00000274242;ENST00000509877;ENST00000508493	T	0.47528	0.84	5.62	5.62	0.85841	Ribosomal protein L37e, conserved site (1);Ribosomal protein L37ae/L37e, N-terminal (1);Ribosomal protein, zinc-binding domain (1);	.	.	.	.	T	0.53658	0.1810	.	.	.	0.80722	D	1	P	0.39157	0.662	B	0.42112	0.376	T	0.57266	-0.7841	8	0.72032	D	0.01	.	19.6571	0.95847	0.0:0.0:1.0:0.0	.	6	P61927	RL37_HUMAN	L	6	ENSP00000274242:S6L	ENSP00000274242:S6L	S	-	2	0	RPL37	40870452	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.832000	0.99423	2.651000	0.90000	0.563000	0.77884	TCA		0.468	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000211583.2	NM_000997		15	47	0	0	0	0.00499	0	15	47				
MROH2B	133558	broad.mit.edu	37	5	41032890	41032890	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:41032890C>A	ENST00000399564.4	-	24	2845	c.2395G>T	c.(2395-2397)Gct>Tct	p.A799S	MROH2B_ENST00000506092.2_Missense_Mutation_p.A354S	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	799								p.A799S(1)									ATAGGGCTAGCTAAGGAATCC	0.398																																							uc003jmj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2395-2397)GCT>TCT		HEAT repeat family member 7B2							67.0	62.0	64.0					5																	41032890		1846	4085	5931	SO:0001583	missense	133558						binding	g.chr5:41032890C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2395G>T	5.37:g.41032890C>A	ENSP00000382476:p.Ala799Ser					HEATR7B2_uc003jmi.3_Missense_Mutation_p.A354S	p.A799S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			24	2885	-			799			HEAT 9.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2395G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995354	0.74703	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05319	3.46;3.46	5.79	5.79	0.91817	.	0.233848	0.30374	N	0.009775	T	0.17959	0.0431	L	0.51422	1.61	0.37453	D	0.914897	D	0.76494	0.999	D	0.80764	0.994	T	0.09292	-1.0681	10	0.15499	T	0.54	.	15.528	0.75928	0.0:1.0:0.0:0.0	.	799	Q7Z745	HTRB2_HUMAN	S	354;504;799	ENSP00000441504:A354S;ENSP00000382476:A799S	ENSP00000296803:A504S	A	-	1	0	HEATR7B2	41068647	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	2.422000	0.44696	2.733000	0.93635	0.655000	0.94253	GCT		0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		4	10	1	0	0.00024832	0.009096	0.000292993	4	10				
ANXA2R	389289	broad.mit.edu	37	5	43040126	43040126	+	Missense_Mutation	SNP	C	C	A	rs200700991		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:43040126C>A	ENST00000314890.3	-	2	1442	c.23G>T	c.(22-24)tGt>tTt	p.C8F	AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	8								p.C8F(1)									CCGCTTCACACAGCCAAGAAA	0.547											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003jnf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(22-24)TGT>TTT		annexin II receptor							35.0	40.0	38.0					5																	43040126		2196	4296	6492	SO:0001583	missense	389289						receptor activity	g.chr5:43040126C>A	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.23G>T	5.37:g.43040126C>A	ENSP00000315915:p.Cys8Phe		OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	p.C8F	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN			1	322	-			8					Q8NHX5	Missense_Mutation	SNP	ENST00000314890.3	37	c.23G>T	CCDS34153.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813596	0.16537	.	.	ENSG00000177721	ENST00000314890	T	0.32988	1.43	3.47	-3.58	0.04597	.	.	.	.	.	T	0.16896	0.0406	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.22730	-1.0208	9	0.48119	T	0.1	.	7.3886	0.26897	0.3661:0.3036:0.3303:0.0	.	8	Q3ZCQ2	AX2R_HUMAN	F	8	ENSP00000315915:C8F	ENSP00000315915:C8F	C	-	2	0	C5orf39	43075883	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.001000	0.01465	-0.873000	0.04032	-0.834000	0.03071	TGT		0.547	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		4	55	1	0	0.000602214	0.000602	0.000682885	4	55				
MRPS30	10884	broad.mit.edu	37	5	44809482	44809482	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:44809482G>T	ENST00000507110.1	+	1	456	c.418G>T	c.(418-420)Gcg>Tcg	p.A140S	RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	140					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A140S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GCTGGACCTCGCGGCGCTGCG	0.692																																							uc003joh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(418-420)GCG>TCG		mitochondrial ribosomal protein S30							14.0	15.0	15.0					5																	44809482		2199	4290	6489	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809482G>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.418G>T	5.37:g.44809482G>T	ENSP00000424328:p.Ala140Ser					MRPS30_uc003joi.1_5'Flank	p.A140S	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			1	456	+	Lung NSC(6;8.08e-07)		140					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.418G>T	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430462	0.43122	.	.	ENSG00000112996	ENST00000507110	T	0.17854	2.25	5.03	4.15	0.48705	.	0.430197	0.27143	N	0.020723	T	0.13970	0.0338	L	0.45581	1.43	0.09310	N	1	P	0.35383	0.498	B	0.36134	0.218	T	0.15206	-1.0445	10	0.11485	T	0.65	-11.1404	9.4256	0.38578	0.0751:0.1453:0.7796:0.0	.	140	Q9NP92	RT30_HUMAN	S	140	ENSP00000424328:A140S	ENSP00000424328:A140S	A	+	1	0	MRPS30	44845239	0.039000	0.19947	0.003000	0.11579	0.085000	0.17905	2.259000	0.43259	1.459000	0.47892	-0.176000	0.13171	GCG		0.692	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		8	11	1	0	0.00307968	0.00308	0.0033563	8	11				
ISL1	3670	broad.mit.edu	37	5	50680542	50680542	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:50680542T>A	ENST00000230658.7	+	2	781	c.196T>A	c.(196-198)Tac>Aac	p.Y66N	CTD-2314G24.2_ENST00000559112.2_RNA|ISL1_ENST00000511384.1_Missense_Mutation_p.Y66N	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	66	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.Y66N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGGGAAAACCTACTGTAAAAG	0.403																																							uc003jor.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(196-198)TAC>AAC		islet-1							188.0	178.0	181.0					5																	50680542		1874	4118	5992	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50680542T>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.196T>A	5.37:g.50680542T>A	ENSP00000230658:p.Tyr66Asn					uc003joq.1_5'Flank	p.Y66N	NM_002202	NP_002193	P61371	ISL1_HUMAN			2	744	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	66			LIM zinc-binding 1.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.196T>A	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.859173	0.71834	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.92348	-3.02;-3.02	6.16	6.16	0.99307	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.98015	0.9346	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99640	1.0988	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	66	P61371	ISL1_HUMAN	N	66	ENSP00000230658:Y66N;ENSP00000422676:Y66N	ENSP00000230658:Y66N	Y	+	1	0	ISL1	50716299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	2.367000	0.80283	0.528000	0.53228	TAC		0.403	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		11	142	0	0	0	0.008291	0	11	142				
PDE4D	5144	broad.mit.edu	37	5	59284456	59284456	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:59284456C>G	ENST00000502484.2	-	3	354	c.131G>C	c.(130-132)cGc>cCc	p.R44P	PDE4D_ENST00000546160.1_Missense_Mutation_p.R44P	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R44P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGAATATTGCGACATGAAAG	0.483																																							uc003jsb.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(130-132)CGC>CCC		phosphodiesterase 4D isoform 2	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						166.0	151.0	155.0					5																	59284456		1568	3582	5150	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59284456C>G		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.131G>C	5.37:g.59284456C>G	ENSP00000423094:p.Arg44Pro					PDE4D_uc010iwj.1_Missense_Mutation_p.R44P|PDE4D_uc003jse.1_Missense_Mutation_p.R56P	p.R44P	NM_006203	NP_006194	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	3	344	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	Error:Variant_position_missing_in_Q08499_after_alignment					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000502484.2	37	c.131G>C	CCDS54859.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196251	0.78902	.	.	ENSG00000113448	ENST00000502484;ENST00000546160;ENST00000505507;ENST00000514552	T;T	0.69175	-0.38;-0.38	5.71	5.71	0.89125	.	.	.	.	.	D	0.82305	0.5008	.	.	.	0.41635	D	0.989047	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.986	T	0.80531	-0.1341	8	0.38643	T	0.18	.	19.8467	0.96710	0.0:1.0:0.0:0.0	.	44;44	D6RIG1;Q08499-11	.;.	P	44	ENSP00000423094:R44P;ENSP00000442734:R44P	ENSP00000423094:R44P	R	-	2	0	PDE4D	59320213	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	6.632000	0.74281	2.696000	0.92011	0.585000	0.79938	CGC		0.483	PDE4D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368094.3			27	42	0	0	0	0.002096	0	27	42				
RNF180	285671	broad.mit.edu	37	5	63509680	63509680	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:63509680G>A	ENST00000389100.4	+	4	599	c.527G>A	c.(526-528)gGa>gAa	p.G176E	RNF180_ENST00000296615.6_Missense_Mutation_p.G176E|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	176					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G176E(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AATGACCCTGGAAGATTAACA	0.443																																							uc003jti.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(526-528)GGA>GAA		ring finger protein 180 isoform 1							61.0	69.0	66.0					5																	63509680		2203	4300	6503	SO:0001583	missense	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63509680G>A	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.527G>A	5.37:g.63509680G>A	ENSP00000373752:p.Gly176Glu					RNF180_uc003jth.3_Missense_Mutation_p.G176E|RNF180_uc010iws.2_Intron	p.G176E	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	637	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	176			Cytoplasmic (Potential).		Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	c.527G>A	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214280	0.58452	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.51071	0.72	6.08	6.08	0.98989	.	0.156674	0.56097	D	0.000033	T	0.60637	0.2284	L	0.50333	1.59	0.80722	D	1	D;D	0.65815	0.976;0.995	P;P	0.62649	0.634;0.905	T	0.57051	-0.7877	10	0.46703	T	0.11	-17.4062	14.8376	0.70194	0.0705:0.0:0.9295:0.0	.	176;176	Q86T96;Q86T96-2	RN180_HUMAN;.	E	176	ENSP00000373752:G176E	ENSP00000296615:G176E	G	+	2	0	RNF180	63545436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.263000	0.65507	2.890000	0.99128	0.655000	0.94253	GGA		0.443	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		21	36	0	0	0	0.001882	0	21	36				
TNPO1	3842	broad.mit.edu	37	5	72171445	72171445	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:72171445C>G	ENST00000337273.5	+	8	1108	c.682C>G	c.(682-684)Ctc>Gtc	p.L228V	TNPO1_ENST00000506351.2_Missense_Mutation_p.L220V|MIR4804_ENST00000581683.1_RNA|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000523768.1_Missense_Mutation_p.L178V|TNPO1_ENST00000454282.1_Missense_Mutation_p.L178V	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	228					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.L220V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCAACAGAATCTCTTTGCATT	0.393																																							uc003kck.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.(682-684)CTC>GTC		transportin 1 isoform 1							80.0	80.0	80.0					5																	72171445		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72171445C>G	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.682C>G	5.37:g.72171445C>G	ENSP00000336712:p.Leu228Val					TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.L178V|TNPO1_uc003kch.2_Missense_Mutation_p.L220V|TNPO1_uc003kci.3_Missense_Mutation_p.L220V|TNPO1_uc003kcg.3_Missense_Mutation_p.L220V	p.L228V	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	8	829	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	228			HEAT 3.		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.682C>G	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862612	0.51482	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.84	3.97	0.46021	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83151	0.5192	M	0.86573	2.825	0.80722	D	1	D;P	0.54047	0.964;0.627	P;B	0.55391	0.775;0.236	D	0.84916	0.0851	10	0.87932	D	0	-7.6362	9.7213	0.40304	0.0:0.8404:0.0:0.1596	.	178;228	Q92973-3;Q92973	.;TNPO1_HUMAN	V	228;178;178;220	ENSP00000336712:L228V;ENSP00000398524:L178V;ENSP00000428899:L178V;ENSP00000425118:L220V	ENSP00000336712:L228V	L	+	1	0	TNPO1	72207201	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.633000	0.61318	1.165000	0.42670	0.585000	0.79938	CTC		0.393	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		6	44	0	0	0	0.001168	0	6	44				
PDE8B	8622	broad.mit.edu	37	5	76627258	76627258	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:76627258C>A	ENST00000264917.5	+	5	727	c.682C>A	c.(682-684)Cct>Act	p.P228T	PDE8B_ENST00000333194.4_Missense_Mutation_p.P228T|PDE8B_ENST00000340978.3_Missense_Mutation_p.P228T|PDE8B_ENST00000342343.4_Missense_Mutation_p.P208T|PDE8B_ENST00000346042.3_Missense_Mutation_p.P228T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	228					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.P228T(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GTCAGTCCTTCCTCTTCTCCA	0.498																																							uc003kfa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(682-684)CCT>ACT		phosphodiesterase 8B isoform 1							234.0	208.0	217.0					5																	76627258		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76627258C>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.682C>A	5.37:g.76627258C>A	ENSP00000264917:p.Pro228Thr					PDE8B_uc003kfb.2_Missense_Mutation_p.P208T|PDE8B_uc003kfc.2_Missense_Mutation_p.P228T|PDE8B_uc003kfd.2_Missense_Mutation_p.P228T|PDE8B_uc003kfe.2_Missense_Mutation_p.P228T	p.P228T	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	5	727	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	228					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.682C>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942299	0.92526	.	.	ENSG00000113231	ENST00000505926;ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000502945	T;T;T;T;T;T;T	0.47528	0.84;1.05;1.05;1.05;1.05;1.05;0.84	5.26	5.26	0.73747	Signal transduction response regulator, receiver domain (1);	0.167565	0.53938	D	0.000045	T	0.68988	0.3061	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.56746	0.972;0.972;0.972;0.972;0.977	P;P;P;P;P	0.62560	0.844;0.844;0.844;0.844;0.904	T	0.72253	-0.4347	10	0.72032	D	0.01	.	19.0661	0.93110	0.0:1.0:0.0:0.0	.	228;228;228;208;228	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	104;228;228;228;208;228;104	ENSP00000425720:P104T;ENSP00000345446:P228T;ENSP00000330428:P228T;ENSP00000264917:P228T;ENSP00000345646:P208T;ENSP00000331336:P228T;ENSP00000426200:P104T	ENSP00000264917:P228T	P	+	1	0	PDE8B	76663014	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.217000	0.72218	2.746000	0.94184	0.655000	0.94253	CCT		0.498	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		35	67	1	0	1.90571e-15	0.004289	3.339e-15	35	67				
HNRNPA1P12	644037	broad.mit.edu	37	5	79655823	79655823	+	IGR	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:79655823G>T								SPZ1 (38162 upstream) : RNU6-211P (5721 downstream)														p.L13M(1)									AGCTTCCTCAGCTGTTCGGGC	0.498																																							uc003kgo.2		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(-80--76)AGCTG>AGATG		SubName: Full=Putative uncharacterized protein; Flags: Fragment;																																				SO:0001628	intergenic_variant	0							g.chr5:79655823G>T																													5.37:g.79655823G>T														1	85	-									Translation_Start_Site	SNP		37	c.-78C>A																																																																																				0	0.498									7	15	1	0	1.06961e-07	0.00308	1.54041e-07	7	15				
VCAN	1462	broad.mit.edu	37	5	82837667	82837667	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:82837667C>A	ENST00000265077.3	+	8	9410	c.8845C>A	c.(8845-8847)Ccc>Acc	p.P2949T	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1962T|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2949	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P2949T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAAGATGTTTCCCACCATTAA	0.428																																							uc003kii.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8845-8847)CCC>ACC		versican isoform 1 precursor							78.0	83.0	81.0					5																	82837667		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837667C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8845C>A	5.37:g.82837667C>A	ENSP00000265077:p.Pro2949Thr					VCAN_uc003kij.3_Missense_Mutation_p.P1962T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1613T	p.P2949T	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9201	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2949			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8845C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	1.607	-0.525109	0.04141	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.16897	2.31;2.31	5.77	-1.62	0.08372	.	1.084430	0.06999	N	0.822920	T	0.08492	0.0211	N	0.11560	0.145	0.09310	N	1	B;B	0.26845	0.161;0.1	B;B	0.32928	0.155;0.074	T	0.38735	-0.9647	10	0.30078	T	0.28	.	2.3096	0.04183	0.1072:0.3061:0.3283:0.2584	.	1962;2949	P13611-2;P13611	.;CSPG2_HUMAN	T	2949;1962	ENSP00000265077:P2949T;ENSP00000340062:P1962T	ENSP00000265077:P2949T	P	+	1	0	VCAN	82873423	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.295000	0.08298	-0.696000	0.05098	-0.769000	0.03391	CCC		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		14	58	1	0	3.45872e-05	0.004007	4.35254e-05	14	58				
MAN2A1	4124	broad.mit.edu	37	5	109178149	109178149	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:109178149T>G	ENST00000261483.4	+	17	3739	c.2687T>G	c.(2686-2688)cTa>cGa	p.L896R		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	896					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.L896R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TATACTGACCTAAATGGGTAC	0.303																																							uc003kou.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2686-2688)CTA>CGA		mannosidase, alpha, class 2A, member 1							50.0	57.0	54.0					5																	109178149		2198	4283	6481	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109178149T>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2687T>G	5.37:g.109178149T>G	ENSP00000261483:p.Leu896Arg						p.L896R	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	17	3650	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	896			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2687T>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715825	0.68844	.	.	ENSG00000112893	ENST00000261483	T	0.79454	-1.27	5.49	5.49	0.81192	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.64402	D	0.000001	D	0.90400	0.6995	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92446	0.5966	10	0.72032	D	0.01	-10.7765	15.8796	0.79193	0.0:0.0:0.0:1.0	.	896	Q16706	MA2A1_HUMAN	R	896	ENSP00000261483:L896R	ENSP00000261483:L896R	L	+	2	0	MAN2A1	109206048	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.316000	0.65815	2.205000	0.71048	0.477000	0.44152	CTA		0.303	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			13	36	0	0	0	0.006122	0	13	36				
SRFBP1	153443	broad.mit.edu	37	5	121356095	121356095	+	Missense_Mutation	SNP	C	C	T	rs78373051	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:121356095C>T	ENST00000339397.4	+	6	737	c.665C>T	c.(664-666)cCt>cTt	p.P222L		NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.P222L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		CAGAAGACACCTGCTGACCCA	0.413																																							uc003kst.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(664-666)CCT>CTT		serum response factor binding protein 1							76.0	70.0	72.0					5																	121356095		1831	4078	5909	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356095C>T	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.665C>T	5.37:g.121356095C>T	ENSP00000341324:p.Pro222Leu						p.P222L	NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	737	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	222						Missense_Mutation	SNP	ENST00000339397.4	37	c.665C>T	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577866	0.28180	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.45	4.58	0.56647	.	0.647915	0.16504	N	0.211505	T	0.31009	0.0783	L	0.31926	0.97	0.21652	N	0.999603	B	0.12013	0.005	B	0.08055	0.003	T	0.12502	-1.0545	9	0.62326	D	0.03	-2.7815	8.3574	0.32338	0.0:0.8219:0.0:0.1781	.	222	Q8NEF9	SRFB1_HUMAN	L	222	.	ENSP00000341324:P222L	P	+	2	0	SRFBP1	121383994	0.003000	0.15002	0.063000	0.19743	0.017000	0.09413	1.534000	0.36051	2.556000	0.86216	0.467000	0.42956	CCT		0.413	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		14	42	0	0	0	0.003163	0	14	42				
SNX24	28966	broad.mit.edu	37	5	122337653	122337653	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:122337653T>C	ENST00000261369.4	+	6	581	c.396T>C	c.(394-396)ccT>ccC	p.P132P	SNX24_ENST00000513881.1_Silent_p.P132P|SNX24_ENST00000506996.1_Silent_p.P132P|SNX24_ENST00000395451.4_Silent_p.P165P	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	132					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.P132P(1)		lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CCCACCAGCCTGTGCTGCTGT	0.502																																							uc011cwo.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)CCT>CCC		SBBI31 protein							174.0	151.0	159.0					5																	122337653		2203	4300	6503	SO:0001819	synonymous_variant	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122337653T>C	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.396T>C	5.37:g.122337653T>C						SNX24_uc003ktf.2_Silent_p.P132P|SNX24_uc010jcy.2_Silent_p.P132P	p.P132P	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	6	565	+		Prostate(80;0.0387)	132					Q6UY33	Silent	SNP	ENST00000261369.4	37	c.396T>C	CCDS4132.1																																																																																				0.502	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		27	62	0	0	0	0.008361	0	27	62				
FBN2	2201	broad.mit.edu	37	5	127673811	127673811	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:127673811A>T	ENST00000508053.1	-	33	4450	c.3476T>A	c.(3475-3477)aTt>aAt	p.I1159N	FBN2_ENST00000262464.4_Missense_Mutation_p.I1159N|FBN2_ENST00000507835.1_Missense_Mutation_p.I9N|FBN2_ENST00000508989.1_Missense_Mutation_p.I1126N			P35556	FBN2_HUMAN	fibrillin 2	1159	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I1159N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACATTCGTCAATGTCTGAAAG	0.458																																							uc003kuu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3475-3477)ATT>AAT		fibrillin 2 precursor							65.0	60.0	62.0					5																	127673811		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127673811A>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3476T>A	5.37:g.127673811A>T	ENSP00000424571:p.Ile1159Asn					FBN2_uc003kuv.2_Missense_Mutation_p.I1126N	p.I1159N	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	27	3915	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1159			EGF-like 17; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3476T>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678893	0.88542	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.93659	-3.26;-3.26;-2.32;-3.26	4.89	4.89	0.63831	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.070621	0.56097	D	0.000038	D	0.97015	0.9025	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.83275	0.96;0.996	D	0.97827	1.0260	10	0.87932	D	0	.	14.9721	0.71243	1.0:0.0:0.0:0.0	.	1126;1159	D6RJI3;P35556	.;FBN2_HUMAN	N	1159;1159;9;1126	ENSP00000262464:I1159N;ENSP00000424571:I1159N;ENSP00000426839:I9N;ENSP00000425596:I1126N	ENSP00000262464:I1159N	I	-	2	0	FBN2	127701710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.191000	0.70037	0.528000	0.53228	ATT		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	13	0	0	0	0.004482	0	7	13				
PCDHA3	56145	broad.mit.edu	37	5	140181091	140181091	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140181091C>A	ENST00000522353.2	+	1	309	c.309C>A	c.(307-309)agC>agA	p.S103R	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S103R	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S103R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGTGCAGCATCCACCTGG	0.547																																							uc003lhf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)	8						c.(307-309)AGC>AGA		protocadherin alpha 3 isoform 1 precursor							132.0	145.0	140.0					5																	140181091		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181091C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.309C>A	5.37:g.140181091C>A	ENSP00000429808:p.Ser103Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S103R	p.S103R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	309	+			103			Cadherin 1.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.309C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	10.60	1.395893	0.25205	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.27557	1.66;1.66	4.35	2.41	0.29592	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.133605	0.33401	U	0.004956	T	0.37517	0.1006	M	0.88450	2.955	0.21445	N	0.999684	P;P	0.37914	0.556;0.611	B;B	0.41691	0.364;0.122	T	0.36696	-0.9737	10	0.48119	T	0.1	.	3.1558	0.06504	0.1402:0.5608:0.1366:0.1625	.	103;103	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	R	103	ENSP00000429808:S103R;ENSP00000434086:S103R	ENSP00000429808:S103R	S	+	3	2	PCDHA3	140161275	0.000000	0.05858	1.000000	0.80357	0.677000	0.39632	-1.816000	0.01720	0.964000	0.38108	0.467000	0.42956	AGC		0.547	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		37	81	1	0	2.40579e-17	0.00623	4.32448e-17	37	81				
PCDHA10	56139	broad.mit.edu	37	5	140237058	140237058	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140237058G>T	ENST00000307360.5	+	1	1425	c.1425G>T	c.(1423-1425)acG>acT	p.T475T	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.T475T|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T475T(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGT	0.657																																							uc003lhx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1423-1425)ACG>ACT		protocadherin alpha 10 isoform 1 precursor							92.0	90.0	90.0					5																	140237058		2196	4272	6468	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237058G>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1425G>T	5.37:g.140237058G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.T475T|PCDHA10_uc011dad.1_Silent_p.T475T	p.T475T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1425	+			475			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1425G>T	CCDS54921.1																																																																																				0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		30	69	1	0	3.11337e-16	0.002836	5.53489e-16	30	69				
PCDHA12	56137	broad.mit.edu	37	5	140256592	140256592	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140256592C>T	ENST00000398631.2	+	1	1535	c.1535C>T	c.(1534-1536)gCg>gTg	p.A512V	PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A512V(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGCACGCGGAGAGCGGC	0.701																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1534-1536)GCG>GTG		protocadherin alpha 12 isoform 1 precursor							72.0	74.0	73.0					5																	140256592		2203	4299	6502	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256592C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1535C>T	5.37:g.140256592C>T	ENSP00000381628:p.Ala512Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A512V	p.A512V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1662	+			512			Cadherin 5.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1535C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718490	0.89205	.	.	ENSG00000251664	ENST00000398631	T	0.52983	0.64	4.98	4.98	0.66077	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64360	0.2591	L	0.49699	1.58	0.26243	N	0.978832	D;D	0.69078	0.997;0.995	D;D	0.67725	0.953;0.95	T	0.59653	-0.7414	9	0.87932	D	0	.	17.9109	0.88934	0.0:1.0:0.0:0.0	.	512;512	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	512	ENSP00000381628:A512V	ENSP00000381628:A512V	A	+	2	0	PCDHA12	140236776	0.016000	0.18221	1.000000	0.80357	0.994000	0.84299	2.736000	0.47385	2.325000	0.78763	0.556000	0.70494	GCG		0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		22	37	0	0	0	0.001882	0	22	37				
PCDHA13	56136	broad.mit.edu	37	5	140262359	140262359	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140262359C>A	ENST00000289272.2	+	1	506	c.506C>A	c.(505-507)aCc>aAc	p.T169N	PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.T169N|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T169N(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGCATTGACCTACCGACTG	0.433																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(505-507)ACC>AAC		protocadherin alpha 13 isoform 1 precursor							99.0	95.0	97.0					5																	140262359		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262359C>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.506C>A	5.37:g.140262359C>A	ENSP00000289272:p.Thr169Asn					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.T169N|PCDHA13_uc003lid.2_Missense_Mutation_p.T169N	p.T169N	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	506	+			169			Extracellular (Potential).|Cadherin 2.		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.506C>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	8.330	0.826340	0.16749	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53206	0.63;0.63	5.49	1.44	0.22558	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33294	0.0858	L	0.28694	0.88	0.09310	N	0.999998	B;B;B	0.21147	0.029;0.052;0.042	B;B;B	0.32928	0.155;0.039;0.136	T	0.37572	-0.9700	9	0.46703	T	0.11	.	1.2587	0.01997	0.3414:0.2993:0.2038:0.1554	.	169;169;169	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	N	169	ENSP00000386821:T169N;ENSP00000289272:T169N	ENSP00000289272:T169N	T	+	2	0	PCDHA13	140242543	0.000000	0.05858	0.215000	0.23724	0.702000	0.40608	-0.962000	0.03841	0.264000	0.21851	0.491000	0.48974	ACC		0.433	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		13	34	1	0	1.5842e-08	0.001855	2.37548e-08	13	34				
PCDHAC1	56135	broad.mit.edu	37	5	140308490	140308490	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140308490G>C	ENST00000253807.2	+	1	2013	c.2013G>C	c.(2011-2013)tgG>tgC	p.W671C	PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.W671C|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	671					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.W671C(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGTCTGGGAACCAGGAG	0.473																																							uc003lih.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2011-2013)TGG>TGC		protocadherin alpha subfamily C, 1 isoform 1							124.0	122.0	122.0					5																	140308490		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140308490G>C	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2013G>C	5.37:g.140308490G>C	ENSP00000253807:p.Trp671Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.W671C	p.W671C	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2189	+			671			Extracellular (Potential).		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2013G>C	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090401	0.36855	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50813	0.75;0.73	5.95	5.95	0.96441	.	.	.	.	.	T	0.45478	0.1344	L	0.38175	1.15	0.44603	D	0.997578	B;D	0.56035	0.013;0.974	B;P	0.47118	0.002;0.538	T	0.27839	-1.0062	9	0.38643	T	0.18	.	15.1313	0.72527	0.0:0.0:0.8587:0.1413	.	671;671	Q9H158;Q9H158-2	PCDC1_HUMAN;.	C	671	ENSP00000386356:W671C;ENSP00000253807:W671C	ENSP00000253807:W671C	W	+	3	0	PCDHAC1	140288674	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.144000	0.42197	2.817000	0.96982	0.563000	0.77884	TGG		0.473	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		15	144	0	0	0	0.003163	0	15	144				
PCDHB2	56133	broad.mit.edu	37	5	140476327	140476327	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140476327G>T	ENST00000194155.4	+	1	2101	c.1953G>T	c.(1951-1953)gaG>gaT	p.E651D		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	651	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E651D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGGCGAGCCTCCGCGCT	0.721																																							uc003lil.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1951-1953)GAG>GAT		protocadherin beta 2 precursor							28.0	29.0	29.0					5																	140476327		2104	4124	6228	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476327G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1953G>T	5.37:g.140476327G>T	ENSP00000194155:p.Glu651Asp					PCDHB2_uc003lim.1_Missense_Mutation_p.E312D	p.E651D	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2091	+			651			Cadherin 6.|Extracellular (Potential).		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1953G>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	6.108	0.388184	0.11581	.	.	ENSG00000112852	ENST00000194155	T	0.52754	0.65	3.99	1.01	0.19927	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34193	0.0889	L	0.41415	1.275	0.25962	N	0.982618	B	0.16802	0.019	B	0.20384	0.029	T	0.25779	-1.0122	9	0.36615	T	0.2	.	4.6131	0.12413	0.0878:0.4141:0.3564:0.1417	.	651	Q9Y5E7	PCDB2_HUMAN	D	651	ENSP00000194155:E651D	ENSP00000194155:E651D	E	+	3	2	PCDHB2	140456511	0.006000	0.16342	0.971000	0.41717	0.325000	0.28411	-0.541000	0.06099	0.242000	0.21303	0.456000	0.33151	GAG		0.721	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		21	36	1	0	9.86323e-18	0.003954	1.77954e-17	21	36				
PCDHB4	56131	broad.mit.edu	37	5	140502416	140502416	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140502416G>T	ENST00000194152.1	+	1	836	c.836G>T	c.(835-837)gGc>gTc	p.G279V	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	279	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G279V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCTTATGGCTTATTCCAA	0.373																																							uc003lip.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(835-837)GGC>GTC		protocadherin beta 4 precursor							98.0	113.0	108.0					5																	140502416		2202	4300	6502	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502416G>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.836G>T	5.37:g.140502416G>T	ENSP00000194152:p.Gly279Val						p.G279V	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	836	+			279			Cadherin 3.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.836G>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	3.746	-0.052549	0.07362	.	.	ENSG00000081818	ENST00000194152	T	0.50813	0.73	4.26	0.0357	0.14188	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28333	0.0700	N	0.16307	0.4	0.20307	N	0.999915	B	0.02656	0.0	B	0.08055	0.003	T	0.22243	-1.0222	9	0.59425	D	0.04	.	6.1753	0.20441	0.2812:0.4586:0.2602:0.0	.	279	Q9Y5E5	PCDB4_HUMAN	V	279	ENSP00000194152:G279V	ENSP00000194152:G279V	G	+	2	0	PCDHB4	140482600	0.000000	0.05858	0.038000	0.18304	0.591000	0.36615	1.343000	0.33930	0.168000	0.19655	-0.143000	0.13931	GGC		0.373	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		37	64	1	0	1.66425e-11	0.004878	2.72877e-11	37	64				
PCDHB7	56129	broad.mit.edu	37	5	140553578	140553578	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140553578G>T	ENST00000231137.3	+	1	1336	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	388	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D388Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGACGATGTCCCCTT	0.468																																							uc003lit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1162-1164)GAT>TAT		protocadherin beta 7 precursor							75.0	76.0	75.0					5																	140553578		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553578G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1162G>T	5.37:g.140553578G>T	ENSP00000231137:p.Asp388Tyr						p.D388Y	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1336	+			388			Extracellular (Potential).|Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1162G>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970640	0.34754	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.39997	1.05	4.61	-0.914	0.10497	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51550	0.1681	M	0.91972	3.26	0.21950	N	0.999455	P	0.38745	0.645	B	0.40602	0.334	T	0.51996	-0.8634	9	0.62326	D	0.03	.	9.7626	0.40541	0.1861:0.4852:0.3286:0.0	.	388	Q9Y5E2	PCDB7_HUMAN	Y	388;171	ENSP00000231137:D388Y	ENSP00000231137:D388Y	D	+	1	0	PCDHB7	140533762	0.000000	0.05858	0.019000	0.16419	0.909000	0.53808	-1.483000	0.02318	-0.154000	0.11118	0.650000	0.86243	GAT		0.468	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		6	27	1	0	0.00198382	0.001984	0.00217995	6	27				
PCDHB8	56128	broad.mit.edu	37	5	140558593	140558593	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140558593A>T	ENST00000239444.2	+	1	1223	c.978A>T	c.(976-978)ggA>ggT	p.G326G	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	326	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)	p.G326G(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGATGCTGGAGGCTTTTCTG	0.418																																							uc011dai.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)	4						c.(976-978)GGA>GGT		protocadherin beta 8 precursor							178.0	249.0	225.0					5																	140558593		2203	4300	6503	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558593A>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.978A>T	5.37:g.140558593A>T						PCDHB16_uc003liv.2_5'Flank	p.G326G	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1164	+			326			Cadherin 3.|Extracellular (Potential).		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.978A>T	CCDS4250.1																																																																																				0.418	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		23	401	0	0	0	0.00333	0	23	401				
PCDHB8	56128	broad.mit.edu	37	5	140559020	140559020	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140559020C>G	ENST00000239444.2	+	1	1650	c.1405C>G	c.(1405-1407)Ctg>Gtg	p.L469V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L469V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCACATCGG	0.647																																							uc011dai.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1405-1407)CTG>GTG		protocadherin beta 8 precursor							85.0	129.0	114.0					5																	140559020		2202	4277	6479	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559020C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1405C>G	5.37:g.140559020C>G	ENSP00000239444:p.Leu469Val					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.L469V	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1591	+			469			Cadherin 5.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1405C>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	c	14.76	2.630887	0.46944	.	.	ENSG00000120322	ENST00000239444	T	0.49720	0.77	4.26	3.38	0.38709	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.45175	0.1329	N	0.11845	0.185	0.25448	N	0.988039	D	0.71674	0.998	D	0.71414	0.973	T	0.19614	-1.0300	9	0.56958	D	0.05	.	6.0042	0.19537	0.0:0.6654:0.1574:0.1772	.	469	Q9UN66	PCDB8_HUMAN	V	469	ENSP00000239444:L469V	ENSP00000239444:L469V	L	+	1	2	PCDHB8	140539204	0.000000	0.05858	1.000000	0.80357	0.955000	0.61496	-0.578000	0.05841	1.920000	0.55613	0.305000	0.20034	CTG		0.647	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		52	233	0	0	0	0.00361	0	52	233				
PCDHB8	56128	broad.mit.edu	37	5	140559032	140559032	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140559032A>C	ENST00000239444.2	+	1	1662	c.1417A>C	c.(1417-1419)Agc>Cgc	p.S473R	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	473	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S473R(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACATCGGCAGCGTCAGCGC	0.667																																							uc011dai.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1417-1419)AGC>CGC		protocadherin beta 8 precursor							81.0	123.0	109.0					5																	140559032		2203	4294	6497	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559032A>C	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1417A>C	5.37:g.140559032A>C	ENSP00000239444:p.Ser473Arg					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.S473R	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1603	+			473			Cadherin 5.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1417A>C	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500757	0.44455	.	.	ENSG00000120322	ENST00000239444	T	0.01838	4.61	4.26	1.68	0.24146	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.05044	0.0135	L	0.38838	1.175	0.09310	N	1	D	0.57257	0.979	D	0.65573	0.936	T	0.41805	-0.9488	9	0.54805	T	0.06	.	3.6892	0.08339	0.5647:0.0:0.1556:0.2797	.	473	Q9UN66	PCDB8_HUMAN	R	473	ENSP00000239444:S473R	ENSP00000239444:S473R	S	+	1	0	PCDHB8	140539216	0.000000	0.05858	0.998000	0.56505	0.972000	0.66771	-0.234000	0.09028	0.475000	0.27415	0.254000	0.18369	AGC		0.667	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		29	252	0	0	0	0.003755	0	29	252				
TAF7	6879	broad.mit.edu	37	5	140698604	140698604	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140698604G>A	ENST00000313368.5	-	1	1726	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	336					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)	p.L336L(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAGAGCTGAGTTGCTCCT	0.403																																							uc003ljg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1006-1008)CTC>CTT		TATA box-binding protein-associated factor 2F							98.0	86.0	90.0					5																	140698604		2203	4300	6503	SO:0001819	synonymous_variant	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140698604G>A	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.1008C>T	5.37:g.140698604G>A							p.L336L	NM_005642	NP_005633	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1748	-			336			Potential.		B2RBV9|Q13036	Silent	SNP	ENST00000313368.5	37	c.1008C>T	CCDS4259.1																																																																																				0.403	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		9	20	0	0	0	0.006214	0	9	20				
PCDHGA3	56112	broad.mit.edu	37	5	140725056	140725056	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140725056C>G	ENST00000253812.6	+	1	1456	c.1456C>G	c.(1456-1458)Cgc>Ggc	p.R486G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	486	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R486G(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAACGCCCGCATCACTTA	0.552																																							uc003ljm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1456-1458)CGC>GGC		protocadherin gamma subfamily A, 3 isoform 1							87.0	97.0	94.0					5																	140725056		2099	4254	6353	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725056C>G	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1456C>G	5.37:g.140725056C>G	ENSP00000253812:p.Arg486Gly					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.R246G|PCDHGA3_uc011dap.1_Missense_Mutation_p.R486G	p.R486G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1456	+			486			Extracellular (Potential).|Cadherin 5.		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1456C>G	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	3.100	-0.185046	0.06340	.	.	ENSG00000254245	ENST00000253812	T	0.53423	0.62	5.36	4.48	0.54585	Cadherin (4);Cadherin-like (1);	2.709940	0.03202	U	0.174961	T	0.62708	0.2450	M	0.76838	2.35	0.09310	N	1	P;P	0.42908	0.633;0.793	P;P	0.48982	0.597;0.548	T	0.50659	-0.8802	10	0.62326	D	0.03	.	8.4201	0.32694	0.2577:0.6651:0.0:0.0772	.	486;486	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	G	486	ENSP00000253812:R486G	ENSP00000253812:R486G	R	+	1	0	PCDHGA3	140705240	0.000000	0.05858	0.443000	0.26883	0.170000	0.22686	0.048000	0.14078	2.665000	0.90641	0.563000	0.77884	CGC		0.552	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		23	45	0	0	0	0.002299	0	23	45				
PCDHGB4	8641	broad.mit.edu	37	5	140769611	140769611	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140769611C>T	ENST00000519479.1	+	1	2160	c.2160C>T	c.(2158-2160)gcC>gcT	p.A720A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	720					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A720A(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCCCGCCTCCTGGAGCT	0.562																																							uc003lkc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2158-2160)GCC>GCT		protocadherin gamma subfamily B, 4 isoform 1							142.0	159.0	153.0					5																	140769611		2023	4188	6211	SO:0001819	synonymous_variant	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769611C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2160C>T	5.37:g.140769611C>T						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_uc011dav.1_Silent_p.A720A	p.A720A	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2160	+			720			Cytoplasmic (Potential).		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.2160C>T	CCDS54928.1																																																																																				0.562	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		50	99	0	0	0	0.00361	0	50	99				
PCDHGA8	9708	broad.mit.edu	37	5	140772969	140772969	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140772969G>A	ENST00000398604.2	+	1	589	c.589G>A	c.(589-591)Gag>Aag	p.E197K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E197K(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGCTGGAGCGCGCCCT	0.632																																							uc003lkd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(589-591)GAG>AAG		protocadherin gamma subfamily A, 8 isoform 1							45.0	52.0	50.0					5																	140772969		2174	4297	6471	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140772969G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.589G>A	5.37:g.140772969G>A	ENSP00000381605:p.Glu197Lys					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_uc003lkb.3_Missense_Mutation_p.E197K	p.E197K	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1487	+			197			Extracellular (Potential).|Cadherin 2.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.589G>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.874029	0.33069	.	.	ENSG00000253767	ENST00000398604	T	0.49432	0.78	5.41	4.54	0.55810	Cadherin (4);Cadherin-like (1);	0.785519	0.09508	U	0.792761	T	0.54870	0.1885	L	0.39397	1.21	0.21604	N	0.999624	B;B	0.24618	0.107;0.07	B;B	0.41813	0.367;0.17	T	0.56655	-0.7943	10	0.37606	T	0.19	.	16.9202	0.86162	0.0:0.2427:0.7573:0.0	.	197;197	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	K	197	ENSP00000381605:E197K	ENSP00000381605:E197K	E	+	1	0	PCDHGA8	140753153	0.016000	0.18221	1.000000	0.80357	0.833000	0.47200	1.046000	0.30354	0.678000	0.31325	-0.795000	0.03280	GAG		0.632	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		10	17	0	0	0	0.006214	0	10	17				
PCDHGB3	56102	broad.mit.edu	37	5	140780026	140780026	+	Intron	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140780026G>T	ENST00000576222.1	+	1	2546				PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACTTTGTGGTGATTCATC	0.398																																							uc003lkf.1		NA																	0					0						c.(2332-2334)GGT>TGT		protocadherin gamma subfamily B, 5 isoform 1							281.0	275.0	277.0					5																	140780026		1895	4112	6007	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140780026G>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27650G>T	5.37:g.140780026G>T						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_uc011daw.1_Missense_Mutation_p.G778C|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	p.G778C	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2332	+			778			Cytoplasmic (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2332G>T	CCDS58980.1																																																																																				0.398	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		40	100	1	0	1.61863e-15	0.00361	2.84628e-15	40	100				
PCDH1	5097	broad.mit.edu	37	5	141244261	141244261	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:141244261C>A	ENST00000394536.3	-	3	1774	c.1635G>T	c.(1633-1635)ctG>ctT	p.L545L	PCDH1_ENST00000536585.1_Silent_p.L523L|PCDH1_ENST00000456271.1_Silent_p.L533L|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000287008.3_Silent_p.L545L	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L545L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCTCAGGCTCCAGAGAGTAAA	0.552																																					Ovarian(132;1609 1739 4190 14731 45037)	Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1633-1635)CTG>CTT		protocadherin 1 isoform 1 precursor							58.0	53.0	55.0					5																	141244261		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244261C>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1635G>T	5.37:g.141244261C>A						PCDH1_uc003llp.2_Silent_p.L545L|PCDH1_uc011dbf.1_Silent_p.L523L	p.L545L	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1752	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	545			Extracellular (Potential).|Cadherin 5.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.1635G>T	CCDS43375.1																																																																																				0.552	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		14	24	1	0	4.3838e-07	0.001855	6.12554e-07	14	24				
STK32A	202374	broad.mit.edu	37	5	146658824	146658824	+	Silent	SNP	G	G	A	rs370230926		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:146658824G>A	ENST00000397936.3	+	4	456	c.123G>A	c.(121-123)caG>caA	p.Q41Q	STK32A_ENST00000398521.3_Silent_p.Q41Q|STK32A_ENST00000398523.3_Silent_p.Q41Q|STK32A_ENST00000541094.1_Silent_p.Q41Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q41Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATTGTACAGAAGAATGATA	0.413																																							uc010jgn.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|skin(1)	3						c.(121-123)CAG>CAA		serine/threonine kinase 32A isoform 1		G	,	0,3860		0,0,1930	85.0	84.0	84.0		123,123	3.7	1.0	5		84	2,8290		0,2,4144	no	coding-synonymous,coding-synonymous	STK32A	NM_001112724.1,NM_145001.3	,	0,2,6074	AA,AG,GG		0.0241,0.0,0.0165	,	41/397,41/167	146658824	2,12150	1930	4146	6076	SO:0001819	synonymous_variant	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146658824G>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.123G>A	5.37:g.146658824G>A						STK32A_uc003lol.3_Silent_p.Q41Q|STK32A_uc003lom.2_Silent_p.Q41Q|STK32A_uc011dbw.1_Silent_p.Q41Q	p.Q41Q	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	403	+			41			Protein kinase.		B3KSY0	Silent	SNP	ENST00000397936.3	37	c.123G>A	CCDS47299.1																																																																																				0.413	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		11	17	0	0	0	0.001368	0	11	17				
ABLIM3	22885	broad.mit.edu	37	5	148586668	148586668	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:148586668C>A	ENST00000506113.1	+	5	1028	c.546C>A	c.(544-546)agC>agA	p.S182R	ABLIM3_ENST00000356541.3_Missense_Mutation_p.S182R|ABLIM3_ENST00000504238.1_Missense_Mutation_p.S182R|ABLIM3_ENST00000326685.7_Missense_Mutation_p.S182R|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S182R|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S182R			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	182	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.S182R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTGCAGCGTCATCCTCA	0.622																																							uc003lpy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(544-546)AGC>AGA		actin binding LIM protein family, member 3							101.0	87.0	92.0					5																	148586668		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148586668C>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.546C>A	5.37:g.148586668C>A	ENSP00000425394:p.Ser182Arg					ABLIM3_uc003lpz.1_Missense_Mutation_p.S182R|ABLIM3_uc003lqa.1_Missense_Mutation_p.S190R|ABLIM3_uc003lqb.2_Missense_Mutation_p.S182R|ABLIM3_uc003lqc.1_Missense_Mutation_p.S182R|ABLIM3_uc003lqd.1_Missense_Mutation_p.S182R|ABLIM3_uc003lqf.2_Missense_Mutation_p.S182R|ABLIM3_uc003lqe.1_Missense_Mutation_p.S182R	p.S182R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	797	+			182			LIM zinc-binding 3.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.546C>A	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859182	0.51376	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.33	-4.92	0.03075	Zinc finger, LIM-type (5);	0.207938	0.50627	D	0.000105	T	0.72922	0.3521	N	0.16656	0.425	0.35357	D	0.787867	B;P;B	0.40250	0.236;0.709;0.189	B;B;B	0.43889	0.353;0.435;0.22	T	0.67562	-0.5639	10	0.42905	T	0.14	.	5.0042	0.14280	0.0808:0.2716:0.1206:0.527	.	182;182;182	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	R	182	ENSP00000315841:S182R;ENSP00000348938:S182R;ENSP00000310309:S182R;ENSP00000425394:S182R;ENSP00000421183:S182R;ENSP00000420855:S182R	ENSP00000310309:S182R	S	+	3	2	ABLIM3	148566861	0.022000	0.18835	0.903000	0.35520	0.942000	0.58702	-0.755000	0.04782	-0.929000	0.03757	-0.350000	0.07774	AGC		0.622	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		6	29	1	0	3.59834e-05	0.001168	4.49329e-05	6	29				
TCOF1	6949	broad.mit.edu	37	5	149751720	149751720	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:149751720A>G	ENST00000504761.2	+	7	791	c.791A>G	c.(790-792)aAg>aGg	p.K264R	TCOF1_ENST00000377797.3_Missense_Mutation_p.K264R|TCOF1_ENST00000451292.1_Missense_Mutation_p.K264R|TCOF1_ENST00000323668.7_Intron|TCOF1_ENST00000513346.1_Missense_Mutation_p.K264R|TCOF1_ENST00000439160.2_Missense_Mutation_p.K264R|TCOF1_ENST00000445265.2_Intron|TCOF1_ENST00000394269.3_Missense_Mutation_p.K264R			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	264					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.K264R(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAGGGCCAAGAAGCCAGAA	0.637																																							uc003lry.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(790-792)AAG>AGG		Treacher Collins-Franceschetti syndrome 1							30.0	36.0	34.0					5																	149751720		2067	4188	6255	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149751720A>G		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.791A>G	5.37:g.149751720A>G	ENSP00000421655:p.Lys264Arg					TCOF1_uc003lrw.2_Missense_Mutation_p.K264R|TCOF1_uc011dch.1_Missense_Mutation_p.K264R|TCOF1_uc003lrz.2_Missense_Mutation_p.K264R|TCOF1_uc003lrx.2_Intron|TCOF1_uc003lsa.2_Intron	p.K264R	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	899	+		all_hematologic(541;0.224)	264					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.791A>G	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304452	0.40795	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;1.56;-0.03;-0.04;-0.04	4.7	-1.01	0.10169	Treacher Collins syndrome, treacle (1);	1.021960	0.07838	N	0.962449	T	0.46908	0.1417	L	0.48362	1.52	0.09310	N	1	B;B;B;B	0.30634	0.22;0.22;0.288;0.002	B;B;B;B	0.29176	0.099;0.099;0.072;0.007	T	0.38001	-0.9681	10	0.37606	T	0.19	-0.2464	0.6561	0.00835	0.3932:0.2495:0.2026:0.1547	.	264;264;264;264	Q13428-7;Q13428-6;Q13428;Q13428-5	.;.;TCOF_HUMAN;.	R	264	ENSP00000400939:K264R;ENSP00000367028:K264R;ENSP00000406888:K264R;ENSP00000377811:K264R;ENSP00000390717:K264R;ENSP00000421655:K264R;ENSP00000427484:K264R	ENSP00000367028:K264R	K	+	2	0	TCOF1	149731913	0.000000	0.05858	0.000000	0.03702	0.793000	0.44817	-1.450000	0.02390	-0.032000	0.13758	0.459000	0.35465	AAG		0.637	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		8	18	0	0	0	0.006214	0	8	18				
FAT2	2196	broad.mit.edu	37	5	150922455	150922455	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:150922455C>A	ENST00000261800.5	-	9	8245	c.8233G>T	c.(8233-8235)Gac>Tac	p.D2745Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2745	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2745Y(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCTGTGTCTGGGTCTAGG	0.498																																							uc003lue.3		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(8233-8235)GAC>TAC		FAT tumor suppressor 2 precursor							149.0	130.0	137.0					5																	150922455		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922455C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8233G>T	5.37:g.150922455C>A	ENSP00000261800:p.Asp2745Tyr					GM2A_uc011dcs.1_Intron	p.D2745Y	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8246	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2745			Cadherin 24.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8233G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926273	0.34002	.	.	ENSG00000086570	ENST00000261800	T	0.54675	0.56	5.55	2.33	0.28932	Cadherin (4);Cadherin-like (1);	0.584562	0.17194	N	0.183390	T	0.60196	0.2250	M	0.63208	1.945	0.46564	D	0.999109	P	0.49961	0.93	P	0.60068	0.868	T	0.52139	-0.8615	10	0.25751	T	0.34	.	6.967	0.24629	0.0:0.5744:0.1594:0.2662	.	2745	Q9NYQ8	FAT2_HUMAN	Y	2745	ENSP00000261800:D2745Y	ENSP00000261800:D2745Y	D	-	1	0	FAT2	150902648	0.899000	0.30636	0.857000	0.33713	0.713000	0.41058	0.707000	0.25704	0.072000	0.16694	0.462000	0.41574	GAC		0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		26	43	1	0	2.41591e-17	0.004656	4.33198e-17	26	43				
FAT2	2196	broad.mit.edu	37	5	150932774	150932774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:150932774C>A	ENST00000261800.5	-	5	4132	c.4120G>T	c.(4120-4122)Gag>Tag	p.E1374*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1374	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1374*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCTGCCCTCTACGCTGATG	0.577																																							uc003lue.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(4120-4122)GAG>TAG		FAT tumor suppressor 2 precursor							102.0	94.0	96.0					5																	150932774		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150932774C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4120G>T	5.37:g.150932774C>A	ENSP00000261800:p.Glu1374*					GM2A_uc011dcs.1_Intron	p.E1374*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	4133	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1374			Extracellular (Potential).|Cadherin 12.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.4120G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	44	10.785530	0.99467	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.38	5.38	0.77491	.	0.000000	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	11.5781	0.50875	0.0:0.9192:0.0:0.0808	.	.	.	.	X	1374	.	ENSP00000261800:E1374X	E	-	1	0	FAT2	150912967	1.000000	0.71417	0.964000	0.40570	0.931000	0.56810	5.649000	0.67936	2.524000	0.85096	0.561000	0.74099	GAG		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		11	41	1	0	3.07112e-06	0.000978	4.08734e-06	11	41				
GRIA1	2890	broad.mit.edu	37	5	153078460	153078460	+	Missense_Mutation	SNP	A	A	C	rs371219596		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:153078460A>C	ENST00000285900.5	+	10	1622	c.1279A>C	c.(1279-1281)Aat>Cat	p.N427H	GRIA1_ENST00000518142.1_Missense_Mutation_p.N347H|GRIA1_ENST00000521843.2_Missense_Mutation_p.N358H|GRIA1_ENST00000448073.4_Missense_Mutation_p.N437H|GRIA1_ENST00000518783.1_Missense_Mutation_p.N437H|GRIA1_ENST00000340592.5_Missense_Mutation_p.N427H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	427					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.N427H(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GAAGAACGCCAATCAGTTTGA	0.517																																							uc003lva.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1279-1281)AAT>CAT		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	A	HIS/ASN,HIS/ASN	0,4406		0,0,2203	134.0	115.0	121.0		1279,1279	5.2	1.0	5		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	68,68	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	benign,benign	427/907,427/907	153078460	1,13005	2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078460A>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1279A>C	5.37:g.153078460A>C	ENSP00000285900:p.Asn427His					GRIA1_uc003luy.3_Missense_Mutation_p.N427H|GRIA1_uc003luz.3_Missense_Mutation_p.N332H|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.N347H|GRIA1_uc011dcx.1_Missense_Mutation_p.N358H|GRIA1_uc011dcy.1_Missense_Mutation_p.N437H|GRIA1_uc011dcz.1_Missense_Mutation_p.N437H|GRIA1_uc010jia.1_Missense_Mutation_p.N407H	p.N427H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1644	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	427			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1279A>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712507	0.48517	0.0	1.16E-4	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.76839	1.12;1.12;-1.05;1.12;1.12;1.12;-1.05	5.25	5.25	0.73442	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.100054	0.64402	D	0.000001	T	0.71324	0.3326	N	0.24115	0.695	0.47819	D	0.999527	P;P;B;P;P;B	0.44281	0.831;0.831;0.001;0.831;0.474;0.001	P;P;B;P;B;B	0.49252	0.604;0.604;0.002;0.604;0.249;0.003	T	0.74426	-0.3669	10	0.72032	D	0.01	.	8.9906	0.36022	0.9171:0.0:0.0829:0.0	.	437;437;347;437;427;427	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	427;427;347;381;427;358;358;437;437	ENSP00000285900:N427H;ENSP00000427920:N347H;ENSP00000339343:N427H;ENSP00000427864:N358H;ENSP00000442108:N358H;ENSP00000428994:N437H;ENSP00000415569:N437H	ENSP00000285900:N427H	N	+	1	0	GRIA1	153058653	0.984000	0.35163	1.000000	0.80357	0.996000	0.88848	2.251000	0.43187	2.001000	0.58596	0.529000	0.55759	AAT		0.517	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			12	35	0	0	0	0.001855	0	12	35				
MAT2B	27430	broad.mit.edu	37	5	162939126	162939126	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:162939126G>T	ENST00000321757.6	+	2	321	c.182G>T	c.(181-183)aGa>aTa	p.R61I	MAT2B_ENST00000518095.1_Missense_Mutation_p.R61I|MAT2B_ENST00000280969.5_Missense_Mutation_p.R50I	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	61					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)	p.R50I(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	TGTGGTTTCAGAAGAGCAAGA	0.393																																							uc003lzk.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(181-183)AGA>ATA		methionine adenosyltransferase II, beta isoform	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						155.0	157.0	156.0					5																	162939126		2203	4300	6503	SO:0001583	missense	27430				extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	g.chr5:162939126G>T	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.182G>T	5.37:g.162939126G>T	ENSP00000325425:p.Arg61Ile					MAT2B_uc003lzj.2_Missense_Mutation_p.R50I|MAT2B_uc003lzl.1_Missense_Mutation_p.R61I	p.R61I	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	2	290	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	61					B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	ENST00000321757.6	37	c.182G>T	CCDS4365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.325181|4.325181	0.81580|0.81580	.|.	.|.	ENSG00000038274|ENSG00000038274	ENST00000415433|ENST00000280969;ENST00000518731;ENST00000321757;ENST00000518095	.|T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71	5.81|5.81	4.93|4.93	0.64822|0.64822	.|NAD(P)-binding domain (1);	.|0.206504	.|0.49305	.|D	.|0.000155	.|T	.|0.30230	.|0.0758	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.99999|0.99999	.|P;B;B	.|0.38597	.|0.639;0.264;0.422	.|B;B;B	.|0.32677	.|0.082;0.15;0.069	.|T	.|0.21109	.|-1.0255	.|10	0.33141|0.49607	T|T	0.24|0.09	.|.	15.289|15.289	0.73852|0.73852	0.0685:0.0:0.9315:0.0|0.0685:0.0:0.9315:0.0	.|.	.|61;61;50	.|Q9NZL9-3;Q9NZL9;Q9NZL9-2	.|.;MAT2B_HUMAN;.	X|I	8|50;50;61;61	.|ENSP00000280969:R50I;ENSP00000427987:R50I;ENSP00000325425:R61I;ENSP00000428046:R61I	ENSP00000411877:E8X|ENSP00000280969:R50I	E|R	+|+	1|2	0|0	MAT2B|MAT2B	162871704|162871704	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.974000|0.974000	0.67602|0.67602	4.261000|4.261000	0.58841|0.58841	2.746000|2.746000	0.94184|0.94184	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.393	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283		27	53	1	0	1.26454e-06	0.005443	1.7288e-06	27	53				
SPDL1	54908	broad.mit.edu	37	5	169028523	169028523	+	Missense_Mutation	SNP	G	G	T	rs143182474		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:169028523G>T	ENST00000265295.4	+	11	1843	c.1564G>T	c.(1564-1566)Gtg>Ttg	p.V522L		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.V522L(1)|p.V522M(1)									AAATCTGCCCGTGGATATGCA	0.428																																							uc003mae.3		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|liver(1)	2						c.(1564-1566)GTG>TTG		coiled-coil domain containing 99							83.0	81.0	82.0					5																	169028523		2203	4300	6503	SO:0001583	missense	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169028523G>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1564G>T	5.37:g.169028523G>T	ENSP00000265295:p.Val522Leu					CCDC99_uc010jjj.2_Missense_Mutation_p.V451L|CCDC99_uc011deq.1_Missense_Mutation_p.V339L|CCDC99_uc010jjk.2_Missense_Mutation_p.V248L	p.V522L	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1843	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	522						Missense_Mutation	SNP	ENST00000265295.4	37	c.1564G>T	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466899	0.26335	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.29142	1.58	5.81	-11.6	0.00059	.	1.949640	0.01743	N	0.029506	T	0.11707	0.0285	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.24941	-1.0146	10	0.16896	T	0.51	5.7423	16.6446	0.85173	0.1732:0.1975:0.6293:0.0	.	444;423;522	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	L	522;423	ENSP00000265295:V522L	ENSP00000265295:V522L	V	+	1	0	CCDC99	168961101	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-3.039000	0.00633	-2.646000	0.00426	-0.290000	0.09829	GTG		0.428	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		12	31	1	0	5.50884e-06	0.001368	7.18716e-06	12	31				
SPDL1	54908	broad.mit.edu	37	5	169028583	169028583	+	Missense_Mutation	SNP	G	G	C	rs575069914		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:169028583G>C	ENST00000265295.4	+	11	1903	c.1624G>C	c.(1624-1626)Gct>Cct	p.A542P		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.A542P(1)									TCCCGCTGACGCTGAGGCCTT	0.507																																							uc003mae.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(1624-1626)GCT>CCT		coiled-coil domain containing 99							57.0	51.0	53.0					5																	169028583		2203	4300	6503	SO:0001583	missense	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169028583G>C	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1624G>C	5.37:g.169028583G>C	ENSP00000265295:p.Ala542Pro					CCDC99_uc010jjj.2_Missense_Mutation_p.A471P|CCDC99_uc011deq.1_Missense_Mutation_p.A359P|CCDC99_uc010jjk.2_Missense_Mutation_p.A268P	p.A542P	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1903	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	542						Missense_Mutation	SNP	ENST00000265295.4	37	c.1624G>C	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	G	3.431	-0.116167	0.06881	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.32515	1.45	5.49	-11.0	0.00169	.	0.896552	0.09632	N	0.776128	T	0.11196	0.0273	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.11792	-1.0573	10	0.30078	T	0.28	0.914	2.4829	0.04592	0.3968:0.1566:0.3403:0.1063	.	464;443;542	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	P	542;443	ENSP00000265295:A542P	ENSP00000265295:A542P	A	+	1	0	CCDC99	168961161	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.474000	0.02337	-1.600000	0.01603	-1.433000	0.01084	GCT		0.507	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		7	25	0	0	0	0.00308	0	7	25				
CLK4	57396	broad.mit.edu	37	5	178030931	178030931	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:178030931G>A	ENST00000316308.4	-	12	1387	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R407C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AAATACTTGCGTTTTCTACAG	0.398																																							uc003mjf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1219-1221)CGC>TGC		CDC-like kinase 4							61.0	63.0	63.0					5																	178030931		2200	4299	6499	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178030931G>A	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1219C>T	5.37:g.178030931G>A	ENSP00000316948:p.Arg407Cys					CLK4_uc003mjg.1_Missense_Mutation_p.R371C|CLK4_uc010jku.1_Missense_Mutation_p.R227C|CLK4_uc003mjh.1_Missense_Mutation_p.R227C|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Intron|CLK4_uc011dgh.1_Missense_Mutation_p.R227C	p.R407C	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	12	1327	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	407			Protein kinase.			Missense_Mutation	SNP	ENST00000316308.4	37	c.1219C>T	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889346	0.72524	.	.	ENSG00000113240	ENST00000316308	T	0.66815	-0.23	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162994	0.53938	D	0.000042	T	0.76557	0.4004	L	0.60067	1.865	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.59357	0.856;0.856	T	0.79378	-0.1828	10	0.87932	D	0	.	16.2759	0.82642	0.0:0.0:1.0:0.0	.	407;407	B9EG64;Q9HAZ1	.;CLK4_HUMAN	C	407	ENSP00000316948:R407C	ENSP00000316948:R407C	R	-	1	0	CLK4	177963537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.673000	0.61604	2.420000	0.82092	0.591000	0.81541	CGC		0.398	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			10	18	0	0	0	0.001368	0	10	18				
RIPK1	8737	broad.mit.edu	37	6	3105950	3105950	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:3105950G>T	ENST00000259808.4	+	9	1539	c.1241G>T	c.(1240-1242)aGg>aTg	p.R414M	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.R414M|RIPK1_ENST00000541791.1_Missense_Mutation_p.R368M			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	414	Interaction with SQSTM1.|Poly-Arg.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.R414M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGGAGACGCAGGGTCTCCCAT	0.498																																							uc010jni.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(1)|skin(1)	5						c.(1240-1242)AGG>ATG		receptor (TNFRSF)-interacting serine-threonine							64.0	67.0	66.0					6																	3105950		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3105950G>T	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1241G>T	6.37:g.3105950G>T	ENSP00000259808:p.Arg414Met					RIPK1_uc003muv.3_Missense_Mutation_p.R251M|RIPK1_uc003muw.3_Missense_Mutation_p.R349M|RIPK1_uc011dhs.1_Missense_Mutation_p.R368M|RIPK1_uc003mux.2_Missense_Mutation_p.R414M	p.R414M	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			9	1473	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	414			Poly-Arg.|Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.1241G>T	CCDS4482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.808546|3.808546	0.70797|0.70797	.|.	.|.	ENSG00000137275|ENSG00000137275	ENST00000453483|ENST00000259808;ENST00000541791;ENST00000380409	.|T;T;T	.|0.78707	.|-1.2;-0.77;-1.2	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.247182	.|0.42172	.|D	.|0.000750	T|T	0.80319|0.80319	0.4601|0.4601	M|M	0.66939|0.66939	2.045|2.045	0.28942|0.28942	N|N	0.890941|0.890941	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.73380	.|0.98;0.956	T|T	0.76168|0.76168	-0.3058|-0.3058	6|10	0.62326|0.52906	D|T	0.03|0.07	-34.579|-34.579	9.5449|9.5449	0.39275|0.39275	0.195:0.0:0.805:0.0|0.195:0.0:0.805:0.0	.|.	.|368;414	.|Q13546-2;Q13546	.|.;RIPK1_HUMAN	W|M	45|414;368;414	.|ENSP00000259808:R414M;ENSP00000442294:R368M;ENSP00000369773:R414M	ENSP00000415981:G45W|ENSP00000259808:R414M	G|R	+|+	1|2	0|0	RIPK1|RIPK1	3050949|3050949	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	2.270000|2.270000	0.43355|0.43355	2.641000|2.641000	0.89580|0.89580	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.498	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		13	26	1	0	0.00010058	0.001368	0.000121128	13	26				
F13A1	2162	broad.mit.edu	37	6	6305623	6305623	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:6305623C>A	ENST00000264870.3	-	3	545	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	94					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D94Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTTCTGGGGTCATATGGACGA	0.493																																							uc003mwv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(280-282)GAC>TAC		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						219.0	173.0	189.0					6																	6305623		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6305623C>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.280G>T	6.37:g.6305623C>A	ENSP00000264870:p.Asp94Tyr					F13A1_uc011dib.1_Intron	p.D94Y	NM_000129	NP_000120	P00488	F13A_HUMAN			3	403	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	94					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.280G>T	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.35|15.35	2.806608|2.806608	0.50421|0.50421	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222|ENST00000451619	D;D|.	0.87412|.	-2.25;-2.25|.	5.48|5.48	1.63|1.63	0.23807|0.23807	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);|.	0.482604|.	0.24330|.	N|.	0.039477|.	T|T	0.28300|0.28300	0.0699|0.0699	M|M	0.76574|0.76574	2.34|2.34	0.23421|0.23421	N|N	0.997718|0.997718	D|.	0.56746|.	0.977|.	P|.	0.53988|.	0.739|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.72032|.	D|.	0.01|.	.|.	4.1956|4.1956	0.10441|0.10441	0.0:0.4969:0.1633:0.3398|0.0:0.4969:0.1633:0.3398	.|.	94|.	P00488|.	F13A_HUMAN|.	Y|I	94;94;132|118	ENSP00000264870:D94Y;ENSP00000413334:D94Y|.	ENSP00000264870:D94Y|.	D|M	-|-	1|3	0|0	F13A1|F13A1	6250622|6250622	0.013000|0.013000	0.17824|0.17824	0.051000|0.051000	0.19133|0.19133	0.711000|0.711000	0.40976|0.40976	-0.510000|-0.510000	0.06328|0.06328	0.260000|0.260000	0.21731|0.21731	0.585000|0.585000	0.79938|0.79938	GAC|ATG		0.493	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		20	43	1	0	1.64293e-13	0.00333	2.78476e-13	20	43				
HIVEP1	3096	broad.mit.edu	37	6	12161902	12161902	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:12161902G>A	ENST00000379388.2	+	8	7050	c.6718G>A	c.(6718-6720)Ggg>Agg	p.G2240R	HIVEP1_ENST00000541134.1_Missense_Mutation_p.G105R	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2240					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G2240R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTGCTTTTCTGGGGTACACAC	0.547																																							uc003nac.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6718-6720)GGG>AGG		human immunodeficiency virus type I enhancer							93.0	99.0	97.0					6																	12161902		2118	4249	6367	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161902G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6718G>A	6.37:g.12161902G>A	ENSP00000368698:p.Gly2240Arg					HIVEP1_uc011diq.1_RNA	p.G2240R	NM_002114	NP_002105	P15822	ZEP1_HUMAN			8	6897	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2240					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6718G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220448	0.58560	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.32272	2.96;1.46	5.91	5.04	0.67666	.	0.000000	0.36893	N	0.002350	T	0.34395	0.0896	M	0.76838	2.35	0.09310	N	0.999991	D	0.56968	0.978	P	0.54460	0.753	T	0.16364	-1.0405	10	0.30854	T	0.27	-18.786	13.691	0.62547	0.0721:0.0:0.9279:0.0	.	2240	P15822	ZEP1_HUMAN	R	2240;167;105;222	ENSP00000368698:G2240R;ENSP00000445617:G105R	ENSP00000368698:G2240R	G	+	1	0	HIVEP1	12269888	1.000000	0.71417	0.565000	0.28409	0.545000	0.35147	3.716000	0.54904	2.808000	0.96608	0.655000	0.94253	GGG		0.547	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		12	15	0	0	0	0.001368	0	12	15				
HIST1H2BH	8345	broad.mit.edu	37	6	26252218	26252218	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:26252218G>A	ENST00000356350.2	+	1	340	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	114					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E114K(2)|p.E114Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGCCGTGTCCGAGGGCACTAA	0.537																																							uc003nhh.2		NA																	3	Substitution - Missense(3)		large_intestine(1)|NS(1)|lung(1)	ovary(3)	3						c.(340-342)GAG>AAG		histone cluster 1, H2bh							63.0	68.0	66.0					6																	26252218		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252218G>A	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.340G>A	6.37:g.26252218G>A	ENSP00000348706:p.Glu114Lys					HIST1H3F_uc003nhg.1_5'Flank	p.E114K	NM_003524	NP_003515	Q93079	H2B1H_HUMAN			1	340	+			114					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.340G>A	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	16.28	3.079141	0.55753	.	.	ENSG00000197459	ENST00000356350	T	0.48201	0.82	4.65	3.78	0.43462	Histone-fold (2);	0.000000	0.40222	U	0.001155	T	0.30696	0.0773	M	0.78801	2.425	0.35286	D	0.781761	B	0.33299	0.407	B	0.23018	0.043	T	0.38908	-0.9639	10	0.52906	T	0.07	.	12.6473	0.56742	0.0824:0.0:0.9176:0.0	.	114	Q93079	H2B1H_HUMAN	K	114	ENSP00000348706:E114K	ENSP00000348706:E114K	E	+	1	0	HIST1H2BH	26360197	1.000000	0.71417	0.962000	0.40283	0.380000	0.30137	7.726000	0.84824	1.271000	0.44313	0.591000	0.81541	GAG		0.537	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		8	46	0	0	0	0.004482	0	8	46				
OR2J3	442186	broad.mit.edu	37	6	29080108	29080108	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:29080108G>T	ENST00000377169.1	+	1	441	c.441G>T	c.(439-441)ctG>ctT	p.L147L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L147L(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCCACCTGCTGGCTGTGGCTT	0.502																																							uc011dll.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(439-441)CTG>CTT		olfactory receptor, family 2, subfamily J,							333.0	356.0	348.0					6																	29080108		1383	2620	4003	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080108G>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.441G>T	6.37:g.29080108G>T							p.L147L	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	441	+			147			Helical; Name=4; (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.441G>T	CCDS43433.1																																																																																				0.502	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			75	92	1	0	6.86016e-32	0.00361	1.29551e-31	75	92				
OR10C1	442194	broad.mit.edu	37	6	29407951	29407951	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:29407951C>T	ENST00000444197.2	+	1	869	c.159C>T	c.(157-159)gcC>gcT	p.A53A	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A53A(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGATGCTGCCCTCCAGTCCC	0.562																																							uc011dlp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)GCC>GCT		olfactory receptor, family 10, subfamily C,							195.0	164.0	175.0					6																	29407951		1511	2708	4219	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407951C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.159C>T	6.37:g.29407951C>T						OR11A1_uc010jrh.1_Intron	p.A53A	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	159	+			53			Cytoplasmic (Potential).		Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.159C>T	CCDS34364.1																																																																																				0.562	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			24	55	0	0	0	0.003954	0	24	55				
DDX39B	7919	broad.mit.edu	37	6	31500659	31500659	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:31500659C>A	ENST00000396172.1	-	7	1395	c.765G>T	c.(763-765)acG>acT	p.T255T	DDX39B_ENST00000376177.2_Silent_p.T255T|DDX39B_ENST00000415382.2_Silent_p.T177T|DDX39B_ENST00000462421.1_5'Flank|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Silent_p.T270T|DDX39B_ENST00000458640.1_Silent_p.T255T	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	255					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.T255T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGTCAACTTCGTCTCATCAT	0.572																																							uc003ntt.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)ACG>ACT		HLA-B associated transcript 1							86.0	73.0	78.0					6																	31500659		1511	2709	4220	SO:0001819	synonymous_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31500659C>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.765G>T	6.37:g.31500659C>A						BAT1_uc003ntq.2_5'Flank|BAT1_uc003ntr.2_Silent_p.T62T|BAT1_uc003nts.2_Silent_p.T255T|BAT1_uc011dnn.1_Silent_p.T177T|BAT1_uc003ntu.2_Silent_p.T255T|BAT1_uc003ntv.2_Silent_p.T255T	p.T255T	NM_004640	NP_004631	Q13838	DX39B_HUMAN			7	1396	-			255					B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	c.765G>T	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	C	9.925	1.213162	0.22289	.	.	ENSG00000198563	ENST00000417023	.	.	.	5.46	1.41	0.22369	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42310	-0.9459	4	.	.	.	-13.5185	11.5351	0.50633	0.1317:0.3283:0.54:0.0	.	.	.	.	L	19	.	.	R	-	2	0	DDX39B	31608638	0.999000	0.42202	0.998000	0.56505	0.999000	0.98932	0.425000	0.21346	-0.027000	0.13873	0.655000	0.94253	CGA		0.572	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		3	24	1	0	5.9392e-07	0.001168	8.25141e-07	3	24				
NOTCH4	4855	broad.mit.edu	37	6	32188337	32188337	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:32188337G>C	ENST00000375023.3	-	6	1142	c.1004C>G	c.(1003-1005)tCt>tGt	p.S335C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	335	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.S335C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCTACCAGCAGAGTTCTGGCA	0.622																																							uc003obb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(1003-1005)TCT>TGT		notch4 preproprotein							83.0	82.0	82.0					6																	32188337		1511	2709	4220	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188337G>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1004C>G	6.37:g.32188337G>C	ENSP00000364163:p.Ser335Cys					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.S335C	p.S335C	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			6	1143	-			335			EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1004C>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729180	0.69074	.	.	ENSG00000204301	ENST00000375023	D	0.94723	-3.5	4.69	4.69	0.59074	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.459384	0.16283	N	0.221279	D	0.96833	0.8966	M	0.84326	2.69	0.80722	D	1	D;P	0.76494	0.999;0.801	D;P	0.72075	0.976;0.536	D	0.96734	0.9541	10	0.54805	T	0.06	.	15.1537	0.72723	0.0:0.0:1.0:0.0	.	335;335	Q6P3V5;Q99466	.;NOTC4_HUMAN	C	335	ENSP00000364163:S335C	ENSP00000364163:S335C	S	-	2	0	NOTCH4	32296315	1.000000	0.71417	0.882000	0.34594	0.806000	0.45545	3.281000	0.51685	2.428000	0.82296	0.491000	0.48974	TCT		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			18	46	0	0	0	0.001882	0	18	46				
HLA-DRA	3122	broad.mit.edu	37	6	32411630	32411630	+	Missense_Mutation	SNP	C	C	G	rs58547911	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:32411630C>G	ENST00000374982.5	+	4	706	c.633C>G	c.(631-633)atC>atG	p.I211M	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.I236M			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	236	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.I236M(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TTGGGACCATCTTCATCATCA	0.537									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																														uc003obh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(706-708)ATC>ATG		major histocompatibility complex, class II, DR							156.0	145.0	149.0					6																	32411630		1511	2709	4220	SO:0001583	missense	3122	T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|KaposSarcoma_Familial_Clustering_of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32411630C>G		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.633C>G	6.37:g.32411630C>G	ENSP00000364121:p.Ile211Met					HLA-DRA_uc003obi.2_Missense_Mutation_p.I211M	p.I236M	NM_019111	NP_061984	P01903	DRA_HUMAN			4	789	+			236			Helical; (Potential).		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.708C>G		.	.	.	.	.	.	.	.	.	.	.	10.75	1.437263	0.25900	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01981	4.52;4.8	5.36	1.51	0.23008	.	0.440036	0.26780	N	0.022538	T	0.02047	0.0064	M	0.71871	2.18	0.09310	N	1	P;P	0.45902	0.868;0.865	P;P	0.51866	0.534;0.682	T	0.41378	-0.9512	10	0.49607	T	0.09	.	5.2159	0.15342	0.0:0.5975:0.1492:0.2533	.	211;236	Q30118;P01903	.;DRA_HUMAN	M	236;211	ENSP00000378786:I236M;ENSP00000364121:I211M	ENSP00000364121:I211M	I	+	3	3	HLA-DRA	32519608	0.032000	0.19561	0.098000	0.21074	0.172000	0.22775	0.692000	0.25482	0.387000	0.25024	0.573000	0.79308	ATC		0.537	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		38	46	0	0	0	0.003755	0	38	46				
SRPK1	6732	broad.mit.edu	37	6	35810348	35810348	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:35810348C>G	ENST00000373825.2	-	14	1939	c.1654G>C	c.(1654-1656)Gaa>Caa	p.E552Q	SRPK1_ENST00000423325.2_Missense_Mutation_p.E536Q|SRPK1_ENST00000373822.1_Missense_Mutation_p.E444Q					SRSF protein kinase 1									p.E551Q(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GAATGAGGTTCAAACAAATAG	0.418																																					NSCLC(31;67 978 16289 24856 26454)	NSCLC(31;67 978 16289 24856 26454)	uc003olj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1654-1656)GAA>CAA		SFRS protein kinase 1							79.0	73.0	75.0					6																	35810348		1904	4127	6031	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35810348C>G	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1654G>C	6.37:g.35810348C>G	ENSP00000362931:p.Glu552Gln					SRPK1_uc011dtg.1_Missense_Mutation_p.E536Q|SRPK1_uc003olh.2_Missense_Mutation_p.E445Q|SRPK1_uc003oli.2_Missense_Mutation_p.E445Q	p.E552Q	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			14	1777	-			552			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.1654G>C	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952620	0.92660	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.60728	0.2291	N	0.16098	0.37	0.80722	D	1	D;D	0.65815	0.99;0.995	D;D	0.77557	0.961;0.99	T	0.69982	-0.4997	9	0.87932	D	0	-17.1778	19.0463	0.93020	0.0:1.0:0.0:0.0	.	536;552	B4DS61;Q96SB4	.;SRPK1_HUMAN	Q	552;568;536;444	ENSP00000362931:E552Q;ENSP00000354674:E568Q;ENSP00000391069:E536Q;ENSP00000362928:E444Q	ENSP00000354674:E568Q	E	-	1	0	SRPK1	35918326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.572000	0.86782	0.491000	0.48974	GAA		0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		5	15	0	0	0	0.001168	0	5	15				
KIF6	221458	broad.mit.edu	37	6	39387722	39387722	+	Splice_Site	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:39387722A>T	ENST00000287152.7	-	15	1905		c.e15+1		KIF6_ENST00000538893.1_Splice_Site|KIF6_ENST00000373215.3_Splice_Site|KIF6_ENST00000394362.1_Splice_Site|KIF6_ENST00000541946.1_Splice_Site|KIF6_ENST00000229913.5_Splice_Site|KIF6_ENST00000373213.4_Splice_Site|KIF6_ENST00000373216.3_Splice_Site	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCATCTGCTTACCAATTTTAC	0.413																																							uc003oot.2		NA																	2	Unknown(2)		lung(2)	breast(2)|central_nervous_system(1)	3						c.e15+1		kinesin family member 6							132.0	130.0	131.0					6																	39387722		2203	4300	6503	SO:0001630	splice_region_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39387722A>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1810+1T>A	6.37:g.39387722A>T						KIF6_uc003oos.2_Splice_Site_p.G55_splice|KIF6_uc010jwz.1_Splice_Site|KIF6_uc010jxa.1_Splice_Site_p.G395_splice|KIF6_uc011dua.1_Splice_Site_p.G604_splice|KIF6_uc010jxb.1_Splice_Site_p.G548_splice	p.G604_splice	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			15	1905	-								Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Splice_Site	SNP	ENST00000287152.7	37	c.1810_splice	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811443	0.70797	.	.	ENSG00000164627	ENST00000287152;ENST00000458470;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946;ENST00000540362	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5086	0.50481	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF6	39495700	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.918000	0.56432	2.209000	0.71365	0.482000	0.46254	.		0.413	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027	Intron	26	31	0	0	0	0.004656	0	26	31				
TBCC	6903	broad.mit.edu	37	6	42713641	42713641	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:42713641G>T	ENST00000372876.1	-	1	193	c.171C>A	c.(169-171)agC>agA	p.S57R	TBCC_ENST00000244625.2_Missense_Mutation_p.S57R	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	57					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.S57R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CGAAAAAGTGGCTGTTCTCCT	0.617																																							uc003osl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(169-171)AGC>AGA		beta-tubulin cofactor C							84.0	78.0	80.0					6																	42713641		2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713641G>T	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.171C>A	6.37:g.42713641G>T	ENSP00000361967:p.Ser57Arg						p.S57R	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	244	-	Colorectal(47;0.196)		57					Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.171C>A	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470002	0.26423	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.15017	2.46;2.46	5.03	5.03	0.67393	.	0.090008	0.85682	D	0.000000	T	0.11623	0.0283	L	0.50333	1.59	0.58432	D	0.999999	B	0.18013	0.025	B	0.20577	0.03	T	0.02713	-1.1120	10	0.52906	T	0.07	-5.6056	18.3311	0.90270	0.0:0.0:1.0:0.0	.	57	Q15814	TBCC_HUMAN	R	57	ENSP00000361967:S57R;ENSP00000244625:S57R	ENSP00000244625:S57R	S	-	3	2	TBCC	42821619	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	2.723000	0.47277	2.500000	0.84329	0.557000	0.71058	AGC		0.617	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		11	28	1	0	2.27111e-07	0.001368	3.21042e-07	11	28				
ABCC10	89845	broad.mit.edu	37	6	43417772	43417772	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:43417772C>A	ENST00000372530.4	+	22	4637	c.4422C>A	c.(4420-4422)ttC>ttA	p.F1474L	ABCC10_ENST00000244533.3_Missense_Mutation_p.F1446L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1474	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.F1446L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	ACTCCCTGTTCCAGCAGCTGC	0.642																																							uc003ouy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(4420-4422)TTC>TTA		ATP-binding cassette, sub-family C, member 10							55.0	61.0	59.0					6																	43417772		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43417772C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4422C>A	6.37:g.43417772C>A	ENSP00000361608:p.Phe1474Leu					ABCC10_uc003ouz.1_Missense_Mutation_p.F1446L|ABCC10_uc010jyo.1_Missense_Mutation_p.F580L	p.F1474L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		22	4637	+	all_lung(25;0.00536)		1474			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.4422C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975511	0.53720	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394;ENST00000505344	D;D;D	0.91631	-2.88;-2.88;-2.88	5.5	3.71	0.42584	ABC transporter-like (1);	0.123353	0.53938	D	0.000044	T	0.78717	0.4327	L	0.45285	1.41	0.53688	D	0.999972	B;B	0.28350	0.208;0.132	B;B	0.22152	0.038;0.017	T	0.75422	-0.3323	10	0.48119	T	0.1	-17.1484	5.7263	0.18015	0.1325:0.6063:0.0:0.2612	.	1446;1474	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	L	1474;1446;230;111	ENSP00000361608:F1474L;ENSP00000244533:F1446L;ENSP00000422699:F111L	ENSP00000244533:F1446L	F	+	3	2	ABCC10	43525750	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	1.039000	0.30266	0.682000	0.31407	0.555000	0.69702	TTC		0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		11	64	1	0	5.50884e-06	0.001368	7.18716e-06	11	64				
CAPN11	11131	broad.mit.edu	37	6	44144383	44144383	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:44144383G>T	ENST00000398776.1	+	10	1105	c.1067G>T	c.(1066-1068)gGg>gTg	p.G356V	CAPN11_ENST00000542245.1_Missense_Mutation_p.G356V	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	356	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.G356V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGGAGGACGGGGAGTTCTGG	0.632																																							uc003owt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1066-1068)GGG>GTG		calpain 11							92.0	109.0	103.0					6																	44144383		2099	4229	6328	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144383G>T	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1067G>T	6.37:g.44144383G>T	ENSP00000381758:p.Gly356Val					CAPN11_uc011dvn.1_Missense_Mutation_p.G10V	p.G356V	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1105	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		356			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1067G>T	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365829	0.61513	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.99298	-5.71;-5.71	4.57	4.57	0.56435	Peptidase C2, calpain, catalytic domain (3);	0.291867	0.24947	N	0.034335	D	0.99822	0.9921	H	0.99942	5.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96462	0.9342	10	0.87932	D	0	.	16.5829	0.84719	0.0:0.0:1.0:0.0	.	10;356	B4DT90;Q9UMQ6	.;CAN11_HUMAN	V	356	ENSP00000381758:G356V;ENSP00000441078:G356V	ENSP00000381758:G356V	G	+	2	0	CAPN11	44252361	1.000000	0.71417	0.646000	0.29493	0.259000	0.26198	7.417000	0.80156	2.405000	0.81733	0.543000	0.68304	GGG		0.632	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			11	24	1	0	1.05317e-09	0.00245	1.64883e-09	11	24				
DEFB114	245928	broad.mit.edu	37	6	49928016	49928016	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:49928016C>T	ENST00000322066.3	-	2	198	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	67					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)	p.D67N(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					CAAAACATATCATCTTCTTCA	0.358																																							uc011dwp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)GAT>AAT		beta-defensin 114 precursor							90.0	83.0	85.0					6																	49928016		2203	4299	6502	SO:0001583	missense	245928				defense response to bacterium	extracellular region		g.chr6:49928016C>T	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.199G>A	6.37:g.49928016C>T	ENSP00000312702:p.Asp67Asn						p.D67N	NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN			2	199	-	Lung NSC(77;0.042)		67					Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	c.199G>A	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	C	3.904	-0.021387	0.07634	.	.	ENSG00000177684	ENST00000322066	.	.	.	3.42	-6.19	0.02078	.	.	.	.	.	T	0.04679	0.0127	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32534	-0.9903	6	.	.	.	.	3.0525	0.06174	0.1874:0.4848:0.2066:0.1213	.	67	Q30KQ6	DB114_HUMAN	N	67	.	.	D	-	1	0	DEFB114	50035975	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.166000	0.03129	-1.218000	0.02601	-2.299000	0.00261	GAT		0.358	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		10	24	0	0	0	0.008291	0	10	24				
IL17F	112744	broad.mit.edu	37	6	52103604	52103604	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:52103604C>A	ENST00000336123.4	-	2	285	c.178G>T	c.(178-180)Ggc>Tgc	p.G60C		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	60					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)	p.G60C(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTGATGATGCCAATGTCAAGC	0.493																																							uc003pam.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(178-180)GGC>TGC		interleukin 17F precursor							87.0	88.0	88.0					6																	52103604		2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52103604C>A	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.178G>T	6.37:g.52103604C>A	ENSP00000337432:p.Gly60Cys					IL17F_uc003pal.1_Missense_Mutation_p.G6C	p.G60C	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN			2	249	-	Lung NSC(77;0.116)		60					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.178G>T	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474145	0.26423	.	.	ENSG00000112116	ENST00000336123	T	0.56776	0.44	5.76	1.75	0.24633	.	0.522011	0.22701	N	0.056687	T	0.19967	0.0480	N	0.14661	0.345	0.09310	N	0.999999	P	0.48350	0.909	P	0.46076	0.503	T	0.08207	-1.0733	10	0.59425	D	0.04	-15.2406	8.613	0.33815	0.0:0.1482:0.4281:0.4237	.	60	Q96PD4	IL17F_HUMAN	C	60	ENSP00000337432:G60C	ENSP00000337432:G60C	G	-	1	0	IL17F	52211563	0.063000	0.20901	0.478000	0.27316	0.001000	0.01503	0.423000	0.21313	0.088000	0.17205	-0.171000	0.13296	GGC		0.493	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		12	21	1	0	9.31168e-06	0.001855	1.20836e-05	12	21				
PHF3	23469	broad.mit.edu	37	6	64356528	64356528	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:64356528C>T	ENST00000262043.3	+	2	412	c.72C>T	c.(70-72)tcC>tcT	p.S24S	PHF3_ENST00000509330.1_Silent_p.S24S|PHF3_ENST00000393387.1_Silent_p.S24S			Q92576	PHF3_HUMAN	PHD finger protein 3	24					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S24S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTCTAGGATCCAACCTGGAGA	0.393																																					GBM(135;136 1820 29512 34071 46235)	GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(70-72)TCC>TCT		PHD finger protein 3							103.0	101.0	102.0					6																	64356528		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64356528C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.72C>T	6.37:g.64356528C>T						PHF3_uc010kaf.1_Silent_p.S24S|PHF3_uc003pem.2_5'UTR|PHF3_uc010kag.1_Intron|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_5'UTR|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Silent_p.S24S	p.S24S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		1	98	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		24					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.72C>T	CCDS4966.1																																																																																				0.393	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			19	50	0	0	0	0.010504	0	19	50				
COL19A1	1310	broad.mit.edu	37	6	70850878	70850878	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:70850878T>A	ENST00000322773.4	+	20	1581	c.1479T>A	c.(1477-1479)gaT>gaA	p.D493E	COL19A1_ENST00000393344.1_Missense_Mutation_p.D115E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	493	Collagen-like 4.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.D493E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAAAGGAGATAGAGTAAGTA	0.358																																							uc003pfc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1477-1479)GAT>GAA		alpha 1 type XIX collagen precursor							164.0	176.0	172.0					6																	70850878		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70850878T>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1479T>A	6.37:g.70850878T>A	ENSP00000316030:p.Asp493Glu					COL19A1_uc010kam.1_Missense_Mutation_p.D389E	p.D493E	NM_001858	NP_001849	Q14993	COJA1_HUMAN			20	1596	+			493			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1479T>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	9.053	0.992478	0.18966	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93488	-3.23;-3.23	4.73	-5.06	0.02946	.	0.422692	0.23069	N	0.052298	T	0.68044	0.2958	N	0.25789	0.76	0.19575	N	0.999967	B	0.20887	0.049	B	0.26693	0.072	T	0.69375	-0.5162	10	0.02654	T	1	.	8.6551	0.34058	0.1301:0.5983:0.0:0.2716	.	493	Q14993	COJA1_HUMAN	E	493;115	ENSP00000316030:D493E;ENSP00000377013:D115E	ENSP00000316030:D493E	D	+	3	2	COL19A1	70907599	0.464000	0.25807	0.033000	0.17914	0.652000	0.38707	-0.313000	0.08103	-0.630000	0.05567	0.528000	0.53228	GAT		0.358	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			24	75	0	0	0	0.005443	0	24	75				
COL19A1	1310	broad.mit.edu	37	6	70890392	70890392	+	Missense_Mutation	SNP	C	C	A	rs369271643		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:70890392C>A	ENST00000322773.4	+	44	2854	c.2752C>A	c.(2752-2754)Cca>Aca	p.P918T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P540T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	918	Collagen-like 10.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.P918T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTCCCTGGACCAGAAGGACC	0.408																																							uc003pfc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(2752-2754)CCA>ACA		alpha 1 type XIX collagen precursor							149.0	149.0	149.0					6																	70890392		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70890392C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2752C>A	6.37:g.70890392C>A	ENSP00000316030:p.Pro918Thr						p.P918T	NM_001858	NP_001849	Q14993	COJA1_HUMAN			44	2869	+			918			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2752C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355446	0.61293	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.98666	-5.06;-1.81	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	D	0.98770	0.9586	M	0.81341	2.54	0.52501	D	0.999953	D	0.89917	1.0	D	0.91635	0.999	D	0.99960	1.1699	10	0.11182	T	0.66	.	17.591	0.87997	0.0:1.0:0.0:0.0	.	918	Q14993	COJA1_HUMAN	T	918;540	ENSP00000316030:P918T;ENSP00000377013:P540T	ENSP00000316030:P918T	P	+	1	0	COL19A1	70947113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.485000	0.53208	2.590000	0.87494	0.484000	0.47621	CCA		0.408	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			9	24	1	0	1.33987e-11	0.008291	2.20435e-11	9	24				
IMPG1	3617	broad.mit.edu	37	6	76744338	76744338	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:76744338C>T	ENST00000369950.3	-	3	657	c.468G>A	c.(466-468)caG>caA	p.Q156Q	IMPG1_ENST00000369963.3_Splice_Site_p.Q78Q	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.Q156Q(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTAGGCTCACCTGCTGGAGAA	0.502																																					Pancreas(37;839 1141 2599 26037)	Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(466-468)CAG>CAA		interphotoreceptor matrix proteoglycan 1							104.0	92.0	96.0					6																	76744338		2203	4300	6503	SO:0001630	splice_region_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744338C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.468+1G>A	6.37:g.76744338C>T							p.Q156Q	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			3	598	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	156						Silent	SNP	ENST00000369950.3	37	c.468G>A	CCDS4985.1																																																																																				0.502	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	Silent	11	30	0	0	0	0.001368	0	11	30				
MRAP2	112609	broad.mit.edu	37	6	84772676	84772676	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:84772676G>T	ENST00000257776.4	+	3	327	c.192G>T	c.(190-192)ctG>ctT	p.L64L		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	64					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.L64L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTTTGTGCTGACCTTGCTGA	0.413																																							uc003pkg.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(190-192)CTG>CTT		melanocortin 2 receptor accessory protein 2							228.0	204.0	212.0					6																	84772676		2203	4300	6503	SO:0001819	synonymous_variant	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84772676G>T	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.192G>T	6.37:g.84772676G>T						MRAP2_uc010kbo.2_Intron	p.L64L	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN			3	382	+			64					A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	ENST00000257776.4	37	c.192G>T	CCDS5001.1																																																																																				0.413	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		12	47	1	0	5.50884e-06	0.001368	7.18716e-06	12	47				
CGA	1081	broad.mit.edu	37	6	87796049	87796049	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:87796049T>A	ENST00000369582.2	-	3	292	c.192A>T	c.(190-192)ccA>ccT	p.P64P	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	64					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.P64P(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TGGACCTTAGTGGAGTGGGAT	0.502																																							uc003plj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(190-192)CCA>CCT		glycoprotein hormones, alpha polypeptide							176.0	174.0	175.0					6																	87796049		2203	4300	6503	SO:0001819	synonymous_variant	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796049T>A	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.192A>T	6.37:g.87796049T>A							p.P64P	NM_000735	NP_000726	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	293	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	64						Silent	SNP	ENST00000369582.2	37	c.192A>T	CCDS5007.1																																																																																				0.502	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		18	87	0	0	0	0.007413	0	18	87				
GABRR1	2569	broad.mit.edu	37	6	89888660	89888660	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:89888660C>A	ENST00000454853.2	-	10	1379	c.1269G>T	c.(1267-1269)atG>atT	p.M423I	GABRR1_ENST00000435811.1_Missense_Mutation_p.M406I|GABRR1_ENST00000369451.3_Missense_Mutation_p.M336I	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	423					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|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)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.M417I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	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)	GCTGCACCATCATCCTGTCGG	0.562																																							uc003pna.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1267-1269)ATG>ATT		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						191.0	172.0	179.0					6																	89888660		2203	4300	6503	SO:0001583	missense	2569				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.chr6:89888660C>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1269G>T	6.37:g.89888660C>A	ENSP00000412673:p.Met423Ile					GABRR1_uc011dzv.1_Missense_Mutation_p.M400I	p.M423I	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	10	1724	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	423			Cytoplasmic (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.1269G>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616431	0.28801	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.83335	-1.71;-1.71;-1.71	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.111317	0.85682	D	0.000000	T	0.54647	0.1871	N	0.11131	0.1	0.44067	D	0.99681	B;B	0.06786	0.001;0.001	B;B	0.11329	0.005;0.006	T	0.54370	-0.8304	9	.	.	.	-44.7276	15.2356	0.73427	0.0:0.86:0.14:0.0	.	406;423	P24046-2;P24046	.;GBRR1_HUMAN	I	423;406;336;336	ENSP00000412673:M423I;ENSP00000394687:M406I;ENSP00000358463:M336I	.	M	-	3	0	GABRR1	89945379	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.099000	0.31013	2.646000	0.89796	0.655000	0.94253	ATG		0.562	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			20	58	1	0	8.04996e-18	0.001882	1.4578e-17	20	58				
SIM1	6492	broad.mit.edu	37	6	100898177	100898177	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:100898177G>A	ENST00000369208.3	-	4	1096	c.314C>T	c.(313-315)tCa>tTa	p.S105L	SIM1_ENST00000262901.4_Missense_Mutation_p.S105L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	105	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S105L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCTGTCTCTGAGATGTACAT	0.542																																							uc003pqj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(313-315)TCA>TTA		single-minded homolog 1							180.0	163.0	168.0					6																	100898177		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100898177G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.314C>T	6.37:g.100898177G>A	ENSP00000358210:p.Ser105Leu					SIM1_uc010kcu.2_Missense_Mutation_p.S105L	p.S105L	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	3	521	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	105			PAS 1.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.314C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310749	0.95629	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.22539	1.95;1.95	4.99	4.99	0.66335	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78871	-0.2033	10	0.87932	D	0	.	18.2737	0.90076	0.0:0.0:1.0:0.0	.	105	P81133	SIM1_HUMAN	L	105	ENSP00000358210:S105L;ENSP00000262901:S105L	ENSP00000262901:S105L	S	-	2	0	SIM1	101004898	1.000000	0.71417	0.993000	0.49108	0.964000	0.63967	9.444000	0.97578	2.326000	0.78906	0.561000	0.74099	TCA		0.542	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		23	82	0	0	0	0.00632	0	23	82				
ASCC3	10973	broad.mit.edu	37	6	100964152	100964152	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:100964152G>T	ENST00000369162.2	-	39	6323	c.5979C>A	c.(5977-5979)atC>atA	p.I1993I		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1993	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.I1993I(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAAGGGACTCGATGGAGGTCC	0.448																																							uc003pqk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(5977-5979)ATC>ATA		activating signal cointegrator 1 complex subunit							124.0	120.0	122.0					6																	100964152		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:100964152G>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5979C>A	6.37:g.100964152G>T							p.I1993I	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	39	6308	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1993					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.5979C>A	CCDS5046.1																																																																																				0.448	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		16	47	1	0	1.15088e-07	0.004007	1.64282e-07	16	47				
RFPL4B	442247	broad.mit.edu	37	6	112671283	112671283	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:112671283G>T	ENST00000441065.2	+	3	685	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	125	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D125Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GATCCACCACGATCTGACAAA	0.542																																							uc003pvx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(373-375)GAT>TAT		ret finger protein-like 4B							72.0	75.0	74.0					6																	112671283		2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671283G>T	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.373G>T	6.37:g.112671283G>T	ENSP00000423391:p.Asp125Tyr						p.D125Y	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	685	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	125			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.373G>T	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	G	8.372	0.835580	0.16820	.	.	ENSG00000251258	ENST00000441065	T	0.61859	0.07	4.04	-1.26	0.09376	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	1.740060	0.03871	N	0.275586	T	0.35248	0.0925	M	0.85299	2.745	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22800	-1.0206	10	0.46703	T	0.11	.	0.9293	0.01331	0.418:0.1579:0.2697:0.1543	.	125	Q6ZWI9	RFPLB_HUMAN	Y	125	ENSP00000423391:D125Y	ENSP00000423391:D125Y	D	+	1	0	RFPL4B	112777976	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.004000	0.12878	-0.202000	0.10268	-0.150000	0.13652	GAT		0.542	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		12	38	1	0	0.000219431	0.00245	0.000260597	12	38				
FAM26E	254228	broad.mit.edu	37	6	116837003	116837003	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:116837003G>T	ENST00000368599.3	+	2	832	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	261					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A261S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TACGTTTGCTGCCTGGGAGGC	0.483																																							uc003pwy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(781-783)GCC>TCC		hypothetical protein LOC254228							111.0	103.0	106.0					6																	116837003		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116837003G>T	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.781G>T	6.37:g.116837003G>T	ENSP00000357588:p.Ala261Ser					BET3L_uc011ebh.1_Intron	p.A261S	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	2	833	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	261					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.781G>T	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484538	0.84854	.	.	ENSG00000178033	ENST00000368599	T	0.18657	2.2	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01039	-1.1472	10	0.13853	T	0.58	-2.1509	19.5548	0.95338	0.0:0.0:1.0:0.0	.	261	Q8N5C1	FA26E_HUMAN	S	261	ENSP00000357588:A261S	ENSP00000357588:A261S	A	+	1	0	FAM26E	116943696	1.000000	0.71417	0.982000	0.44146	0.842000	0.47809	7.246000	0.78247	2.854000	0.98071	0.655000	0.94253	GCC		0.483	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		9	40	1	0	0.000274275	0.004482	0.000319476	9	40				
RFX6	222546	broad.mit.edu	37	6	117244365	117244365	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:117244365C>A	ENST00000332958.2	+	14	1549	c.1533C>A	c.(1531-1533)acC>acA	p.T511T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	511					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.T511T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ATAATCTCACCTTGAACAATG	0.343																																							uc003pxm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1531-1533)ACC>ACA		regulatory factor X, 6							150.0	139.0	142.0					6																	117244365		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117244365C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1533C>A	6.37:g.117244365C>A							p.T511T	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			14	1596	+			511					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.1533C>A	CCDS5113.1																																																																																				0.343	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		18	45	1	0	4.96729e-08	0.008871	7.26872e-08	18	45				
PTPRK	5796	broad.mit.edu	37	6	128294835	128294835	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:128294835C>A	ENST00000368215.3	-	28	4103	c.4104G>T	c.(4102-4104)ggG>ggT	p.G1368G	PTPRK_ENST00000532331.1_Silent_p.G1391G|PTPRK_ENST00000368210.3_Silent_p.G1387G|PTPRK_ENST00000368213.5_Silent_p.G1375G|PTPRK_ENST00000368226.4_Silent_p.G1369G|PTPRK_ENST00000368227.3_Silent_p.G1386G|PTPRK_ENST00000368207.3_Silent_p.G1401G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1368	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1369G(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCCGGCCTTCCCCTTCCTCGC	0.483																																							uc003qbk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(4102-4104)GGG>GGT		protein tyrosine phosphatase, receptor type, K							123.0	107.0	112.0					6																	128294835		2203	4300	6503	SO:0001819	synonymous_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128294835C>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4104G>T	6.37:g.128294835C>A						PTPRK_uc003qbj.2_Silent_p.G1369G|PTPRK_uc010kfc.2_Silent_p.G1375G|PTPRK_uc011ebu.1_Silent_p.G1391G	p.G1368G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	28	4471	-			1368			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37	c.4104G>T																																																																																					0.483	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			15	34	1	0	2.32078e-09	0.003163	3.57952e-09	15	34				
LAMA2	3908	broad.mit.edu	37	6	129513901	129513901	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:129513901A>G	ENST00000421865.2	+	12	1734	c.1685A>G	c.(1684-1686)gAc>gGc	p.D562G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	562	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.D562G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACGACTTGGACTCACCTCAG	0.557																																							uc003qbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(1684-1686)GAC>GGC		laminin alpha 2 subunit isoform a precursor							59.0	58.0	59.0					6																	129513901		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129513901A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1685A>G	6.37:g.129513901A>G	ENSP00000400365:p.Asp562Gly					LAMA2_uc003qbo.2_Missense_Mutation_p.D562G	p.D562G	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	12	1790	+			562			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1685A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	0.849	-0.739224	0.03088	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.32988	1.43	5.28	1.36	0.22044	Laminin B type IV (1);	1.293710	0.05353	N	0.532311	T	0.06188	0.0160	L	0.33753	1.03	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28170	-1.0052	10	0.07482	T	0.82	.	5.5838	0.17264	0.6781:0.0:0.2048:0.117	.	562;562	A6NF00;P24043	.;LAMA2_HUMAN	G	562	ENSP00000400365:D562G	ENSP00000346769:D562G	D	+	2	0	LAMA2	129555594	0.070000	0.21116	0.000000	0.03702	0.010000	0.07245	1.046000	0.30354	0.288000	0.22398	0.477000	0.44152	GAC		0.557	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			6	12	0	0	0	0.001168	0	6	12				
TMEM200A	114801	broad.mit.edu	37	6	130762366	130762366	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:130762366G>A	ENST00000296978.3	+	3	1670	c.799G>A	c.(799-801)Gat>Aat	p.D267N	TMEM200A_ENST00000392429.1_Missense_Mutation_p.D267N|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D267N	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	267						integral component of membrane (GO:0016021)		p.D267N(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACAACTGATGATAAGACCAG	0.433																																							uc003qca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(799-801)GAT>AAT		transmembrane protein 200A							109.0	107.0	107.0					6																	130762366		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762366G>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.799G>A	6.37:g.130762366G>A	ENSP00000296978:p.Asp267Asn					TMEM200A_uc010kfh.2_Missense_Mutation_p.D267N|TMEM200A_uc010kfi.2_Missense_Mutation_p.D267N|TMEM200A_uc003qcb.2_Missense_Mutation_p.D267N	p.D267N	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1670	+			267			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.799G>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595009	0.66219	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.216117	0.46758	D	0.000278	T	0.51295	0.1666	L	0.59436	1.845	0.58432	D	0.999999	P	0.34562	0.457	B	0.32624	0.149	T	0.53711	-0.8400	9	0.41790	T	0.15	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	267	Q86VY9	T200A_HUMAN	N	267	.	ENSP00000296978:D267N	D	+	1	0	TMEM200A	130804059	1.000000	0.71417	0.123000	0.21794	0.275000	0.26752	7.409000	0.80053	2.805000	0.96524	0.655000	0.94253	GAT		0.433	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		16	38	0	0	0	0.007413	0	16	38				
BCLAF1	9774	broad.mit.edu	37	6	136599485	136599485	+	Silent	SNP	C	C	A	rs369195148		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:136599485C>A	ENST00000531224.1	-	4	786	c.534G>T	c.(532-534)ccG>ccT	p.P178P	BCLAF1_ENST00000353331.4_Silent_p.P176P|BCLAF1_ENST00000527759.1_Silent_p.P176P|BCLAF1_ENST00000392348.2_Silent_p.P176P|BCLAF1_ENST00000530767.1_Silent_p.P178P|BCLAF1_ENST00000527536.1_Silent_p.P178P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	178					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P178P(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TACTTTTCAACGGACTCTCTT	0.413																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(532-534)CCG>CCT		BCL2-associated transcription factor 1 isoform							220.0	221.0	221.0					6																	136599485		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599485C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.534G>T	6.37:g.136599485C>A						BCLAF1_uc003qgw.1_Silent_p.P178P|BCLAF1_uc003qgy.1_Silent_p.P176P|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.P176P	p.P178P	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	787	-	Colorectal(23;0.24)		178					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.534G>T	CCDS5177.1																																																																																				0.413	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		19	164	1	0	2.35188e-11	0.006122	3.84757e-11	19	164				
BCLAF1	9774	broad.mit.edu	37	6	136600958	136600958	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:136600958C>A	ENST00000531224.1	-	3	299	c.47G>T	c.(46-48)aGa>aTa	p.R16I	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R16I|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R16I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R16I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R16I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R16I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	16					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R16I(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGACTGTGATCTAGACTTTGA	0.313																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)AGA>ATA		BCL2-associated transcription factor 1 isoform							86.0	78.0	81.0					6																	136600958		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136600958C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.47G>T	6.37:g.136600958C>A	ENSP00000435210:p.Arg16Ile					BCLAF1_uc003qgw.1_Missense_Mutation_p.R16I|BCLAF1_uc003qgy.1_Missense_Mutation_p.R16I|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R16I	p.R16I	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	300	-	Colorectal(23;0.24)		16					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.47G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412747	0.62511	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.19394	2.56;2.5;2.51;2.15;2.55;2.5;2.34	5.67	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.14141	0.0342	L	0.52573	1.65	0.80722	D	1	B;P;B;P	0.35656	0.226;0.514;0.226;0.514	B;B;B;B	0.38194	0.178;0.178;0.178;0.267	T	0.02588	-1.1137	10	0.87932	D	0	-6.5835	14.9303	0.70908	0.0:0.9311:0.0:0.0689	.	16;16;16;16	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	I	16	ENSP00000435210:R16I;ENSP00000229446:R16I;ENSP00000435441:R16I;ENSP00000436501:R16I;ENSP00000434826:R16I;ENSP00000376159:R16I;ENSP00000431734:R16I	ENSP00000229446:R16I	R	-	2	0	BCLAF1	136642651	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.003000	0.57061	1.542000	0.49330	-0.237000	0.12165	AGA		0.313	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		8	48	1	0	0.000442599	0.006214	0.000512261	8	48				
UTRN	7402	broad.mit.edu	37	6	144757093	144757093	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:144757093A>T	ENST00000367545.3	+	9	878	c.878A>T	c.(877-879)cAt>cTt	p.H293L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	293	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.H293L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGGAGGAGCATGAGAGTCCC	0.493																																							uc003qkt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(877-879)CAT>CTT		utrophin							89.0	79.0	83.0					6																	144757093		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144757093A>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.878A>T	6.37:g.144757093A>T	ENSP00000356515:p.His293Leu					UTRN_uc010khq.1_Missense_Mutation_p.H293L	p.H293L	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	9	970	+		Ovarian(120;0.218)	293			Interaction with SYNM.|Spectrin 1.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.878A>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	5.658	0.305955	0.10733	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.58506	0.33	5.67	-6.3	0.02007	.	1.359280	0.04791	N	0.431756	T	0.16171	0.0389	N	0.22421	0.69	0.09310	N	0.999999	B	0.15719	0.014	B	0.12837	0.008	T	0.07462	-1.0771	10	0.13108	T	0.6	.	10.5748	0.45221	0.7074:0.0878:0.2048:0.0	.	293	P46939	UTRO_HUMAN	L	293	ENSP00000356515:H293L	ENSP00000356499:H293L	H	+	2	0	UTRN	144798786	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.228000	0.09114	-1.062000	0.03181	-0.904000	0.02843	CAT		0.493	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			8	14	0	0	0	0.004482	0	8	14				
SHPRH	257218	broad.mit.edu	37	6	146275911	146275911	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:146275911C>T	ENST00000367505.2	-	2	812	c.548G>A	c.(547-549)gGt>gAt	p.G183D	SHPRH_ENST00000438092.2_Missense_Mutation_p.G183D|SHPRH_ENST00000367503.3_Missense_Mutation_p.G183D|SHPRH_ENST00000275233.7_Missense_Mutation_p.G183D			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	183					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G183D(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAACATTTCACCACTGAAGGA	0.358																																							uc003qlf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(547-549)GGT>GAT		SNF2 histone linker PHD RING helicase isoform a							119.0	112.0	114.0					6																	146275911		1837	4102	5939	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146275911C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.548G>A	6.37:g.146275911C>T	ENSP00000356475:p.Gly183Asp					SHPRH_uc003qld.2_Missense_Mutation_p.G183D|SHPRH_uc003qle.2_Missense_Mutation_p.G183D|SHPRH_uc003qlg.1_Translation_Start_Site|SHPRH_uc003qlj.1_Missense_Mutation_p.G72D|SHPRH_uc003qlk.1_Missense_Mutation_p.G183D	p.G183D	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	947	-		Ovarian(120;0.0365)	183					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.548G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	5.792	0.330499	0.10956	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.66	1.84	0.25277	.	0.784442	0.11390	N	0.568975	T	0.24353	0.0590	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.30236	0.0;0.059;0.098;0.274	B;B;B;B	0.29785	0.002;0.05;0.107;0.079	T	0.15983	-1.0418	10	0.27082	T	0.32	-0.2299	6.2793	0.20999	0.0:0.553:0.1175:0.3295	.	72;183;183;72	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	D	183;183;183;183;72	ENSP00000356475:G183D;ENSP00000356473:G183D;ENSP00000412797:G183D;ENSP00000275233:G183D	ENSP00000275233:G183D	G	-	2	0	SHPRH	146317604	0.000000	0.05858	0.866000	0.34008	0.997000	0.91878	0.158000	0.16422	0.331000	0.23511	0.655000	0.94253	GGT		0.358	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		12	50	0	0	0	0.001855	0	12	50				
STXBP5	134957	broad.mit.edu	37	6	147680374	147680374	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:147680374G>T	ENST00000321680.6	+	23	2460	c.2460G>T	c.(2458-2460)acG>acT	p.T820T	STXBP5_ENST00000367481.3_Silent_p.T784T|STXBP5_ENST00000367480.3_Silent_p.T767T|STXBP5_ENST00000179882.6_Silent_p.T475T	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	820					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.T784T(1)|p.T820T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTGGAACAACGCTAGGAACAG	0.493																																							uc003qlz.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2458-2460)ACG>ACT		syntaxin binding protein 5 (tomosyn) isoform b							128.0	113.0	118.0					6																	147680374		2203	4300	6503	SO:0001819	synonymous_variant	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147680374G>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2460G>T	6.37:g.147680374G>T						STXBP5_uc010khz.1_Silent_p.T784T|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.T475T	p.T820T	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2621	+		Ovarian(120;0.0164)	820			WD 11.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.2460G>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	g	4.148	0.025835	0.08054	.	.	ENSG00000164506	ENST00000367475	.	.	.	5.46	-10.9	0.00192	.	.	.	.	.	T	0.23330	0.0564	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54662	-0.8260	4	.	.	.	.	6.1977	0.20559	0.0846:0.1644:0.4621:0.2889	.	.	.	.	S	146	.	.	A	+	1	0	STXBP5	147722067	0.000000	0.05858	0.000000	0.03702	0.701000	0.40568	-5.944000	0.00089	-3.778000	0.00108	-1.852000	0.00566	GCT		0.493	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			9	34	1	0	4.68919e-08	0.008291	6.87559e-08	9	34				
IGF2R	3482	broad.mit.edu	37	6	160517644	160517644	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:160517644G>T	ENST00000356956.1	+	45	6977	c.6829G>T	c.(6829-6831)Gtg>Ttg	p.V2277L	IGF2R_ENST00000475584.1_3'UTR|RP11-288H12.3_ENST00000569097.1_RNA	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2277					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.V2277L(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CACCTCAGCCGTGTGTCCTCT	0.512																																							uc003qta.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(6829-6831)GTG>TTG		insulin-like growth factor 2 receptor precursor							127.0	110.0	116.0					6																	160517644		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160517644G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6829G>T	6.37:g.160517644G>T	ENSP00000349437:p.Val2277Leu						p.V2277L	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	45	6977	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2277			15.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6829G>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519538	0.85495	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.69	5.69	0.88448	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01570	-1.1322	10	0.54805	T	0.06	-12.9574	19.8033	0.96518	0.0:0.0:1.0:0.0	.	2277	P11717	MPRI_HUMAN	L	2277	ENSP00000349437:V2277L	ENSP00000349437:V2277L	V	+	1	0	IGF2R	160437634	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	7.626000	0.83164	2.677000	0.91161	0.655000	0.94253	GTG		0.512	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		9	32	1	0	0.000673444	0.008291	0.000757755	9	32				
LPA	4018	broad.mit.edu	37	6	160978466	160978466	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:160978466G>A	ENST00000316300.5	-	29	4813	c.4769C>T	c.(4768-4770)cCc>cTc	p.P1590L	LPA_ENST00000447678.1_Missense_Mutation_p.P1590L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4098	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.P1590L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AACAACAGTGGGAGTCTCTAG	0.473																																							uc003qtl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4768-4770)CCC>CTC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						129.0	124.0	126.0					6																	160978466		1966	4192	6158	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160978466G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4769C>T	6.37:g.160978466G>A	ENSP00000321334:p.Pro1590Leu						p.P1590L	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	30	4889	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4098			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4769C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	11.52	1.663178	0.29515	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62639	0.01;0.01	2.04	-2.25	0.06888	Kringle-like fold (1);	.	.	.	.	T	0.51041	0.1651	L	0.56280	1.765	0.09310	N	0.999999	D	0.54601	0.967	D	0.64595	0.927	T	0.40813	-0.9543	9	0.66056	D	0.02	.	2.5753	0.04805	0.1848:0.0:0.3253:0.4899	.	4098	P08519	APOA_HUMAN	L	1590	ENSP00000321334:P1590L;ENSP00000395608:P1590L	ENSP00000321334:P1590L	P	-	2	0	LPA	160898456	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	0.017000	0.13399	-0.244000	0.09639	0.205000	0.17691	CCC		0.473	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		29	59	0	0	0	0.002096	0	29	59				
LPA	4018	broad.mit.edu	37	6	161010597	161010597	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:161010597T>A	ENST00000316300.5	-	24	3979	c.3935A>T	c.(3934-3936)tAc>tTc	p.Y1312F	LPA_ENST00000447678.1_Missense_Mutation_p.Y1312F			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3820	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Y1312F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTTGGGTAGTATTCTGTGGT	0.463																																							uc003qtl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(3934-3936)TAC>TTC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						138.0	140.0	139.0					6																	161010597		2089	4265	6354	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161010597T>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3935A>T	6.37:g.161010597T>A	ENSP00000321334:p.Tyr1312Phe						p.Y1312F	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	25	4055	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3820			Kringle 34.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3935A>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	2.023	-0.424326	0.04734	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.65732	-0.17;-0.17	2.74	2.74	0.32292	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.34250	0.0891	N	0.03115	-0.41	0.09310	N	0.999996	B	0.32693	0.38	P	0.57009	0.811	T	0.54655	-0.8261	9	0.10111	T	0.7	.	8.8885	0.35418	0.0:0.0:0.0:1.0	.	3820	P08519	APOA_HUMAN	F	1312	ENSP00000321334:Y1312F;ENSP00000395608:Y1312F	ENSP00000321334:Y1312F	Y	-	2	0	LPA	160930587	0.000000	0.05858	0.005000	0.12908	0.030000	0.12068	-0.186000	0.09670	1.253000	0.44018	0.358000	0.22013	TAC		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		9	24	0	0	0	0.006214	0	9	24				
PLG	5340	broad.mit.edu	37	6	161162348	161162348	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:161162348C>T	ENST00000308192.9	+	17	2087	c.2024C>T	c.(2023-2025)gCc>gTc	p.A675V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	675	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A675V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTCAGTCCTGCCGTCATCACT	0.527																																							uc003qtm.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2023-2025)GCC>GTC		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						96.0	84.0	88.0					6																	161162348		2203	4298	6501	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161162348C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2024C>T	6.37:g.161162348C>T	ENSP00000308938:p.Ala675Val						p.A675V	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	17	2087	+			675			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.2024C>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	3.616	-0.078611	0.07141	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.87256	-2.23	3.73	3.73	0.42828	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39020	U	0.001491	T	0.61362	0.2341	N	0.01202	-0.96	0.36820	D	0.886358	P	0.48834	0.916	P	0.51945	0.685	T	0.67086	-0.5759	10	0.22706	T	0.39	.	8.4758	0.33012	0.0:0.8849:0.0:0.1151	.	675	P00747	PLMN_HUMAN	V	675;75	ENSP00000308938:A675V	ENSP00000308938:A675V	A	+	2	0	PLG	161082338	0.959000	0.32827	0.094000	0.20943	0.040000	0.13550	2.137000	0.42130	1.619000	0.50296	0.454000	0.30748	GCC		0.527	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		7	33	0	0	0	0.001984	0	7	33				
MAP3K4	4216	broad.mit.edu	37	6	161530849	161530849	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:161530849G>T	ENST00000392142.4	+	23	4447	c.4299G>T	c.(4297-4299)ctG>ctT	p.L1433L	MAP3K4_ENST00000366919.2_Silent_p.L1383L|MAP3K4_ENST00000348824.7_Silent_p.L1379L|MAP3K4_ENST00000366920.2_Silent_p.L1429L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.L1433L(1)|p.L1432L(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGTCAAGGCTGGGACTTCAGG	0.468																																							uc003qtn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(4297-4299)CTG>CTT		mitogen-activated protein kinase kinase kinase 4							168.0	144.0	152.0					6																	161530849		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161530849G>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4299G>T	6.37:g.161530849G>T						MAP3K4_uc010kkc.1_Silent_p.L1429L|MAP3K4_uc003qto.2_Silent_p.L1383L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Silent_p.L886L|MAP3K4_uc003qtp.2_Silent_p.L369L|MAP3K4_uc003qtq.2_Silent_p.L122L	p.L1433L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	23	4441	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1433			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.4299G>T	CCDS34565.1																																																																																				0.468	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			15	33	1	0	3.27435e-08	0.00245	4.82536e-08	15	33				
TCP10L2	401285	broad.mit.edu	37	6	167591995	167591995	+	Missense_Mutation	SNP	G	G	T	rs369475090		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:167591995G>T	ENST00000366832.2	+	5	753	c.622G>T	c.(622-624)Ggt>Tgt	p.G208C		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	208								p.G208C(2)		endometrium(1)|kidney(2)|lung(3)	6						GCCGACTCCCGGTGCAGAAAG	0.522																																							uc010kkp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(622-624)GGT>TGT		t-complex 10-like 2							284.0	247.0	258.0					6																	167591995		692	1590	2282	SO:0001583	missense	401285							g.chr6:167591995G>T		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.622G>T	6.37:g.167591995G>T	ENSP00000355797:p.Gly208Cys						p.G208C	NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN			5	753	+			208						Missense_Mutation	SNP	ENST00000366832.2	37	c.622G>T	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	g	6.259	0.415981	0.11870	.	.	ENSG00000166984	ENST00000366832	T	0.17213	2.29	2.04	-1.4	0.08968	.	.	.	.	.	T	0.02727	0.0082	N	0.24115	0.695	0.09310	N	1	B	0.24132	0.098	B	0.21546	0.035	T	0.43605	-0.9381	9	0.48119	T	0.1	.	2.7421	0.05256	0.2489:0.0:0.2658:0.4853	.	208	B9ZVM9	TCP2L_HUMAN	C	208	ENSP00000355797:G208C	ENSP00000283507:G208C	G	+	1	0	TCP10L2	167511985	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-0.746000	0.04829	-0.446000	0.07149	0.162000	0.16502	GGT		0.522	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		13	50	1	0	4.7546e-09	0.004007	7.28706e-09	13	50				
UNC93A	54346	broad.mit.edu	37	6	167719471	167719471	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:167719471C>G	ENST00000230256.3	+	6	1084	c.909C>G	c.(907-909)gaC>gaG	p.D303E	UNC93A_ENST00000366829.2_Missense_Mutation_p.D261E	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D303E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGGCCACTGACGCGCTGTGCT	0.607																																							uc003qvq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(907-909)GAC>GAG		unc-93 homolog A isoform 1							254.0	201.0	219.0					6																	167719471		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167719471C>G	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.909C>G	6.37:g.167719471C>G	ENSP00000230256:p.Asp303Glu					UNC93A_uc003qvr.2_Missense_Mutation_p.D261E	p.D303E	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	6	1084	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	303			Helical; (Potential).		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.909C>G	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984365	0.18889	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.16457	2.34;2.8	4.73	-1.4	0.08968	Major facilitator superfamily domain, general substrate transporter (1);	0.323500	0.34959	N	0.003541	T	0.02888	0.0086	L	0.54323	1.7	0.09310	N	1	P;B	0.39940	0.696;0.336	B;B	0.37304	0.246;0.109	T	0.45731	-0.9241	10	0.02654	T	1	-9.7017	4.5277	0.11990	0.1537:0.3396:0.0:0.5067	.	261;303	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	E	303;261	ENSP00000230256:D303E;ENSP00000355794:D261E	ENSP00000230256:D303E	D	+	3	2	UNC93A	167639461	0.996000	0.38824	0.000000	0.03702	0.005000	0.04900	0.327000	0.19663	-0.157000	0.11059	-0.251000	0.11542	GAC		0.607	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		31	110	0	0	0	0.002836	0	31	110				
CARD11	84433	broad.mit.edu	37	7	2984049	2984049	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:2984049C>A	ENST00000396946.4	-	5	884	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	161					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.D154Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTCTTCTCATCCTCCAGCTGC	0.577			Mis		DLBCL																																		uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(481-483)GAT>TAT		caspase recruitment domain family, member 11							117.0	92.0	100.0					7																	2984049		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984049C>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.481G>T	7.37:g.2984049C>A	ENSP00000380150:p.Asp161Tyr						p.D161Y	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	885	-		Ovarian(82;0.0115)	161			Potential.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.481G>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934585	0.73442	.	.	ENSG00000198286	ENST00000396946	T	0.42900	0.96	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	M	0.62723	1.935	0.58432	D	0.999999	D	0.69078	0.997	D	0.68765	0.96	T	0.67364	-0.5689	10	0.87932	D	0	-27.7153	17.3242	0.87243	0.0:1.0:0.0:0.0	.	161	Q9BXL7	CAR11_HUMAN	Y	161	ENSP00000380150:D161Y	ENSP00000380150:D161Y	D	-	1	0	CARD11	2950575	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.279000	0.78599	2.153000	0.67306	0.655000	0.94253	GAT		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		10	98	1	0	4.3838e-07	0.001855	6.12554e-07	10	98				
C1GALT1	56913	broad.mit.edu	37	7	7283162	7283162	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:7283162G>T	ENST00000223122.3	+	3	958	c.896G>T	c.(895-897)gGt>gTt	p.G299V	C1GALT1_ENST00000436587.2_Missense_Mutation_p.G299V			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	299					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)	p.G299V(1)		breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TAGGGTCCTGGTTGCTGCTCT	0.338																																							uc010ktn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(895-897)GGT>GTT		core 1 synthase,							166.0	162.0	164.0					7																	7283162		2203	4299	6502	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7283162G>T	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.896G>T	7.37:g.7283162G>T	ENSP00000223122:p.Gly299Val					C1GALT1_uc003sra.2_Missense_Mutation_p.G299V|uc003srb.1_5'Flank	p.G299V	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	4	1119	+			299			Lumenal (Potential).		Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.896G>T	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192391	0.38707	.	.	ENSG00000106392	ENST00000436587;ENST00000223122	T;T	0.56275	0.47;0.47	4.75	4.75	0.60458	.	0.048409	0.85682	D	0.000000	T	0.48732	0.1516	L	0.47016	1.485	0.80722	D	1	B	0.26935	0.164	B	0.22880	0.042	T	0.48007	-0.9072	10	0.45353	T	0.12	-21.348	18.6309	0.91359	0.0:0.0:1.0:0.0	.	299	Q9NS00	C1GLT_HUMAN	V	299	ENSP00000389176:G299V;ENSP00000223122:G299V	ENSP00000223122:G299V	G	+	2	0	C1GALT1	7249687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.602000	0.61098	2.567000	0.86603	0.563000	0.77884	GGT		0.338	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		18	99	1	0	1.2644e-06	0.010504	1.7288e-06	18	99				
SCIN	85477	broad.mit.edu	37	7	12679984	12679984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:12679984C>T	ENST00000297029.5	+	11	1524	c.1423C>T	c.(1423-1425)Caa>Taa	p.Q475*	SCIN_ENST00000519209.1_Nonsense_Mutation_p.Q228*|SCIN_ENST00000445618.2_Nonsense_Mutation_p.Q228*	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	475	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.Q475*(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCGAGTCTCCCAAGGCAAAGA	0.418																																							uc003ssn.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1423-1425)CAA>TAA		scinderin isoform 1							52.0	50.0	51.0					7																	12679984		1837	4092	5929	SO:0001587	stop_gained	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12679984C>T	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1423C>T	7.37:g.12679984C>T	ENSP00000297029:p.Gln475*					SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Nonsense_Mutation_p.Q228*	p.Q475*	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	11	1633	+			475			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Nonsense_Mutation	SNP	ENST00000297029.5	37	c.1423C>T	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	c	38	6.813269	0.97857	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	.	.	.	4.56	3.68	0.42216	.	0.062939	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.0218	14.6942	0.69110	0.0:0.8537:0.1463:0.0	.	.	.	.	X	475;228;228	.	ENSP00000297029:Q475X	Q	+	1	0	SCIN	12646509	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.788000	0.69020	0.912000	0.36772	-0.217000	0.12591	CAA		0.418	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		9	13	0	0	0	0.006214	0	9	13				
AGMO	392636	broad.mit.edu	37	7	15240919	15240919	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:15240919A>T	ENST00000342526.3	-	13	1498	c.1329T>A	c.(1327-1329)ccT>ccA	p.P443P		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	443					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.P443P(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTTATTTCCAAGGGTGAGAGG	0.303																																							uc003stb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1327-1329)CCT>CCA		transmembrane protein 195							93.0	98.0	96.0					7																	15240919		2203	4296	6499	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15240919A>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1329T>A	7.37:g.15240919A>T							p.P443P	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			13	1499	-			443					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.1329T>A	CCDS34604.1																																																																																				0.303	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		16	30	0	0	0	0.008871	0	16	30				
AGMO	392636	broad.mit.edu	37	7	15584536	15584536	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:15584536C>G	ENST00000342526.3	-	3	439	c.270G>C	c.(268-270)agG>agC	p.R90S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	90					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.R90S(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTTCAATGCTCCTGAAAAATA	0.313																																							uc003stb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(268-270)AGG>AGC		transmembrane protein 195							71.0	77.0	75.0					7																	15584536		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15584536C>G		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.270G>C	7.37:g.15584536C>G	ENSP00000341662:p.Arg90Ser						p.R90S	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			3	440	-			90					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.270G>C	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571100	0.45798	.	.	ENSG00000187546	ENST00000342526	T	0.31769	1.48	5.55	3.75	0.43078	.	0.043681	0.85682	D	0.000000	T	0.26521	0.0648	M	0.64997	1.995	0.39184	D	0.962848	P	0.34462	0.454	B	0.33690	0.168	T	0.06716	-1.0811	10	0.19590	T	0.45	-12.5918	7.1186	0.25431	0.0:0.6556:0.0:0.3444	.	90	Q6ZNB7	ALKMO_HUMAN	S	90	ENSP00000341662:R90S	ENSP00000341662:R90S	R	-	3	2	AGMO	15551061	0.998000	0.40836	0.996000	0.52242	0.976000	0.68499	0.490000	0.22403	0.728000	0.32382	0.650000	0.86243	AGG		0.313	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		16	70	0	0	0	0.004007	0	16	70				
AGMO	392636	broad.mit.edu	37	7	15601446	15601446	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:15601446C>A	ENST00000342526.3	-	1	194	c.25G>T	c.(25-27)Gat>Tat	p.D9Y		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	9					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.D9Y(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACTGAAACATCCTGCTGGGCT	0.428																																							uc003stb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(25-27)GAT>TAT		transmembrane protein 195							115.0	110.0	112.0					7																	15601446		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15601446C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.25G>T	7.37:g.15601446C>A	ENSP00000341662:p.Asp9Tyr						p.D9Y	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			1	195	-			9					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.25G>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713195	0.30413	.	.	ENSG00000187546	ENST00000342526	T	0.32023	1.47	5.93	3.03	0.35002	.	0.727884	0.13683	N	0.370035	T	0.23649	0.0572	L	0.36672	1.1	0.21861	N	0.999502	B	0.18166	0.026	B	0.15484	0.013	T	0.18555	-1.0333	10	0.46703	T	0.11	-0.5487	8.4887	0.33086	0.0:0.6263:0.2932:0.0805	.	9	Q6ZNB7	ALKMO_HUMAN	Y	9	ENSP00000341662:D9Y	ENSP00000341662:D9Y	D	-	1	0	AGMO	15567971	0.482000	0.25948	0.901000	0.35422	0.710000	0.40934	0.637000	0.24659	0.348000	0.23949	0.655000	0.94253	GAT		0.428	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		18	51	1	0	6.49762e-13	0.006122	1.08992e-12	18	51				
FERD3L	222894	broad.mit.edu	37	7	19184799	19184799	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:19184799C>T	ENST00000275461.3	-	1	245	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	63	Poly-Glu.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E63K(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						tcctcttcttctgggtccccc	0.637																																							uc003suo.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(187-189)GAA>AAA		nephew of atonal 3							63.0	42.0	49.0					7																	19184799		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184799C>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.187G>A	7.37:g.19184799C>T	ENSP00000275461:p.Glu63Lys					uc003sun.1_RNA	p.E63K	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	246	-			63			Poly-Glu.		Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.187G>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362347	0.61403	.	.	ENSG00000146618	ENST00000275461	D	0.96774	-4.12	5.44	5.44	0.79542	.	0.935231	0.08948	N	0.870591	D	0.93549	0.7941	L	0.29908	0.895	0.42075	D	0.991224	P	0.37525	0.598	B	0.37346	0.247	D	0.87563	0.2473	10	0.09338	T	0.73	-0.3115	19.2697	0.94004	0.0:1.0:0.0:0.0	.	63	Q96RJ6	FER3L_HUMAN	K	63	ENSP00000275461:E63K	ENSP00000275461:E63K	E	-	1	0	FERD3L	19151324	0.005000	0.15991	0.365000	0.25901	0.867000	0.49689	2.171000	0.42453	2.569000	0.86673	0.650000	0.86243	GAA		0.637	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			3	22	0	0	0	0.009096	0	3	22				
ABCB5	340273	broad.mit.edu	37	7	20721224	20721224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:20721224G>T	ENST00000404938.2	+	15	2456	c.1804G>T	c.(1804-1806)Gag>Tag	p.E602*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.E157*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	602	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.E157*(1)|p.E602*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AATGCTGGCGGAGAAAGGAGC	0.448																																							uc003suw.3		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(469-471)GAG>TAG		ATP-binding cassette, sub-family B, member 5							172.0	143.0	153.0					7																	20721224		2203	4300	6503	SO:0001587	stop_gained	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20721224G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1804G>T	7.37:g.20721224G>T	ENSP00000384881:p.Glu602*					ABCB5_uc010kuh.2_Nonsense_Mutation_p.E602*	p.E157*	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			6	1015	+			157			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	c.469G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	37	6.395208	0.97533	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	.	.	.	4.67	3.78	0.43462	.	0.526148	0.16352	N	0.218185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.2325	0.59951	0.0:0.1611:0.8389:0.0	.	.	.	.	X	602;157	.	ENSP00000258738:E157X	E	+	1	0	ABCB5	20687749	1.000000	0.71417	0.962000	0.40283	0.000000	0.00434	7.755000	0.85180	1.557000	0.49525	-0.176000	0.13171	GAG		0.448	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		16	57	1	0	1.33834e-09	0.007413	2.07964e-09	16	57				
DNAH11	8701	broad.mit.edu	37	7	21639422	21639422	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:21639422C>T	ENST00000409508.3	+	15	2716	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	DNAH11_ENST00000328843.6_Silent_p.F895F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	895	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F895F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAGCTCTTCAAAGCCAATC	0.338									Kartagener syndrome																														uc003svc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2683-2685)TTC>TTT		dynein, axonemal, heavy chain 11							48.0	44.0	45.0					7																	21639422		1817	4077	5894	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639422C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2685C>T	7.37:g.21639422C>T							p.F895F	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2716	+			895			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.2685C>T																																																																																					0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	17	0	0	0	0.000602	0	5	17				
CLK2P1	1197	broad.mit.edu	37	7	23625071	23625071	+	IGR	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:23625071G>A								TRA2A (53411 upstream) : CCDC126 (11926 downstream)																							ACTCAAAGATGATGCAGCCTA	0.512																																							uc003swk.2		NA																	0					0						c.(424-426)ATC>ATT		SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2;																																				SO:0001628	intergenic_variant	1197							g.chr7:23625071G>A																													7.37:g.23625071G>A							p.I142I	NR_002711						1	1076	-									Silent	SNP		37	c.426C>T																																																																																				0	0.512									9	25	0	0	0	0.004482	0	9	25				
HOXA5	3202	broad.mit.edu	37	7	27183050	27183050	+	Silent	SNP	C	C	A	rs374569929		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:27183050C>A	ENST00000222726.3	-	1	237	c.177G>T	c.(175-177)tcG>tcT	p.S59S	HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA6_ENST00000521478.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	59					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S59S(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GGCCGGAGCCCGAGCGGCCGA	0.687																																					Colon(119;75 2200 7557 42868)	Colon(119;75 2200 7557 42868)	uc003syn.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)TCG>TCT		homeobox A5							23.0	27.0	26.0					7																	27183050		2203	4300	6503	SO:0001819	synonymous_variant	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27183050C>A		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.177G>T	7.37:g.27183050C>A							p.S59S	NM_019102	NP_061975	P20719	HXA5_HUMAN			1	238	-			59					A4D179|O43367|Q96CY6	Silent	SNP	ENST00000222726.3	37	c.177G>T	CCDS5406.1																																																																																				0.687	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			5	28	1	0	8.12818e-05	0.001984	9.82943e-05	5	28				
EVX1	2128	broad.mit.edu	37	7	27285713	27285713	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:27285713C>T	ENST00000496902.4	+	3	1379	c.893C>T	c.(892-894)tCg>tTg	p.S298L	EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_Missense_Mutation_p.S116L			P49640	EVX1_HUMAN	even-skipped homeobox 1	298					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S298L(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GCCGCCGCCTCGCCCTTCAGC	0.771																																							uc003szd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(892-894)TCG>TTG		even-skipped homeobox 1							4.0	5.0	5.0					7																	27285713		1699	3505	5204	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27285713C>T		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.893C>T	7.37:g.27285713C>T	ENSP00000419266:p.Ser298Leu					EVX1_uc011jzn.1_Missense_Mutation_p.S116L|EVX1_uc010kuy.1_3'UTR	p.S298L	NM_001989	NP_001980	P49640	EVX1_HUMAN			3	1379	+			298					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.893C>T	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726423	0.69074	.	.	ENSG00000106038	ENST00000496902;ENST00000535619	D;D	0.92545	-2.91;-3.06	4.55	4.55	0.56014	.	0.395003	0.29348	N	0.012404	D	0.89104	0.6620	L	0.42245	1.32	0.47183	D	0.999346	B	0.31949	0.348	B	0.29440	0.102	D	0.89322	0.3641	10	0.72032	D	0.01	-11.3268	17.6683	0.88209	0.0:1.0:0.0:0.0	.	298	P49640	EVX1_HUMAN	L	298;116	ENSP00000419266:S298L;ENSP00000446458:S116L	ENSP00000419266:S298L	S	+	2	0	EVX1	27252238	1.000000	0.71417	0.997000	0.53966	0.568000	0.35870	2.821000	0.48065	2.223000	0.72356	0.462000	0.41574	TCG		0.771	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			4	5	0	0	0	0.009096	0	4	5				
ADCYAP1R1	117	broad.mit.edu	37	7	31125054	31125054	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:31125054C>T	ENST00000304166.4	+	9	955	c.666C>T	c.(664-666)tcC>tcT	p.S222S	ADCYAP1R1_ENST00000409489.1_Silent_p.S222S|ADCYAP1R1_ENST00000396211.2_Silent_p.S222S|ADCYAP1R1_ENST00000409363.1_Silent_p.S201S	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	222					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.S222S(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCTTCATCTCCACTGTGAGTG	0.557																																					Ovarian(44;225 1186 2158 11092)	Ovarian(44;225 1186 2158 11092)	uc003tca.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(664-666)TCC>TCT		adenylate cyclase activating polypeptide 1							131.0	108.0	116.0					7																	31125054		2203	4300	6503	SO:0001819	synonymous_variant	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31125054C>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.666C>T	7.37:g.31125054C>T						ADCYAP1R1_uc003tcb.1_Silent_p.S201S|ADCYAP1R1_uc003tcc.1_Silent_p.S222S|ADCYAP1R1_uc003tcd.1_Silent_p.S222S|ADCYAP1R1_uc003tce.1_Silent_p.S222S|ADCYAP1R1_uc003tcf.1_5'Flank	p.S222S	NM_001118	NP_001109	P41586	PACR_HUMAN			9	889	+			222			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	ENST00000304166.4	37	c.666C>T	CCDS5433.1																																																																																				0.557	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		23	61	0	0	0	0.004656	0	23	61				
ADCYAP1R1	117	broad.mit.edu	37	7	31126008	31126008	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:31126008A>T	ENST00000304166.4	+	10	969	c.680A>T	c.(679-681)aAg>aTg	p.K227M	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.K227M|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.K227M|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.K206M	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	227					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.K227M(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGGAATGTAAGGCCGTCATG	0.567																																					Ovarian(44;225 1186 2158 11092)	Ovarian(44;225 1186 2158 11092)	uc003tca.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(679-681)AAG>ATG		adenylate cyclase activating polypeptide 1							200.0	144.0	163.0					7																	31126008		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126008A>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.680A>T	7.37:g.31126008A>T	ENSP00000306620:p.Lys227Met					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.K206M|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.K227M|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.K227M|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.K227M|ADCYAP1R1_uc003tcf.1_5'Flank	p.K227M	NM_001118	NP_001109	P41586	PACR_HUMAN			10	903	+			227			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.680A>T	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759747	0.69763	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.69	5.69	0.88448	GPCR, family 2-like (1);	0.055571	0.64402	D	0.000001	T	0.73110	0.3545	M	0.88640	2.97	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.992;0.996;0.998;0.996;0.996	T	0.78929	-0.2010	10	0.87932	D	0	.	13.8941	0.63761	1.0:0.0:0.0:0.0	.	227;227;227;206;227	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	M	227;206;227;227	ENSP00000306620:K227M;ENSP00000387335:K206M;ENSP00000379514:K227M;ENSP00000386395:K227M	ENSP00000306620:K227M	K	+	2	0	ADCYAP1R1	31092533	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.488000	0.60300	2.162000	0.67917	0.533000	0.62120	AAG		0.567	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		8	23	0	0	0	0.004482	0	8	23				
DPY19L2P1	554236	broad.mit.edu	37	7	35142703	35142703	+	RNA	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:35142703G>C	ENST00000436258.1	-	0	1811							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CAGCCAAAGAGCTGAAACGAA	0.358																																							uc003teq.1		NA																	0					0						c.(853-855)CTC>GTC		RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2;																																						554236							g.chr7:35142703G>C	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35142703G>C						DPY19L2P1_uc003tep.1_Intron|DPY19L2P1_uc010kwz.1_Intron	p.L285V							19	1960	-								B4E2E3	Missense_Mutation	SNP	ENST00000436258.1	37	c.853C>G																																																																																					0.358	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			7	21	0	0	0	0.001984	0	7	21				
TRGC1	6966	broad.mit.edu	37	7	38305109	38305109	+	RNA	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:38305109G>A	ENST00000443402.2	-	0	170					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TTCCCCTCCTGGGATCCCAGA	0.423																																							uc003tge.1		NA																	0					0						c.(598-600)CAG>TAG		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							162.0	164.0	164.0					7																	38305109		1812	4074	5886			445347							g.chr7:38305109G>A	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305109G>A						uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA	p.Q200*			A2JGV3	A2JGV3_HUMAN			5	975	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Nonsense_Mutation	SNP	ENST00000443402.2	37	c.598C>T																																																																																					0.423	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		67	80	0	0	0	0.00361	0	67	80				
CDK13	8621	broad.mit.edu	37	7	40037171	40037171	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:40037171G>T	ENST00000181839.4	+	3	2555	c.1950G>T	c.(1948-1950)ccG>ccT	p.P650P	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Silent_p.P650P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	650					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.P650P(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTGATTTACCGCTGCCCCCTG	0.408																																							uc003thh.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(1948-1950)CCG>CCT		cell division cycle 2-like 5 isoform 1							137.0	147.0	143.0					7																	40037171		2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40037171G>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1950G>T	7.37:g.40037171G>T						CDK13_uc003thi.3_Silent_p.P650P|CDK13_uc011kbf.1_Silent_p.P36P	p.P650P	NM_003718	NP_003709	Q14004	CDK13_HUMAN			3	2232	+			650					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.1950G>T	CCDS5461.1																																																																																				0.408	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		46	89	1	0	6.31075e-24	0.00361	1.17801e-23	46	89				
INHBA	3624	broad.mit.edu	37	7	41729730	41729730	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:41729730C>A	ENST00000242208.4	-	3	1045	c.799G>T	c.(799-801)Ggg>Tgg	p.G267W	INHBA_ENST00000442711.1_Missense_Mutation_p.G267W|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	267					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.G267W(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ttcccttccccctcctcttct	0.592										TSP Lung(11;0.080)																													uc003thq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(799-801)GGG>TGG		inhibin beta A precursor							40.0	39.0	39.0					7																	41729730		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729730C>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.799G>T	7.37:g.41729730C>A	ENSP00000242208:p.Gly267Trp	TSP Lung(11;0.080)				INHBA_uc003thr.2_Missense_Mutation_p.G267W	p.G267W	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	1034	-			267					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.799G>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.664265	0.67700	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64991	-0.13;-0.13	5.69	4.81	0.61882	Transforming growth factor-beta, N-terminal (1);	0.115488	0.38897	N	0.001529	T	0.60715	0.2290	N	0.22421	0.69	0.42617	D	0.993339	P	0.50617	0.937	P	0.54544	0.755	T	0.66002	-0.6031	10	0.87932	D	0	-15.7383	12.2969	0.54852	0.0:0.921:0.0:0.079	.	267	P08476	INHBA_HUMAN	W	267	ENSP00000242208:G267W;ENSP00000397197:G267W	ENSP00000242208:G267W	G	-	1	0	INHBA	41696255	0.649000	0.27322	0.885000	0.34714	0.963000	0.63663	3.444000	0.52914	1.418000	0.47098	0.585000	0.79938	GGG		0.592	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			7	27	1	0	0.00198382	0.001984	0.00217995	7	27				
HECW1	23072	broad.mit.edu	37	7	43484068	43484068	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:43484068G>A	ENST00000395891.2	+	11	1902	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	HECW1_ENST00000453890.1_Missense_Mutation_p.V433M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	433					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V412M(1)|p.V433M(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CATGGTCTCTGTGGGACCTGA	0.622																																							uc003tid.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1297-1299)GTG>ATG		NEDD4-like ubiquitin-protein ligase 1							22.0	25.0	24.0					7																	43484068		2076	4210	6286	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484068G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1297G>A	7.37:g.43484068G>A	ENSP00000379228:p.Val433Met					HECW1_uc011kbi.1_Missense_Mutation_p.V433M	p.V433M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	1902	+			433					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1297G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994156	0.35226	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.31247	1.52;1.5	4.88	2.02	0.26589	.	2.912690	0.00786	N	0.001318	T	0.24699	0.0599	L	0.36672	1.1	0.09310	N	1	P;P	0.39624	0.681;0.681	B;B	0.30855	0.078;0.121	T	0.28490	-1.0042	10	0.42905	T	0.14	.	8.455	0.32893	0.1431:0.1278:0.7291:0.0	.	433;433	B4DH42;Q76N89	.;HECW1_HUMAN	M	433	ENSP00000379228:V433M;ENSP00000407774:V433M	ENSP00000265522:V433M	V	+	1	0	HECW1	43450593	0.012000	0.17670	0.002000	0.10522	0.272000	0.26649	1.605000	0.36815	0.298000	0.22638	0.591000	0.81541	GTG		0.622	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		7	19	0	0	0	0.001984	0	7	19				
AEBP1	165	broad.mit.edu	37	7	44153462	44153462	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:44153462C>A	ENST00000223357.3	+	21	3384	c.3079C>A	c.(3079-3081)Ctg>Atg	p.L1027M	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.L602M	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1027	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L1027M(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACAACACCGCCTGCGGCTTCG	0.687																																							uc003tkb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3079-3081)CTG>ATG		adipocyte enhancer binding protein 1 precursor							57.0	63.0	61.0					7																	44153462		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153462C>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3079C>A	7.37:g.44153462C>A	ENSP00000223357:p.Leu1027Met					AEBP1_uc003tkc.3_Missense_Mutation_p.L602M|AEBP1_uc003tkd.2_Missense_Mutation_p.L277M	p.L1027M	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			21	3384	+			1027			Required for transcriptional repression (By similarity).|Interaction with MAPK1 and MAPK3 (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3079C>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008545	0.54361	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95377	-3.69;-3.08	5.33	4.37	0.52481	.	0.323582	0.26130	N	0.026163	D	0.90580	0.7047	N	0.24115	0.695	0.20764	N	0.999854	B;B	0.22480	0.065;0.07	B;B	0.21708	0.036;0.024	D	0.84347	0.0530	10	0.72032	D	0.01	-16.2742	11.6068	0.51037	0.1734:0.7154:0.1112:0.0	.	602;1027	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	M	1027;602	ENSP00000223357:L1027M;ENSP00000398878:L602M	ENSP00000223357:L1027M	L	+	1	2	AEBP1	44119987	0.998000	0.40836	0.993000	0.49108	0.774000	0.43823	1.448000	0.35112	2.499000	0.84300	0.557000	0.71058	CTG		0.687	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		16	49	1	0	8.34094e-07	0.008871	1.14354e-06	16	49				
ADCY1	107	broad.mit.edu	37	7	45743059	45743059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:45743059C>T	ENST00000297323.7	+	15	2561	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	847					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.Q847*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACGTCGCCCAGCACTTCCT	0.622																																							uc003tne.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2539-2541)CAG>TAG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						157.0	131.0	140.0					7																	45743059		2203	4300	6503	SO:0001587	stop_gained	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45743059C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2539C>T	7.37:g.45743059C>T	ENSP00000297323:p.Gln847*						p.Q847*	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			15	2557	+			847			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Nonsense_Mutation	SNP	ENST00000297323.7	37	c.2539C>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	40	7.991824	0.98599	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	.	.	.	5.03	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	13.1698	0.59591	0.0:0.8384:0.1616:0.0	.	.	.	.	X	847	.	ENSP00000297323:Q847X	Q	+	1	0	ADCY1	45709584	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.229000	0.78088	1.314000	0.45095	0.462000	0.41574	CAG		0.622	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		4	20	0	0	0	0.001168	0	4	20				
PKD1L1	168507	broad.mit.edu	37	7	47930295	47930295	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:47930295G>T	ENST00000289672.2	-	16	2570	c.2520C>A	c.(2518-2520)caC>caA	p.H840Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	840	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.H840Q(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATCCAGTTGGTGTGCAGTGG	0.587																																							uc003tny.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(2518-2520)CAC>CAA		polycystin-1L1							73.0	66.0	68.0					7																	47930295		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47930295G>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2520C>A	7.37:g.47930295G>T	ENSP00000289672:p.His840Gln						p.H840Q	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			16	2520	-			840			Extracellular (Potential).|REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2520C>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312774	0.23908	.	.	ENSG00000158683	ENST00000289672	T	0.69040	-0.37	5.4	-1.58	0.08479	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.407880	0.04376	N	0.359990	T	0.48409	0.1498	L	0.36672	1.1	0.09310	N	1	P	0.43287	0.802	B	0.37601	0.254	T	0.41052	-0.9530	10	0.29301	T	0.29	-3.2317	0.8976	0.01267	0.384:0.1567:0.2984:0.1609	.	840	Q8TDX9	PK1L1_HUMAN	Q	840	ENSP00000289672:H840Q	ENSP00000289672:H840Q	H	-	3	2	PKD1L1	47896820	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.880000	0.04183	0.019000	0.15079	0.638000	0.83543	CAC		0.587	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		7	38	1	0	2.0095e-06	0.001984	2.69165e-06	7	38				
FIGNL1	63979	broad.mit.edu	37	7	50514903	50514903	+	Missense_Mutation	SNP	C	C	A	rs376408467		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:50514903C>A	ENST00000419119.1	-	2	1636	c.83G>T	c.(82-84)gGa>gTa	p.G28V	FIGNL1_ENST00000356889.4_Missense_Mutation_p.G28V|FIGNL1_ENST00000433017.1_Missense_Mutation_p.G28V|FIGNL1_ENST00000435566.1_Missense_Mutation_p.G28V|FIGNL1_ENST00000395556.2_Missense_Mutation_p.G28V			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	28					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.G28V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGCCTTCGGTCCGGTACATAT	0.443																																							uc003tpc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(82-84)GGA>GTA		fidgetin-like 1							65.0	55.0	59.0					7																	50514903		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514903C>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.83G>T	7.37:g.50514903C>A	ENSP00000410811:p.Gly28Val					FIGNL1_uc003tpb.2_5'UTR|FIGNL1_uc003tpd.2_Missense_Mutation_p.G28V|FIGNL1_uc003tpe.2_Missense_Mutation_p.G28V|FIGNL1_uc010kyy.2_Missense_Mutation_p.G28V	p.G28V	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	460	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	28					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.83G>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	5.671	0.308338	0.10733	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000435566;ENST00000436590;ENST00000422854;ENST00000440350;ENST00000420829;ENST00000448788	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.21	-2.43	0.06522	.	0.554792	0.18386	N	0.142815	T	0.14830	0.0358	L	0.54323	1.7	0.26778	N	0.969667	P	0.35383	0.498	B	0.30572	0.117	T	0.08911	-1.0699	10	0.56958	D	0.05	-0.298	6.5955	0.22669	0.0:0.3435:0.1267:0.5299	.	28	Q6PIW4	FIGL1_HUMAN	V	28	ENSP00000349356:G28V;ENSP00000378924:G28V;ENSP00000399997:G28V;ENSP00000410811:G28V;ENSP00000394070:G28V;ENSP00000403012:G28V;ENSP00000388471:G28V	ENSP00000349356:G28V	G	-	2	0	FIGNL1	50482397	0.037000	0.19845	0.001000	0.08648	0.213000	0.24496	-0.087000	0.11215	-0.418000	0.07450	-0.251000	0.11542	GGA		0.443	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		13	36	1	0	1.61879e-10	0.001368	2.59577e-10	13	36				
POM121L12	285877	broad.mit.edu	37	7	53103830	53103830	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:53103830C>A	ENST00000408890.4	+	1	482	c.466C>A	c.(466-468)Cag>Aag	p.Q156K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	156								p.Q156K(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ATCCCCTGGACAGAGAgcccg	0.731																																							uc003tpz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(466-468)CAG>AAG		POM121 membrane glycoprotein-like 12							14.0	18.0	17.0					7																	53103830		1879	4072	5951	SO:0001583	missense	285877							g.chr7:53103830C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.466C>A	7.37:g.53103830C>A	ENSP00000386133:p.Gln156Lys						p.Q156K	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	482	+			156					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.466C>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	7.119	0.577605	0.13686	.	.	ENSG00000221900	ENST00000408890	T	0.24908	1.83	1.16	1.16	0.20824	.	.	.	.	.	T	0.16557	0.0398	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	B	0.43680	0.427	T	0.12091	-1.0561	9	0.54805	T	0.06	.	5.6953	0.17853	0.0:1.0:0.0:0.0	.	156	Q8N7R1	P1L12_HUMAN	K	156	ENSP00000386133:Q156K	ENSP00000386133:Q156K	Q	+	1	0	POM121L12	53071324	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.147000	0.16202	0.948000	0.37687	0.555000	0.69702	CAG		0.731	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		7	19	1	0	8.12818e-05	0.001984	9.82943e-05	7	19				
ZNF679	168417	broad.mit.edu	37	7	63726720	63726720	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:63726720G>C	ENST00000421025.1	+	5	978	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.E237Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E237Q(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCATACTGGAGAGAAACCCTA	0.403																																							uc003tsx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(709-711)GAG>CAG		zinc finger protein 679							33.0	35.0	34.0					7																	63726720		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726720G>C	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.709G>C	7.37:g.63726720G>C	ENSP00000416809:p.Glu237Gln						p.E237Q	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			5	978	+			237						Missense_Mutation	SNP	ENST00000421025.1	37	c.709G>C	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727510	0.69074	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.25912	1.77;1.77	0.81	0.81	0.18732	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30541	0.0768	N	0.17764	0.52	0.26306	N	0.977894	D	0.71674	0.998	D	0.79784	0.993	T	0.14337	-1.0476	9	0.72032	D	0.01	.	6.9761	0.24677	0.0:0.0:1.0:0.0	.	237	Q8IYX0	ZN679_HUMAN	Q	237	ENSP00000416809:E237Q;ENSP00000255746:E237Q	ENSP00000255746:E237Q	E	+	1	0	ZNF679	63364155	0.997000	0.39634	0.721000	0.30653	0.723000	0.41478	3.017000	0.49615	0.181000	0.19994	0.184000	0.17185	GAG		0.403	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		6	22	0	0	0	0.001168	0	6	22				
ZNF138	7697	broad.mit.edu	37	7	64313234	64313234	+	IGR	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:64313234G>T								ZNF138 (19180 upstream) : ZNF273 (29636 downstream)																							GGACAATCCAGGGGTTTAGTA	0.483																																							uc003ttj.1		NA																	0					0						c.(391-393)CCC>CCA		SubName: Full=Selenophosphate synthetase 1; SubName: Full=Selenophosphate synthetase 1, isoform CRA_a;																																				SO:0001628	intergenic_variant	168474							g.chr7:64313234G>T																													7.37:g.64313234G>T							p.P131P	NR_002789						1	945	-									Silent	SNP		37	c.393C>A																																																																																				0	0.483									6	13	1	0	0.00116845	0.001168	0.00130265	6	13				
WBSCR17	64409	broad.mit.edu	37	7	71142239	71142239	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:71142239C>A	ENST00000333538.5	+	9	2082	c.1448C>A	c.(1447-1449)cCg>cAg	p.P483Q	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	483	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P483Q(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GACCAGGGGCCGCTGGAGAAC	0.532																																							uc003tvy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1447-1449)CCG>CAG		UDP-GalNAc:polypeptide							227.0	226.0	226.0					7																	71142239		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71142239C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1448C>A	7.37:g.71142239C>A	ENSP00000329654:p.Pro483Gln					WBSCR17_uc003tvz.2_Missense_Mutation_p.P182Q	p.P483Q	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			9	1448	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	483			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1448C>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132495	0.56828	.	.	ENSG00000185274	ENST00000333538	T	0.30714	1.52	5.2	5.2	0.72013	Ricin B-related lectin (1);Ricin B lectin (3);	0.186328	0.48286	D	0.000188	T	0.45875	0.1364	L	0.49126	1.545	0.39622	D	0.97004	D	0.62365	0.991	D	0.64144	0.922	T	0.17349	-1.0372	10	0.12103	T	0.63	.	17.9178	0.88957	0.0:1.0:0.0:0.0	.	483	Q6IS24	GLTL3_HUMAN	Q	483	ENSP00000329654:P483Q	ENSP00000329654:P483Q	P	+	2	0	WBSCR17	70780175	0.273000	0.24181	0.938000	0.37757	0.877000	0.50540	2.573000	0.46007	2.692000	0.91855	0.650000	0.86243	CCG		0.532	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		35	155	1	0	6.97489e-18	0.004878	1.26469e-17	35	155				
MLXIPL	51085	broad.mit.edu	37	7	73008622	73008622	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:73008622G>C	ENST00000313375.3	-	16	2469	c.2422C>G	c.(2422-2424)Ctg>Gtg	p.L808V	MLXIPL_ENST00000414749.2_Missense_Mutation_p.L806V|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L787V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L789V|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L715V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L714V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	808					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L808V(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGAGCGGGCAGAGAGCAGTAC	0.627																																							uc003tyn.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	pancreas(1)	1						c.(2422-2424)CTG>GTG		Williams Beuren syndrome chromosome region 14							82.0	74.0	77.0					7																	73008622		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73008622G>C	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2422C>G	7.37:g.73008622G>C	ENSP00000320886:p.Leu808Val					MLXIPL_uc003tyj.1_Missense_Mutation_p.L187V|MLXIPL_uc003tyk.1_Missense_Mutation_p.L787V|MLXIPL_uc003tyl.1_Missense_Mutation_p.L806V|MLXIPL_uc003tym.1_Missense_Mutation_p.L789V|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.L714V	p.L808V	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			16	2470	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	808					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.2422C>G	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399560	0.62177	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.38077	2.07;2.02;2.05;2.03;1.4;1.16	4.53	1.73	0.24493	.	0.000000	0.56097	D	0.000034	T	0.54447	0.1859	M	0.75615	2.305	0.34977	D	0.753701	D;D;D;D;D	0.89917	0.998;0.997;0.998;1.0;0.999	D;D;D;D;D	0.91635	0.99;0.991;0.996;0.999;0.999	T	0.63242	-0.6681	10	0.87932	D	0	-16.246	8.1595	0.31190	0.2732:0.0:0.7268:0.0	.	715;808;789;806;787	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	V	806;789;808;787;715;714	ENSP00000412330:L806V;ENSP00000406296:L789V;ENSP00000320886:L808V;ENSP00000346629:L787V;ENSP00000378616:L715V;ENSP00000392636:L714V	ENSP00000320886:L808V	L	-	1	2	MLXIPL	72646558	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.742000	0.62103	0.169000	0.19679	0.561000	0.74099	CTG		0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		9	62	0	0	0	0.008291	0	9	62				
MAGI2	9863	broad.mit.edu	37	7	78150938	78150938	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:78150938G>T	ENST00000354212.4	-	4	816	c.563C>A	c.(562-564)cCg>cAg	p.P188Q	MAGI2_ENST00000522391.1_Missense_Mutation_p.P188Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.P188Q|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000536571.1_Missense_Mutation_p.P20Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.P25Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	188	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P188Q(1)|p.P188L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTCTGCTGGCGGCTTTGGGGT	0.393																																							uc003ugx.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(562-564)CCG>CAG		membrane associated guanylate kinase, WW and PDZ							178.0	183.0	181.0					7																	78150938		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78150938G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.563C>A	7.37:g.78150938G>T	ENSP00000346151:p.Pro188Gln					MAGI2_uc003ugy.2_Missense_Mutation_p.P188Q|MAGI2_uc011kgr.1_Missense_Mutation_p.P20Q|MAGI2_uc011kgs.1_Missense_Mutation_p.P25Q	p.P188Q	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			4	817	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	188			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.563C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831512	0.91036	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.45668	0.89;0.89;0.89;1.14;0.89	5.67	5.67	0.87782	Guanylate kinase/L-type calcium channel (1);	0.000000	0.33005	U	0.005382	T	0.59689	0.2212	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.60495	-0.7252	10	0.87932	D	0	.	18.7612	0.91851	0.0:0.0:1.0:0.0	.	25;20;188;188	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	Q	188;188;188;188;20;25	ENSP00000405766:P188Q;ENSP00000346151:P188Q;ENSP00000428389:P188Q;ENSP00000441584:P20Q;ENSP00000441603:P25Q	ENSP00000346151:P188Q	P	-	2	0	MAGI2	77988874	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.427000	0.97472	2.677000	0.91161	0.655000	0.94253	CCG		0.393	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		30	158	1	0	2.47511e-08	0.008361	3.6773e-08	30	158				
PCLO	27445	broad.mit.edu	37	7	82544170	82544170	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:82544170C>A	ENST00000333891.9	-	7	13469	c.13132G>T	c.(13132-13134)Gct>Tct	p.A4378S	PCLO_ENST00000423517.2_Missense_Mutation_p.A4378S|PCLO_ENST00000437081.1_Missense_Mutation_p.A1098S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A4378S(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTCCAGCTGCAGCCCTG	0.512																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13132-13134)GCT>TCT		piccolo isoform 1							78.0	82.0	80.0					7																	82544170		1992	4170	6162	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544170C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13132G>T	7.37:g.82544170C>A	ENSP00000334319:p.Ala4378Ser					PCLO_uc003uhv.2_Missense_Mutation_p.A4378S|PCLO_uc010lec.2_Missense_Mutation_p.A1343S	p.A4378S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	13421	-			4309						Missense_Mutation	SNP	ENST00000333891.9	37	c.13132G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819566	0.71028	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18174	2.23;2.23	5.75	5.75	0.90469	.	.	.	.	.	T	0.44265	0.1285	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	T	0.25152	-1.0140	9	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	4309;4378;4378	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	S	4378;4378;1098	ENSP00000334319:A4378S;ENSP00000388393:A4378S	ENSP00000334319:A4378S	A	-	1	0	PCLO	82382106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	GCT		0.512	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	34	1	0	8.12818e-05	0.001984	9.82943e-05	7	34				
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:82545171C>T	ENST00000333891.9	-	7	12468	c.12131G>A	c.(12130-12132)cGa>cAa	p.R4044Q	PCLO_ENST00000423517.2_Missense_Mutation_p.R4044Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R764Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R4044Q(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACATAATTTCGTGGAGTATG	0.408																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(12130-12132)CGA>CAA		piccolo isoform 1							114.0	106.0	109.0					7																	82545171		1952	4154	6106	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545171C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12131G>A	7.37:g.82545171C>T	ENSP00000334319:p.Arg4044Gln					PCLO_uc003uhv.2_Missense_Mutation_p.R4044Q|PCLO_uc010lec.2_Missense_Mutation_p.R1009Q	p.R4044Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12420	-			3975						Missense_Mutation	SNP	ENST00000333891.9	37	c.12131G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352279	0.82132	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.57436	0.4;0.42	5.85	5.85	0.93711	.	.	.	.	.	T	0.74809	0.3765	M	0.74647	2.275	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.76052	-0.3100	9	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3975;4044;4044	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	4044;4044;764	ENSP00000334319:R4044Q;ENSP00000388393:R4044Q	ENSP00000334319:R4044Q	R	-	2	0	PCLO	82383107	1.000000	0.71417	0.967000	0.41034	0.955000	0.61496	7.818000	0.86416	2.767000	0.95098	0.563000	0.77884	CGA		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		21	30	0	0	0	0.008871	0	21	30				
SEMA3A	10371	broad.mit.edu	37	7	83739857	83739857	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:83739857G>C	ENST00000265362.4	-	4	696	c.382C>G	c.(382-384)Cac>Gac	p.H128D	SEMA3A_ENST00000436949.1_Missense_Mutation_p.H128D	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	128	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.H128D(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GCGTACAAGTGAGTCTGATTA	0.383																																							uc003uhz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)	4						c.(382-384)CAC>GAC		semaphorin 3A precursor							132.0	121.0	125.0					7																	83739857		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83739857G>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.382C>G	7.37:g.83739857G>C	ENSP00000265362:p.His128Asp						p.H128D	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			4	697	-			128			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.382C>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850527	0.91277	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.11495	2.77;2.77;2.77	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.080669	0.85682	D	0.000000	T	0.42314	0.1197	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.38824	-0.9643	10	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	128	Q14563	SEM3A_HUMAN	D	128	ENSP00000265362:H128D;ENSP00000415260:H128D;ENSP00000391900:H128D	ENSP00000265362:H128D	H	-	1	0	SEMA3A	83577793	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.405000	0.97313	2.809000	0.96659	0.555000	0.69702	CAC		0.383	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		14	73	0	0	0	0.001855	0	14	73				
SEMA3D	223117	broad.mit.edu	37	7	84642099	84642099	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:84642099G>T	ENST00000284136.6	-	15	1810	c.1767C>A	c.(1765-1767)gaC>gaA	p.D589E	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	589					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D589E(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTACTTACTGTCTTCGATGT	0.383																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)	5						c.(1765-1767)GAC>GAA		semaphorin 3D precursor							133.0	123.0	126.0					7																	84642099		2203	4300	6503	SO:0001630	splice_region_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84642099G>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1768+1C>A	7.37:g.84642099G>T						SEMA3D_uc010led.2_Missense_Mutation_p.D589E|SEMA3D_uc003uib.2_Missense_Mutation_p.D228E	p.D589E	NM_152754	NP_689967	O95025	SEM3D_HUMAN			15	1807	-			589					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1767C>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927233	0.34002	.	.	ENSG00000153993	ENST00000284136	T	0.30448	1.53	5.93	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	N	0.14661	0.345	0.80722	D	1	B	0.15141	0.012	B	0.16289	0.015	T	0.10177	-1.0641	10	0.06236	T	0.91	.	6.0821	0.19946	0.1364:0.0:0.5926:0.271	.	589	O95025	SEM3D_HUMAN	E	589	ENSP00000284136:D589E	ENSP00000284136:D589E	D	-	3	2	SEMA3D	84480035	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.120000	0.31271	0.834000	0.34852	-0.136000	0.14681	GAC		0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	Missense_Mutation	9	66	1	0	1.58986e-06	0.008291	2.14735e-06	9	66				
CFAP69	79846	broad.mit.edu	37	7	89874756	89874756	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:89874756C>G	ENST00000389297.4	+	1	269	c.18C>G	c.(16-18)gcC>gcG	p.A6A	C7orf63_ENST00000497910.1_Silent_p.A6A|C7orf63_ENST00000316089.8_Silent_p.A6A|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		6								p.A6A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAGAGGAAGCCGGGGCGACCG	0.677																																							uc010lep.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(16-18)GCC>GCG		hypothetical protein LOC79846 isoform 1							52.0	59.0	57.0					7																	89874756		1896	4116	6012	SO:0001819	synonymous_variant	79846						binding	g.chr7:89874756C>G																												ENST00000389297.4:c.18C>G	7.37:g.89874756C>G						C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Silent_p.A6A|C7orf63_uc010leo.2_Silent_p.A6A	p.A6A	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			1	269	+			6					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	c.18C>G	CCDS43613.2																																																																																				0.677	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			25	38	0	0	0	0.004656	0	25	38				
ANKIB1	54467	broad.mit.edu	37	7	92015853	92015853	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:92015853G>A	ENST00000265742.3	+	12	2024	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	550							zinc ion binding (GO:0008270)	p.E550K(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATTTGCCTTGAAGAGTGGAA	0.378																																							uc003ulw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1648-1650)GAA>AAA		ankyrin repeat and IBR domain containing 1							123.0	109.0	113.0					7																	92015853		1868	4113	5981	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92015853G>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1648G>A	7.37:g.92015853G>A	ENSP00000265742:p.Glu550Lys					ANKIB1_uc010lew.1_5'UTR	p.E550K	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		12	2024	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		550					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1648G>A	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075424	0.94000	.	.	ENSG00000001629	ENST00000265742	T	0.80033	-1.33	5.55	5.55	0.83447	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.048022	0.85682	D	0.000000	D	0.83585	0.5286	N	0.21324	0.655	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.81737	-0.0796	10	0.31617	T	0.26	.	19.8764	0.96873	0.0:0.0:1.0:0.0	.	550	Q9P2G1	AKIB1_HUMAN	K	550	ENSP00000265742:E550K	ENSP00000265742:E550K	E	+	1	0	ANKIB1	91853789	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.768000	0.95171	0.655000	0.94253	GAA		0.378	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			3	9	0	0	0	0.009096	0	3	9				
RBM48	84060	broad.mit.edu	37	7	92161862	92161862	+	Splice_Site	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:92161862A>T	ENST00000265732.5	+	3	488	c.447A>T	c.(445-447)aaA>aaT	p.K149N	RBM48_ENST00000481551.1_Splice_Site_p.K149N	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	149						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.K149N(1)									CTGAAAATAAAGGTATGGAAA	0.403																																							uc003ulz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(445-447)AAA>AAT		hypothetical protein LOC84060							75.0	69.0	71.0					7																	92161862		1911	4124	6035	SO:0001630	splice_region_variant	84060						nucleotide binding	g.chr7:92161862A>T	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.448+1A>T	7.37:g.92161862A>T						C7orf64_uc011khu.1_Missense_Mutation_p.K149N|C7orf64_uc003uma.2_Missense_Mutation_p.K149N	p.K149N	NM_032120	NP_115496	Q5RL73	CG064_HUMAN			3	488	+			149					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.447A>T	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220434	0.39201	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000496410;ENST00000450580	.	.	.	5.08	3.88	0.44766	.	0.532611	0.22398	N	0.060588	T	0.42337	0.1198	L	0.45228	1.405	0.49798	D	0.999826	P;B;P	0.39940	0.651;0.008;0.696	B;B;B	0.35931	0.081;0.012;0.214	T	0.20371	-1.0277	9	0.37606	T	0.19	-19.5547	11.7761	0.51987	0.8525:0.1475:0.0:0.0	.	149;149;149	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	N	149;149;91;149	.	ENSP00000265732:K149N	K	+	3	2	C7orf64	91999798	1.000000	0.71417	0.999000	0.59377	0.165000	0.22458	6.764000	0.74960	0.723000	0.32274	0.482000	0.46254	AAA		0.403	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	Missense_Mutation	24	28	0	0	0	0.00278	0	24	28				
PPP1R9A	55607	broad.mit.edu	37	7	94915575	94915575	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:94915575G>T	ENST00000433881.1	+	13	3347	c.2815G>T	c.(2815-2817)Ggc>Tgc	p.G939C	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G939C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G1163C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G1223C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G1163C|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.G1145C			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	939	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.G1163C(1)|p.G1223C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGACCTCAGCGGCTTAGGAGC	0.443										HNSCC(28;0.073)																													uc003unp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2815-2817)GGC>TGC		protein phosphatase 1, regulatory (inhibitor)							100.0	86.0	91.0					7																	94915575		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94915575G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2815G>T	7.37:g.94915575G>T	ENSP00000398870:p.Gly939Cys	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.G1223C|PPP1R9A_uc011kif.1_Missense_Mutation_p.G1145C|PPP1R9A_uc003unq.2_Missense_Mutation_p.G1163C|PPP1R9A_uc011kig.1_Missense_Mutation_p.G939C|PPP1R9A_uc003unr.2_Missense_Mutation_p.G236C	p.G939C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	3097	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		939			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2815G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135371	0.56828	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.26660	1.72;2.24;1.89;2.24;2.19;1.89	5.11	5.11	0.69529	.	0.066852	0.56097	D	0.000023	T	0.47097	0.1427	L	0.48642	1.525	0.39407	D	0.966681	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	P;D;D;D;D;D	0.97110	0.906;1.0;0.999;1.0;0.999;0.945	T	0.44937	-0.9295	10	0.87932	D	0	.	19.1109	0.93315	0.0:0.0:1.0:0.0	.	939;1145;1223;1163;1163;939	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	C	1223;939;1163;939;1145;1163	ENSP00000405514:G1223C;ENSP00000344524:G939C;ENSP00000411342:G1163C;ENSP00000398870:G939C;ENSP00000289495:G1145C;ENSP00000402893:G1163C	ENSP00000289495:G1145C	G	+	1	0	PPP1R9A	94753511	1.000000	0.71417	0.975000	0.42487	0.295000	0.27426	8.538000	0.90634	2.827000	0.97445	0.655000	0.94253	GGC		0.443	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		17	47	1	0	5.01169e-05	0.00499	6.18917e-05	17	47				
DYNC1I1	1780	broad.mit.edu	37	7	95442509	95442509	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:95442509G>T	ENST00000324972.6	+	4	418	c.225G>T	c.(223-225)gtG>gtT	p.V75V	DYNC1I1_ENST00000413338.1_Intron|DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000437599.1_Splice_Site_p.V75V|DYNC1I1_ENST00000447467.2_Intron|DYNC1I1_ENST00000457059.1_Intron|DYNC1I1_ENST00000537881.1_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	75	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.V75V(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTCACCAGTGCAGCCGCTGC	0.418																																							uc003uoc.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)	4						c.(223-225)GTG>GTT		dynein, cytoplasmic 1, intermediate chain 1							110.0	114.0	113.0					7																	95442509		2203	4300	6503	SO:0001630	splice_region_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95442509G>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.224-1G>T	7.37:g.95442509G>T						DYNC1I1_uc003uod.3_Intron|DYNC1I1_uc003uob.2_Intron|DYNC1I1_uc003uoe.3_Silent_p.V75V|DYNC1I1_uc010lfl.2_Intron	p.V75V	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		4	502	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		75			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.225G>T	CCDS5644.1																																																																																				0.418	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	Silent	19	122	1	0	2.37509e-13	0.010504	4.01176e-13	19	122				
DYNC1I1	1780	broad.mit.edu	37	7	95662087	95662087	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:95662087C>T	ENST00000324972.6	+	12	1469	c.1276C>T	c.(1276-1278)Cca>Tca	p.P426S	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P389S|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P406S|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P409S|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P409S|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P389S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	426					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.P426S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTCTCAACTCCACAGGTGGG	0.443																																							uc003uoc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(1276-1278)CCA>TCA		dynein, cytoplasmic 1, intermediate chain 1							195.0	150.0	165.0					7																	95662087		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95662087C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1276C>T	7.37:g.95662087C>T	ENSP00000320130:p.Pro426Ser					DYNC1I1_uc003uod.3_Missense_Mutation_p.P409S|DYNC1I1_uc003uob.2_Missense_Mutation_p.P389S|DYNC1I1_uc003uoe.3_Missense_Mutation_p.P406S|DYNC1I1_uc010lfl.2_Missense_Mutation_p.P415S	p.P426S	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		12	1553	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		426			WD 3.		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1276C>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774507	0.70107	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29;3.29	4.47	3.59	0.41128	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.055629	0.64402	N	0.000001	T	0.29976	0.0750	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	T	0.31641	-0.9936	10	0.72032	D	0.01	-1.4932	13.3613	0.60657	0.0:0.9224:0.0:0.0776	.	409;406;409;426;389	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	S	409;426;389;406;389;409	ENSP00000392337:P409S;ENSP00000320130:P426S;ENSP00000438377:P389S;ENSP00000398118:P406S;ENSP00000352348:P389S;ENSP00000412444:P409S	ENSP00000320130:P426S	P	+	1	0	DYNC1I1	95500023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	1.470000	0.48102	0.561000	0.74099	CCA		0.443	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		8	65	0	0	0	0.00308	0	8	65				
ZKSCAN5	23660	broad.mit.edu	37	7	99117525	99117525	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:99117525G>T	ENST00000394170.2	+	4	880	c.629G>T	c.(628-630)gGg>gTg	p.G210V	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.G210V|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.G210V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G210V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTCTCAACTGGGTCCCAGGTG	0.537																																							uc003uqv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(628-630)GGG>GTG		zinc finger with KRAB and SCAN domains 5							85.0	77.0	80.0					7																	99117525		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99117525G>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.629G>T	7.37:g.99117525G>T	ENSP00000377725:p.Gly210Val					ZKSCAN5_uc010lfx.2_Missense_Mutation_p.G210V|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.G210V|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR	p.G210V	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			4	753	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		210					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.629G>T	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055015	0.75960	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.13657	2.57;2.57;2.57	4.65	4.65	0.58169	Krueppel-associated box (1);	0.000000	0.50627	D	0.000111	T	0.15305	0.0369	N	0.08118	0	0.58432	D	0.999998	D	0.89917	1.0	D	0.74674	0.984	T	0.19160	-1.0314	10	0.11485	T	0.65	.	13.2453	0.60020	0.0:0.0:1.0:0.0	.	210	Q9Y2L8	ZKSC5_HUMAN	V	210	ENSP00000322872:G210V;ENSP00000392104:G210V;ENSP00000377725:G210V	ENSP00000322872:G210V	G	+	2	0	ZKSCAN5	98955461	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.221000	0.51215	2.595000	0.87683	0.563000	0.77884	GGG		0.537	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		10	54	1	0	2.17888e-05	0.006214	2.75625e-05	10	54				
OR2AE1	81392	broad.mit.edu	37	7	99474527	99474527	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:99474527G>A	ENST00000316368.2	-	1	153	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L44F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGAATGGTGAGGGTGTTGCCA	0.498																																							uc003usc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CTC>TTC		olfactory receptor, family 2, subfamily AE,							98.0	95.0	96.0					7																	99474527		2203	4300	6503	SO:0001583	missense	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474527G>A	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.130C>T	7.37:g.99474527G>A	ENSP00000313936:p.Leu44Phe						p.L44F	NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN			1	130	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		44			Helical; Name=1; (Potential).		B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	c.130C>T	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326560	0.24080	.	.	ENSG00000244623	ENST00000316368	T	0.20200	2.09	3.63	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35936	N	0.002884	T	0.37999	0.1024	M	0.68593	2.085	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.06607	-1.0817	10	0.51188	T	0.08	.	7.9935	0.30254	0.0:0.1756:0.6432:0.1813	.	44	Q8NHA4	O2AE1_HUMAN	F	44	ENSP00000313936:L44F	ENSP00000313936:L44F	L	-	1	0	OR2AE1	99312463	0.000000	0.05858	0.115000	0.21578	0.072000	0.16883	-1.246000	0.02896	0.467000	0.27218	0.501000	0.49751	CTC		0.498	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			16	25	0	0	0	0.004007	0	16	25				
AGFG2	3268	broad.mit.edu	37	7	100151090	100151090	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100151090G>T	ENST00000300176.4	+	4	674	c.552G>T	c.(550-552)ccG>ccT	p.P184P	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	184					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P184P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCCTGCACCGTCTCTCTCAG	0.552																																							uc003uvf.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(550-552)CCG>CCT		ArfGAP with FG repeats 2							94.0	81.0	85.0					7																	100151090		2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100151090G>T	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.552G>T	7.37:g.100151090G>T						AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.R46L	p.P184P	NM_006076	NP_006067	O95081	AGFG2_HUMAN			4	688	+			184					O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.552G>T	CCDS5697.1																																																																																				0.552	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		18	51	1	0	1.67942e-08	0.006122	2.5105e-08	18	51				
AGFG2	3268	broad.mit.edu	37	7	100159952	100159952	+	Silent	SNP	C	C	T	rs550739522		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100159952C>T	ENST00000300176.4	+	7	1070	c.948C>T	c.(946-948)gaC>gaT	p.D316D	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	316					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.D316D(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTCGCAGACGTGGGCAGCT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17703	0.0		0.001	False		,,,				2504	0.0						uc003uvf.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(946-948)GAC>GAT		ArfGAP with FG repeats 2							43.0	47.0	46.0					7																	100159952		2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100159952C>T	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.948C>T	7.37:g.100159952C>T						AGFG2_uc010lgy.2_Missense_Mutation_p.T178M	p.D316D	NM_006076	NP_006067	O95081	AGFG2_HUMAN			7	1084	+			316					O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.948C>T	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	3.110	-0.182952	0.06340	.	.	ENSG00000106351	ENST00000429987	.	.	.	4.61	-3.03	0.05429	.	.	.	.	.	T	0.47783	0.1464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39418	-0.9615	4	.	.	.	-23.1344	5.1848	0.15178	0.0:0.3746:0.1604:0.465	.	.	.	.	M	58	.	.	T	+	2	0	AGFG2	99997888	0.140000	0.22579	0.373000	0.26003	0.380000	0.30137	-0.905000	0.04075	-0.629000	0.05575	-0.477000	0.04895	ACG		0.637	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		15	29	0	0	0	0.010504	0	15	29				
LRCH4	4034	broad.mit.edu	37	7	100176407	100176407	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100176407G>A	ENST00000310300.6	-	5	653	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	201					nervous system development (GO:0007399)	PML body (GO:0016605)		p.L201L(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGTCCCCCAGCTCTGGAACA	0.622																																							uc003uvj.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(601-603)CTG>TTG		leucine-rich repeats and calponin homology (CH)							56.0	54.0	55.0					7																	100176407		2203	4300	6503	SO:0001819	synonymous_variant	4034				nervous system development	PML body	protein binding	g.chr7:100176407G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.601C>T	7.37:g.100176407G>A						LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_RNA	p.L201L	NM_002319	NP_002310	O75427	LRCH4_HUMAN			5	654	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		201			LRR 7.		A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	c.601C>T	CCDS34706.1																																																																																				0.622	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		8	39	0	0	0	0.00308	0	8	39				
ZAN	7455	broad.mit.edu	37	7	100359848	100359848	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100359848G>T	ENST00000348028.3	+	0	4018				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1285C(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACATACTCTGGCAAACTCTG	0.572																																							uc003uwj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(3853-3855)GGC>TGC		zonadhesin isoform 3							107.0	102.0	104.0					7																	100359848		2075	4218	6293			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100359848G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100359848G>T						ZAN_uc003uwk.2_Missense_Mutation_p.G1285C|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'UTR	p.G1285C	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		20	4018	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1285			VWFD 1.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.3853G>T		.	.	.	.	.	.	.	.	.	.	G	14.51	2.555922	0.45487	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.64803	-0.12;-0.12;-0.12	3.95	-1.64	0.08318	von Willebrand factor, type D domain (3);	1.743700	0.03214	N	0.176518	D	0.82701	0.5094	H	0.95224	3.64	0.24389	N	0.994757	D;D	0.76494	0.999;0.999	D;D	0.70487	0.948;0.969	T	0.63664	-0.6586	10	0.87932	D	0	.	4.7714	0.13157	0.4099:0.1699:0.4202:0.0	.	1285;1285	F5H0T8;Q9Y493	.;ZAN_HUMAN	C	1285	ENSP00000445943:G1285C;ENSP00000445091:G1285C;ENSP00000444427:G1285C	ENSP00000423579:G1285C	G	+	1	0	ZAN	100197784	0.000000	0.05858	0.004000	0.12327	0.212000	0.24457	-0.707000	0.05041	-0.492000	0.06687	-0.311000	0.09066	GGC		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	20	1	0	0.000157383	0.00308	0.000187214	7	20				
ZAN	7455	broad.mit.edu	37	7	100383678	100383678	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100383678C>T	ENST00000348028.3	+	0	7058				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2297A(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGGAGGAGCCATTCAGTGCG	0.587																																							uc003uwj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(6892-6894)GCC>GCT		zonadhesin isoform 3							59.0	61.0	60.0					7																	100383678		1973	4163	6136			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100383678C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100383678C>T						ZAN_uc003uwk.2_Silent_p.A2298A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.A348A	p.A2298A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		38	7059	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2298			VWFC 4.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.6894C>T																																																																																					0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	30	0	0	0	0.003163	0	14	30				
MUC17	140453	broad.mit.edu	37	7	100676939	100676939	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100676939C>A	ENST00000306151.4	+	3	2306	c.2242C>A	c.(2242-2244)Cca>Aca	p.P748T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	748	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGCACTCCATTAACAAG	0.493																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2242-2244)CCA>ACA		mucin 17 precursor							305.0	306.0	305.0					7																	100676939		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676939C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2242C>A	7.37:g.100676939C>A	ENSP00000302716:p.Pro748Thr					MUC17_uc010lho.1_RNA	p.P748T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2295	+	Lung NSC(181;0.136)|all_lung(186;0.182)		748			Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2242C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.421	-0.572847	0.03882	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.714	-0.611	0.11601	.	.	.	.	.	T	0.01765	0.0056	L	0.27053	0.805	0.09310	N	1	P	0.36222	0.544	B	0.25884	0.064	T	0.44605	-0.9317	9	0.10377	T	0.69	.	2.9832	0.05960	0.0:0.5049:0.0:0.4951	.	748	Q685J3	MUC17_HUMAN	T	748	ENSP00000302716:P748T	ENSP00000302716:P748T	P	+	1	0	MUC17	100463659	0.001000	0.12720	0.004000	0.12327	0.036000	0.12997	-1.020000	0.03618	-0.213000	0.10094	0.395000	0.25975	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		47	232	1	0	3.21987e-24	0.00361	6.02588e-24	47	232				
MUC17	140453	broad.mit.edu	37	7	100678017	100678017	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100678017C>A	ENST00000306151.4	+	3	3384	c.3320C>A	c.(3319-3321)cCt>cAt	p.P1107H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1107	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P1107H(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTGTGCCTGTCAGCACC	0.502																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3319-3321)CCT>CAT		mucin 17 precursor							496.0	394.0	429.0					7																	100678017		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678017C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3320C>A	7.37:g.100678017C>A	ENSP00000302716:p.Pro1107His					MUC17_uc010lho.1_RNA	p.P1107H	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3373	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1107			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3320C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295505	0.05532	.	.	ENSG00000169876	ENST00000306151	T	0.03330	3.97	0.801	0.801	0.18679	.	.	.	.	.	T	0.02610	0.0079	L	0.29908	0.895	0.09310	N	1	P	0.40144	0.704	B	0.31390	0.129	T	0.46938	-0.9155	9	0.44086	T	0.13	.	7.4603	0.27291	0.0:1.0:0.0:0.0	.	1107	Q685J3	MUC17_HUMAN	H	1107	ENSP00000302716:P1107H	ENSP00000302716:P1107H	P	+	2	0	MUC17	100464737	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.121000	0.15667	0.727000	0.32360	0.196000	0.17591	CCT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		46	640	1	0	1.83347e-19	0.00361	3.36637e-19	46	640				
PMPCB	9512	broad.mit.edu	37	7	102939074	102939074	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:102939074G>T	ENST00000249269.4	+	2	197	c.159G>T	c.(157-159)ctG>ctT	p.L53L	PMPCB_ENST00000428154.1_Silent_p.L53L|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	53					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L53L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGTTGTTCTGAATGTTCCTG	0.438																																							uc003vbl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(157-159)CTG>CTT		mitochondrial processing peptidase beta subunit							157.0	150.0	152.0					7																	102939074		2203	4300	6503	SO:0001819	synonymous_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102939074G>T	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.159G>T	7.37:g.102939074G>T						PMPCB_uc010liu.1_Silent_p.L53L|PMPCB_uc003vbk.1_Silent_p.L53L|PMPCB_uc003vbm.2_5'UTR|PMPCB_uc010liv.2_5'UTR|PMPCB_uc010liw.2_5'UTR|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	p.L53L	NM_004279	NP_004270	O75439	MPPB_HUMAN			2	193	+			53					O60416|Q96FV4	Silent	SNP	ENST00000249269.4	37	c.159G>T	CCDS5730.1																																																																																				0.438	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		40	108	1	0	3.54561e-26	0.009718	6.65258e-26	40	108				
RELN	5649	broad.mit.edu	37	7	103163867	103163867	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:103163867G>T	ENST00000428762.1	-	47	7620	c.7461C>A	c.(7459-7461)ggC>ggA	p.G2487G	RELN_ENST00000424685.2_Silent_p.G2487G|RELN_ENST00000343529.5_Silent_p.G2487G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2487	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.G2487G(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCTCCCATGGCCACTGCACA	0.458																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7459-7461)GGC>GGA		reelin isoform a							170.0	157.0	161.0					7																	103163867		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103163867G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7461C>A	7.37:g.103163867G>T						RELN_uc010liz.2_Silent_p.G2487G	p.G2487G	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	47	7621	-			2487			EGF-like 6.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.7461C>A	CCDS47680.1																																																																																				0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	94	1	0	1.37285e-15	0.004007	2.41702e-15	16	94				
RELN	5649	broad.mit.edu	37	7	103368565	103368565	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:103368565C>A	ENST00000428762.1	-	7	905	c.746G>T	c.(745-747)cGa>cTa	p.R249L	RELN_ENST00000424685.2_Missense_Mutation_p.R249L|RELN_ENST00000343529.5_Missense_Mutation_p.R249L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	249					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R249L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACCAGTTCTCGTGGGCCATA	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(745-747)CGA>CTA		reelin isoform a							131.0	107.0	115.0					7																	103368565		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103368565C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.746G>T	7.37:g.103368565C>A	ENSP00000392423:p.Arg249Leu					RELN_uc010liz.2_Missense_Mutation_p.R249L	p.R249L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	7	906	-			249					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.746G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302744	0.95601	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28454	1.61;1.61;1.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.70275	2.135	0.58432	D	0.999993	D;D	0.67145	0.996;0.993	D;D	0.79108	0.992;0.982	T	0.58555	-0.7616	10	0.87932	D	0	.	19.6991	0.96045	0.0:1.0:0.0:0.0	.	249;249	P78509-2;P78509	.;RELN_HUMAN	L	249	ENSP00000392423:R249L;ENSP00000345694:R249L;ENSP00000388446:R249L	ENSP00000345694:R249L	R	-	2	0	RELN	103155801	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.934000	0.70138	2.826000	0.97356	0.655000	0.94253	CGA		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		17	32	1	0	4.63292e-17	0.008871	8.2869e-17	17	32				
MET	4233	broad.mit.edu	37	7	116423428	116423428	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:116423428T>C	ENST00000318493.6	+	19	3944	c.3757T>C	c.(3757-3759)Tat>Cat	p.Y1253H	MET_ENST00000539704.1_Missense_Mutation_p.Y105H|MET_ENST00000397752.3_Missense_Mutation_p.Y1235H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y1253D(47)|p.Y1253H(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAAAGAATACTATAGTGTACA	0.398			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														uc003vij.2		NA		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		48	Substitution - Missense(48)	p.Y1253D(47)	upper_aerodigestive_tract(47)|lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(3703-3705)TAT>CAT		met proto-oncogene isoform b precursor							101.0	96.0	98.0					7																	116423428		1853	4099	5952	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116423428T>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3757T>C	7.37:g.116423428T>C	ENSP00000317272:p.Tyr1253His					MET_uc010lkh.2_Missense_Mutation_p.Y1253H|MET_uc011knj.1_Missense_Mutation_p.Y805H	p.Y1235H	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		19	3890	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1235			Protein kinase.|Interaction with RANBP9.|Cytoplasmic (Potential).		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3703T>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109034	0.77096	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	D;D;D	0.84660	-1.88;-1.88;-1.88	5.46	5.46	0.80206	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92711	0.7683	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	D	0.93755	0.7062	10	0.87932	D	0	.	15.824	0.78683	0.0:0.0:0.0:1.0	.	1253;1235	P08581-2;P08581	.;MET_HUMAN	H	1235;1253;105	ENSP00000380860:Y1235H;ENSP00000317272:Y1253H;ENSP00000445020:Y105H	ENSP00000317272:Y1253H	Y	+	1	0	MET	116210664	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.997000	0.88414	2.197000	0.70478	0.460000	0.39030	TAT		0.398	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			11	61	0	0	0	0.000978	0	11	61				
CPED1	79974	broad.mit.edu	37	7	120876855	120876855	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:120876855C>G	ENST00000310396.5	+	17	2610	c.2143C>G	c.(2143-2145)Cta>Gta	p.L715V	CPED1_ENST00000450913.2_Missense_Mutation_p.L715V|CPED1_ENST00000423795.1_Missense_Mutation_p.L495V	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	715						endoplasmic reticulum (GO:0005783)		p.L715V(1)									ACAGTCTGAACTAAAAAGATG	0.353																																							uc003vjq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2143-2145)CTA>GTA		hypothetical protein LOC79974 isoform 1							90.0	88.0	89.0					7																	120876855		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120876855C>G		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2143C>G	7.37:g.120876855C>G	ENSP00000309772:p.Leu715Val					C7orf58_uc003vjs.3_Missense_Mutation_p.L715V|C7orf58_uc003vjt.3_Missense_Mutation_p.L495V	p.L715V	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			17	2590	+	all_neural(327;0.117)		715					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2143C>G	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777737	0.31502	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.36340	1.85;1.31;1.26	5.86	2.98	0.34508	.	0.093751	0.43416	D	0.000565	T	0.29389	0.0732	L	0.54323	1.7	0.45108	D	0.998128	P;P;P	0.51351	0.944;0.944;0.838	B;B;B	0.40825	0.341;0.341;0.301	T	0.07195	-1.0785	10	0.66056	D	0.02	-8.8024	5.7501	0.18142	0.1368:0.6036:0.0:0.2596	.	495;715;715	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	V	715;715;495	ENSP00000309772:L715V;ENSP00000406122:L715V;ENSP00000415573:L495V	ENSP00000309772:L715V	L	+	1	2	C7orf58	120664091	0.000000	0.05858	0.716000	0.30569	0.827000	0.46813	-0.585000	0.05794	0.766000	0.33244	0.585000	0.79938	CTA		0.353	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		11	50	0	0	0	0.000978	0	11	50				
RNF133	168433	broad.mit.edu	37	7	122338680	122338680	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:122338680G>A	ENST00000340112.2	-	1	530	c.293C>T	c.(292-294)tCa>tTa	p.S98L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	98	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S98L(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCAGGTCTCTGAGTACTTTGA	0.448																																					Colon(198;1778 2057 7449 19869 45985)	Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(292-294)TCA>TTA		ring finger protein 133							159.0	170.0	166.0					7																	122338680		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338680G>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.293C>T	7.37:g.122338680G>A	ENSP00000344489:p.Ser98Leu					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.S98L	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	529	-			98			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.293C>T	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562559	0.27915	.	.	ENSG00000188050	ENST00000340112	T	0.15139	2.45	5.66	3.81	0.43845	.	0.797195	0.10749	N	0.638559	T	0.10937	0.0267	N	0.05259	-0.085	0.09310	N	0.999999	B	0.30727	0.292	B	0.39971	0.315	T	0.41734	-0.9492	10	0.35671	T	0.21	.	5.753	0.18158	0.1975:0.0:0.6468:0.1557	.	98	Q8WVZ7	RN133_HUMAN	L	98	ENSP00000344489:S98L	ENSP00000344489:S98L	S	-	2	0	RNF133	122125916	0.003000	0.15002	0.002000	0.10522	0.917000	0.54804	0.788000	0.26872	0.701000	0.31803	0.561000	0.74099	TCA		0.448	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		28	182	0	0	0	0.009535	0	28	182				
HYAL4	23553	broad.mit.edu	37	7	123508347	123508347	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:123508347G>T	ENST00000223026.4	+	3	658	c.20G>T	c.(19-21)gGa>gTa	p.G7V	HYAL4_ENST00000476325.1_Missense_Mutation_p.G7V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	7					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.G7V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTATCTGAAGGACAGTTAAAG	0.343																																							uc003vlc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(19-21)GGA>GTA		hyaluronoglucosaminidase 4							115.0	121.0	119.0					7																	123508347		2202	4300	6502	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508347G>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.20G>T	7.37:g.123508347G>T	ENSP00000223026:p.Gly7Val					HYAL4_uc011knz.1_Missense_Mutation_p.G7V	p.G7V	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			3	658	+			7			Cytoplasmic (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.20G>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	8.219	0.801987	0.16397	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	T;T	0.17054	2.3;2.3	5.2	5.2	0.72013	.	0.286235	0.27526	N	0.018969	T	0.09379	0.0231	N	0.08118	0	0.46823	D	0.999212	B;B	0.31680	0.16;0.335	B;B	0.29785	0.107;0.072	T	0.22243	-1.0222	10	0.44086	T	0.13	-12.6983	12.0541	0.53524	0.0:0.0:0.7828:0.2172	.	7;7	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	V	7	ENSP00000223026:G7V;ENSP00000417186:G7V	ENSP00000223026:G7V	G	+	2	0	HYAL4	123295583	1.000000	0.71417	0.999000	0.59377	0.216000	0.24613	2.735000	0.47377	2.581000	0.87130	0.655000	0.94253	GGA		0.343	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		34	69	1	0	4.14481e-20	0.00623	7.67791e-20	34	69				
FSCN3	29999	broad.mit.edu	37	7	127239547	127239547	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:127239547G>T	ENST00000265825.5	+	5	1452	c.1233G>T	c.(1231-1233)caG>caT	p.Q411H	FSCN3_ENST00000420086.2_Missense_Mutation_p.Q277H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	411						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q411H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						AGTGCAACCAGGATCAGCCCG	0.532																																							uc003vmd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1231-1233)CAG>CAT		fascin 3							169.0	134.0	146.0					7																	127239547		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127239547G>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1233G>T	7.37:g.127239547G>T	ENSP00000265825:p.Gln411His					FSCN3_uc011koh.1_Missense_Mutation_p.Q277H|FSCN3_uc010llc.1_Missense_Mutation_p.Q411H	p.Q411H	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			5	1452	+			411					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.1233G>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193858	0.38707	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.46063	0.88;0.88	5.73	5.73	0.89815	Actin cross-linking (1);	0.428958	0.24113	N	0.041438	T	0.26085	0.0636	N	0.08118	0	0.31526	N	0.661799	P;P	0.50066	0.931;0.761	B;B	0.40165	0.321;0.123	T	0.30119	-0.9989	10	0.62326	D	0.03	-22.7365	15.41	0.74911	0.0:0.0:1.0:0.0	.	277;411	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	411;277	ENSP00000265825:Q411H;ENSP00000412243:Q277H	ENSP00000265825:Q411H	Q	+	3	2	FSCN3	127026783	1.000000	0.71417	0.991000	0.47740	0.041000	0.13682	5.183000	0.65065	2.691000	0.91804	0.650000	0.86243	CAG		0.532	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		20	70	1	0	5.35356e-11	0.00278	8.68983e-11	20	70				
METTL2B	55798	broad.mit.edu	37	7	128138196	128138196	+	Splice_Site	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:128138196G>C	ENST00000262432.8	+	7	953	c.916G>C	c.(916-918)Ggt>Cgt	p.G306R	METTL2B_ENST00000480046.1_Splice_Site_p.G241R	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	306					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)	p.G306R(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTTTAAAAAAGGTATTTTGAG	0.463																																							uc003vnf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(916-918)GGT>CGT		methyltransferase like 2B							95.0	89.0	91.0					7																	128138196		2203	4300	6503	SO:0001630	splice_region_variant	55798						methyltransferase activity	g.chr7:128138196G>C	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.916+1G>C	7.37:g.128138196G>C						METTL2B_uc003vng.2_Missense_Mutation_p.G241R|METTL2B_uc011kop.1_Missense_Mutation_p.G170R	p.G306R	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN			7	953	+			306					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.916G>C	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748470	0.69533	.	.	ENSG00000165055	ENST00000262432;ENST00000480046;ENST00000481392	T;T;T	0.51574	2.42;2.44;0.7	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.91635	0.969;0.999	T	0.70673	-0.4807	10	0.62326	D	0.03	-1.1301	12.7326	0.57206	0.0:0.0:1.0:0.0	.	241;306	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	R	306;241;70	ENSP00000262432:G306R;ENSP00000418402:G241R;ENSP00000418989:G70R	ENSP00000262432:G306R	G	+	1	0	METTL2B	127925432	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	8.967000	0.93402	1.903000	0.55091	0.195000	0.17529	GGT		0.463	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396	Missense_Mutation	6	41	0	0	0	0.001984	0	6	41				
OPN1SW	611	broad.mit.edu	37	7	128414653	128414653	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:128414653G>T	ENST00000249389.2	-	3	585	c.586C>A	c.(586-588)Cgc>Agc	p.R196S		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	196					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.R196S(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GACTCGCTGCGGTATTTGGTG	0.557																																							uc003vnt.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(586-588)CGC>AGC		opsin 1 (cone pigments), short-wave-sensitive							135.0	109.0	118.0					7																	128414653		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128414653G>T	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.586C>A	7.37:g.128414653G>T	ENSP00000249389:p.Arg196Ser						p.R196S	NM_001708	NP_001699	P03999	OPSB_HUMAN			3	586	-			196			Extracellular (Potential).		Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.586C>A	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643530	0.29246	.	.	ENSG00000128617	ENST00000249389	T	0.36699	1.24	5.23	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.499375	0.22837	N	0.055035	T	0.16854	0.0405	N	0.01109	-1.01	0.39533	D	0.968702	B	0.26547	0.152	B	0.37650	0.255	T	0.16188	-1.0411	10	0.72032	D	0.01	.	8.7407	0.34556	0.1894:0.0:0.8106:0.0	.	196	P03999	OPSB_HUMAN	S	196	ENSP00000249389:R196S	ENSP00000249389:R196S	R	-	1	0	OPN1SW	128201889	0.002000	0.14202	0.831000	0.32960	0.222000	0.24845	0.646000	0.24797	0.760000	0.33108	-0.140000	0.14226	CGC		0.557	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		13	53	1	0	5.50884e-06	0.001368	7.18716e-06	13	53				
CPA5	93979	broad.mit.edu	37	7	130007240	130007240	+	Nonsense_Mutation	SNP	C	C	A	rs371529281		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:130007240C>A	ENST00000485477.1	+	10	1995	c.866C>A	c.(865-867)tCa>tAa	p.S289*	CPA5_ENST00000466363.2_Nonsense_Mutation_p.S289*|CPA5_ENST00000393213.3_Nonsense_Mutation_p.S289*|CPA5_ENST00000355388.3_Nonsense_Mutation_p.S289*|CPA5_ENST00000474905.1_Nonsense_Mutation_p.S289*|CPA5_ENST00000431780.2_Nonsense_Mutation_p.S289*|CPA5_ENST00000461828.1_Nonsense_Mutation_p.S289*			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	289						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S289*(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					AACCCCTGCTCAGAAACTTAT	0.522																																							uc010lmd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(865-867)TCA>TAA		carboxypeptidase A5 isoform 1							53.0	54.0	54.0					7																	130007240		2203	4300	6503	SO:0001587	stop_gained	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130007240C>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.866C>A	7.37:g.130007240C>A	ENSP00000420237:p.Ser289*					CPA5_uc003vps.2_Nonsense_Mutation_p.S289*|CPA5_uc003vpt.2_Nonsense_Mutation_p.S289*|CPA5_uc010lme.1_Nonsense_Mutation_p.S289*|CPA5_uc003vpu.1_Nonsense_Mutation_p.S289*|uc003vpv.1_RNA	p.S289*	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN			12	1486	+	Melanoma(18;0.0435)		289					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Nonsense_Mutation	SNP	ENST00000485477.1	37	c.866C>A	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	C	40	8.332458	0.98764	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	.	.	.	5.87	5.87	0.94306	.	0.000000	0.49916	D	0.000124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2073	0.93736	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	.	S	+	2	0	CPA5	129794476	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	4.864000	0.62990	2.780000	0.95670	0.655000	0.94253	TCA		0.522	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		4	38	1	0	0.00909568	0.009096	0.00969496	4	38				
LRGUK	136332	broad.mit.edu	37	7	133884105	133884105	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:133884105C>A	ENST00000285928.2	+	14	1748	c.1679C>A	c.(1678-1680)tCc>tAc	p.S560Y		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	560	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.S560Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTTGCTGTCTCCAGAGTGGAC	0.363																																							uc003vrm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(1678-1680)TCC>TAC		leucine-rich repeats and guanylate kinase domain							99.0	112.0	107.0					7																	133884105		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133884105C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1679C>A	7.37:g.133884105C>A	ENSP00000285928:p.Ser560Tyr						p.S560Y	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			14	1695	+			560			Guanylate kinase-like.		Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1679C>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036867	0.75617	.	.	ENSG00000155530	ENST00000285928	T	0.18016	2.24	6.07	6.07	0.98685	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.063724	0.64402	D	0.000005	T	0.39489	0.1080	L	0.59436	1.845	0.41663	D	0.989192	D	0.76494	0.999	D	0.75484	0.986	T	0.04579	-1.0941	10	0.87932	D	0	-19.1526	15.818	0.78618	0.1365:0.8635:0.0:0.0	.	560	Q96M69	LRGUK_HUMAN	Y	560	ENSP00000285928:S560Y	ENSP00000285928:S560Y	S	+	2	0	LRGUK	133534645	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.718000	0.61930	2.884000	0.98904	0.655000	0.94253	TCC		0.363	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		35	93	1	0	1.30998e-17	0.005524	2.36056e-17	35	93				
LRGUK	136332	broad.mit.edu	37	7	133948696	133948696	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:133948696C>A	ENST00000285928.2	+	20	2516	c.2447C>A	c.(2446-2448)aCc>aAc	p.T816N		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	816						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.T816N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GTCAAACCCACCCTCCCTCCA	0.498																																							uc003vrm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(2446-2448)ACC>AAC		leucine-rich repeats and guanylate kinase domain							149.0	110.0	123.0					7																	133948696		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133948696C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2447C>A	7.37:g.133948696C>A	ENSP00000285928:p.Thr816Asn						p.T816N	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			20	2463	+			816					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.2447C>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373321	0.24857	.	.	ENSG00000155530	ENST00000285928	T	0.38240	1.15	5.12	-0.455	0.12193	.	0.928779	0.09140	N	0.843137	T	0.27134	0.0665	L	0.29908	0.895	0.26514	N	0.974544	P	0.44578	0.838	B	0.41813	0.367	T	0.22208	-1.0223	10	0.66056	D	0.02	-0.13	8.4021	0.32592	0.0:0.3312:0.0:0.6688	.	816	Q96M69	LRGUK_HUMAN	N	816	ENSP00000285928:T816N	ENSP00000285928:T816N	T	+	2	0	LRGUK	133599236	0.000000	0.05858	0.964000	0.40570	0.421000	0.31385	-1.420000	0.02457	-0.138000	0.11434	-0.793000	0.03317	ACC		0.498	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		23	19	1	0	1.64293e-13	0.00333	2.78476e-13	23	19				
EPHB6	2051	broad.mit.edu	37	7	142564763	142564763	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:142564763C>G	ENST00000392957.2	+	11	2474	c.1687C>G	c.(1687-1689)Cgg>Ggg	p.R563G	EPHB6_ENST00000411471.2_Missense_Mutation_p.R286G|EPHB6_ENST00000442129.1_Missense_Mutation_p.R563G	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	563	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.R548G(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGTGCGGGCCCGGACTGCTGC	0.627																																							uc011kst.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1687-1689)CGG>GGG		ephrin receptor EphB6 precursor							65.0	61.0	62.0					7																	142564763		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564763C>G	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1687C>G	7.37:g.142564763C>G	ENSP00000376684:p.Arg563Gly					EPHB6_uc011ksu.1_Missense_Mutation_p.R563G|EPHB6_uc003wbs.2_Missense_Mutation_p.R271G|EPHB6_uc003wbt.2_Missense_Mutation_p.R37G|EPHB6_uc003wbu.2_Missense_Mutation_p.R271G|EPHB6_uc003wbv.2_5'Flank	p.R563G	NM_004445	NP_004436	O15197	EPHB6_HUMAN			11	2474	+	Melanoma(164;0.059)		563			Fibronectin type-III 2.|Extracellular (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1687C>G	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672859	0.67928	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.58652	0.32;0.32;0.32	5.12	4.22	0.49857	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000422	T	0.77772	0.4180	M	0.87900	2.915	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.977	T	0.81335	-0.0979	10	0.87932	D	0	.	12.5406	0.56167	0.3425:0.6575:0.0:0.0	.	563;286	O15197;O15197-2	EPHB6_HUMAN;.	G	563;563;286	ENSP00000376684:R563G;ENSP00000410789:R563G;ENSP00000409061:R286G	ENSP00000376684:R563G	R	+	1	2	EPHB6	142274885	0.932000	0.31603	0.841000	0.33234	0.793000	0.44817	2.093000	0.41710	1.090000	0.41315	-0.410000	0.06199	CGG		0.627	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			12	45	0	0	0	0.001368	0	12	45				
TRPV6	55503	broad.mit.edu	37	7	142571321	142571321	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:142571321G>C	ENST00000359396.3	-	13	1913	c.1668C>G	c.(1666-1668)agC>agG	p.S556R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	556					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.S556R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CATAGGTGATGCTGTACATGA	0.567																																							uc003wbx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1666-1668)AGC>AGG		transient receptor potential cation channel,							262.0	202.0	222.0					7																	142571321		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571321G>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1668C>G	7.37:g.142571321G>C	ENSP00000352358:p.Ser556Arg					TRPV6_uc003wbw.1_Missense_Mutation_p.S342R|TRPV6_uc010lou.1_Missense_Mutation_p.S427R	p.S556R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			13	1884	-	Melanoma(164;0.059)		556					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1668C>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526844	0.27299	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.85556	-2.0	5.57	3.75	0.43078	Ion transport (1);	0.309841	0.41097	D	0.000958	D	0.86928	0.6051	M	0.73962	2.25	0.38589	D	0.950371	B	0.29341	0.242	B	0.42593	0.392	D	0.84327	0.0519	10	0.25106	T	0.35	-17.9317	11.8537	0.52425	0.1447:0.0:0.8553:0.0	.	556	Q9H1D0	TRPV6_HUMAN	R	556;388	ENSP00000352358:S556R	ENSP00000310825:S388R	S	-	3	2	TRPV6	142281443	0.888000	0.30383	0.998000	0.56505	0.103000	0.19146	1.708000	0.37899	1.349000	0.45751	-0.150000	0.13652	AGC		0.567	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		19	68	0	0	0	0.007413	0	19	68				
CLCN1	1180	broad.mit.edu	37	7	143047529	143047529	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:143047529A>T	ENST00000343257.2	+	21	2555	c.2468A>T	c.(2467-2469)cAg>cTg	p.Q823L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	823	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.Q823L(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGTATTGACCAGTCTCCCTTC	0.562																																							uc003wcr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2467-2469)CAG>CTG		chloride channel 1, skeletal muscle							121.0	99.0	106.0					7																	143047529		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143047529A>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2468A>T	7.37:g.143047529A>T	ENSP00000339867:p.Gln823Leu					CLCN1_uc011ktc.1_Missense_Mutation_p.Q435L	p.Q823L	NM_000083	NP_000074	P35523	CLCN1_HUMAN			21	2555	+	Melanoma(164;0.205)		823			CBS 2.|Cytoplasmic (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2468A>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051438	0.55218	.	.	ENSG00000188037	ENST00000343257	D	0.87809	-2.3	4.52	2.0	0.26442	Cystathionine beta-synthase, core (1);	0.187889	0.48286	D	0.000194	T	0.78413	0.4279	N	0.17474	0.49	0.44261	D	0.997115	P;P	0.39862	0.692;0.611	B;B	0.41691	0.364;0.103	T	0.78588	-0.2146	10	0.87932	D	0	.	11.2616	0.49087	0.4002:0.5998:0.0:0.0	.	22;823	Q75L28;P35523	.;CLCN1_HUMAN	L	823	ENSP00000339867:Q823L	ENSP00000339867:Q823L	Q	+	2	0	CLCN1	142757651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.608000	0.61141	0.742000	0.32697	0.379000	0.24179	CAG		0.562	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		5	27	0	0	0	0.000602	0	5	27				
CLCN1	1180	broad.mit.edu	37	7	143047730	143047730	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:143047730G>T	ENST00000343257.2	+	22	2665	c.2578G>T	c.(2578-2580)Gtc>Ttc	p.V860F		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	860	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.V860F(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCTCAGGGGCGTCCTGGCCCT	0.557																																							uc003wcr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2578-2580)GTC>TTC		chloride channel 1, skeletal muscle							186.0	157.0	167.0					7																	143047730		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143047730G>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2578G>T	7.37:g.143047730G>T	ENSP00000339867:p.Val860Phe					CLCN1_uc011ktc.1_Missense_Mutation_p.V472F	p.V860F	NM_000083	NP_000074	P35523	CLCN1_HUMAN			22	2665	+	Melanoma(164;0.205)		860			CBS 2.|Cytoplasmic (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2578G>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310559	0.81358	.	.	ENSG00000188037	ENST00000343257	D	0.89270	-2.49	4.16	4.16	0.48862	Cystathionine beta-synthase, core (1);	0.150828	0.45361	D	0.000378	D	0.94584	0.8255	M	0.83774	2.66	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95229	0.8341	10	0.62326	D	0.03	.	17.0049	0.86390	0.0:0.0:1.0:0.0	.	59;860	Q75L28;P35523	.;CLCN1_HUMAN	F	860	ENSP00000339867:V860F	ENSP00000339867:V860F	V	+	1	0	CLCN1	142757852	1.000000	0.71417	0.989000	0.46669	0.878000	0.50629	8.875000	0.92372	2.331000	0.79229	0.462000	0.41574	GTC		0.557	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		20	124	1	0	2.37509e-13	0.010504	4.01176e-13	20	124				
ZYX	7791	broad.mit.edu	37	7	143078840	143078840	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:143078840G>T	ENST00000322764.5	+	2	521	c.176G>T	c.(175-177)cGg>cTg	p.R59L	AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'Flank|ZYX_ENST00000449423.2_Missense_Mutation_p.R3L	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	59					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R59L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CAGATGGGCCGGGTGGGCGAG	0.721																																							uc003wcw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(175-177)CGG>CTG		zyxin							3.0	4.0	4.0					7																	143078840		1858	3839	5697	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143078840G>T	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.176G>T	7.37:g.143078840G>T	ENSP00000324422:p.Arg59Leu					ZYX_uc011ktd.1_Intron|ZYX_uc003wcx.2_Missense_Mutation_p.R59L|ZYX_uc011kte.1_Missense_Mutation_p.R59L|ZYX_uc011ktf.1_5'Flank	p.R59L	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			2	331	+	Melanoma(164;0.205)		59					A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.176G>T	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075350	0.36662	.	.	ENSG00000159840	ENST00000322764;ENST00000457235;ENST00000354434;ENST00000449423	T;T;T	0.58210	0.37;0.41;0.35	4.0	2.83	0.33086	.	2.003110	0.04156	U	0.322135	T	0.48995	0.1531	L	0.47716	1.5	0.35818	D	0.824356	P;P	0.43024	0.798;0.798	B;B	0.41299	0.353;0.353	T	0.53676	-0.8405	10	0.30854	T	0.27	.	8.7237	0.34456	0.207:0.0:0.793:0.0	.	3;59	B4DQR8;Q15942	.;ZYX_HUMAN	L	59;59;58;3	ENSP00000324422:R59L;ENSP00000346417:R58L;ENSP00000394158:R3L	ENSP00000324422:R59L	R	+	2	0	ZYX	142788962	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	3.319000	0.51983	1.773000	0.52216	0.313000	0.20887	CGG		0.721	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		4	8	1	0	0.00024832	0.009096	0.000292993	4	8				
CNTNAP2	26047	broad.mit.edu	37	7	147092746	147092746	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:147092746C>A	ENST00000361727.3	+	10	2060	c.1544C>A	c.(1543-1545)cCt>cAt	p.P515H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	515	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.P515H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCCTTCAGCCTTCATTCCAA	0.423										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1543-1545)CCT>CAT		cell recognition molecule Caspr2 precursor							193.0	181.0	185.0					7																	147092746		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092746C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1544C>A	7.37:g.147092746C>A	ENSP00000354778:p.Pro515His	HNSCC(39;0.1)					p.P515H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2060	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	515			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1544C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619070	0.28801	.	.	ENSG00000174469	ENST00000361727	T	0.80214	-1.35	5.27	3.4	0.38934	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.246554	0.28577	N	0.014844	T	0.53674	0.1811	N	0.02539	-0.55	0.51482	D	0.999924	B	0.22800	0.075	B	0.25759	0.063	T	0.48163	-0.9059	10	0.39692	T	0.17	.	4.0129	0.09631	0.2478:0.5372:0.1327:0.0824	.	515	Q9UHC6	CNTP2_HUMAN	H	515	ENSP00000354778:P515H	ENSP00000354778:P515H	P	+	2	0	CNTNAP2	146723679	0.955000	0.32602	0.933000	0.37362	0.966000	0.64601	1.822000	0.39052	1.234000	0.43709	0.591000	0.81541	CCT		0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			28	115	1	0	2.81731e-10	0.002096	4.47329e-10	28	115				
CNTNAP2	26047	broad.mit.edu	37	7	147092781	147092781	+	Missense_Mutation	SNP	G	G	T	rs375957682		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:147092781G>T	ENST00000361727.3	+	10	2095	c.1579G>T	c.(1579-1581)Gac>Tac	p.D527Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	527	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D527Y(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATTCAAGTGGACGATCAACT	0.428										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1579-1581)GAC>TAC		cell recognition molecule Caspr2 precursor							187.0	174.0	178.0					7																	147092781		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092781G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1579G>T	7.37:g.147092781G>T	ENSP00000354778:p.Asp527Tyr	HNSCC(39;0.1)					p.D527Y	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2095	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	527			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1579G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209014	0.79240	.	.	ENSG00000174469	ENST00000361727	T	0.80994	-1.44	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000002	D	0.90779	0.7105	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92164	0.5738	10	0.87932	D	0	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	527	Q9UHC6	CNTP2_HUMAN	Y	527	ENSP00000354778:D527Y	ENSP00000354778:D527Y	D	+	1	0	CNTNAP2	146723714	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC		0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			30	89	1	0	2.61193e-14	0.009535	4.48464e-14	30	89				
CNTNAP2	26047	broad.mit.edu	37	7	147259350	147259350	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:147259350G>T	ENST00000361727.3	+	12	2413		c.e12+1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.?(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AACATGACAGGTAACTGTGTC	0.393										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Unknown(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.e12+1		cell recognition molecule Caspr2 precursor							103.0	102.0	103.0					7																	147259350		2203	4300	6503	SO:0001630	splice_region_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259350G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1897+1G>T	7.37:g.147259350G>T		HNSCC(39;0.1)					p.E633_splice	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2413	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)						D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Splice_Site	SNP	ENST00000361727.3	37	c.1897_splice	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109729	0.94292	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9092	0.92475	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP2	146890283	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.662000	0.98603	2.797000	0.96272	0.655000	0.94253	.		0.393	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		Intron	9	64	1	0	1.58986e-06	0.008291	2.14735e-06	9	64				
CNTNAP2	26047	broad.mit.edu	37	7	148080826	148080826	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:148080826C>A	ENST00000361727.3	+	22	4077	c.3561C>A	c.(3559-3561)atC>atA	p.I1187I	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.I246I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1187	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.I1187I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAACCAGATCGCCCCTCTCA	0.552										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3559-3561)ATC>ATA		cell recognition molecule Caspr2 precursor							57.0	56.0	57.0					7																	148080826		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148080826C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3561C>A	7.37:g.148080826C>A		HNSCC(39;0.1)				CNTNAP2_uc003wev.1_5'UTR	p.I1187I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		22	4077	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1187			Laminin G-like 4.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3561C>A	CCDS5889.1																																																																																				0.552	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			10	31	1	0	7.48243e-07	0.006214	1.03265e-06	10	31				
SSPO	23145	broad.mit.edu	37	7	149509063	149509063	+	RNA	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:149509063G>A	ENST00000378016.2	+	0	9609							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTGCCCGGTGCCATCGGC	0.697																																							uc010lpk.2		NA																	0					0						c.(9607-9609)CGG>CGA		SCO-spondin precursor							27.0	32.0	31.0					7																	149509063		2008	4158	6166			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509063G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509063G>A							p.R3203R	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		69	9609	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3203			TSP type-1 11.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.9609G>A																																																																																					0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	24	0	0	0	0.004672	0	3	24				
SSPO	23145	broad.mit.edu	37	7	149521636	149521636	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:149521636C>T	ENST00000378016.2	+	0	13715							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCTGGCTTCAGAGCAGCAC	0.711																																							uc010lpk.2		NA																	0					0						c.(13714-13716)TCA>TTA		SCO-spondin precursor							20.0	25.0	23.0					7																	149521636		1970	4138	6108			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149521636C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149521636C>T						SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	p.S4572L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		96	13715	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4572					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.13715C>T																																																																																					0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	24	0	0	0	0.004482	0	8	24				
KMT2C	58508	broad.mit.edu	37	7	151970887	151970887	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:151970887C>A	ENST00000262189.6	-	7	1133	c.915G>T	c.(913-915)atG>atT	p.M305I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M305I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	305					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M305I(4)									GATAATGATACATCTGGGTAC	0.433																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		4	Substitution - Missense(4)		lung(4)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(913-915)ATG>ATT		myeloid/lymphoid or mixed-lineage leukemia 3							172.0	161.0	165.0					7																	151970887		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151970887C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.915G>T	7.37:g.151970887C>A	ENSP00000262189:p.Met305Ile						p.M305I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	7	1134	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	305					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.915G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435571	0.25813	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.70282	-0.47;-0.47	4.87	-0.275	0.12906	Zinc finger, PHD-type (1);	0.355351	0.23135	N	0.051522	T	0.41259	0.1151	N	0.11789	0.175	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.04078	-1.0979	10	0.18276	T	0.48	.	2.0738	0.03619	0.1241:0.4774:0.1206:0.2778	.	305	Q8NEZ4	MLL3_HUMAN	I	305	ENSP00000262189:M305I;ENSP00000347325:M305I	ENSP00000262189:M305I	M	-	3	0	MLL3	151601820	0.990000	0.36364	0.897000	0.35233	0.998000	0.95712	0.738000	0.26158	-0.281000	0.09141	0.650000	0.86243	ATG		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	110	1	0	1.23904e-05	0.000602	1.57558e-05	5	110				
DPP6	1804	broad.mit.edu	37	7	154684122	154684122	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:154684122G>T	ENST00000377770.3	+	26	2671	c.2530G>T	c.(2530-2532)Gtg>Ttg	p.V844L	DPP6_ENST00000427557.1_Missense_Mutation_p.V737L|DPP6_ENST00000404039.1_Missense_Mutation_p.V780L|DPP6_ENST00000332007.3_Missense_Mutation_p.V782L			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	844					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.V782L(1)|p.V780L(1)|p.V844L(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAACTTCTTCGTGGAATGCTT	0.512																																					NSCLC(125;1384 1783 2490 7422 34254)	NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(2530-2532)GTG>TTG		dipeptidyl-peptidase 6 isoform 1							131.0	139.0	137.0					7																	154684122		2111	4233	6344	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154684122G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2530G>T	7.37:g.154684122G>T	ENSP00000367001:p.Val844Leu					DPP6_uc003wli.2_Missense_Mutation_p.V780L|DPP6_uc003wlm.2_Missense_Mutation_p.V782L|DPP6_uc011kvq.1_Missense_Mutation_p.V737L	p.V844L	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		26	2659	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	844			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.2530G>T		.	.	.	.	.	.	.	.	.	.	G	19.66	3.869981	0.72065	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.66	4.66	0.58398	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.247317	0.39909	N	0.001237	T	0.36635	0.0974	L	0.31476	0.935	0.41025	D	0.985113	P;P;P;P	0.40578	0.468;0.509;0.722;0.565	B;B;B;B	0.40741	0.339;0.095;0.154;0.154	T	0.27191	-1.0081	10	0.42905	T	0.14	-13.9801	17.5681	0.87926	0.0:0.0:1.0:0.0	.	737;782;844;780	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	L	780;844;782;737	ENSP00000385578:V780L;ENSP00000367001:V844L;ENSP00000328226:V782L;ENSP00000397303:V737L	ENSP00000328226:V782L	V	+	1	0	DPP6	154315055	1.000000	0.71417	0.994000	0.49952	0.809000	0.45718	8.800000	0.91900	2.147000	0.66899	0.655000	0.94253	GTG		0.512	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		10	44	1	0	3.86212e-05	0.008291	4.78167e-05	10	44				
PTPRN2	5799	broad.mit.edu	37	7	157414075	157414075	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:157414075G>T	ENST00000389418.4	-	15	2332	c.2323C>A	c.(2323-2325)Cgc>Agc	p.R775S	PTPRN2_ENST00000409483.1_Missense_Mutation_p.R737S|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R746S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R758S|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R798S	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	775	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCAGGGAGCGGTTCTTGGGC	0.657																																							uc003wno.2		NA																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(2323-2325)CGC>AGC		protein tyrosine phosphatase, receptor type, N							157.0	155.0	156.0					7																	157414075		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157414075G>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2323C>A	7.37:g.157414075G>T	ENSP00000374069:p.Arg775Ser					PTPRN2_uc003wnp.2_Missense_Mutation_p.R758S|PTPRN2_uc003wnq.2_Missense_Mutation_p.R746S|PTPRN2_uc003wnr.2_Missense_Mutation_p.R737S|PTPRN2_uc011kwa.1_Missense_Mutation_p.R798S	p.R775S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	15	2444	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	775			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.2323C>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659041	0.67586	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	4.94	4.94	0.65067	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000001	D	0.97807	0.9280	H	0.99719	4.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0	D	0.99880	1.1111	10	0.87932	D	0	.	17.7975	0.88577	0.0:0.0:1.0:0.0	.	798;737;746;758;775	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	S	737;746;758;775;798	ENSP00000387114:R737S;ENSP00000374064:R746S;ENSP00000374067:R758S;ENSP00000374069:R775S;ENSP00000385464:R798S	ENSP00000374064:R746S	R	-	1	0	PTPRN2	157106836	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	6.761000	0.74945	2.277000	0.76020	0.557000	0.71058	CGC		0.657	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			41	165	1	0	1.96642e-18	0.006999	3.58785e-18	41	165				
MYOM2	9172	broad.mit.edu	37	8	2044234	2044234	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:2044234A>T	ENST00000262113.4	+	18	2414	c.2273A>T	c.(2272-2274)cAc>cTc	p.H758L	MYOM2_ENST00000523438.1_Missense_Mutation_p.H183L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	758	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.H758L(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAAAACTGGCACGAGGTCAAT	0.498																																							uc003wpx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2272-2274)CAC>CTC		myomesin 2							100.0	88.0	92.0					8																	2044234		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2044234A>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2273A>T	8.37:g.2044234A>T	ENSP00000262113:p.His758Leu					MYOM2_uc011kwi.1_Missense_Mutation_p.H183L	p.H758L	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	18	2411	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	758			Fibronectin type-III 4.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2273A>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750810	0.69533	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.56275	0.47;0.47	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.146906	0.56097	D	0.000023	T	0.57592	0.2064	N	0.25957	0.775	0.50171	D	0.99985	D	0.56521	0.976	P	0.60286	0.872	T	0.60875	-0.7176	10	0.54805	T	0.06	.	15.5315	0.75968	1.0:0.0:0.0:0.0	.	758	P54296	MYOM2_HUMAN	L	758;183	ENSP00000262113:H758L;ENSP00000428396:H183L	ENSP00000262113:H758L	H	+	2	0	MYOM2	2031641	1.000000	0.71417	0.993000	0.49108	0.137000	0.21094	6.590000	0.74085	2.067000	0.61834	0.454000	0.30748	CAC		0.498	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		6	37	0	0	0	0.001168	0	6	37				
CSMD1	64478	broad.mit.edu	37	8	2944759	2944759	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:2944759T>C	ENST00000520002.1	-	50	7892	c.7337A>G	c.(7336-7338)aAc>aGc	p.N2446S	CSMD1_ENST00000602723.1_Missense_Mutation_p.N2446S|CSMD1_ENST00000542608.1_Missense_Mutation_p.N2445S|CSMD1_ENST00000602557.1_Missense_Mutation_p.N2446S|CSMD1_ENST00000537824.1_Missense_Mutation_p.N2445S|CSMD1_ENST00000400186.3_Missense_Mutation_p.N2446S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2446	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.N2174S(1)|p.N2445S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGTCCTGTTTAGAATACC	0.493																																							uc011kwk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(7336-7338)AAC>AGC		CUB and Sushi multiple domains 1 precursor							96.0	96.0	96.0					8																	2944759		1961	4157	6118	SO:0001583	missense	64478					integral to membrane		g.chr8:2944759T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7337A>G	8.37:g.2944759T>C	ENSP00000430733:p.Asn2446Ser					CSMD1_uc011kwj.1_Missense_Mutation_p.N1775S|CSMD1_uc010lrg.2_Missense_Mutation_p.N514S	p.N2446S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	49	7727	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2446			Sushi 14.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7337A>G		.	.	.	.	.	.	.	.	.	.	T	0.013	-1.623864	0.00820	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.57	5.57	0.84162	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	N	0.17082	0.46	0.80722	D	1	B;B;D	0.76494	0.122;0.007;0.999	B;B;D	0.81914	0.112;0.07;0.995	T	0.02966	-1.1088	10	0.05436	T	0.98	.	15.7009	0.77541	0.0:0.0:0.0:1.0	.	2446;2446;2445	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	S	2446;2446;2307;2445;2445	ENSP00000383047:N2446S;ENSP00000430733:N2446S;ENSP00000441462:N2445S;ENSP00000446243:N2445S	ENSP00000320445:N2307S	N	-	2	0	CSMD1	2932166	1.000000	0.71417	0.202000	0.23494	0.008000	0.06430	3.237000	0.51344	2.107000	0.64212	0.379000	0.24179	AAC		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		16	49	0	0	0	0.00499	0	16	49				
ZNF705B	100132396	broad.mit.edu	37	8	7808224	7808224	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:7808224C>G	ENST00000400120.3	+	6	555	c.273C>G	c.(271-273)tcC>tcG	p.S91S	ZNF705B_ENST00000443676.1_Silent_p.S91S	NM_001193630.1	NP_001180559.1	P0CI00	Z705B_HUMAN	zinc finger protein 705B	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S91S(2)		kidney(2)|lung(2)	4						ACATGATATCCATGCATCCTA	0.328																																							uc010lro.1		NA																	2	Substitution - coding silent(2)		lung(2)		NA						c.(271-273)TCC>TCG		zinc finger protein 705D																																				SO:0001819	synonymous_variant	0							g.chr8:7808224C>G		CCDS55194.1	8p23.1	2013-01-08			ENSG00000215356	ENSG00000215356		"""Zinc fingers, C2H2-type"", ""-"""	32284	protein-coding gene	gene with protein product							Standard	NM_001193630		Approved		uc010lro.1	P0CI00	OTTHUMG00000165401	ENST00000400120.3:c.273C>G	8.37:g.7808224C>G							p.S91S	NM_001039615	NP_001034704					6	555	+								A8K971|A8MY01	Silent	SNP	ENST00000400120.3	37	c.273C>G	CCDS55194.1																																																																																				0.328	ZNF705B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383804.1	NM_001193630		18	40	0	0	0	0.006122	0	18	40				
C8orf74	203076	broad.mit.edu	37	8	10555378	10555378	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:10555378C>G	ENST00000304519.5	+	3	540	c.511C>G	c.(511-513)Ctg>Gtg	p.L171V	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	171								p.L171V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GGTGGCCACACTGACGGAGGC	0.682																																							uc003wtd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(511-513)CTG>GTG		hypothetical protein LOC203076							35.0	38.0	37.0					8																	10555378		2130	4241	6371	SO:0001583	missense	203076							g.chr8:10555378C>G	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.511C>G	8.37:g.10555378C>G	ENSP00000307129:p.Leu171Val					C8orf74_uc003wte.1_RNA	p.L171V	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	540	+			171					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.511C>G	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391232	0.62066	.	.	ENSG00000171060	ENST00000304519	T	0.36340	1.26	5.24	5.24	0.73138	.	0.000000	0.52532	D	0.000075	T	0.59059	0.2166	M	0.71581	2.175	0.20873	N	0.999837	D	0.89917	1.0	D	0.85130	0.997	T	0.54754	-0.8246	10	0.72032	D	0.01	.	14.3221	0.66493	0.0:1.0:0.0:0.0	.	171	Q6P047	CH074_HUMAN	V	171	ENSP00000307129:L171V	ENSP00000307129:L171V	L	+	1	2	C8orf74	10592788	0.933000	0.31639	0.049000	0.19019	0.001000	0.01503	3.005000	0.49521	2.462000	0.83206	0.561000	0.74099	CTG		0.682	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		4	28	0	0	0	0.000602	0	4	28				
KIAA1456	57604	broad.mit.edu	37	8	12878740	12878740	+	Silent	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:12878740A>C	ENST00000524591.2	+	5	1041	c.552A>C	c.(550-552)ccA>ccC	p.P184P	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	184							methyltransferase activity (GO:0008168)	p.P97P(1)|p.P184P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTGGATACCCAGAAAGAGGCC	0.522																																							uc010lsq.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(550-552)CCA>CCC		hypothetical protein LOC57604 isoform 1							102.0	98.0	100.0					8																	12878740		1980	4144	6124	SO:0001819	synonymous_variant	57604						methyltransferase activity	g.chr8:12878740A>C	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.552A>C	8.37:g.12878740A>C						C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.P97P|C8orf79_uc010lsr.2_Silent_p.P58P	p.P184P	NM_020844	NP_065895	Q9P272	K1456_HUMAN			5	1044	+			184					Q96AW6	Silent	SNP	ENST00000524591.2	37	c.552A>C	CCDS47808.1																																																																																				0.522	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		9	64	0	0	0	0.004482	0	9	64				
DLC1	10395	broad.mit.edu	37	8	13357316	13357316	+	Missense_Mutation	SNP	C	C	A	rs150090193		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:13357316C>A	ENST00000276297.4	-	2	674	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	DLC1_ENST00000316609.5_Missense_Mutation_p.D89Y|DLC1_ENST00000511869.1_Missense_Mutation_p.D89Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	89					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.D89Y(5)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCATGGCTGTCATTTTCGTCC	0.443																																							uc003wwm.2		NA																	5	Substitution - Missense(5)		lung(3)|large_intestine(2)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(265-267)GAC>TAC		deleted in liver cancer 1 isoform 1							221.0	221.0	221.0					8																	13357316		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357316C>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.265G>T	8.37:g.13357316C>A	ENSP00000276297:p.Asp89Tyr					DLC1_uc003wwn.2_Missense_Mutation_p.D89Y|DLC1_uc011kxy.1_Missense_Mutation_p.D89Y	p.D89Y	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	709	-			89					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.265G>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342451	0.41498	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.32988	1.43;1.43;1.43	5.55	2.53	0.30540	.	0.302054	0.23900	N	0.043455	T	0.44705	0.1306	L	0.54323	1.7	0.35272	D	0.780576	B;D;D	0.89917	0.33;1.0;0.998	B;D;P	0.76575	0.091;0.988;0.87	T	0.54899	-0.8224	10	0.87932	D	0	.	7.0376	0.25002	0.1305:0.6749:0.1259:0.0686	.	89;89;89	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	Y	89	ENSP00000276297:D89Y;ENSP00000321034:D89Y;ENSP00000425878:D89Y	ENSP00000276297:D89Y	D	-	1	0	DLC1	13401687	1.000000	0.71417	0.714000	0.30535	0.303000	0.27691	2.066000	0.41452	0.787000	0.33731	0.655000	0.94253	GAC		0.443	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		44	211	1	0	2.46787e-29	0.00361	4.64841e-29	44	211				
BMP1	649	broad.mit.edu	37	8	22065020	22065020	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:22065020C>T	ENST00000306385.5	+	18	3236	c.2566C>T	c.(2566-2568)Cac>Tac	p.H856Y	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	856	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.H856Y(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCAGGCCTCCCACGCCACAGG	0.602																																							uc003xbg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2566-2568)CAC>TAC		bone morphogenetic protein 1 isoform 3							37.0	32.0	34.0					8																	22065020		2199	4295	6494	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22065020C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2566C>T	8.37:g.22065020C>T	ENSP00000305714:p.His856Tyr					BMP1_uc011kzc.1_Missense_Mutation_p.H605Y|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	p.H856Y	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	18	2810	+			856			CUB 4.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2566C>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	9.989	1.230185	0.22542	.	.	ENSG00000168487	ENST00000306385	T	0.14022	2.54	5.26	5.26	0.73747	CUB (4);	0.000000	0.40385	U	0.001120	T	0.04998	0.0134	N	0.01742	-0.745	0.80722	D	1	B	0.15930	0.015	B	0.29785	0.107	T	0.29336	-1.0015	10	0.02654	T	1	.	9.9775	0.41793	0.0:0.9073:0.0:0.0927	.	856	P13497	BMP1_HUMAN	Y	856	ENSP00000305714:H856Y	ENSP00000305714:H856Y	H	+	1	0	BMP1	22120965	0.993000	0.37304	0.980000	0.43619	0.543000	0.35085	3.058000	0.49939	2.457000	0.83068	0.561000	0.74099	CAC		0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		11	27	0	0	0	0.008291	0	11	27				
NEFM	4741	broad.mit.edu	37	8	24774647	24774647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:24774647C>T	ENST00000221166.5	+	3	2061	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	NEFM_ENST00000437366.2_Nonsense_Mutation_p.R427*|NEFM_ENST00000518131.1_Nonsense_Mutation_p.R427*|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_Nonsense_Mutation_p.R51*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	427	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.R427*(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTATACACACCGACCCCCAAT	0.443																																							uc003xed.3		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(1279-1281)CGA>TGA		neurofilament, medium polypeptide 150kDa isoform							65.0	64.0	64.0					8																	24774647		2203	4300	6503	SO:0001587	stop_gained	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24774647C>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1279C>T	8.37:g.24774647C>T	ENSP00000221166:p.Arg427*					NEFM_uc011lac.1_Nonsense_Mutation_p.R427*|NEFM_uc010lue.2_Nonsense_Mutation_p.R51*	p.R427*	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	1312	+		Prostate(55;0.157)	427			Tail.		B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP	ENST00000221166.5	37	c.1279C>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	36	5.817195	0.96982	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	4.92	3.91	0.45181	.	0.000000	0.38778	N	0.001576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4949	0.44772	0.4304:0.5696:0.0:0.0	.	.	.	.	X	427;427;427;51	.	ENSP00000221166:R427X	R	+	1	2	NEFM	24830552	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	4.828000	0.62730	2.421000	0.82119	0.563000	0.77884	CGA		0.443	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		8	30	0	0	0	0.004482	0	8	30				
EBF2	64641	broad.mit.edu	37	8	25715978	25715978	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:25715978G>C	ENST00000520164.1	-	14	1922	c.1385C>G	c.(1384-1386)tCt>tGt	p.S462C	EBF2_ENST00000408929.3_Missense_Mutation_p.S314C|EBF2_ENST00000535548.1_Missense_Mutation_p.S193C	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	462	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S462C(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGAGCTGGAAGAGTATCCCCG	0.517																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|skin(1)	4						c.(1384-1386)TCT>TGT		early B-cell factor 2							170.0	171.0	171.0					8																	25715978		2054	4204	6258	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715978G>C	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1385C>G	8.37:g.25715978G>C	ENSP00000430241:p.Ser462Cys					PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.S462C	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	14	1402	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	462			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1385C>G	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179565	0.57800	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.45668	0.89;0.89;0.89	5.54	5.54	0.83059	.	0.050126	0.85682	D	0.000000	T	0.37758	0.1015	N	0.25890	0.77	0.47659	D	0.99948	P	0.44478	0.836	B	0.42882	0.401	T	0.27191	-1.0081	10	0.59425	D	0.04	-3.1245	18.4615	0.90739	0.0:0.0:1.0:0.0	.	462	Q9HAK2	COE2_HUMAN	C	462;314;193	ENSP00000430241:S462C;ENSP00000386178:S314C;ENSP00000437909:S193C	ENSP00000386178:S314C	S	-	2	0	EBF2	25771895	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.985000	0.63845	2.609000	0.88269	0.655000	0.94253	TCT		0.517	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		8	39	0	0	0	0.006214	0	8	39				
FZD3	7976	broad.mit.edu	37	8	28360629	28360629	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:28360629G>T	ENST00000240093.3	+	3	577	c.99G>T	c.(97-99)ttG>ttT	p.L33F	MIR4288_ENST00000582598.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.L33F	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	33	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L33F(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CTATTACCTTGAGGATGTGCC	0.433																																							uc003xgx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(97-99)TTG>TTT		frizzled 3 precursor							253.0	223.0	233.0					8																	28360629		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28360629G>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.99G>T	8.37:g.28360629G>T	ENSP00000240093:p.Leu33Phe					FZD3_uc010lvb.2_Missense_Mutation_p.L33F	p.L33F	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	3	577	+		Ovarian(32;2.06e-05)	33			FZ.|Extracellular (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.99G>T	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310107	0.81358	.	.	ENSG00000104290	ENST00000537916;ENST00000523546;ENST00000240093	T;T;T	0.81415	-1.49;-0.6;-1.49	5.68	5.68	0.88126	Frizzled domain (5);	0.000000	0.64402	D	0.000001	D	0.86802	0.6020	L	0.49350	1.555	0.54753	D	0.999985	D	0.63880	0.993	D	0.68765	0.96	D	0.87557	0.2469	10	0.87932	D	0	.	16.4948	0.84237	0.0:0.0:1.0:0.0	.	33	Q9NPG1	FZD3_HUMAN	F	33	ENSP00000437489:L33F;ENSP00000430125:L33F;ENSP00000240093:L33F	ENSP00000240093:L33F	L	+	3	2	FZD3	28416548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.508000	0.60441	2.676000	0.91093	0.561000	0.74099	TTG		0.433	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		14	71	1	0	1.33834e-09	0.007413	2.07964e-09	14	71				
NRG1	3084	broad.mit.edu	37	8	32585597	32585597	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:32585597G>A	ENST00000405005.3	+	6	632		c.e6+1		NRG1_ENST00000523079.1_Splice_Site|NRG1_ENST00000287845.5_Splice_Site|NRG1_ENST00000520502.2_Splice_Site|NRG1_ENST00000287842.3_Splice_Site|NRG1_ENST00000338921.4_Splice_Site|NRG1_ENST00000356819.4_Splice_Site|NRG1_ENST00000521670.1_Splice_Site|NRG1_ENST00000539990.1_Splice_Site|NRG1_ENST00000341377.5_Splice_Site|NRG1_ENST00000520407.1_Splice_Site|NRG1_ENST00000519301.1_Splice_Site			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.?(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACTTGTGCAAGTAAGAAAAGA	0.388																																							uc003xiv.2		NA																	4	Unknown(4)		lung(4)		0						c.e6+1		neuregulin 1 isoform HRG-alpha							122.0	116.0	118.0					8																	32585597		2203	4300	6503	SO:0001630	splice_region_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32585597G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.632+1G>A	8.37:g.32585597G>A						NRG1_uc003xip.2_Splice_Site_p.K392_splice|NRG1_uc003xir.2_Silent_p.K211K|NRG1_uc010lvl.2_Silent_p.K194K|NRG1_uc010lvm.2_Silent_p.K177K|NRG1_uc010lvn.2_Splice_Site_p.K177_splice|NRG1_uc003xis.2_Splice_Site_p.K211_splice|NRG1_uc011lbf.1_Splice_Site_p.K211_splice|NRG1_uc010lvo.2_Splice_Site_p.K211_splice|NRG1_uc003xiu.2_Splice_Site_p.K211_splice|NRG1_uc003xiw.2_Splice_Site_p.K211_splice|NRG1_uc003xit.2_Splice_Site_p.K211_splice|NRG1_uc010lvr.2_Splice_Site|NRG1_uc010lvs.2_Splice_Site|NRG1_uc010lvp.2_Splice_Site_p.K160_splice|NRG1_uc010lvq.2_Splice_Site_p.K143_splice|NRG1_uc003xix.2_Splice_Site_p.K101_splice|NRG1_uc003xiy.2_Splice_Site_p.K266_splice|NRG1_uc010lvt.2_Intron|NRG1_uc011lbg.1_Splice_Site_p.K57_splice|NRG1_uc011lbh.1_Splice_Site_p.K57_splice|NRG1_uc003xiz.1_Splice_Site|NRG1_uc003xja.2_Splice_Site_p.K14_splice	p.K211_splice	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	6	1149	+		Breast(100;0.203)						A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Splice_Site	SNP	ENST00000405005.3	37	c.632_splice	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197713	0.79015	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000518206;ENST00000520502;ENST00000518084;ENST00000522402;ENST00000519240;ENST00000539990	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1617	0.89710	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRG1	32705139	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.030000	0.70903	2.814000	0.96858	0.585000	0.79938	.		0.388	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		Intron	12	39	0	0	0	0.000978	0	12	39				
NRG1	3084	broad.mit.edu	37	8	32617782	32617782	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:32617782G>A	ENST00000405005.3	+	11	1126	c.1126G>A	c.(1126-1128)Gta>Ata	p.V376I	NRG1_ENST00000523079.1_Missense_Mutation_p.V373I|NRG1_ENST00000287845.5_Missense_Mutation_p.V347I|NRG1_ENST00000287842.3_Missense_Mutation_p.V373I|NRG1_ENST00000338921.4_Missense_Mutation_p.V384I|NRG1_ENST00000356819.4_Missense_Mutation_p.V381I|NRG1_ENST00000521670.1_Missense_Mutation_p.V376I|NRG1_ENST00000539990.1_Missense_Mutation_p.V219I|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.V326I			Q02297	NRG1_HUMAN	neuregulin 1	376					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V381I(1)|p.V376I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GATGTCATCCGTAGAAAACAG	0.527																																							uc003xiv.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1126-1128)GTA>ATA		neuregulin 1 isoform HRG-alpha							122.0	124.0	124.0					8																	32617782		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32617782G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1126G>A	8.37:g.32617782G>A	ENSP00000384620:p.Val376Ile					NRG1_uc011lbf.1_Missense_Mutation_p.V373I|NRG1_uc010lvo.2_Missense_Mutation_p.V373I|NRG1_uc003xiu.2_Missense_Mutation_p.V381I|NRG1_uc003xiw.2_Missense_Mutation_p.V373I|NRG1_uc003xit.2_Missense_Mutation_p.V376I|NRG1_uc010lvr.2_Missense_Mutation_p.V118I|NRG1_uc010lvs.2_Missense_Mutation_p.V118I|NRG1_uc010lvp.2_Missense_Mutation_p.V330I|NRG1_uc010lvq.2_Missense_Mutation_p.V313I|NRG1_uc011lbg.1_Missense_Mutation_p.V222I|NRG1_uc011lbh.1_Missense_Mutation_p.V219I|NRG1_uc003xja.2_Missense_Mutation_p.V187I	p.V376I	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	11	1643	+		Breast(100;0.203)	376			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1126G>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608322	0.46527	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.92	4.87	0.63330	Neuregulin 1-related, C-terminal (1);	0.197871	0.42821	D	0.000645	T	0.46795	0.1411	L	0.33485	1.01	0.42253	D	0.991984	B;B;B;B;B;B;B;B;B;B;B	0.28880	0.008;0.046;0.032;0.011;0.025;0.057;0.226;0.011;0.014;0.02;0.083	B;B;B;B;B;B;B;B;B;B;B	0.24394	0.016;0.053;0.032;0.013;0.021;0.047;0.03;0.013;0.032;0.013;0.047	T	0.49485	-0.8935	10	0.56958	D	0.05	-3.3318	14.8065	0.69959	0.1202:0.0:0.8798:0.0	.	219;222;373;347;381;372;384;373;376;381;376	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	I	343;326;449;373;384;381;376;347;373;376;376;219	ENSP00000430053:V343I;ENSP00000429582:V326I;ENSP00000429067:V449I;ENSP00000430120:V373I;ENSP00000343395:V384I;ENSP00000349275:V381I;ENSP00000287840:V376I;ENSP00000287845:V347I;ENSP00000287842:V373I;ENSP00000384620:V376I;ENSP00000428828:V376I;ENSP00000439276:V219I	ENSP00000287840:V376I	V	+	1	0	NRG1	32737324	1.000000	0.71417	0.951000	0.38953	0.542000	0.35054	5.882000	0.69714	2.804000	0.96469	0.655000	0.94253	GTA		0.527	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			24	93	0	0	0	0.004656	0	24	93				
DUSP26	78986	broad.mit.edu	37	8	33451050	33451050	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:33451050C>A	ENST00000256261.4	-	3	954		c.e3+1		DUSP26_ENST00000523956.1_Splice_Site	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)						negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)	p.?(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCCCCTCCTACCTCCTGGCTG	0.562																																							uc003xjp.2		NA																	1	Unknown(1)		lung(1)		0						c.e3+1		dual specificity phosphatase 26							42.0	38.0	39.0					8																	33451050		2203	4300	6503	SO:0001630	splice_region_variant	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33451050C>A	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.436+1G>T	8.37:g.33451050C>A						DUSP26_uc003xjq.2_Splice_Site_p.G146_splice	p.G146_splice	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	3	769	-								D3DSV8|Q9BTW0	Splice_Site	SNP	ENST00000256261.4	37	c.436_splice	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346095	0.82022	.	.	ENSG00000133878	ENST00000256261;ENST00000523956	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7513	0.88435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DUSP26	33570592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.652000	0.67959	2.363000	0.80096	0.563000	0.77884	.		0.562	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025	Intron	3	33	1	0	0.004672	0.004672	0.00503511	3	33				
KCNU1	157855	broad.mit.edu	37	8	36767015	36767015	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:36767015C>G	ENST00000399881.3	+	21	2330	c.2293C>G	c.(2293-2295)Cga>Gga	p.R765G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	765					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R765G(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGAGAATGGCGATTTCTCTG	0.378																																							uc010lvw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2293-2295)CGA>GGA		potassium channel, subfamily U, member 1							128.0	127.0	128.0					8																	36767015		1853	4082	5935	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36767015C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2293C>G	8.37:g.36767015C>G	ENSP00000382770:p.Arg765Gly					KCNU1_uc003xjw.2_RNA	p.R765G	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2380	+			765			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.2293C>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397626	0.25205	.	.	ENSG00000215262	ENST00000399881	T	0.38722	1.12	5.8	2.86	0.33363	.	0.320126	0.16700	U	0.203153	T	0.39091	0.1065	M	0.62723	1.935	0.80722	D	1	P	0.40515	0.719	B	0.37780	0.258	T	0.34054	-0.9844	10	0.72032	D	0.01	-2.7597	9.6817	0.40074	0.325:0.3589:0.3161:0.0	.	765	A8MYU2	KCNU1_HUMAN	G	765	ENSP00000382770:R765G	ENSP00000382770:R765G	R	+	1	2	KCNU1	36886173	0.262000	0.24073	0.993000	0.49108	0.209000	0.24338	0.459000	0.21908	0.749000	0.32854	0.655000	0.94253	CGA		0.378	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		13	109	0	0	0	0.001855	0	13	109				
GOT1L1	137362	broad.mit.edu	37	8	37793322	37793322	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:37793322G>C	ENST00000307599.4	-	7	928	c.829C>G	c.(829-831)Cag>Gag	p.Q277E	GOT1L1_ENST00000518826.1_Missense_Mutation_p.Q18E	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	277					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.Q277E(2)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCTTCCAGCTGGGAGAGGACA	0.597																																							uc011lbj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(829-831)CAG>GAG		glutamic-oxaloacetic transaminase 1-like 1							73.0	80.0	77.0					8																	37793322		2091	4213	6304	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793322G>C	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.829C>G	8.37:g.37793322G>C	ENSP00000303077:p.Gln277Glu						p.Q277E	NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	929	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	277					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.829C>G	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279514	0.80692	.	.	ENSG00000169154	ENST00000307599;ENST00000518826	D;D	0.97731	-4.51;-4.51	5.11	5.11	0.69529	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.080350	0.50627	D	0.000119	D	0.98207	0.9407	M	0.90542	3.125	0.53005	D	0.999968	P	0.47604	0.898	P	0.49192	0.602	D	0.99372	1.0920	10	0.87932	D	0	-8.3204	15.5201	0.75859	0.0:0.0:1.0:0.0	.	277	Q8NHS2	AATC2_HUMAN	E	277;18	ENSP00000303077:Q277E;ENSP00000429558:Q18E	ENSP00000303077:Q277E	Q	-	1	0	GOT1L1	37912480	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.128000	0.77217	2.412000	0.81896	0.650000	0.86243	CAG		0.597	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		11	41	0	0	0	0.001368	0	11	41				
ADAM9	8754	broad.mit.edu	37	8	38912024	38912024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:38912024G>T	ENST00000487273.2	+	13	1405	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	443	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.E443*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCCTTGCTGCGAAGGAAGTAC	0.363																																							uc003xmr.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1327-1329)GAA>TAA		ADAM metallopeptidase domain 9 isoform 1							136.0	117.0	124.0					8																	38912024		2203	4300	6503	SO:0001587	stop_gained	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38912024G>T	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1327G>T	8.37:g.38912024G>T	ENSP00000419446:p.Glu443*					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_5'Flank	p.E443*	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		13	1405	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	443			Extracellular (Potential).|Disintegrin.		B7ZLN7|Q10718|Q8NFM6	Nonsense_Mutation	SNP	ENST00000487273.2	37	c.1327G>T	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	38	7.225169	0.98146	.	.	ENSG00000168615	ENST00000487273	.	.	.	5.77	5.77	0.91146	.	0.091306	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.9922	0.97370	0.0:0.0:1.0:0.0	.	.	.	.	X	443	.	ENSP00000369249:E443X	E	+	1	0	ADAM9	39031181	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.259000	0.95561	2.740000	0.93945	0.557000	0.71058	GAA		0.363	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			6	52	1	0	0.00116845	0.001168	0.00130265	6	52				
ANK1	286	broad.mit.edu	37	8	41577265	41577265	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:41577265G>T	ENST00000347528.4	-	10	1104	c.1021C>A	c.(1021-1023)Cca>Aca	p.P341T	ANK1_ENST00000265709.8_Missense_Mutation_p.P374T|ANK1_ENST00000352337.4_Missense_Mutation_p.P341T|ANK1_ENST00000379758.2_Missense_Mutation_p.P341T|ANK1_ENST00000396945.1_Missense_Mutation_p.P341T|ANK1_ENST00000289734.7_Missense_Mutation_p.P341T|ANK1_ENST00000396942.1_Missense_Mutation_p.P341T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	341	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)	p.P341T(1)|p.P374T(1)		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)			ACGTGGAGTGGGGTCAGGTGG	0.607																																							uc003xok.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(1021-1023)CCA>ACA		ankyrin 1 isoform 1							237.0	205.0	216.0					8																	41577265		2203	4300	6503	SO:0001583	missense	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.chr8:41577265G>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.1021C>A	8.37:g.41577265G>T	ENSP00000339620:p.Pro341Thr					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.P341T|ANK1_uc003xoj.2_Missense_Mutation_p.P341T|ANK1_uc003xol.2_Missense_Mutation_p.P341T|ANK1_uc003xom.2_Missense_Mutation_p.P374T	p.P341T	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)		10	1105	-	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)	341			ANK 10.|89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.1021C>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885030	0.51908	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.76	4.89	0.63831	Ankyrin repeat-containing domain (3);	0.053388	0.85682	D	0.000000	D	0.84165	0.5412	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.997;0.998;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.954;0.933;0.999	D	0.87402	0.2370	10	0.72032	D	0.01	.	14.9773	0.71283	0.0686:0.0:0.9314:0.0	.	374;341;341;341;341	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	T	341;341;341;341;341;341;374;341	ENSP00000339620:P341T;ENSP00000289734:P341T;ENSP00000369082:P341T;ENSP00000380149:P341T;ENSP00000380147:P341T;ENSP00000309131:P341T;ENSP00000265709:P374T	ENSP00000265709:P374T	P	-	1	0	ANK1	41696422	1.000000	0.71417	0.434000	0.26772	0.033000	0.12548	5.653000	0.67967	1.455000	0.47813	-0.300000	0.09419	CCA		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		20	133	1	0	9.57634e-11	0.00333	1.5458e-10	20	133				
POTEA	340441	broad.mit.edu	37	8	43211911	43211911	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:43211911G>T	ENST00000522175.2	+	0	1234							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S457I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATTCTGCTAGCCTATCAAAA	0.373																																							uc003xpz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1369-1371)AGC>ATC		POTE ankyrin domain family, member A isoform 2							81.0	71.0	74.0					8																	43211911		1812	4077	5889			340441							g.chr8:43211911G>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43211911G>T						POTEA_uc003xqa.1_Missense_Mutation_p.S411I	p.S457I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			12	1413	+			457					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.1370G>T																																																																																					0.373	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		9	56	1	0	0.000274275	0.004482	0.000319476	9	56				
SNTG1	54212	broad.mit.edu	37	8	51621488	51621488	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:51621488C>A	ENST00000522124.1	+	17	1895	c.1234C>A	c.(1234-1236)Ctc>Atc	p.L412I	SNTG1_ENST00000517473.1_Missense_Mutation_p.L412I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L412I|SNTG1_ENST00000276467.5_Missense_Mutation_p.L412I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	412					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.L412I(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTAATGGGACTCACAATTGA	0.358																																							uc010lxy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(1234-1236)CTC>ATC		syntrophin, gamma 1							201.0	170.0	180.0					8																	51621488		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51621488C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1234C>A	8.37:g.51621488C>A	ENSP00000429842:p.Leu412Ile					SNTG1_uc003xqs.1_Missense_Mutation_p.L412I|SNTG1_uc010lxz.1_Missense_Mutation_p.L412I|SNTG1_uc011ldl.1_RNA	p.L412I	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			18	1605	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	412					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1234C>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643250	0.87859	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85835	0.5789	L	0.54323	1.7	0.80722	D	1	P;D	0.58268	0.868;0.982	P;D	0.67548	0.734;0.952	D	0.86350	0.1710	10	0.72032	D	0.01	.	18.8127	0.92064	0.0:1.0:0.0:0.0	.	412;412	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	412	ENSP00000429276:L412I;ENSP00000429842:L412I;ENSP00000431123:L412I;ENSP00000276467:L412I	ENSP00000276467:L412I	L	+	1	0	SNTG1	51784041	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.963000	0.76055	2.684000	0.91462	0.650000	0.86243	CTC		0.358	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			21	67	1	0	1.96292e-10	0.010504	3.13036e-10	21	67				
ST18	9705	broad.mit.edu	37	8	53079446	53079446	+	Silent	SNP	C	C	T	rs375570357		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:53079446C>T	ENST00000276480.7	-	11	1853	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	390					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S390S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGGGCACCCCGAAAGGCTGC	0.562																																							uc003xqz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1168-1170)TCG>TCA		suppression of tumorigenicity 18		C		1,4405	2.1+/-5.4	0,1,2202	89.0	89.0	89.0		1170	-6.6	0.8	8		89	0,8600		0,0,4300	no	coding-synonymous	ST18	NM_014682.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		390/1048	53079446	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079446C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1170G>A	8.37:g.53079446C>T						ST18_uc011ldq.1_Silent_p.S37S|ST18_uc011ldr.1_Silent_p.S355S|ST18_uc011lds.1_Silent_p.S295S|ST18_uc003xra.2_Silent_p.S390S|ST18_uc003xrb.2_Silent_p.S390S	p.S390S	NM_014682	NP_055497	O60284	ST18_HUMAN			6	1326	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	390			C2HC-type 1.		Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1170G>A	CCDS6149.1																																																																																				0.562	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			22	71	0	0	0	0.005443	0	22	71				
ATP6V1H	51606	broad.mit.edu	37	8	54714394	54714394	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:54714394G>C	ENST00000359530.2	-	8	905	c.642C>G	c.(640-642)taC>taG	p.Y214*	ATP6V1H_ENST00000396774.2_Nonsense_Mutation_p.Y214*|ATP6V1H_ENST00000355221.3_Nonsense_Mutation_p.Y196*|ATP6V1H_ENST00000520188.1_Nonsense_Mutation_p.Y174*	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	214					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.Y196*(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			AAGCAAAGCGGTACTCATTGA	0.453																																							uc003xrl.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(640-642)TAC>TAG		ATPase, H+ transporting, lysosomal 50/57kDa, V1							78.0	72.0	74.0					8																	54714394		2203	4300	6503	SO:0001587	stop_gained	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54714394G>C	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.642C>G	8.37:g.54714394G>C	ENSP00000352522:p.Tyr214*					ATP6V1H_uc003xrk.2_Nonsense_Mutation_p.Y174*|ATP6V1H_uc003xrm.2_Nonsense_Mutation_p.Y214*|ATP6V1H_uc003xrn.2_Nonsense_Mutation_p.Y196*|ATP6V1H_uc011ldv.1_Nonsense_Mutation_p.Y134*|ATP6V1H_uc010lyd.2_Nonsense_Mutation_p.Y150*	p.Y214*	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		8	794	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	214					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Nonsense_Mutation	SNP	ENST00000359530.2	37	c.642C>G	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	G	37	6.633052	0.97722	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774;ENST00000520049	.	.	.	5.9	2.8	0.32819	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0452	11.4577	0.50191	0.3019:0.0:0.6981:0.0	.	.	.	.	X	196;174;214;214;93	.	ENSP00000347359:Y196X	Y	-	3	2	ATP6V1H	54876947	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.848000	0.39309	0.851000	0.35264	-0.140000	0.14226	TAC		0.453	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		7	18	0	0	0	0.00308	0	7	18				
RP1	6101	broad.mit.edu	37	8	55542122	55542122	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:55542122A>G	ENST00000220676.1	+	4	5828	c.5680A>G	c.(5680-5682)Agt>Ggt	p.S1894G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1894					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S1894G(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTGCCTGGCAGTAATATGAT	0.393																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(5680-5682)AGT>GGT		retinitis pigmentosa RP1 protein							109.0	104.0	106.0					8																	55542122		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542122A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5680A>G	8.37:g.55542122A>G	ENSP00000220676:p.Ser1894Gly					RP1_uc011ldy.1_Intron	p.S1894G	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5828	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1894						Missense_Mutation	SNP	ENST00000220676.1	37	c.5680A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	2.895	-0.228887	0.06022	.	.	ENSG00000104237	ENST00000220676	T	0.46451	0.87	5.91	2.21	0.28008	.	0.387436	0.22291	N	0.061996	T	0.34250	0.0891	L	0.53249	1.67	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.29610	-1.0006	10	0.56958	D	0.05	.	6.533	0.22338	0.6289:0.2426:0.1284:0.0	.	1894	P56715	RP1_HUMAN	G	1894	ENSP00000220676:S1894G	ENSP00000220676:S1894G	S	+	1	0	RP1	55704675	0.052000	0.20516	0.000000	0.03702	0.010000	0.07245	3.231000	0.51294	0.137000	0.18759	-0.274000	0.10170	AGT		0.393	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		11	63	0	0	0	0.001855	0	11	63				
XKR4	114786	broad.mit.edu	37	8	56436481	56436481	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:56436481T>A	ENST00000327381.6	+	3	1748	c.1648T>A	c.(1648-1650)Tcc>Acc	p.S550T	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	550						integral component of membrane (GO:0016021)		p.S550T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACGGTCCATCTCCAACAACCG	0.597																																							uc003xsf.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(1648-1650)TCC>ACC		XK, Kell blood group complex subunit-related							66.0	67.0	67.0					8																	56436481		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436481T>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1648T>A	8.37:g.56436481T>A	ENSP00000328326:p.Ser550Thr						p.S550T	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1680	+			550					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1648T>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	3.824	-0.037224	0.07497	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82803	-1.65	5.95	5.95	0.96441	.	0.126462	0.56097	D	0.000029	D	0.82314	0.5010	L	0.31926	0.97	0.41984	D	0.99081	D	0.63880	0.993	P	0.52758	0.708	T	0.80723	-0.1255	10	0.27082	T	0.32	-14.3352	16.4237	0.83790	0.0:0.0:0.0:1.0	.	550	Q5GH76	XKR4_HUMAN	T	550	ENSP00000328326:S550T	ENSP00000328326:S550T	S	+	1	0	XKR4	56599035	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	4.425000	0.59875	2.279000	0.76181	0.533000	0.62120	TCC		0.597	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		9	33	0	0	0	0.004482	0	9	33				
TGS1	96764	broad.mit.edu	37	8	56723451	56723451	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:56723451G>A	ENST00000260129.5	+	11	2632	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	719	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.D719N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GATTGCCATTGATATCGATCC	0.363																																					Esophageal Squamous(34;275 823 4842 34837 48447)	Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(2155-2157)GAT>AAT		trimethylguanosine synthase homolog							177.0	179.0	178.0					8																	56723451		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56723451G>A	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2155G>A	8.37:g.56723451G>A	ENSP00000260129:p.Asp719Asn					TGS1_uc010lyh.2_Intron	p.D719N	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		11	2542	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	719	D->A: Loss of catalytic activity.		Sufficient for catalytic activity.	S-adenosyl-L-methionine (By similarity).	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.2155G>A	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200921	0.94997	.	.	ENSG00000137574	ENST00000260129	T	0.58358	0.34	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89413	0.3704	10	0.87932	D	0	-29.2655	19.0934	0.93238	0.0:0.0:1.0:0.0	.	719	Q96RS0	TGS1_HUMAN	N	719	ENSP00000260129:D719N	ENSP00000260129:D719N	D	+	1	0	TGS1	56886005	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.823000	0.99369	2.507000	0.84556	0.655000	0.94253	GAT		0.363	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		24	87	0	0	0	0.004656	0	24	87				
C8orf46	254778	broad.mit.edu	37	8	67408724	67408724	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:67408724G>T	ENST00000305454.3	+	2	564	c.123G>T	c.(121-123)aaG>aaT	p.K41N	C8orf46_ENST00000521495.1_Missense_Mutation_p.K41N|C8orf46_ENST00000522977.1_Missense_Mutation_p.K41N|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000480005.1_Missense_Mutation_p.K41N	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	41								p.K40N(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCTTGACCAAGAATGTAAGGA	0.448																																							uc003xwg.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(121-123)AAG>AAT		hypothetical protein LOC254778							143.0	129.0	134.0					8																	67408724		2203	4300	6503	SO:0001583	missense	254778							g.chr8:67408724G>T	BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.123G>T	8.37:g.67408724G>T	ENSP00000302260:p.Lys41Asn					C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.K41N	p.K41N	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		2	516	+			41					B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	ENST00000305454.3	37	c.123G>T	CCDS6191.2	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081544	0.55753	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	6.06	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	L	0.36672	1.1	0.40854	D	0.983772	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.65874	-0.6062	9	0.62326	D	0.03	-7.969	8.6242	0.33879	0.2556:0.0:0.7444:0.0	.	41;41	Q8TAG6-2;Q8TAG6	.;CH046_HUMAN	N	41	.	ENSP00000302260:K41N	K	+	3	2	C8orf46	67571278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.928000	0.28831	1.548000	0.49413	0.655000	0.94253	AAG		0.448	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765		6	45	1	0	2.7689e-08	0.001984	4.10123e-08	6	45				
TRPA1	8989	broad.mit.edu	37	8	72966087	72966087	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:72966087C>A	ENST00000262209.4	-	13	1752	c.1545G>T	c.(1543-1545)tgG>tgT	p.W515C	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	515					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.W515C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCAAAGCTGTCCAGCCATTGT	0.463																																							uc003xza.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1543-1545)TGG>TGT		ankyrin-like protein 1	Menthol(DB00825)						61.0	51.0	54.0					8																	72966087		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72966087C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1545G>T	8.37:g.72966087C>A	ENSP00000262209:p.Trp515Cys						p.W515C	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		13	1720	-			515			ANK 13.|Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1545G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.621012	0.66787	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71579	-0.58;-0.58	5.35	5.35	0.76521	Ankyrin repeat-containing domain (3);	0.106800	0.64402	D	0.000002	D	0.83562	0.5281	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82669	-0.0343	10	0.40728	T	0.16	-3.1516	19.071	0.93136	0.0:1.0:0.0:0.0	.	515	O75762	TRPA1_HUMAN	C	367;515	ENSP00000428151:W367C;ENSP00000262209:W515C	ENSP00000262209:W515C	W	-	3	0	TRPA1	73128641	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.985000	0.63845	2.507000	0.84556	0.561000	0.74099	TGG		0.463	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		3	10	1	0	0.004672	0.004672	0.00503511	3	10				
TRPA1	8989	broad.mit.edu	37	8	72967971	72967971	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:72967971G>A	ENST00000262209.4	-	11	1521	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	438					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.S438S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGGAATGAATGGACACATTAA	0.408																																							uc003xza.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1312-1314)TCC>TCT		ankyrin-like protein 1	Menthol(DB00825)						35.0	34.0	35.0					8																	72967971		2203	4294	6497	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72967971G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1314C>T	8.37:g.72967971G>A							p.S438S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		11	1489	-			438			ANK 10.|Cytoplasmic (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1314C>T	CCDS34908.1																																																																																				0.408	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		6	30	0	0	0	0.004482	0	6	30				
CRISPLD1	83690	broad.mit.edu	37	8	75898355	75898355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:75898355G>T	ENST00000262207.4	+	2	601	c.133G>T	c.(133-135)Gag>Tag	p.E45*	CRISPLD1_ENST00000519798.1_Intron	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	45					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.E45*(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAGGATGGTGAGTGGTGGAT	0.438																																							uc003yan.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(133-135)GAG>TAG		cysteine-rich secretory protein LCCL domain							107.0	101.0	103.0					8																	75898355		2203	4300	6503	SO:0001587	stop_gained	83690					extracellular region		g.chr8:75898355G>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.133G>T	8.37:g.75898355G>T	ENSP00000262207:p.Glu45*						p.E45*	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		2	508	+	Breast(64;0.0799)		45					B2RA60|B7Z929	Nonsense_Mutation	SNP	ENST00000262207.4	37	c.133G>T	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	42	9.462822	0.99178	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	.	.	.	5.37	5.37	0.77165	.	0.216928	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	19.3071	0.94167	0.0:0.0:1.0:0.0	.	.	.	.	X	45	.	ENSP00000262207:E45X	E	+	1	0	CRISPLD1	76060910	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.263000	0.95617	2.793000	0.96121	0.563000	0.77884	GAG		0.438	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		11	49	1	0	6.40141e-05	0.000978	7.85211e-05	11	49				
ZFHX4	79776	broad.mit.edu	37	8	77617295	77617295	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:77617295G>T	ENST00000521891.2	+	2	1420	c.972G>T	c.(970-972)ggG>ggT	p.G324G	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.G324G|ZFHX4_ENST00000050961.6_Silent_p.G324G|ZFHX4_ENST00000518282.1_Silent_p.G324G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G324G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAATACAGGGGATTGGCAAAG	0.438										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(970-972)GGG>GGT		zinc finger homeodomain 4							117.0	111.0	113.0					8																	77617295		1841	4097	5938	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617295G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.972G>T	8.37:g.77617295G>T		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.G324G|ZFHX4_uc003yau.1_Silent_p.G324G|ZFHX4_uc003yaw.1_Silent_p.G324G	p.G324G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1359	+			324					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.972G>T	CCDS47878.2																																																																																				0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	50	1	0	1.08611e-07	0.000978	1.558e-07	9	50				
ZFHX4	79776	broad.mit.edu	37	8	77764421	77764421	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:77764421G>T	ENST00000521891.2	+	10	5712	c.5264G>T	c.(5263-5265)gGc>gTc	p.G1755V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1710V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1710V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1729V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1710	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G1755V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGATTTGGGCTTGCCAGGC	0.507										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5128-5130)GGC>GTC		zinc finger homeodomain 4							47.0	45.0	46.0					8																	77764421		2056	4228	6284	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764421G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5264G>T	8.37:g.77764421G>T	ENSP00000430497:p.Gly1755Val	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G1755V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G1710V	p.G1710V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5516	+			1710			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5129G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	6.643	0.487184	0.12641	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49432	0.78;0.83;0.79;0.79	4.75	2.88	0.33553	.	0.320169	0.22063	U	0.065149	T	0.47783	0.1464	L	0.51422	1.61	0.58432	D	0.999999	B;B;B	0.22683	0.043;0.073;0.073	B;B;B	0.33295	0.077;0.161;0.161	T	0.50668	-0.8801	10	0.59425	D	0.04	.	15.1222	0.72453	0.0:0.2679:0.7321:0.0	.	1710;1710;1755	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	1755;1755;1710;1710;1729	ENSP00000430497:G1755V;ENSP00000399605:G1710V;ENSP00000050961:G1710V;ENSP00000430848:G1729V	ENSP00000050961:G1710V	G	+	2	0	ZFHX4	77926976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.552000	0.60747	0.676000	0.31285	0.637000	0.83480	GGC		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	25	1	0	2.0095e-06	0.001984	2.69165e-06	6	25				
ZFHX4	79776	broad.mit.edu	37	8	77767836	77767836	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:77767836T>A	ENST00000521891.2	+	10	9127	c.8679T>A	c.(8677-8679)gaT>gaA	p.D2893E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2848E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2848E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2867E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2848					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D2877E(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGACCCGGATGACAACGCCG	0.493										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8542-8544)GAT>GAA		zinc finger homeodomain 4							81.0	81.0	81.0					8																	77767836		1993	4163	6156	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767836T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8679T>A	8.37:g.77767836T>A	ENSP00000430497:p.Asp2893Glu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.D2893E|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2848E	p.D2848E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8931	+			2848					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8544T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292415	0.23564	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48522	0.81;0.86;0.83;0.82	5.25	0.256	0.15567	.	0.000000	0.45867	U	0.000328	T	0.19805	0.0476	N	0.08118	0	0.42783	D	0.993872	B;B;P	0.36110	0.244;0.357;0.537	B;B;B	0.35470	0.07;0.147;0.203	T	0.06391	-1.0829	10	0.14656	T	0.56	.	5.5149	0.16900	0.0:0.2947:0.1359:0.5694	.	2848;2848;2893	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	E	2893;2877;2848;2848;2867	ENSP00000430497:D2893E;ENSP00000399605:D2848E;ENSP00000050961:D2848E;ENSP00000430848:D2867E	ENSP00000050961:D2848E	D	+	3	2	ZFHX4	77930391	0.837000	0.29446	0.854000	0.33618	0.753000	0.42808	-0.103000	0.10940	-0.085000	0.12573	-0.379000	0.06801	GAT		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	35	0	0	0	0.008291	0	10	35				
CA13	377677	broad.mit.edu	37	8	86163132	86163132	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:86163132C>T	ENST00000321764.3	+	2	503	c.201C>T	c.(199-201)ttC>ttT	p.F67F	RP11-219B4.6_ENST00000551479.1_5'Flank|CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	67					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F67F(2)		large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GCCATTCCTTCAATGTTGACT	0.398																																							uc003ydg.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(199-201)TTC>TTT		carbonic anhydrase XIII							171.0	171.0	171.0					8																	86163132		2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86163132C>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.201C>T	8.37:g.86163132C>T						CA13_uc003ydf.1_RNA	p.F67F	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN			2	543	+			67						Silent	SNP	ENST00000321764.3	37	c.201C>T	CCDS6236.1																																																																																				0.398	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		26	144	0	0	0	0.003954	0	26	144				
CDH17	1015	broad.mit.edu	37	8	95201473	95201473	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:95201473A>T	ENST00000027335.3	-	3	216	c.92T>A	c.(91-93)cTg>cAg	p.L31Q	CDH17_ENST00000441892.2_Missense_Mutation_p.L31Q|CDH17_ENST00000450165.2_Missense_Mutation_p.L31Q	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	31	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.L31Q(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATGGGTTTCAGGGGTCCACT	0.393																																							uc003ygh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(91-93)CTG>CAG		cadherin 17 precursor							117.0	119.0	118.0					8																	95201473		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95201473A>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.92T>A	8.37:g.95201473A>T	ENSP00000027335:p.Leu31Gln					CDH17_uc011lgo.1_Missense_Mutation_p.L31Q|CDH17_uc011lgp.1_Missense_Mutation_p.L31Q	p.L31Q	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		3	217	-	Breast(36;4.65e-06)		31			Extracellular (Potential).|Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.92T>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308345	0.60305	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.63255	0.33;0.28;0.33;-0.03	5.52	5.52	0.82312	Cadherin (1);	0.000000	0.37669	N	0.001984	T	0.76666	0.4019	M	0.70595	2.14	0.49915	D	0.999838	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.994	T	0.78257	-0.2274	10	0.54805	T	0.06	-11.2832	12.0555	0.53533	1.0:0.0:0.0:0.0	.	31;31	E7EN24;Q12864	.;CAD17_HUMAN	Q	31	ENSP00000027335:L31Q;ENSP00000392811:L31Q;ENSP00000401468:L31Q;ENSP00000428189:L31Q	ENSP00000027335:L31Q	L	-	2	0	CDH17	95270649	1.000000	0.71417	0.915000	0.36163	0.481000	0.33189	4.191000	0.58372	2.095000	0.63458	0.533000	0.62120	CTG		0.393	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		14	50	0	0	0	0.003163	0	14	50				
INTS8	55656	broad.mit.edu	37	8	95862156	95862156	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:95862156G>C	ENST00000523731.1	+	12	1477	c.1344G>C	c.(1342-1344)ctG>ctC	p.L448L	INTS8_ENST00000447247.1_Silent_p.L448L	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	448					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.L448L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATGTGTGTCTGGGGTTGGAAG	0.308																																							uc003yhb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1342-1344)CTG>CTC		integrator complex subunit 8							115.0	113.0	114.0					8																	95862156		2203	4300	6503	SO:0001819	synonymous_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95862156G>C	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1344G>C	8.37:g.95862156G>C						INTS8_uc003yha.1_Silent_p.L448L|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.L275L	p.L448L	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			12	1470	+	Breast(36;1.05e-06)		448					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	c.1344G>C	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	G	7.821	0.717754	0.15372	.	.	ENSG00000164941	ENST00000520526	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.76506	0.3997	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74331	-0.3700	4	.	.	.	-26.9815	19.8764	0.96873	0.0:0.0:1.0:0.0	.	.	.	.	S	270	.	.	W	+	2	0	INTS8	95931332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.237000	0.51344	2.768000	0.95171	0.655000	0.94253	TGG		0.308	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		10	51	0	0	0	0.000978	0	10	51				
UQCRB	7381	broad.mit.edu	37	8	97247745	97247745	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:97247745T>C	ENST00000287022.5	-	1	117	c.14A>G	c.(13-15)cAg>cGg	p.Q5R	UQCRB_ENST00000518406.1_Missense_Mutation_p.Q5R|KB-1043D8.6_ENST00000520575.1_RNA|UQCRB_ENST00000523920.1_Missense_Mutation_p.Q5R|UQCRB_ENST00000517523.1_5'Flank	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	5					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)		p.Q5R(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					CTTACCGGCCTGCTTACCAGC	0.542																																							uc003yhq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13-15)CAG>CGG		ubiquinol-cytochrome c reductase binding							115.0	107.0	109.0					8																	97247745		2203	4300	6503	SO:0001583	missense	7381				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr8:97247745T>C	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.14A>G	8.37:g.97247745T>C	ENSP00000287022:p.Gln5Arg					UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA	p.Q5R	NM_006294	NP_006285	P14927	QCR7_HUMAN			1	118	-	Breast(36;5.16e-05)		5					E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	c.14A>G	CCDS6269.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246462	0.22796	.	.	ENSG00000156467	ENST00000287022;ENST00000518406;ENST00000523920	T;T;T	0.47177	0.98;0.86;0.85	4.2	2.34	0.29019	.	0.835595	0.10744	N	0.639125	T	0.21509	0.0518	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20840	-1.0263	10	0.08599	T	0.76	0.0027	9.3998	0.38426	0.0:0.0:0.6058:0.3942	.	5	P14927	QCR7_HUMAN	R	5	ENSP00000287022:Q5R;ENSP00000430494:Q5R;ENSP00000430560:Q5R	ENSP00000287022:Q5R	Q	-	2	0	UQCRB	97316921	0.002000	0.14202	0.000000	0.03702	0.043000	0.13939	0.865000	0.27940	0.500000	0.27991	-1.327000	0.01280	CAG		0.542	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294		13	44	0	0	0	0.00245	0	13	44				
TSPYL5	85453	broad.mit.edu	37	8	98288962	98288962	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:98288962C>G	ENST00000322128.3	-	1	1214	c.1111G>C	c.(1111-1113)Gaa>Caa	p.E371Q		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	371					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.E371Q(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CACAATTCTTCGTTGATTATC	0.468																																							uc003yhy.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1111-1113)GAA>CAA		TSPY-like 5							170.0	180.0	177.0					8																	98288962		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98288962C>G	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1111G>C	8.37:g.98288962C>G	ENSP00000322802:p.Glu371Gln						p.E371Q	NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN			1	1215	-	Breast(36;2.56e-06)		371					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.1111G>C	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854083	0.71719	.	.	ENSG00000180543	ENST00000322128	T	0.35236	1.32	4.3	4.3	0.51218	.	0.000000	0.33309	N	0.005053	T	0.59636	0.2208	M	0.81179	2.53	0.48087	D	0.999588	D	0.71674	0.998	D	0.76575	0.988	T	0.62129	-0.6919	10	0.54805	T	0.06	-30.462	12.5736	0.56352	0.0:1.0:0.0:0.0	.	371	Q86VY4	TSYL5_HUMAN	Q	371	ENSP00000322802:E371Q	ENSP00000322802:E371Q	E	-	1	0	TSPYL5	98358138	0.992000	0.36948	0.998000	0.56505	0.952000	0.60782	4.054000	0.57434	2.692000	0.91855	0.563000	0.77884	GAA		0.468	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		34	143	0	0	0	0.00623	0	34	143				
MATN2	4147	broad.mit.edu	37	8	98954084	98954084	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:98954084C>T	ENST00000520016.1	+	3	916	c.792C>T	c.(790-792)tgC>tgT	p.C264C	MATN2_ENST00000524308.1_Silent_p.C264C|MATN2_ENST00000521689.1_Silent_p.C264C|MATN2_ENST00000522025.2_5'UTR|MATN2_ENST00000254898.5_Silent_p.C264C			O00339	MATN2_HUMAN	matrilin 2	264	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.C264C(2)		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)			TCTGCAGGTGCAAACAAGGCT	0.493																																							uc003yic.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(790-792)TGC>TGT		matrilin 2 isoform a precursor							123.0	124.0	124.0					8																	98954084		2093	4232	6325	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98954084C>T	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.792C>T	8.37:g.98954084C>T						MATN2_uc003yib.1_Silent_p.C264C|MATN2_uc010mbh.1_Silent_p.C264C|MATN2_uc003yid.2_Silent_p.C264C|MATN2_uc003yie.1_Silent_p.C264C|MATN2_uc010mbi.1_Silent_p.C138C	p.C264C	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		4	1023	+	Breast(36;1.43e-06)		264			EGF-like 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.792C>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252517	0.22880	.	.	ENSG00000132561	ENST00000518154	.	.	.	5.24	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.7769	6.8054	0.23774	0.0:0.7376:0.0:0.2624	.	.	.	.	X	88	.	.	Q	+	1	0	MATN2	99023260	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.463000	0.35277	1.155000	0.42497	0.561000	0.74099	CAA		0.493	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			3	14	0	0	0	0.009096	0	3	14				
SNX31	169166	broad.mit.edu	37	8	101589249	101589249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:101589249G>A	ENST00000311812.2	-	13	1375	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q310*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	409					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)	p.Q409*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCACAGACCTGGCTTTGTTGA	0.333																																							uc003yjr.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1225-1227)CAG>TAG		sorting nexin 31							221.0	215.0	217.0					8																	101589249		2203	4300	6503	SO:0001587	stop_gained	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101589249G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1225C>T	8.37:g.101589249G>A	ENSP00000312368:p.Gln409*					SNX31_uc011lha.1_Nonsense_Mutation_p.Q204*|SNX31_uc011lhb.1_Nonsense_Mutation_p.Q310*	p.Q409*	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		13	1376	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		409					C9J6L9|Q8N0U9	Nonsense_Mutation	SNP	ENST00000311812.2	37	c.1225C>T	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000174	0.93227	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	.	.	.	5.87	4.05	0.47172	.	0.745034	0.12306	N	0.480661	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.0307	7.809	0.29219	0.0817:0.0:0.7581:0.1603	.	.	.	.	X	409;310	.	ENSP00000312368:Q409X	Q	-	1	0	SNX31	101658425	1.000000	0.71417	0.903000	0.35520	0.800000	0.45204	2.252000	0.43196	0.906000	0.36621	0.655000	0.94253	CAG		0.333	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		23	85	0	0	0	0.00278	0	23	85				
RIMS2	9699	broad.mit.edu	37	8	104898239	104898239	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:104898239G>C	ENST00000436393.2	+	2	987	c.746G>C	c.(745-747)cGg>cCg	p.R249P	RIMS2_ENST00000262231.10_Missense_Mutation_p.R279P|RIMS2_ENST00000406091.3_Missense_Mutation_p.R471P|RIMS2_ENST00000507740.1_Missense_Mutation_p.R279P			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	502					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R279P(2)|p.R249P(1)|p.R471P(1)|p.R507P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAACAAAACGGGAAAAAATG	0.443										HNSCC(12;0.0054)																													uc003yls.2		NA																	5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(745-747)CGG>CCG		regulating synaptic membrane exocytosis 2							74.0	69.0	70.0					8																	104898239		1959	4151	6110	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898239G>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.746G>C	8.37:g.104898239G>C	ENSP00000390665:p.Arg249Pro	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.R471P|RIMS2_uc003ylw.2_Missense_Mutation_p.R279P|RIMS2_uc003ylq.2_Missense_Mutation_p.R279P|RIMS2_uc003ylr.2_Missense_Mutation_p.R279P	p.R249P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	987	+			502					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.746G>C		.	.	.	.	.	.	.	.	.	.	G	22.7	4.321950	0.81580	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.22743	1.94;2.41;1.98;2.1;2.02;1.96;2.33	5.65	5.65	0.86999	.	.	.	.	.	T	0.47192	0.1432	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.81914	0.995;0.983;0.98;0.938;0.981	T	0.39941	-0.9589	9	0.87932	D	0	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	502;249;279;279;471	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	P	471;502;471;502;279;279;279;279;249	ENSP00000427018:R471P;ENSP00000384892:R471P;ENSP00000425205:R279P;ENSP00000262231:R279P;ENSP00000423559:R279P;ENSP00000386228:R279P;ENSP00000390665:R249P	ENSP00000262231:R279P	R	+	2	0	RIMS2	104967415	1.000000	0.71417	0.977000	0.42913	0.845000	0.48019	9.615000	0.98356	2.653000	0.90120	0.563000	0.77884	CGG		0.443	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		5	35	0	0	0	0.001168	0	5	35				
RIMS2	9699	broad.mit.edu	37	8	105001583	105001583	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:105001583A>G	ENST00000436393.2	+	15	2553	c.2312A>G	c.(2311-2313)tAt>tGt	p.Y771C	RIMS2_ENST00000262231.10_Missense_Mutation_p.Y832C|RIMS2_ENST00000406091.3_Missense_Mutation_p.Y993C|RIMS2_ENST00000507740.1_Missense_Mutation_p.Y785C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1055					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.Y785C(2)|p.Y993C(1)|p.Y771C(1)|p.Y1060C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCGGACATTATAATACAATT	0.373										HNSCC(12;0.0054)																													uc003yls.2		NA																	5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2311-2313)TAT>TGT		regulating synaptic membrane exocytosis 2							127.0	125.0	126.0					8																	105001583		1868	4098	5966	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001583A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2312A>G	8.37:g.105001583A>G	ENSP00000390665:p.Tyr771Cys	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.Y993C|RIMS2_uc003ylw.2_Missense_Mutation_p.Y785C|RIMS2_uc003ylq.2_Missense_Mutation_p.Y785C|RIMS2_uc003ylr.2_Missense_Mutation_p.Y832C	p.Y771C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2553	+			1055					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2312A>G		.	.	.	.	.	.	.	.	.	.	A	18.90	3.721363	0.68959	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.19669	2.13;2.65;2.31;2.27;2.19;2.58	5.54	5.54	0.83059	.	.	.	.	.	T	0.23210	0.0561	N	0.14661	0.345	0.80722	D	1	B;B;B;D;B	0.54964	0.014;0.002;0.023;0.969;0.016	B;B;B;P;B	0.53146	0.01;0.002;0.017;0.719;0.007	T	0.05582	-1.0876	9	0.72032	D	0.01	.	15.3304	0.74203	1.0:0.0:0.0:0.0	.	1055;771;832;785;993	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	993;1008;993;1055;832;785;785;771	ENSP00000427018:Y993C;ENSP00000384892:Y993C;ENSP00000262231:Y832C;ENSP00000423559:Y785C;ENSP00000386228:Y785C;ENSP00000390665:Y771C	ENSP00000262231:Y832C	Y	+	2	0	RIMS2	105070759	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.311000	0.72835	2.115000	0.64714	0.397000	0.26171	TAT		0.373	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		16	69	0	0	0	0.004007	0	16	69				
DCSTAMP	81501	broad.mit.edu	37	8	105361010	105361010	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:105361010A>C	ENST00000297581.2	+	2	279	c.230A>C	c.(229-231)cAt>cCt	p.H77P	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.H77P	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	77					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.H77P(1)									TGCTCCAAGCATGCACGATGT	0.537																																							uc003ylx.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(229-231)CAT>CCT		dendritic cell-specific transmembrane protein							113.0	103.0	106.0					8																	105361010		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361010A>C	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.230A>C	8.37:g.105361010A>C	ENSP00000297581:p.His77Pro						p.H77P	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	279	+			77			Helical; (Potential).		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.230A>C	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538782	0.45176	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.29917	1.55	5.84	3.4	0.38934	.	0.255276	0.43919	D	0.000503	T	0.39064	0.1064	L	0.59436	1.845	0.36925	D	0.891578	D	0.56521	0.976	P	0.53450	0.726	T	0.37776	-0.9691	9	.	.	.	-7.5533	9.2698	0.37664	0.8608:0.0:0.1392:0.0	.	77	Q9H295	TM7S4_HUMAN	P	77	ENSP00000297581:H77P	.	H	+	2	0	TM7SF4	105430186	0.986000	0.35501	0.519000	0.27824	0.358000	0.29455	2.516000	0.45520	0.455000	0.26910	0.533000	0.62120	CAT		0.537	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		11	62	0	0	0	0.000978	0	11	62				
DCSTAMP	81501	broad.mit.edu	37	8	105367361	105367361	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:105367361C>G	ENST00000297581.2	+	3	1335	c.1286C>G	c.(1285-1287)tCa>tGa	p.S429*	DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	429					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.S429*(1)									AAAAAAAGATCAAAGCAGCCG	0.453																																							uc003ylx.1		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(1285-1287)TCA>TGA		dendritic cell-specific transmembrane protein							68.0	71.0	70.0					8																	105367361		2203	4300	6503	SO:0001587	stop_gained	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367361C>G	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1286C>G	8.37:g.105367361C>G	ENSP00000297581:p.Ser429*						p.S429*	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	1335	+			429			Cytoplasmic.		B7ZVW2|E7ESG0|Q2M2D5	Nonsense_Mutation	SNP	ENST00000297581.2	37	c.1286C>G	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.967557	0.97156	.	.	ENSG00000164935	ENST00000297581	.	.	.	5.2	5.2	0.72013	.	0.802457	0.11543	N	0.553507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-4.692	17.272	0.87104	0.0:1.0:0.0:0.0	.	.	.	.	X	429	.	ENSP00000297581:S429X	S	+	2	0	TM7SF4	105436537	0.171000	0.23029	0.997000	0.53966	0.789000	0.44602	0.953000	0.29162	2.584000	0.87258	0.655000	0.94253	TCA		0.453	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		10	43	0	0	0	0.001368	0	10	43				
DPYS	1807	broad.mit.edu	37	8	105440265	105440265	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:105440265G>T	ENST00000351513.2	-	6	1167	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	345					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.I345I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCCCATTGGGGATCTTGGTAA	0.453																																							uc003yly.3		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1033-1035)ATC>ATA		dihydropyrimidinase							162.0	157.0	159.0					8																	105440265		2203	4300	6503	SO:0001819	synonymous_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440265G>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1035C>A	8.37:g.105440265G>T							p.I345I	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1164	-			345						Silent	SNP	ENST00000351513.2	37	c.1035C>A	CCDS6302.1																																																																																				0.453	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		16	65	1	0	1.99824e-07	0.00499	2.83847e-07	16	65				
ANGPT1	284	broad.mit.edu	37	8	108315513	108315513	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:108315513A>T	ENST00000520734.1	-	4	576	c.291T>A	c.(289-291)agT>agA	p.S97R	ANGPT1_ENST00000520052.1_Missense_Mutation_p.S96R|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	297					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.S297R(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGTAGATTCCACTTTTATTAA	0.323																																							uc003ymn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(889-891)AGT>AGA		angiopoietin 1 precursor							79.0	87.0	85.0					8																	108315513		2202	4297	6499	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108315513A>T	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.291T>A	8.37:g.108315513A>T	ENSP00000430750:p.Ser97Arg					ANGPT1_uc011lhv.1_Missense_Mutation_p.S97R|ANGPT1_uc003ymo.2_Missense_Mutation_p.S296R|ANGPT1_uc003ymp.3_Missense_Mutation_p.S96R	p.S297R	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		5	1359	-	Breast(1;5.06e-08)		297			Fibrinogen C-terminal.		Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.891T>A		.	.	.	.	.	.	.	.	.	.	A	17.24	3.340146	0.60963	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	4.45	4.45	0.53987	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.282193	0.44902	D	0.000409	D	0.93262	0.7853	H	0.96805	3.885	0.46437	D	0.999042	D;P;P	0.53885	0.963;0.571;0.571	D;P;P	0.63033	0.91;0.507;0.507	D	0.93395	0.6755	10	0.87932	D	0	.	6.5746	0.22557	0.77:0.0:0.23:0.0	.	96;297;297	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	R	297;296;109;97;96	ENSP00000428340:S297R;ENSP00000297450:S296R;ENSP00000430750:S97R;ENSP00000429349:S96R	ENSP00000297450:S296R	S	-	3	2	ANGPT1	108384689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.746000	0.38288	1.862000	0.54008	0.528000	0.53228	AGT		0.323	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		22	49	0	0	0	0.010504	0	22	49				
PKHD1L1	93035	broad.mit.edu	37	8	110478983	110478983	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:110478983C>A	ENST00000378402.5	+	50	8694	c.8590C>A	c.(8590-8592)Ctt>Att	p.L2864I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2864					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L2866I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGATGTGGTTCTTTCAGACTC	0.378										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8590-8592)CTT>ATT		fibrocystin L precursor							125.0	112.0	116.0					8																	110478983		1880	4106	5986	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110478983C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8590C>A	8.37:g.110478983C>A	ENSP00000367655:p.Leu2864Ile	HNSCC(38;0.096)					p.L2864I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		50	8694	+			2864			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8590C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726589	0.69074	.	.	ENSG00000205038	ENST00000378402	D	0.86769	-2.17	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000003	D	0.88746	0.6520	L	0.50333	1.59	0.33510	D	0.590988	P	0.39044	0.656	P	0.47827	0.558	D	0.89643	0.3864	10	0.33940	T	0.23	.	18.3537	0.90348	0.0:1.0:0.0:0.0	.	2864	Q86WI1	PKHL1_HUMAN	I	2864	ENSP00000367655:L2864I	ENSP00000367655:L2864I	L	+	1	0	PKHD1L1	110548159	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.919000	0.48836	2.937000	0.99478	0.650000	0.86243	CTT		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		5	16	1	0	0.000602214	0.000602	0.000682885	5	16				
CSMD3	114788	broad.mit.edu	37	8	113353818	113353818	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:113353818C>A	ENST00000297405.5	-	42	6784	c.6540G>T	c.(6538-6540)cgG>cgT	p.R2180R	CSMD3_ENST00000343508.3_Silent_p.R2140R|CSMD3_ENST00000352409.3_Silent_p.R2110R|CSMD3_ENST00000455883.2_Silent_p.R2076R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2180	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2140R(1)|p.R2180R(1)		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						GACCACTAAGCCGGCCAATAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - coding silent(2)		lung(2)	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.(6538-6540)CGG>CGT		CUB and Sushi multiple domains 3 isoform 1							135.0	128.0	130.0					8																	113353818		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113353818C>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.6540G>T	8.37:g.113353818C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.R1382R|CSMD3_uc003ynt.2_Silent_p.R2140R|CSMD3_uc011lhx.1_Silent_p.R2076R	p.R2180R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			42	6699	-			2180			Extracellular (Potential).|CUB 12.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.6540G>T	CCDS6315.1																																																																																				0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	41	1	0	2.23348e-06	0.004007	2.98893e-06	15	41				
UTP23	84294	broad.mit.edu	37	8	117783872	117783872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:117783872G>T	ENST00000309822.2	+	3	642	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	UTP23_ENST00000520733.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	181					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E181*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						TCTCAAAGAGGAACAGGGTTT	0.393																																							uc003yoc.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(541-543)GAA>TAA		UTP23, small subunit (SSU) processome component,							81.0	79.0	79.0					8																	117783872		2203	4300	6503	SO:0001587	stop_gained	84294				rRNA processing	nucleolus		g.chr8:117783872G>T		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.541G>T	8.37:g.117783872G>T	ENSP00000308332:p.Glu181*						p.E181*	NM_032334	NP_115710	Q9BRU9	UTP23_HUMAN			3	642	+			181					B2RE25|Q96NJ8	Nonsense_Mutation	SNP	ENST00000309822.2	37	c.541G>T	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475154	0.96291	.	.	ENSG00000147679	ENST00000309822	.	.	.	5.96	5.96	0.96718	.	0.097332	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-36.6056	14.0002	0.64429	0.0775:0.0:0.9225:0.0	.	.	.	.	X	181	.	ENSP00000308332:E181X	E	+	1	0	UTP23	117853053	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.760000	0.55235	2.826000	0.97356	0.655000	0.94253	GAA		0.393	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		10	45	1	0	2.17888e-05	0.006214	2.75625e-05	10	45				
ENPP2	5168	broad.mit.edu	37	8	120612922	120612922	+	Missense_Mutation	SNP	G	G	T	rs576690236		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:120612922G>T	ENST00000075322.6	-	11	1026	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ENPP2_ENST00000259486.6_Missense_Mutation_p.P323H|ENPP2_ENST00000522826.1_Missense_Mutation_p.P323H|ENPP2_ENST00000427067.2_Missense_Mutation_p.P319H	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	323					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)	p.P323H(2)		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)			ACTAACCTCAGGGCCGAAAGG	0.448																																					Melanoma(20;305 879 2501 4818 31020)	Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(967-969)CCT>CAT		autotaxin isoform 2 preproprotein							91.0	95.0	93.0					8																	120612922		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.chr8:120612922G>T	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.968C>A	8.37:g.120612922G>T	ENSP00000075322:p.Pro323His					ENPP2_uc003yos.1_Missense_Mutation_p.P323H|ENPP2_uc010mdd.1_Missense_Mutation_p.P323H	p.P323H	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		11	1054	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		323					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.968C>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066414	0.76187	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.76	5.76	0.90799	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.555846	0.19591	N	0.110620	T	0.80059	0.4554	M	0.70108	2.13	0.48395	D	0.99964	B;P;P	0.39282	0.431;0.666;0.508	B;B;B	0.43478	0.421;0.223;0.296	T	0.81104	-0.1084	10	0.66056	D	0.02	.	19.9694	0.97278	0.0:0.0:1.0:0.0	.	323;323;323	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	H	323;319;323;323	ENSP00000259486:P323H;ENSP00000403315:P319H;ENSP00000428291:P323H;ENSP00000075322:P323H	ENSP00000075322:P323H	P	-	2	0	ENPP2	120682103	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.682000	0.61671	2.719000	0.93026	0.655000	0.94253	CCT		0.448	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			6	42	1	0	0.00448238	0.004482	0.00486678	6	42				
ZNF572	137209	broad.mit.edu	37	8	125988958	125988958	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:125988958C>T	ENST00000319286.5	+	3	602	c.448C>T	c.(448-450)Cac>Tac	p.H150Y		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H150Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTTGCGTACTCACCAGAGGAC	0.413										HNSCC(60;0.17)																													uc003yrr.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(448-450)CAC>TAC		zinc finger protein 572							67.0	67.0	67.0					8																	125988958		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125988958C>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.448C>T	8.37:g.125988958C>T	ENSP00000319305:p.His150Tyr	HNSCC(60;0.17)					p.H150Y	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	603	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		150			C2H2-type 1.		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.448C>T	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959414	0.74016	.	.	ENSG00000180938	ENST00000319286	D	0.86769	-2.17	4.89	4.89	0.63831	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000088	D	0.95739	0.8614	H	0.96691	3.865	0.42996	D	0.9945	D	0.89917	1.0	D	0.85130	0.997	D	0.97032	0.9751	10	0.87932	D	0	-8.0331	15.9295	0.79648	0.0:1.0:0.0:0.0	.	150	Q7Z3I7	ZN572_HUMAN	Y	150	ENSP00000319305:H150Y	ENSP00000319305:H150Y	H	+	1	0	ZNF572	126058139	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	5.766000	0.68843	2.709000	0.92574	0.655000	0.94253	CAC		0.413	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		9	44	0	0	0	0.000978	0	9	44				
KCNQ3	3786	broad.mit.edu	37	8	133192464	133192464	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:133192464C>A	ENST00000388996.4	-	4	1137	c.717G>T	c.(715-717)cgG>cgT	p.R239R	KCNQ3_ENST00000519445.1_Silent_p.R239R|KCNQ3_ENST00000521134.1_Silent_p.R119R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	239					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R239R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCGGTCCATCCGCAGCATGC	0.592																																							uc003ytj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(715-717)CGG>CGT		potassium voltage-gated channel KQT-like protein							94.0	84.0	88.0					8																	133192464		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133192464C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.717G>T	8.37:g.133192464C>A						KCNQ3_uc010mdt.2_Silent_p.R239R	p.R239R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		4	942	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		239			Helical; Voltage-sensor; Name=Segment S4; (Potential).		A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.717G>T	CCDS34943.1																																																																																				0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		19	58	1	0	1.45105e-14	0.006122	2.50621e-14	19	58				
TG	7038	broad.mit.edu	37	8	133881998	133881999	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:133881998_133881999CC>AG	ENST00000220616.4	+	3	241_242	c.201_202CC>AG	c.(199-204)ggCCgc>ggAGgc	p.R68G	TG_ENST00000377869.1_Missense_Mutation_p.R68G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	68	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R68G(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAACGACGGCCGCTCCTGCTG	0.649																																							uc003ytw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(199-204)GGCCGC>GGAGGC		thyroglobulin precursor																																				SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133881998_133881999CC>AG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	Exception_encountered	8.37:g.133881998_133881999delinsAG	ENSP00000220616:p.Arg68Gly						p.R68G	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	3	242_243	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	68			Thyroglobulin type-1 1.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	DNP	ENST00000220616.4	37	c.201_202CC>AG	CCDS34944.1																																																																																				0.649	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	43	0	0	0	0.004672	0	5	43				
ZFAT	57623	broad.mit.edu	37	8	135613823	135613823	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:135613823G>A	ENST00000377838.3	-	6	2313	c.2139C>T	c.(2137-2139)acC>acT	p.T713T	ZFAT_ENST00000520356.1_Silent_p.T701T|ZFAT_ENST00000520727.1_Silent_p.T701T|ZFAT_ENST00000523399.1_Silent_p.T651T|ZFAT_ENST00000429442.2_Silent_p.T701T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Silent_p.T701T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	713					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T713T(1)|p.T701T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCATGAAAGCGGTGATGCCTG	0.537																																							uc003yup.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(2137-2139)ACC>ACT		zinc finger protein 406 isoform ZFAT-1							103.0	104.0	104.0					8																	135613823		2054	4205	6259	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135613823G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2139C>T	8.37:g.135613823G>A						ZFAT_uc003yun.2_Silent_p.T701T|ZFAT_uc003yuo.2_Silent_p.T701T|ZFAT_uc010meh.2_Silent_p.T701T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.T701T|ZFAT_uc010mej.2_Silent_p.T651T|ZFAT_uc003yur.2_Silent_p.T701T	p.T713T	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	2314	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		713					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.2139C>T	CCDS47924.1																																																																																				0.537	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		22	56	0	0	0	0.00278	0	22	56				
FAM135B	51059	broad.mit.edu	37	8	139163634	139163634	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:139163634C>A	ENST00000395297.1	-	13	3254	c.3084G>T	c.(3082-3084)gtG>gtT	p.V1028V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1028								p.V1028V(2)		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)			TCACAACCTCCACAGCCTTCA	0.527										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(3082-3084)GTG>GTT		hypothetical protein LOC51059							69.0	69.0	69.0					8																	139163634		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139163634C>A	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.3084G>T	8.37:g.139163634C>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.V929V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.V590V|FAM135B_uc003yvb.2_Silent_p.V590V	p.V1028V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3255	-	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)		1028					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3084G>T	CCDS6375.2																																																																																				0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	25	1	0	1.23904e-05	0.000602	1.57558e-05	4	25				
FAM135B	51059	broad.mit.edu	37	8	139255187	139255187	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:139255187C>T	ENST00000395297.1	-	7	837	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	223								p.E223K(2)		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)			GGCCTTACCTCTGAGGAAGTC	0.463										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(667-669)GAG>AAG		hypothetical protein LOC51059							73.0	73.0	73.0					8																	139255187		1896	4110	6006	SO:0001583	missense	51059							g.chr8:139255187C>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.667G>A	8.37:g.139255187C>T	ENSP00000378710:p.Glu223Lys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.E124K|FAM135B_uc003yuz.2_RNA	p.E223K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		7	838	-	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)		223					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.667G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	32	5.153375	0.94645	.	.	ENSG00000147724	ENST00000395297	T	0.77358	-1.09	4.9	4.9	0.64082	.	0.063541	0.64402	D	0.000009	D	0.86585	0.5968	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.85964	0.1472	10	0.40728	T	0.16	-22.916	17.0154	0.86418	0.0:1.0:0.0:0.0	.	223	Q49AJ0	F135B_HUMAN	K	223	ENSP00000378710:E223K	ENSP00000276737:E223K	E	-	1	0	FAM135B	139324369	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.917000	0.75782	2.441000	0.82636	0.655000	0.94253	GAG		0.463	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		5	32	0	0	0	0.000602	0	5	32				
AGO2	27161	broad.mit.edu	37	8	141567304	141567304	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:141567304C>T	ENST00000220592.5	-	8	1022	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	AGO2_ENST00000519980.1_Missense_Mutation_p.V304M	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	304	PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.V304M(1)									GTGCACTCCACCGTCTGCCCG	0.597																																							uc003yvn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GTG>ATG		argonaute 2 isoform 1							111.0	110.0	111.0					8																	141567304		2203	4300	6503	SO:0001583	missense	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141567304C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.910G>A	8.37:g.141567304C>T	ENSP00000220592:p.Val304Met					EIF2C2_uc010men.2_Missense_Mutation_p.V227M|EIF2C2_uc010meo.2_Missense_Mutation_p.V304M	p.V304M	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		8	950	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	304			PAZ.		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.910G>A	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788434	0.49997	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.14516	2.5;2.5	5.01	5.01	0.66863	Argonaute/Dicer protein, PAZ (4);	0.182500	0.48286	D	0.000185	T	0.16041	0.0386	L	0.42632	1.34	0.54753	D	0.999988	B;B	0.14012	0.007;0.009	B;B	0.18263	0.019;0.021	T	0.03095	-1.1073	10	0.42905	T	0.14	-6.4013	18.6712	0.91512	0.0:1.0:0.0:0.0	.	304;304	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	M	304	ENSP00000220592:V304M;ENSP00000430176:V304M	ENSP00000220592:V304M	V	-	1	0	EIF2C2	141636486	0.995000	0.38212	0.999000	0.59377	0.981000	0.71138	3.124000	0.50461	2.476000	0.83614	0.655000	0.94253	GTG		0.597	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			11	54	0	0	0	0.000978	0	11	54				
PTK2	5747	broad.mit.edu	37	8	141754835	141754835	+	Missense_Mutation	SNP	C	C	A	rs146511319	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:141754835C>A	ENST00000522684.1	-	19	1779	c.1550G>T	c.(1549-1551)aGt>aTt	p.S517I	PTK2_ENST00000521059.1_Missense_Mutation_p.S517I|PTK2_ENST00000520151.1_Missense_Mutation_p.Q111H|PTK2_ENST00000517887.1_Missense_Mutation_p.S561I|PTK2_ENST00000395218.2_Missense_Mutation_p.S517I|PTK2_ENST00000519465.1_Missense_Mutation_p.S145I|PTK2_ENST00000519419.1_Missense_Mutation_p.S561I|PTK2_ENST00000535192.1_Missense_Mutation_p.S517I|PTK2_ENST00000538769.1_Missense_Mutation_p.S185I|PTK2_ENST00000340930.3_Missense_Mutation_p.S517I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	517	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.S539I(1)|p.S517I(1)|p.S469I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAGATCCAAACTGTATTTCCT	0.348																																							uc003yvu.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1549-1551)AGT>ATT		PTK2 protein tyrosine kinase 2 isoform a							120.0	109.0	113.0					8																	141754835		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141754835C>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1550G>T	8.37:g.141754835C>A	ENSP00000429911:p.Ser517Ile					PTK2_uc003yvo.2_Missense_Mutation_p.S145I|PTK2_uc011ljq.1_Missense_Mutation_p.S212I|PTK2_uc003yvp.2_Missense_Mutation_p.S185I|PTK2_uc003yvq.2_Missense_Mutation_p.S43I|PTK2_uc003yvr.2_Missense_Mutation_p.S457I|PTK2_uc003yvs.2_Missense_Mutation_p.S517I|PTK2_uc003yvt.2_Missense_Mutation_p.S539I|PTK2_uc003yvv.2_Missense_Mutation_p.S417I|PTK2_uc011ljr.1_Missense_Mutation_p.S517I	p.S517I	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		19	1780	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	517			Protein kinase.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1550G>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.48|18.48	3.632540|3.632540	0.67015|0.67015	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207;ENST00000519024	.|D;D;D;D;D;D;D;D;D;D;D;D	.|0.83335	.|-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.38|5.38	3.59|3.59	0.41128|0.41128	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.120028	.|0.85682	.|D	.|0.000000	D|D	0.82426|0.82426	0.5034|0.5034	L|L	0.41027|0.41027	1.25|1.25	0.42842|0.42842	D|D	0.994052|0.994052	.|P;P;P;P;P;D;P;B;P;P	.|0.53745	.|0.924;0.687;0.847;0.733;0.847;0.962;0.646;0.042;0.726;0.466	.|P;P;P;P;P;P;B;B;P;B	.|0.53809	.|0.703;0.5;0.585;0.626;0.457;0.735;0.408;0.373;0.695;0.408	T|T	0.81814|0.81814	-0.0760|-0.0760	5|10	.|0.54805	.|T	.|0.06	.|.	11.4674|11.4674	0.50248|0.50248	0.0:0.8557:0.0:0.1443|0.0:0.8557:0.0:0.1443	.|.	.|517;212;437;517;539;517;469;365;185;145	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.|.;.;.;FAK1_HUMAN;.;.;.;.;.;.	H|I	527|517;517;145;561;517;469;517;438;212;189;517;185;561;215;363;152	.|ENSP00000429911:S517I;ENSP00000438009:S517I;ENSP00000429170:S145I;ENSP00000429082:S561I;ENSP00000429474:S517I;ENSP00000378644:S517I;ENSP00000428492:S189I;ENSP00000341189:S517I;ENSP00000445742:S185I;ENSP00000429129:S561I;ENSP00000430603:S215I;ENSP00000428232:S152I	.|ENSP00000341189:S517I	Q|S	-|-	3|2	2|0	PTK2|PTK2	141824017|141824017	0.977000|0.977000	0.34250|0.34250	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	1.471000|1.471000	0.35365|0.35365	0.664000|0.664000	0.31047|0.31047	0.591000|0.591000	0.81541|0.81541	CAG|AGT		0.348	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		11	49	1	0	0.000978159	0.000978	0.00109807	11	49				
PARP10	84875	broad.mit.edu	37	8	145060242	145060242	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:145060242G>C	ENST00000313028.7	-	2	256	c.162C>G	c.(160-162)ctC>ctG	p.L54L	PARP10_ENST00000533665.1_Intron|PARP10_ENST00000525773.1_Silent_p.L66L|PARP10_ENST00000524918.1_Silent_p.L54L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	54					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L54L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCTGAAGGTGAGGACGCCCC	0.632																																							uc003zal.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(160-162)CTC>CTG		poly (ADP-ribose) polymerase family, member 10							39.0	43.0	41.0					8																	145060242		2203	4300	6503	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145060242G>C	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.162C>G	8.37:g.145060242G>C						PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Silent_p.L66L|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.L54L|PARP10_uc010mfn.1_Silent_p.L54L|PARP10_uc010mfo.1_Intron	p.L54L	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	270	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		54					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.162C>G	CCDS34960.1																																																																																				0.632	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		8	39	0	0	0	0.00308	0	8	39				
SPATC1	375686	broad.mit.edu	37	8	145101812	145101812	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:145101812C>A	ENST00000377470.3	+	5	1833	c.1731C>A	c.(1729-1731)ctC>ctA	p.L577L	CTD-3065J16.6_ENST00000561181.1_RNA|SPATC1_ENST00000447830.2_3'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	577						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.L577L(1)|p.L486L(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCTGCCTCAGCCAGCTGG	0.682																																							uc011lkw.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1729-1731)CTC>CTA		spermatogenesis and centriole associated 1							49.0	48.0	48.0					8																	145101812		2203	4298	6501	SO:0001819	synonymous_variant	375686							g.chr8:145101812C>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1731C>A	8.37:g.145101812C>A						SPATC1_uc011lkx.1_3'UTR	p.L577L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1833	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		577					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.1731C>A	CCDS6413.2																																																																																				0.682	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		11	42	1	0	0.00010058	0.001368	0.000121128	11	42				
ZNF250	58500	broad.mit.edu	37	8	146107494	146107494	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:146107494C>T	ENST00000292579.7	-	6	1205	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.G358G|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G363G(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AGGGCTTCTCCCCGGTGTGGA	0.582																																					NSCLC(16;520 556 24096 40084 43446)	NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1087-1089)GGG>GGA		zinc finger protein 250 isoform a							115.0	87.0	96.0					8																	146107494		2203	4300	6503	SO:0001819	synonymous_variant	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107494C>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1089G>A	8.37:g.146107494C>T						COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.G358G|ZNF250_uc010mgg.2_Silent_p.G358G	p.G363G	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1206	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		363					D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	37	c.1089G>A	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	4.978	0.181673	0.09495	.	.	ENSG00000196150	ENST00000394912	.	.	.	3.94	-3.88	0.04205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6513	0.28350	0.0:0.2802:0.4678:0.252	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF250	146078298	0.006000	0.16342	0.749000	0.31150	0.662000	0.39071	-1.564000	0.02152	-0.822000	0.04306	0.313000	0.20887	.		0.582	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		4	17	0	0	0	0.009096	0	4	17				
DMRT2	10655	broad.mit.edu	37	9	1056563	1056563	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:1056563G>A	ENST00000358146.2	+	3	976	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	DMRT2_ENST00000382251.3_Missense_Mutation_p.V326I|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.V326I|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	326					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V326I(1)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTCTTCTAATGTCAGCGTGGC	0.458																																							uc003zha.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(976-978)GTC>ATC		doublesex and mab-3 related transcription factor							95.0	99.0	97.0					9																	1056563		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056563G>A	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.976G>A	9.37:g.1056563G>A	ENSP00000350865:p.Val326Ile					DMRT2_uc003zgx.3_Missense_Mutation_p.V93I|DMRT2_uc010mgz.2_Missense_Mutation_p.V93I|DMRT2_uc003zgy.3_Missense_Mutation_p.V170I|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.V326I	p.V326I	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	4	1176	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	326					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.976G>A	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333068	0.81801	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.37235	1.21;1.21;1.21	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.987;0.994	T	0.59026	-0.7531	10	0.56958	D	0.05	-20.7646	19.2806	0.94051	0.0:0.0:1.0:0.0	.	326;170	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	I	326	ENSP00000371686:V326I;ENSP00000305785:V326I;ENSP00000350865:V326I	ENSP00000305785:V326I	V	+	1	0	DMRT2	1046563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.665000	0.90641	0.650000	0.86243	GTC		0.458	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		15	42	0	0	0	0.003163	0	15	42				
CD274	29126	broad.mit.edu	37	9	5465513	5465513	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:5465513C>T	ENST00000381577.3	+	5	783	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	CD274_ENST00000381573.4_Missense_Mutation_p.H119Y|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	233					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H233Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ACCTCTGGCACATCCTCCAAA	0.388			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																		uc003zje.2		NA		Dom	yes		9	9p24	29126	T	CD274 molecule			L	CIITA		PMBL|Hodgkin Lymphona|		1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(697-699)CAT>TAT		CD274 molecule precursor							133.0	120.0	125.0					9																	5465513		2203	4300	6503	SO:0001583	missense	29126				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity	g.chr9:5465513C>T	AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.697C>T	9.37:g.5465513C>T	ENSP00000370989:p.His233Tyr					C9orf46_uc003zjd.2_Intron|CD274_uc011lmb.1_3'UTR|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_Missense_Mutation_p.H119Y	p.H233Y	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)	5	749	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	233			Extracellular (Potential).		B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	37	c.697C>T	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	C	0.186	-1.057739	0.01965	.	.	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.30714	1.52;5.2	3.23	-1.95	0.07548	.	3.370540	0.00541	N	0.000224	T	0.19967	0.0480	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.11329	0.006;0.002	T	0.14337	-1.0476	10	0.23891	T	0.37	-1.9144	7.1937	0.25841	0.0:0.4539:0.0:0.5461	.	119;233	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	Y	119;233	ENSP00000370985:H119Y;ENSP00000370989:H233Y	ENSP00000370985:H119Y	H	+	1	0	CD274	5455513	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.252000	0.02880	-0.508000	0.06540	0.563000	0.77884	CAT		0.388	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143		7	28	0	0	0	0.00308	0	7	28				
PTPRD	5789	broad.mit.edu	37	9	8499764	8499764	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:8499764G>T	ENST00000381196.4	-	22	2748	c.2205C>A	c.(2203-2205)ccC>ccA	p.P735P	PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000355233.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	735	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P735P(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATTGGGCACGGGTGAGCGCC	0.483										TSP Lung(15;0.13)																													uc003zkk.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2203-2205)CCC>CCA		protein tyrosine phosphatase, receptor type, D							172.0	150.0	157.0					9																	8499764		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499764G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2205C>A	9.37:g.8499764G>T		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.P735P|PTPRD_uc003zkm.2_Silent_p.P722P|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.P735P	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	24	2916	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	735			Fibronectin type-III 5.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2205C>A	CCDS43786.1																																																																																				0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			17	62	1	0	0.006122	0.006122	0.00658806	17	62				
PTPRD	5789	broad.mit.edu	37	9	8518231	8518231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:8518231G>T	ENST00000381196.4	-	18	1703	c.1160C>A	c.(1159-1161)tCg>tAg	p.S387*	PTPRD_ENST00000486161.1_Nonsense_Mutation_p.S387*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.S374*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.S384*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.S377*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.S387*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.S384*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.S377*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.S374*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.S387*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.S387*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	387	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S387*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCATAATCCGAGTAGGGACT	0.483										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - Nonsense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1159-1161)TCG>TAG		protein tyrosine phosphatase, receptor type, D							143.0	143.0	143.0					9																	8518231		2203	4300	6503	SO:0001587	stop_gained	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518231G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1160C>A	9.37:g.8518231G>T	ENSP00000370593:p.Ser387*	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Nonsense_Mutation_p.S387*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.S387*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.S381*|PTPRD_uc003zks.2_Nonsense_Mutation_p.S377*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.S387*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.S374*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.S387*|PTPRD_uc003zko.2_Nonsense_Mutation_p.S384*	p.S387*	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	1871	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	387			Fibronectin type-III 1.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	ENST00000381196.4	37	c.1160C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	37	6.275345	0.97435	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6464	0.91411	0.0:0.0:1.0:0.0	.	.	.	.	X	387;387;374;374;387;377;384;384;387;387;387;377	.	.	S	-	2	0	PTPRD	8508231	1.000000	0.71417	0.980000	0.43619	0.579000	0.36224	9.807000	0.99171	2.392000	0.81423	0.460000	0.39030	TCG		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			19	83	1	0	8.10497e-08	0.010504	1.18008e-07	19	83				
FREM1	158326	broad.mit.edu	37	9	14859203	14859203	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:14859203T>C	ENST00000380880.3	-	4	1392	c.609A>G	c.(607-609)ccA>ccG	p.P203P	FREM1_ENST00000380881.4_Silent_p.P203P|FREM1_ENST00000422223.2_Silent_p.P203P			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	203					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.P203P(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAAAACTGTGTGGCTGATCTC	0.507																																							uc003zlm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(607-609)CCA>CCG		FRAS1 related extracellular matrix 1 precursor							48.0	49.0	48.0					9																	14859203		1885	4114	5999	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14859203T>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.609A>G	9.37:g.14859203T>C						FREM1_uc010mic.2_RNA	p.P203P	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	4	1199	-			203					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.609A>G	CCDS47952.1																																																																																				0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		5	23	0	0	0	0.000602	0	5	23				
IFNA6	3443	broad.mit.edu	37	9	21350617	21350617	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:21350617G>T	ENST00000380210.1	-	1	760	c.270C>A	c.(268-270)ctC>ctA	p.L90L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	90					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L90L(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTGTGCTGAAGAGGTTGAAGG	0.483																																							uc011lni.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)CTC>CTA		interferon, alpha 6 precursor							109.0	108.0	108.0					9																	21350617		2203	4300	6503	SO:0001819	synonymous_variant	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350617G>T		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.270C>A	9.37:g.21350617G>T							p.L90L	NM_021002	NP_066282	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	270	-			90					Q5VYQ1	Silent	SNP	ENST00000380210.1	37	c.270C>A	CCDS6504.1																																																																																				0.483	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		18	53	1	0	1.01871e-10	0.008871	1.64257e-10	18	53				
PIGO	84720	broad.mit.edu	37	9	35092239	35092239	+	Missense_Mutation	SNP	C	C	A	rs530041949		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:35092239C>A	ENST00000378617.3	-	7	2039	c.1645G>T	c.(1645-1647)Gtc>Ttc	p.V549F	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Missense_Mutation_p.V549F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	549					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.V549F(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTAACAGGACGGGCCCAGGG	0.572																																							uc003zwd.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1645-1647)GTC>TTC		phosphatidylinositol glycan anchor biosynthesis,							55.0	59.0	58.0					9																	35092239		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092239C>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1645G>T	9.37:g.35092239C>A	ENSP00000367880:p.Val549Phe					PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.V112F	p.V549F	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2041	-			549			Helical; (Potential).		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1645G>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	4.657	0.122161	0.08931	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56611	0.45;0.45	5.55	3.5	0.40072	.	0.329037	0.35179	N	0.003385	T	0.40247	0.1109	L	0.54323	1.7	0.22762	N	0.998766	P	0.34780	0.468	B	0.32022	0.139	T	0.20472	-1.0274	10	0.10111	T	0.7	-12.7678	9.2019	0.37263	0.0:0.743:0.0:0.257	.	549	Q8TEQ8	PIGO_HUMAN	F	549	ENSP00000367880:V549F;ENSP00000339382:V549F	ENSP00000339382:V549F	V	-	1	0	PIGO	35082239	0.965000	0.33210	0.919000	0.36401	0.057000	0.15508	0.720000	0.25896	1.503000	0.48686	0.655000	0.94253	GTC		0.572	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		12	40	1	0	0.00244969	0.00245	0.00268581	12	40				
TLN1	7094	broad.mit.edu	37	9	35700302	35700302	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:35700302G>A	ENST00000314888.9	-	49	6899	c.6546C>T	c.(6544-6546)atC>atT	p.I2182I	TLN1_ENST00000540444.1_Silent_p.I2070I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2182					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.I2182M(1)|p.I2182I(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCCATGGTGATACCCTTGG	0.537																																							uc003zxt.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		upper_aerodigestive_tract(1)|lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(6544-6546)ATC>ATT		talin 1							69.0	70.0	70.0					9																	35700302		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35700302G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6546C>T	9.37:g.35700302G>A							p.I2182I	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		49	6900	-	all_epithelial(49;0.167)		2182					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.6546C>T	CCDS35009.1																																																																																				0.537	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		11	35	0	0	0	0.008291	0	11	35				
TLN1	7094	broad.mit.edu	37	9	35700304	35700304	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:35700304T>A	ENST00000314888.9	-	49	6897	c.6544A>T	c.(6544-6546)Atc>Ttc	p.I2182F	TLN1_ENST00000540444.1_Missense_Mutation_p.I2070F	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2182					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.I2182F(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCATGGTGATACCCTTGGTC	0.527																																							uc003zxt.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(6544-6546)ATC>TTC		talin 1							70.0	70.0	70.0					9																	35700304		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35700304T>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6544A>T	9.37:g.35700304T>A	ENSP00000316029:p.Ile2182Phe						p.I2182F	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		49	6898	-	all_epithelial(49;0.167)		2182					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6544A>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954263	0.92726	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70986	-0.53;-0.49	5.2	5.2	0.72013	.	0.109437	0.64402	D	0.000011	T	0.81866	0.4913	M	0.81942	2.565	0.80722	D	1	D	0.63046	0.992	P	0.58013	0.831	D	0.84797	0.0782	10	0.66056	D	0.02	-15.7022	14.7488	0.69508	0.0:0.0:0.0:1.0	.	2182	Q9Y490	TLN1_HUMAN	F	2182;2070	ENSP00000316029:I2182F;ENSP00000442981:I2070F	ENSP00000316029:I2182F	I	-	1	0	TLN1	35690304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.967000	0.87967	1.972000	0.57404	0.533000	0.62120	ATC		0.527	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		10	34	0	0	0	0.006214	0	10	34				
PTGER4P2	5736	broad.mit.edu	37	9	66499826	66499826	+	IGR	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:66499826A>T								RP11-262H14.1 (30516 upstream) : RP11-262H14.7 (17379 downstream)																							CCTTCTATACAGTTATGCGGC	0.602																																							uc004aee.1		NA																	0					0						c.(634-636)ACA>ACT		Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																																				SO:0001628	intergenic_variant	442421							g.chr9:66499826A>T																													9.37:g.66499826A>T						LOC442421_uc004aed.1_RNA	p.T212T							1	636	+									Silent	SNP		37	c.636A>T																																																																																				0	0.602									3	33	0	0	0	0.004672	0	3	33				
PIP5K1B	8395	broad.mit.edu	37	9	71555567	71555567	+	Missense_Mutation	SNP	G	G	C	rs201702261		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:71555567G>C	ENST00000265382.3	+	14	1668	c.1363G>C	c.(1363-1365)Gga>Cga	p.G455R	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G455R	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	455					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.G455R(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCTAGCCCTGGGATCCCGACA	0.418																																							uc004agu.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(1363-1365)GGA>CGA		phosphatidylinositol-4-phosphate 5-kinase, type							241.0	196.0	211.0					9																	71555567		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71555567G>C	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1363G>C	9.37:g.71555567G>C	ENSP00000265382:p.Gly455Arg					PIP5K1B_uc011lrq.1_Missense_Mutation_p.G455R|PIP5K1B_uc004agv.2_RNA	p.G455R	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	14	1668	+			455					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1363G>C	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475170	0.43942	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.26067	1.77;1.76	5.78	5.78	0.91487	.	0.172871	0.52532	D	0.000077	T	0.18383	0.0441	L	0.29908	0.895	0.35167	D	0.771228	B	0.10296	0.003	B	0.11329	0.006	T	0.16897	-1.0387	10	0.11794	T	0.64	-2.49	13.2353	0.59967	0.0724:0.0:0.9276:0.0	.	455	O14986	PI51B_HUMAN	R	455;455;455;402	ENSP00000438082:G455R;ENSP00000265382:G455R	ENSP00000265382:G455R	G	+	1	0	PIP5K1B	70745387	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	5.304000	0.65744	2.731000	0.93534	0.655000	0.94253	GGA		0.418	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		16	84	0	0	0	0.006122	0	16	84				
SMC5	23137	broad.mit.edu	37	9	72967157	72967157	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:72967157C>T	ENST00000361138.5	+	25	3274	c.3216C>T	c.(3214-3216)taC>taT	p.Y1072Y	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1072					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.Y1072Y(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGTTTGTCTACAATGGCCCTC	0.358																																							uc004ahr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3214-3216)TAC>TAT		SMC5 protein							101.0	106.0	104.0					9																	72967157		2203	4300	6503	SO:0001819	synonymous_variant	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72967157C>T	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.3216C>T	9.37:g.72967157C>T						SMC5_uc011lry.1_Silent_p.Y217Y	p.Y1072Y	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			25	3333	+			1072					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	ENST00000361138.5	37	c.3216C>T	CCDS6632.1																																																																																				0.358	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		15	96	0	0	0	0.00245	0	15	96				
C9orf85	138241	broad.mit.edu	37	9	74526692	74526692	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:74526692G>A	ENST00000377031.3	+	1	232	c.42G>A	c.(40-42)caG>caA	p.Q14Q	C9orf85_ENST00000486911.2_Silent_p.Q14Q|ABHD17B_ENST00000377041.2_5'Flank|ABHD17B_ENST00000333421.6_5'Flank|C9orf85_ENST00000334731.2_Silent_p.Q14Q			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	14								p.Q14Q(2)		kidney(2)|large_intestine(1)|lung(4)	7						CCAGACCTCAGAAGCACCAGA	0.512																																							uc004ain.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(40-42)CAG>CAA		hypothetical protein LOC138241							175.0	174.0	174.0					9																	74526692		2203	4300	6503	SO:0001819	synonymous_variant	138241							g.chr9:74526692G>A	BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.42G>A	9.37:g.74526692G>A						C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	p.Q14Q	NM_182505	NP_872311	Q96MD7	CI085_HUMAN			1	270	+			14					Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Silent	SNP	ENST00000377031.3	37	c.42G>A																																																																																					0.512	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2	NM_182505		21	135	0	0	0	0.004656	0	21	135				
PCSK5	5125	broad.mit.edu	37	9	78710913	78710913	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:78710913C>T	ENST00000545128.1	+	8	1540	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	PCSK5_ENST00000376752.4_Silent_p.S334S|PCSK5_ENST00000376767.3_Silent_p.S334S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	334	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.S334S(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACACCATCTCCATCAGCAGCA	0.532																																							uc004ajz.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(2)|skin(1)	3						c.(1000-1002)TCC>TCT		proprotein convertase subtilisin/kexin type 5							175.0	142.0	154.0					9																	78710913		2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78710913C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1002C>T	9.37:g.78710913C>T						PCSK5_uc004ajy.2_Silent_p.S334S|PCSK5_uc004aka.2_RNA	p.S334S	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			8	1540	+			334			Catalytic.		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.1002C>T	CCDS55320.1																																																																																				0.532	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	35	0	0	0	0.009096	0	4	35				
SLC28A3	64078	broad.mit.edu	37	9	86912137	86912137	+	Splice_Site	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:86912137T>C	ENST00000376238.4	-	8	909	c.860A>G	c.(859-861)aAg>aGg	p.K287R	SLC28A3_ENST00000537648.1_Splice_Site_p.K218R	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	287					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.K287R(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TGACTTTACCTTAAATGCAAA	0.368																																					Ovarian(106;425 1539 34835 42413 43572)	Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(859-861)AAG>AGG		concentrative Na+-nucleoside cotransporter							65.0	66.0	66.0					9																	86912137		2203	4300	6503	SO:0001630	splice_region_variant	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86912137T>C	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.861+1A>G	9.37:g.86912137T>C						SLC28A3_uc011lsy.1_Missense_Mutation_p.K218R|SLC28A3_uc004anu.1_Missense_Mutation_p.K287R|SLC28A3_uc010mqb.2_Missense_Mutation_p.K218R	p.K287R	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			8	985	-			287			Extracellular (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.860A>G	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244927	0.79912	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.30714	1.52;1.52	5.57	5.57	0.84162	Nucleoside recognition (1);	0.158743	0.56097	D	0.000033	T	0.32133	0.0819	L	0.41079	1.255	0.46376	D	0.999011	B;P	0.36587	0.385;0.559	B;B	0.43274	0.275;0.414	T	0.05115	-1.0905	10	0.27785	T	0.31	-17.4178	13.954	0.64135	0.0:0.0:0.0:1.0	.	218;287	B4E2S8;Q9HAS3	.;S28A3_HUMAN	R	287;218	ENSP00000365413:K287R;ENSP00000446438:K218R	ENSP00000365413:K287R	K	-	2	0	SLC28A3	86101957	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.678000	0.61641	2.123000	0.65237	0.460000	0.39030	AAG		0.368	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	Missense_Mutation	6	33	0	0	0	0.001984	0	6	33				
SPATA31C1	441452	broad.mit.edu	37	9	90537715	90537715	+	RNA	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:90537715T>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGGGAGAACTCTAGGAAGCC	0.478																																							uc010mqi.2		NA																	0					0						c.(2893-2895)TCT>ACT		family with sequence similarity 75, member C1							3.0	3.0	3.0					9																	90537715		614	1431	2045			441452							g.chr9:90537715T>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537715T>A						FAM75C1_uc004apq.3_Missense_Mutation_p.S948T	p.S965T	NM_001145124	NP_001138596					4	2922	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.2893T>A																																																																																					0.478	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		17	50	0	0	0	0.007413	0	17	50				
SPATA31C1	441452	broad.mit.edu	37	9	90537946	90537946	+	RNA	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:90537946C>G	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGCTGAGAGCCAAAAAACAGT	0.448																																							uc010mqi.2		NA																	0					0						c.(3124-3126)CAA>GAA		family with sequence similarity 75, member C1							15.0	15.0	15.0					9																	90537946		687	1587	2274			441452							g.chr9:90537946C>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537946C>G						FAM75C1_uc004apq.3_Missense_Mutation_p.Q1025E	p.Q1042E	NM_001145124	NP_001138596					4	3153	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.3124C>G																																																																																					0.448	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		11	38	0	0	0	0.008291	0	11	38				
WNK2	65268	broad.mit.edu	37	9	95992121	95992121	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:95992121G>T	ENST00000297954.4	+	2	825	c.825G>T	c.(823-825)acG>acT	p.T275T	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.T275T|WNK2_ENST00000395475.2_Silent_p.T261T|WNK2_ENST00000427277.2_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T261T(1)|p.T275T(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCTGGTGACGGAGCTGATGA	0.622																																							uc004ati.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(823-825)ACG>ACT		WNK lysine deficient protein kinase 2							70.0	54.0	59.0					9																	95992121		2203	4300	6503	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:95992121G>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.825G>T	9.37:g.95992121G>T						WNK2_uc011lud.1_Silent_p.T275T|WNK2_uc004atj.2_Silent_p.T275T|WNK2_uc010mrc.1_Silent_p.T275T|WNK2_uc010mrd.1_5'Flank	p.T275T	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			2	825	+			275			Protein kinase.		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.825G>T		.	.	.	.	.	.	.	.	.	.	G	8.390	0.839561	0.16891	.	.	ENSG00000165238	ENST00000432730	.	.	.	5.43	-10.9	0.00192	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55231	-0.8173	4	.	.	.	.	3.2984	0.06974	0.1886:0.0913:0.3441:0.376	.	.	.	.	L	271	.	.	R	+	2	0	WNK2	95031942	0.000000	0.05858	0.016000	0.15963	0.985000	0.73830	-4.864000	0.00176	-4.452000	0.00048	-0.757000	0.03467	CGG		0.622	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		5	10	1	0	0.000602214	0.000602	0.000682885	5	10				
COL15A1	1306	broad.mit.edu	37	9	101806849	101806849	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:101806849G>A	ENST00000375001.3	+	25	2997		c.e25-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGAATTGCAGGGCGAGAAGG	0.517																																							uc004azb.1		NA																	1	Unknown(1)		lung(1)	ovary(6)	6						c.e25-1		alpha 1 type XV collagen precursor							101.0	97.0	98.0					9																	101806849		2203	4300	6503	SO:0001630	splice_region_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101806849G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2575-1G>A	9.37:g.101806849G>A							p.G859_splice	NM_001855	NP_001846	P39059	COFA1_HUMAN			25	2781	+		Acute lymphoblastic leukemia(62;0.0562)						Q5T6J4|Q9UDC5|Q9Y4W4	Splice_Site	SNP	ENST00000375001.3	37	c.2575_splice	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458038	0.26161	.	.	ENSG00000204291	ENST00000375001	.	.	.	4.99	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7142	0.51643	0.0:0.1785:0.8215:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL15A1	100846670	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	5.719000	0.68462	1.220000	0.43490	0.491000	0.48974	.		0.517	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Intron	6	52	0	0	0	0.001984	0	6	52				
GRIN3A	116443	broad.mit.edu	37	9	104433159	104433159	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:104433159T>A	ENST00000361820.3	-	3	2135	c.1535A>T	c.(1534-1536)aAg>aTg	p.K512M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	512					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.K512M(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CAAGTGTAGCTTACTTGGATG	0.517																																							uc004bbp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1534-1536)AAG>ATG		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						213.0	187.0	196.0					9																	104433159		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433159T>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1535A>T	9.37:g.104433159T>A	ENSP00000355155:p.Lys512Met					GRIN3A_uc004bbq.1_Missense_Mutation_p.K512M	p.K512M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2136	-		Acute lymphoblastic leukemia(62;0.0568)	512			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1535A>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663680	0.47572	.	.	ENSG00000198785	ENST00000361820	T	0.12361	2.69	5.87	3.29	0.37713	.	0.135771	0.47093	D	0.000260	T	0.08403	0.0209	N	0.22421	0.69	0.32966	D	0.521693	B	0.16603	0.018	B	0.18561	0.022	T	0.05582	-1.0876	10	0.66056	D	0.02	.	4.6819	0.12739	0.0:0.4089:0.0:0.5911	.	512	Q8TCU5	NMD3A_HUMAN	M	512	ENSP00000355155:K512M	ENSP00000355155:K512M	K	-	2	0	GRIN3A	103472980	0.995000	0.38212	0.598000	0.28837	0.908000	0.53690	2.916000	0.48813	1.166000	0.42689	0.533000	0.62120	AAG		0.517	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			17	74	0	0	0	0.007413	0	17	74				
CYLC2	1539	broad.mit.edu	37	9	105767801	105767801	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:105767801C>A	ENST00000374798.3	+	5	958	c.888C>A	c.(886-888)gcC>gcA	p.A296A	CYLC2_ENST00000487798.1_Silent_p.A296A	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	296	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A296A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				agaaggacgccacgaaagatg	0.388																																							uc004bbs.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(886-888)GCC>GCA		cylicin 2							76.0	73.0	74.0					9																	105767801		2203	4300	6503	SO:0001819	synonymous_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767801C>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.888C>A	9.37:g.105767801C>A							p.A296A	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			5	958	+		all_hematologic(171;0.125)	296			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	37	c.888C>A	CCDS35085.1																																																																																				0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		4	12	1	0	0.00909568	0.009096	0.00969496	4	12				
OR13C5	138799	broad.mit.edu	37	9	107360953	107360953	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:107360953C>A	ENST00000374779.2	-	1	835	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AATGTTATCACCACAGTCAGA	0.423																																							uc011lvp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(742-744)GTG>TTG		olfactory receptor, family 13, subfamily C,							149.0	130.0	137.0					9																	107360953		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107360953C>A		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.742G>T	9.37:g.107360953C>A	ENSP00000363911:p.Val248Leu						p.V248L	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	742	-			248			Helical; Name=6; (Potential).		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.742G>T	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216316	0.39201	.	.	ENSG00000255800	ENST00000374779	T	0.00355	7.91	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32687	U	0.005775	T	0.01061	0.0035	M	0.92169	3.28	0.25628	N	0.986337	D	0.76494	0.999	D	0.77557	0.99	T	0.12016	-1.0564	10	0.87932	D	0	.	13.3495	0.60593	0.0:1.0:0.0:0.0	.	248	Q8NGS8	O13C5_HUMAN	L	248	ENSP00000363911:V248L	ENSP00000363911:V248L	V	-	1	0	OR13C5	106400774	0.868000	0.29978	0.957000	0.39632	0.228000	0.25075	1.715000	0.37971	1.994000	0.58287	0.423000	0.28283	GTG		0.423	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		12	64	1	0	9.05144e-12	0.001855	1.4959e-11	12	64				
OR13C2	392376	broad.mit.edu	37	9	107367420	107367420	+	Silent	SNP	C	C	A	rs199861043		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:107367420C>A	ENST00000542196.1	-	1	531	c.489G>T	c.(487-489)gtG>gtT	p.V163V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V163V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCAATTGTACCACAAACACTG	0.443																																							uc011lvq.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(487-489)GTG>GTT		olfactory receptor, family 13, subfamily C,							114.0	149.0	137.0					9																	107367420		2202	4300	6502	SO:0001819	synonymous_variant	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367420C>A		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.489G>T	9.37:g.107367420C>A							p.V163V	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	489	-			163			Extracellular (Potential).		B9EGV8|Q6IF54	Silent	SNP	ENST00000542196.1	37	c.489G>T	CCDS35092.1																																																																																				0.443	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		11	99	1	0	2.27111e-07	0.001368	3.21042e-07	11	99				
ASTN2	23245	broad.mit.edu	37	9	119737583	119737583	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:119737583C>T	ENST00000313400.4	-	10	1893	c.1793G>A	c.(1792-1794)aGc>aAc	p.S598N	ASTN2_ENST00000373996.3_Missense_Mutation_p.S594N|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S547N			O75129	ASTN2_HUMAN	astrotactin 2	598					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.S547N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAAGCTTTTGCTGACAGGAAG	0.542																																							uc004bjs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1792-1794)AGC>AAC		astrotactin 2 isoform c							75.0	72.0	73.0					9																	119737583		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119737583C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1793G>A	9.37:g.119737583C>T	ENSP00000314038:p.Ser598Asn					ASTN2_uc004bjr.1_Missense_Mutation_p.S594N|ASTN2_uc004bjt.1_Missense_Mutation_p.S547N	p.S598N	NM_198187	NP_937830	O75129	ASTN2_HUMAN			10	1894	-			598			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1793G>A		.	.	.	.	.	.	.	.	.	.	C	19.22	3.785125	0.70222	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.18338	2.37;2.37;2.22;2.43	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	L	0.29908	0.895	0.58432	D	0.999992	D;P;D	0.71674	0.998;0.919;0.995	D;P;D	0.80764	0.994;0.45;0.958	T	0.01093	-1.1454	9	.	.	.	-27.6919	20.0323	0.97544	0.0:1.0:0.0:0.0	.	547;598;594	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	N	598;594;321;547	ENSP00000314038:S598N;ENSP00000363108:S594N;ENSP00000363098:S321N;ENSP00000354504:S547N	.	S	-	2	0	ASTN2	118777404	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.006000	0.70724	2.736000	0.93811	0.561000	0.74099	AGC		0.542	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		5	59	0	0	0	0.000602	0	5	59				
ASTN2	23245	broad.mit.edu	37	9	119737608	119737608	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:119737608C>A	ENST00000313400.4	-	10	1868	c.1768G>T	c.(1768-1770)Ggc>Tgc	p.G590C	ASTN2_ENST00000373996.3_Missense_Mutation_p.G586C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.G539C			O75129	ASTN2_HUMAN	astrotactin 2	590					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.G539C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGCCTTGGCCCAAGCTGAAA	0.552																																							uc004bjs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1768-1770)GGC>TGC		astrotactin 2 isoform c							63.0	60.0	61.0					9																	119737608		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119737608C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1768G>T	9.37:g.119737608C>A	ENSP00000314038:p.Gly590Cys					ASTN2_uc004bjr.1_Missense_Mutation_p.G586C|ASTN2_uc004bjt.1_Missense_Mutation_p.G539C	p.G590C	NM_198187	NP_937830	O75129	ASTN2_HUMAN			10	1869	-			590			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1768G>T		.	.	.	.	.	.	.	.	.	.	C	19.65	3.867969	0.72065	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.26373	1.74;2.22;2.09;1.87	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.05989	-1.0852	9	.	.	.	-33.3844	20.0323	0.97544	0.0:1.0:0.0:0.0	.	539;590;586	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	590;586;313;539	ENSP00000314038:G590C;ENSP00000363108:G586C;ENSP00000363098:G313C;ENSP00000354504:G539C	.	G	-	1	0	ASTN2	118777429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.736000	0.93811	0.561000	0.74099	GGC		0.552	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	48	1	0	8.12818e-05	0.001984	9.82943e-05	7	48				
CNTRL	11064	broad.mit.edu	37	9	123877466	123877466	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:123877466A>T	ENST00000373855.1	+	11	1703	c.1443A>T	c.(1441-1443)atA>atT	p.I481I	CNTRL_ENST00000238341.5_Silent_p.I481I|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	481					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.I481I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGAAGCTATACAACTAAAAA	0.318																																							uc004bkx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1441-1443)ATA>ATT		centrosomal protein 110kDa							70.0	71.0	71.0					9																	123877466		2203	4297	6500	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123877466A>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1443A>T	9.37:g.123877466A>T						CEP110_uc004bky.1_Silent_p.I85I	p.I481I	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			9	1474	+			481			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.1443A>T	CCDS35118.1																																																																																				0.318	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		6	41	0	0	0	0.001168	0	6	41				
PTGS1	5742	broad.mit.edu	37	9	125154597	125154597	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:125154597G>C	ENST00000362012.2	+	11	1579	c.1574G>C	c.(1573-1575)gGg>gCg	p.G525A	PTGS1_ENST00000540753.1_Missense_Mutation_p.G463A|PTGS1_ENST00000223423.4_Missense_Mutation_p.G488A|PTGS1_ENST00000373698.5_Missense_Mutation_p.G416A	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	525					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.G525A(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATAGAGATTGGGGCTCCCTTT	0.498																																							uc004bmg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1573-1575)GGG>GCG		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						98.0	101.0	100.0					9																	125154597		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154597G>C	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1574G>C	9.37:g.125154597G>C	ENSP00000354612:p.Gly525Ala					PTGS1_uc011lys.1_Missense_Mutation_p.G463A|PTGS1_uc010mwb.1_Missense_Mutation_p.G379A|PTGS1_uc004bmf.1_Missense_Mutation_p.G488A|PTGS1_uc004bmh.1_Missense_Mutation_p.G416A|PTGS1_uc011lyt.1_Missense_Mutation_p.G416A	p.G525A	NM_000962	NP_000953	P23219	PGH1_HUMAN			11	1709	+			525					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1574G>C	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854430	0.91355	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.88543	0.3111	10	0.62326	D	0.03	-28.6756	18.2032	0.89846	0.0:0.0:1.0:0.0	.	463;525;488	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	A	463;525;488;416	ENSP00000437709:G463A;ENSP00000354612:G525A;ENSP00000223423:G488A;ENSP00000362802:G416A	ENSP00000223423:G488A	G	+	2	0	PTGS1	124194418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.539000	0.85634	0.655000	0.94253	GGG		0.498	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			19	65	0	0	0	0.001882	0	19	65				
CRB2	286204	broad.mit.edu	37	9	126136903	126136903	+	Silent	SNP	C	C	A	rs148933240		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:126136903C>A	ENST00000373631.3	+	11	3436	c.3435C>A	c.(3433-3435)ctC>ctA	p.L1145L	CRB2_ENST00000373629.2_Silent_p.L813L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1145	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.L1145L(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCACCTGCCTCGATGGCAGCC	0.657																																							uc004bnx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3433-3435)CTC>CTA		crumbs homolog 2 precursor							72.0	62.0	65.0					9																	126136903		2203	4300	6503	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126136903C>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3435C>A	9.37:g.126136903C>A							p.L1145L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			11	3527	+			1145			Extracellular (Potential).|EGF-like 14.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.3435C>A	CCDS6852.2																																																																																				0.657	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		10	24	1	0	0.00621372	0.006214	0.00666704	10	24				
STXBP1	6812	broad.mit.edu	37	9	130432211	130432211	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:130432211A>T	ENST00000373299.1	+	11	1052	c.937A>T	c.(937-939)Agc>Tgc	p.S313C	STXBP1_ENST00000373302.3_Missense_Mutation_p.S313C	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	313					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.S313C(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTTTTCTTCTAGCAAGAGAAT	0.463																																							uc004brl.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(937-939)AGC>TGC		syntaxin binding protein 1 isoform b							131.0	144.0	140.0					9																	130432211		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130432211A>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.937A>T	9.37:g.130432211A>T	ENSP00000362396:p.Ser313Cys					STXBP1_uc004brk.2_Missense_Mutation_p.S313C	p.S313C	NM_001032221	NP_001027392	P61764	STXB1_HUMAN			11	1134	+			313					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.937A>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.874835	0.91664	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.78364	-1.17;-1.17	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89791	0.6817	M	0.91140	3.18	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.967	D	0.91897	0.5528	10	0.87932	D	0	-2.8529	13.9878	0.64345	1.0:0.0:0.0:0.0	.	313;313	P61764;P61764-2	STXB1_HUMAN;.	C	267;313;145;313	ENSP00000362399:S313C;ENSP00000362396:S313C	ENSP00000362396:S313C	S	+	1	0	STXBP1	129472032	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	8.757000	0.91657	2.248000	0.74166	0.528000	0.53228	AGC		0.463	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		28	112	0	0	0	0.002836	0	28	112				
SH2D3C	10044	broad.mit.edu	37	9	130511549	130511549	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:130511549G>A	ENST00000314830.8	-	5	1193	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V	SH2D3C_ENST00000420366.1_Silent_p.V202V|SH2D3C_ENST00000373274.3_Silent_p.V200V|SH2D3C_ENST00000373277.4_Silent_p.V203V|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Silent_p.V6V|SH2D3C_ENST00000373276.3_Silent_p.V292V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	360					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.V360V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGTCATGGTGACGCTGCGCC	0.642																																							uc004bsc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1078-1080)GTC>GTT		SH2 domain containing 3C isoform a							64.0	63.0	63.0					9																	130511549		2203	4300	6503	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511549G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1080C>T	9.37:g.130511549G>A						SH2D3C_uc010mxo.2_Silent_p.V200V|SH2D3C_uc004bry.2_Silent_p.V202V|SH2D3C_uc004brz.3_Silent_p.V6V|SH2D3C_uc011mak.1_Silent_p.V6V|SH2D3C_uc004bsa.2_Silent_p.V203V|SH2D3C_uc004bsb.2_Silent_p.V292V	p.V360V	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			5	1222	-			360					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.1080C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	9.179	1.023131	0.19433	.	.	ENSG00000095370	ENST00000440630	.	.	.	5.37	4.46	0.54185	.	.	.	.	.	T	0.59487	0.2197	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57323	-0.7831	4	.	.	.	-13.9087	9.0616	0.36438	0.1694:0.0:0.8306:0.0	.	.	.	.	L	197	.	.	S	-	2	0	SH2D3C	129551370	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.501000	0.53325	1.380000	0.46344	0.561000	0.74099	TCA		0.642	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		8	34	0	0	0	0.004482	0	8	34				
SARDH	1757	broad.mit.edu	37	9	136573484	136573484	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:136573484G>T	ENST00000371872.4	-	11	1652	c.1395C>A	c.(1393-1395)gcC>gcA	p.A465A	SARDH_ENST00000439388.1_Silent_p.A465A|SARDH_ENST00000422262.2_Silent_p.A297A	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	465					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.A465A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGTAGTTCTTGGCGTAGGACT	0.652																																							uc004cep.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1393-1395)GCC>GCA		sarcosine dehydrogenase precursor							100.0	102.0	101.0					9																	136573484		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573484G>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1395C>A	9.37:g.136573484G>T						SARDH_uc004ceo.2_Silent_p.A465A|SARDH_uc011mdn.1_Silent_p.A465A|SARDH_uc011mdo.1_Silent_p.A297A	p.A465A	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1529	-			465					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1395C>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	8.515	0.867521	0.17250	.	.	ENSG00000123453	ENST00000539227	.	.	.	5.16	4.26	0.50523	.	.	.	.	.	T	0.73791	0.3632	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77056	-0.2729	5	0.72032	D	0.01	-29.3068	13.6136	0.62094	0.0754:0.0:0.9246:0.0	.	.	.	.	K	465	.	ENSP00000441529:Q465K	Q	-	1	0	SARDH	135563305	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	3.814000	0.55643	1.161000	0.42604	-0.251000	0.11542	CAA		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			9	53	1	0	0.000673444	0.008291	0.000757755	9	53				
ABCA2	20	broad.mit.edu	37	9	139905127	139905127	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:139905127C>A	ENST00000371605.3	-	39	6263	c.6116G>T	c.(6115-6117)cGa>cTa	p.R2039L	ABCA2_ENST00000265662.5_Missense_Mutation_p.R2040L|ABCA2_ENST00000341511.6_Missense_Mutation_p.R2040L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2039					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.R2040L(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCGGAGCACTCGCTGCCGCTC	0.632																																							uc011mem.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(6115-6117)CGA>CTA		ATP-binding cassette, sub-family A, member 2							99.0	111.0	107.0					9																	139905127		2146	4253	6399	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139905127C>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6116G>T	9.37:g.139905127C>A	ENSP00000360666:p.Arg2039Leu					ABCA2_uc011mel.1_Missense_Mutation_p.R2040L|ABCA2_uc004ckl.1_Missense_Mutation_p.R1970L|ABCA2_uc004ckm.1_Missense_Mutation_p.R2070L	p.R2039L	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	39	6264	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2039					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.6116G>T		.	.	.	.	.	.	.	.	.	.	C	16.88	3.244665	0.59103	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.94613	-3.47;-3.47;-3.47	3.72	2.81	0.32909	.	0.461090	0.20805	U	0.085358	D	0.94401	0.8199	L	0.49778	1.585	0.50467	D	0.999872	D;D	0.63046	0.992;0.992	P;P	0.54664	0.758;0.758	D	0.93673	0.6992	10	0.66056	D	0.02	.	12.9141	0.58197	0.0:0.8235:0.1765:0.0	.	2039;2070	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	L	2040;2039;2070;2040	ENSP00000265662:R2040L;ENSP00000360666:R2039L;ENSP00000344155:R2040L	ENSP00000265662:R2040L	R	-	2	0	ABCA2	139024948	1.000000	0.71417	0.295000	0.24960	0.206000	0.24218	5.576000	0.67437	0.763000	0.33175	0.297000	0.19635	CGA		0.632	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		19	71	1	0	2.21704e-12	0.00278	3.6976e-12	19	71				
ENTPD2	954	broad.mit.edu	37	9	139944322	139944322	+	Splice_Site	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:139944322C>G	ENST00000355097.2	-	7	1196	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	ENTPD2_ENST00000312665.5_Splice_Site_p.Q383H|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	383					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.Q383H(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGGGCTCACCTGAGCCCAGG	0.667																																							uc004ckw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1147-1149)CAG>CAC		ectonucleoside triphosphate diphosphohydrolase 2							27.0	32.0	31.0					9																	139944322		2201	4299	6500	SO:0001630	splice_region_variant	954					integral to membrane	ATP binding	g.chr9:139944322C>G	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1149+1G>C	9.37:g.139944322C>G						ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.Q383H	p.Q383H	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	7	1205	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	383			Extracellular (Potential).		O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.1149G>C	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865352	0.32977	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.13196	2.61;2.61	4.48	3.57	0.40892	.	0.730625	0.12975	N	0.423837	T	0.28067	0.0692	L	0.58810	1.83	0.32545	N	0.533199	B;P	0.52061	0.004;0.95	B;P	0.57960	0.004;0.83	T	0.25328	-1.0135	9	.	.	.	-26.3103	11.9764	0.53094	0.0:0.9139:0.0:0.0861	.	383;383	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	H	383	ENSP00000347213:Q383H;ENSP00000312494:Q383H	.	Q	-	3	2	ENTPD2	139064143	1.000000	0.71417	0.964000	0.40570	0.552000	0.35366	1.446000	0.35090	1.057000	0.40506	0.561000	0.74099	CAG		0.667	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468	Missense_Mutation	5	23	0	0	0	0.001168	0	5	23				
CACNA1B	774	broad.mit.edu	37	9	140952664	140952664	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:140952664G>A	ENST00000371372.1	+	28	4415	c.4270G>A	c.(4270-4272)Gac>Aac	p.D1424N	CACNA1B_ENST00000277551.2_Missense_Mutation_p.D1424N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D1425N|CACNA1B_ENST00000277549.5_Missense_Mutation_p.D620N|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D1424N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D1425N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1424					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.D1424N(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGCAGGGGGACAAGGTGAT	0.537																																							uc004cog.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(4270-4272)GAC>AAC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						238.0	230.0	232.0					9																	140952664		2149	4259	6408	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140952664G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4270G>A	9.37:g.140952664G>A	ENSP00000360423:p.Asp1424Asn					CACNA1B_uc011mfd.1_Missense_Mutation_p.D954N|CACNA1B_uc004coi.2_Missense_Mutation_p.D638N	p.D1424N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	28	4415	+	all_cancers(76;0.166)		1424			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4270G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490318	0.84962	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97209	-4.05;-4.05;-4.29;-4.05;-4.04;-4.04	5.07	5.07	0.68467	.	0.099149	0.64402	N	0.000002	D	0.98391	0.9465	M	0.88310	2.945	0.80722	D	1	P;D;D	0.58970	0.834;0.984;0.984	B;P;P	0.58013	0.176;0.831;0.831	D	0.99497	1.0952	10	0.87932	D	0	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	1424;1425;1424	B1AQK4;B1AQK7;B1AQK6	.;.;.	N	1424;1424;620;1424;1425;1425	ENSP00000360423:D1424N;ENSP00000277551:D1424N;ENSP00000277549:D620N;ENSP00000360414:D1424N;ENSP00000360408:D1425N;ENSP00000360406:D1425N	ENSP00000277549:D620N	D	+	1	0	CACNA1B	140072485	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.725000	0.98778	2.532000	0.85374	0.555000	0.69702	GAC		0.537	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		19	80	0	0	0	0.00278	0	19	80				
ARHGAP6	395	broad.mit.edu	37	X	11187695	11187695	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:11187695C>A	ENST00000337414.4	-	9	2611	c.1739G>T	c.(1738-1740)cGg>cTg	p.R580L	ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R612L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R580L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R405L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R377L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R377L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R389L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	580	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.R580L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCCTCAGCCCGGGCTGAACT	0.468																																							uc004cup.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(1738-1740)CGG>CTG		Rho GTPase activating protein 6 isoform 1							158.0	125.0	137.0					X																	11187695		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11187695C>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1739G>T	X.37:g.11187695C>A	ENSP00000338967:p.Arg580Leu					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.R580L|ARHGAP6_uc004cum.1_Missense_Mutation_p.R377L|ARHGAP6_uc004cun.1_Missense_Mutation_p.R400L|ARHGAP6_uc010neb.1_Missense_Mutation_p.R402L|ARHGAP6_uc011mif.1_Missense_Mutation_p.R377L	p.R580L	NM_013427	NP_038286	O43182	RHG06_HUMAN			9	2612	-			580			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1739G>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265749	0.80358	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.57	5.57	0.84162	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.47093	D	0.000251	T	0.53948	0.1828	L	0.31207	0.915	0.80722	D	1	D;P;D;P;D	0.89917	0.961;0.562;0.994;0.679;1.0	P;B;P;P;D	0.87578	0.598;0.224;0.875;0.521;0.998	T	0.49214	-0.8963	10	0.30854	T	0.27	.	18.631	0.91359	0.0:1.0:0.0:0.0	.	389;377;580;580;580	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	405;377;377;580;416;580;389;612	ENSP00000438135:R405L;ENSP00000370112:R377L;ENSP00000302312:R377L;ENSP00000338967:R580L;ENSP00000370093:R416L;ENSP00000370094:R580L;ENSP00000389394:R389L;ENSP00000370108:R612L	ENSP00000302312:R377L	R	-	2	0	ARHGAP6	11097616	1.000000	0.71417	0.448000	0.26945	0.940000	0.58332	7.332000	0.79203	2.344000	0.79699	0.544000	0.68410	CGG		0.468	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		19	51	1	0	4.63292e-17	0.008871	8.2869e-17	19	51				
AMELX	265	broad.mit.edu	37	X	11316746	11316746	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:11316746C>A	ENST00000380714.3	+	5	291	c.223C>A	c.(223-225)Ccg>Acg	p.P75T	AMELX_ENST00000380712.3_Missense_Mutation_p.P89T|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.P59T|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	75					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)	p.P89T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ACAGCACCCCCCGACTCACAC	0.602																																							uc004cut.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(223-225)CCG>ACG		amelogenin (X chromosome) isoform 1 precursor							137.0	119.0	125.0					X																	11316746		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316746C>A		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.223C>A	X.37:g.11316746C>A	ENSP00000370090:p.Pro75Thr					ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.P89T|AMELX_uc004cuu.2_Missense_Mutation_p.P59T	p.P75T	NM_001142	NP_001133	Q99217	AMELX_HUMAN			5	291	+			75					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.223C>A	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369143	0.42003	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88277	-2.36;-2.36;-2.36	5.0	3.83	0.44106	.	0.680797	0.13924	N	0.353342	D	0.88537	0.6463	M	0.72894	2.215	0.31700	N	0.640822	B;B;B	0.27013	0.137;0.166;0.137	B;B;B	0.32677	0.147;0.15;0.147	D	0.86505	0.1806	10	0.62326	D	0.03	1.2874	10.4295	0.44398	0.0:0.8746:0.0:0.1254	.	59;75;89	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	T	75;89;59	ENSP00000370090:P75T;ENSP00000370088:P89T;ENSP00000335312:P59T	ENSP00000335312:P59T	P	+	1	0	AMELX	11226667	0.891000	0.30450	0.981000	0.43875	0.995000	0.86356	1.012000	0.29924	0.632000	0.30432	0.415000	0.27848	CCG		0.602	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		23	51	1	0	3.62473e-10	0.001882	5.73653e-10	23	51				
GLRA2	2742	broad.mit.edu	37	X	14627266	14627266	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:14627266G>T	ENST00000218075.4	+	7	1399	c.869G>T	c.(868-870)gGc>gTc	p.G290V	GLRA2_ENST00000443437.2_Missense_Mutation_p.G201V|GLRA2_ENST00000355020.4_Missense_Mutation_p.G290V	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	290					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.G290V(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	GTCGCACTGGGCATCACCACA	0.463																																							uc010nep.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(868-870)GGC>GTC		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						84.0	83.0	83.0					X																	14627266		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14627266G>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.869G>T	X.37:g.14627266G>T	ENSP00000218075:p.Gly290Val					GLRA2_uc010neq.2_Missense_Mutation_p.G290V|GLRA2_uc004cwe.3_Missense_Mutation_p.G290V|GLRA2_uc011mio.1_Missense_Mutation_p.G201V|GLRA2_uc011mip.1_Missense_Mutation_p.G268V	p.G290V	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			8	1201	+	Hepatocellular(33;0.128)		290			Helical; (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.869G>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720440	0.89205	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.89196	-2.48;-2.48;-2.48	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96266	0.8782	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.97110	1.0;0.999;0.969	D	0.97431	1.0015	10	0.87932	D	0	.	18.3146	0.90215	0.0:0.0:1.0:0.0	.	274;290;290	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	V	201;290;290	ENSP00000387756:G201V;ENSP00000218075:G290V;ENSP00000347123:G290V	ENSP00000218075:G290V	G	+	2	0	GLRA2	14537187	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.771000	0.98977	2.264000	0.75181	0.600000	0.82982	GGC		0.463	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			15	74	1	0	1.37285e-15	0.004007	2.41702e-15	15	74				
GRPR	2925	broad.mit.edu	37	X	16168633	16168633	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:16168633C>A	ENST00000380289.2	+	2	1017	c.619C>A	c.(619-621)Ccc>Acc	p.P207T	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	207					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.P207T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGAGCTTCACCCCAAAATCCA	0.463																																							uc004cxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(619-621)CCC>ACC		gastrin-releasing peptide receptor							239.0	174.0	196.0					X																	16168633		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168633C>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.619C>A	X.37:g.16168633C>A	ENSP00000369643:p.Pro207Thr						p.P207T	NM_005314	NP_005305	P30550	GRPR_HUMAN			2	1272	+	Hepatocellular(33;0.183)		207			Extracellular (Potential).		B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.619C>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425405	0.83667	.	.	ENSG00000126010	ENST00000380289	T	0.36699	1.24	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	L	0.59436	1.845	0.80722	D	1	P	0.51240	0.943	P	0.57548	0.823	T	0.36890	-0.9729	10	0.16420	T	0.52	-27.8884	17.1282	0.86720	0.0:1.0:0.0:0.0	.	207	P30550	GRPR_HUMAN	T	207	ENSP00000369643:P207T	ENSP00000369643:P207T	P	+	1	0	GRPR	16078554	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.487000	0.81328	2.254000	0.74563	0.600000	0.82982	CCC		0.463	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		16	76	1	0	3.45872e-05	0.004007	4.35254e-05	16	76				
BEND2	139105	broad.mit.edu	37	X	18192213	18192213	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:18192213C>G	ENST00000380033.4	-	12	2050	c.1918G>C	c.(1918-1920)Gct>Cct	p.A640P	BEND2_ENST00000380030.3_Missense_Mutation_p.A549P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	640								p.A640P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCAGGGATAGCATTACTGTTT	0.408																																							uc004cyj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1918-1920)GCT>CCT		BEN domain containing 2							137.0	103.0	114.0					X																	18192213		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18192213C>G	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1918G>C	X.37:g.18192213C>G	ENSP00000369372:p.Ala640Pro					BEND2_uc010nfb.2_Missense_Mutation_p.A549P	p.A640P	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			12	2072	-			640					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1918G>C	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	8.454	0.853719	0.17106	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.26518	1.73;1.76	4.42	1.34	0.21922	.	1.145300	0.06538	N	0.742679	T	0.17789	0.0427	N	0.24115	0.695	0.09310	N	1	P;P	0.42039	0.769;0.769	B;B	0.39840	0.23;0.311	T	0.20240	-1.0281	10	0.45353	T	0.12	-2.4008	5.9851	0.19430	0.3425:0.553:0.0:0.1046	.	549;640	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	P	640;549	ENSP00000369372:A640P;ENSP00000369369:A549P	ENSP00000369369:A549P	A	-	1	0	BEND2	18102134	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.058000	0.14301	0.038000	0.15604	-2.835000	0.00106	GCT		0.408	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		5	40	0	0	0	0.000602	0	5	40				
KLHL34	257240	broad.mit.edu	37	X	21674824	21674824	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:21674824C>A	ENST00000379499.2	-	1	1624	c.1083G>T	c.(1081-1083)gtG>gtT	p.V361V		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	361						extracellular space (GO:0005615)		p.V361V(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCGCGGTGCACACGCTGTGCC	0.652																																							uc004czz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1081-1083)GTG>GTT		kelch-like 34							42.0	21.0	28.0					X																	21674824		2198	4294	6492	SO:0001819	synonymous_variant	257240							g.chrX:21674824C>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1083G>T	X.37:g.21674824C>A							p.V361V	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1625	-			361			Kelch 1.			Silent	SNP	ENST00000379499.2	37	c.1083G>T	CCDS14199.1																																																																																				0.652	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		4	17	1	0	1.23904e-05	0.000602	1.57558e-05	4	17				
PTCHD1	139411	broad.mit.edu	37	X	23412035	23412035	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:23412035G>A	ENST00000379361.4	+	3	3260	c.2400G>A	c.(2398-2400)caG>caA	p.Q800Q		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	800					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.Q695Q(1)|p.Q800Q(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTATTTTACAGAGTTACCTCT	0.408																																							uc004dal.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(2398-2400)CAG>CAA		patched domain containing 1							173.0	141.0	152.0					X																	23412035		2203	4300	6503	SO:0001819	synonymous_variant	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23412035G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2400G>A	X.37:g.23412035G>A							p.Q800Q	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	2408	+			800			Helical; (Potential).		B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	c.2400G>A	CCDS35215.2																																																																																				0.408	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		10	50	0	0	0	0.006214	0	10	50				
SUPT20HL2	170067	broad.mit.edu	37	X	24330701	24330701	+	IGR	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:24330701C>A								AC096509.1 (25907 upstream) : AC004552.1 (36224 downstream)														p.W354C(1)									TTACAGAGGGCCACGAATACC	0.512																																							uc011mjw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(730-732)TGG>TGT		family with sequence similarity 48, member B2							119.0	102.0	107.0					X																	24330701		1568	3582	5150	SO:0001628	intergenic_variant	170067							g.chrX:24330701C>A																													X.37:g.24330701C>A							p.W244C	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	732	-			244						Missense_Mutation	SNP		37	c.732G>T																																																																																				0	0.512									14	58	1	0	4.75885e-15	0.00499	8.29806e-15	14	58				
DCAF8L2	347442	broad.mit.edu	37	X	27766004	27766004	+	Missense_Mutation	SNP	C	C	T	rs372484466		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:27766004C>T	ENST00000451261.2	+	5	1391	c.992C>T	c.(991-993)cCt>cTt	p.P331L		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	331								p.P298L(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCTGACTCTCCTTATAAGTTC	0.463																																							uc011mjy.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(991-993)CCT>CTT		DDB1 and CUL4 associated factor 8-like 2							72.0	51.0	58.0					X																	27766004		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766004C>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.992C>T	X.37:g.27766004C>T	ENSP00000462745:p.Pro331Leu						p.P331L	NM_001136533	NP_001130005					1	1079	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.992C>T	CCDS59162.1																																																																																				0.463	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		6	14	0	0	0	0.001168	0	6	14				
MAGEB16	139604	broad.mit.edu	37	X	35821107	35821107	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:35821107T>A	ENST00000399989.1	+	2	1073	c.794T>A	c.(793-795)gTg>gAg	p.V265E	MAGEB16_ENST00000399988.1_Missense_Mutation_p.V265E|MAGEB16_ENST00000399992.1_Missense_Mutation_p.V297E|MAGEB16_ENST00000399985.1_Missense_Mutation_p.V265E|MAGEB16_ENST00000399987.1_Missense_Mutation_p.V265E	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	265	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V432E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TACCAGCAGGTGGCCAACAGT	0.483																																							uc010ngt.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(793-795)GTG>GAG		melanoma antigen family B, 16							38.0	38.0	38.0					X																	35821107		2197	4298	6495	SO:0001583	missense	139604							g.chrX:35821107T>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.794T>A	X.37:g.35821107T>A	ENSP00000382871:p.Val265Glu						p.V265E	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	1073	+			265			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.794T>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250176	0.39797	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	3.06	1.83	0.25207	.	0.520197	0.20308	N	0.094881	T	0.22781	0.0550	M	0.87971	2.92	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.03566	-1.1024	10	0.66056	D	0.02	.	5.5671	0.17177	0.0:0.0:0.2837:0.7163	.	265	A2A368	MAGBG_HUMAN	E	265;297;265;265;265	ENSP00000382870:V265E;ENSP00000382874:V297E;ENSP00000382869:V265E;ENSP00000382871:V265E;ENSP00000382867:V265E	ENSP00000382867:V265E	V	+	2	0	MAGEB16	35731028	0.268000	0.24133	0.008000	0.14137	0.908000	0.53690	3.325000	0.52030	0.413000	0.25759	0.384000	0.25694	GTG		0.483	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			4	19	0	0	0	0.009096	0	4	19				
USP9X	8239	broad.mit.edu	37	X	41000658	41000658	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:41000658G>C	ENST00000324545.8	+	9	1768	c.1135G>C	c.(1135-1137)Gag>Cag	p.E379Q	USP9X_ENST00000378308.2_Missense_Mutation_p.E379Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	379					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.E372Q(1)|p.E379Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGAGGAGGAAGAGTGGCTCAC	0.363																																					Ovarian(172;1807 2695 35459 49286)	Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.(1135-1137)GAG>CAG		ubiquitin specific protease 9, X-linked isoform							85.0	79.0	81.0					X																	41000658		2150	4279	6429	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000658G>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1135G>C	X.37:g.41000658G>C	ENSP00000316357:p.Glu379Gln					USP9X_uc004dfc.2_Missense_Mutation_p.E379Q	p.E379Q	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			9	1768	+			379					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.1135G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329948	0.81690	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.77358	-1.09;-1.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.974	D	0.86269	0.1660	10	0.33940	T	0.23	.	18.5989	0.91240	0.0:0.0:1.0:0.0	.	379;379	Q93008-1;Q93008	.;USP9X_HUMAN	Q	379	ENSP00000367558:E379Q;ENSP00000316357:E379Q	ENSP00000316357:E379Q	E	+	1	0	USP9X	40885602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.335000	0.79485	0.544000	0.68410	GAG		0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		6	31	0	0	0	0.001168	0	6	31				
UBA1	7317	broad.mit.edu	37	X	47062972	47062972	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:47062972C>G	ENST00000335972.6	+	14	1635	c.1452C>G	c.(1450-1452)ctC>ctG	p.L484L	UBA1_ENST00000490869.1_3'UTR|UBA1_ENST00000377351.4_Silent_p.L484L|INE1_ENST00000456273.1_RNA	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	484	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.L484L(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTGAGCTGCTCAAGAACTTTG	0.527																																							uc004dhj.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1450-1452)CTC>CTG		ubiquitin-activating enzyme E1							102.0	83.0	89.0					X																	47062972		2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47062972C>G	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1452C>G	X.37:g.47062972C>G						UBA1_uc004dhk.3_Silent_p.L484L|INE1_uc004dhl.2_5'Flank	p.L484L	NM_153280	NP_695012	P22314	UBA1_HUMAN			14	1603	+			484			1-2.|ATP (By similarity).|2 approximate repeats.		Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.1452C>G	CCDS14275.1																																																																																				0.527	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		10	36	0	0	0	0.000978	0	10	36				
OTUD5	55593	broad.mit.edu	37	X	48783166	48783166	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:48783166C>A	ENST00000156084.4	-	6	1295	c.1235G>T	c.(1234-1236)cGg>cTg	p.R412L	OTUD5_ENST00000376488.3_Missense_Mutation_p.R407L|OTUD5_ENST00000484499.1_5'Flank|OTUD5_ENST00000428668.2_Missense_Mutation_p.R190L|OTUD5_ENST00000396743.3_Missense_Mutation_p.R407L	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	412					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)	p.R383L(1)|p.R412L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CTCCTGATCCCGCAACCACTG	0.567																																							uc004dlu.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1234-1236)CGG>CTG		OTU domain containing 5 isoform a							81.0	61.0	68.0					X																	48783166		2202	4300	6502	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48783166C>A		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1235G>T	X.37:g.48783166C>A	ENSP00000156084:p.Arg412Leu					OTUD5_uc004dlt.3_Missense_Mutation_p.R407L|OTUD5_uc004dlv.2_Missense_Mutation_p.R407L|OTUD5_uc011mmp.1_Missense_Mutation_p.R190L	p.R412L	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN			6	1296	-			412					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.1235G>T	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743186	0.89663	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	D;T;D;D;T	0.84516	-1.86;0.95;-1.86;-1.86;0.95	5.17	5.17	0.71159	.	0.184842	0.38005	N	0.001857	D	0.89584	0.6757	L	0.57536	1.79	0.47949	D	0.99955	P;P;D	0.60160	0.8;0.881;0.987	B;P;P	0.61722	0.345;0.524;0.893	D	0.90431	0.4424	10	0.72032	D	0.01	-13.3359	15.1666	0.72833	0.0:1.0:0.0:0.0	.	190;412;407	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	L	407;383;285;412;407;190	ENSP00000379969:R407L;ENSP00000390767:R285L;ENSP00000156084:R412L;ENSP00000365671:R407L;ENSP00000401629:R190L	ENSP00000156084:R412L	R	-	2	0	OTUD5	48668110	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	2.358000	0.44134	2.495000	0.84180	0.544000	0.68410	CGG		0.567	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		4	14	1	0	0.00024832	0.009096	0.000292993	4	14				
KCND1	3750	broad.mit.edu	37	X	48820029	48820029	+	Missense_Mutation	SNP	T	T	A	rs201201437		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:48820029T>A	ENST00000218176.3	-	6	3054	c.1757A>T	c.(1756-1758)gAc>gTc	p.D586V	KCND1_ENST00000376477.1_Missense_Mutation_p.D209V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	586					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.D586V(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GCAGTTCAGGTCAAGGCTGTC	0.592													t|||	1	0.000264901	0.0008	0.0	3775	,	,		12810	0.0		0.0	False		,,,				2504	0.0						uc004dlx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1756-1758)GAC>GTC		potassium voltage-gated channel, Shal-related							41.0	38.0	39.0					X																	48820029		2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48820029T>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1757A>T	X.37:g.48820029T>A	ENSP00000218176:p.Asp586Val					KCND1_uc004dlw.1_Missense_Mutation_p.D209V	p.D586V	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			6	3330	-			586			Cytoplasmic (Potential).		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1757A>T	CCDS14314.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	t	12.72	2.022791	0.35701	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.96073	-3.39;-3.9	4.93	3.7	0.42460	.	0.194181	0.41500	D	0.000878	D	0.88295	0.6398	N	0.08118	0	0.46678	D	0.999158	B	0.06786	0.001	B	0.04013	0.001	D	0.84970	0.0882	10	0.59425	D	0.04	.	11.1949	0.48707	0.0:0.0:0.1641:0.8359	.	586	Q9NSA2	KCND1_HUMAN	V	209;586	ENSP00000365660:D209V;ENSP00000218176:D586V	ENSP00000218176:D586V	D	-	2	0	KCND1	48704973	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.361000	0.52306	1.618000	0.50286	0.310000	0.20435	GAC		0.592	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		6	12	0	0	0	0.001168	0	6	12				
TSR2	90121	broad.mit.edu	37	X	54467179	54467179	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:54467179G>C	ENST00000375151.4	+	2	159	c.138G>C	c.(136-138)ctG>ctC	p.L46L		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	46					rRNA processing (GO:0006364)			p.L46L(1)		breast(1)|endometrium(3)|lung(2)	6						CCAAGTGGCTGGGGGGTGCAG	0.617																																							uc004dte.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)CTG>CTC		TSR2, 20S rRNA accumulation, homolog							50.0	47.0	48.0					X																	54467179		2203	4300	6503	SO:0001819	synonymous_variant	90121				rRNA processing		protein binding	g.chrX:54467179G>C	BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"""WGG motif containing 1"""					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.138G>C	X.37:g.54467179G>C						TSR2_uc004dtf.2_Intron	p.L46L	NM_058163	NP_477511	Q969E8	TSR2_HUMAN			2	140	+			46						Silent	SNP	ENST00000375151.4	37	c.138G>C	CCDS14358.1																																																																																				0.617	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056802.1	NM_058163		5	18	0	0	0	0.000602	0	5	18				
ITIH6	347365	broad.mit.edu	37	X	54783923	54783923	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:54783923G>A	ENST00000218436.6	-	8	2613	c.2584C>T	c.(2584-2586)Cca>Tca	p.P862S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	862	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P862S(1)									ATTTGGTGTGGTGGGGCACTC	0.517																																							uc004dtj.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2584-2586)CCA>TCA		inter-alpha (globulin) inhibitor H5-like							70.0	64.0	66.0					X																	54783923		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783923G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2584C>T	X.37:g.54783923G>A	ENSP00000218436:p.Pro862Ser						p.P862S	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2614	-			862			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2584C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	6.885	0.532741	0.13127	.	.	ENSG00000102313	ENST00000218436	T	0.01998	4.51	3.58	1.69	0.24217	.	2.291790	0.03998	N	0.296060	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.12156	0.007	T	0.45862	-0.9232	10	0.24483	T	0.36	.	7.6486	0.28336	0.2551:0.0:0.7449:0.0	.	862	Q6UXX5	ITH5L_HUMAN	S	862	ENSP00000218436:P862S	ENSP00000218436:P862S	P	-	1	0	ITIH5L	54800648	0.986000	0.35501	0.167000	0.22817	0.083000	0.17756	0.594000	0.24014	0.474000	0.27392	0.466000	0.42574	CCA		0.517	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		5	23	0	0	0	0.000602	0	5	23				
KIAA2022	340533	broad.mit.edu	37	X	73963350	73963350	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:73963350G>T	ENST00000055682.6	-	3	1653	c.1042C>A	c.(1042-1044)Cga>Aga	p.R348R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	348					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R348R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTAGACTCTCGCTTGGGGCAG	0.468																																							uc004eby.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1042-1044)CGA>AGA		hypothetical protein LOC340533							57.0	51.0	53.0					X																	73963350		2202	4300	6502	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963350G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1042C>A	X.37:g.73963350G>T							p.R348R	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1659	-			348					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.1042C>A	CCDS35337.1																																																																																				0.468	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		14	61	1	0	0.00185496	0.001855	0.00205542	14	61				
CYLC1	1538	broad.mit.edu	37	X	83128556	83128556	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:83128556T>A	ENST00000329312.4	+	4	877	c.840T>A	c.(838-840)taT>taA	p.Y280*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	280					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Y280*(1)|p.Y279*(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTTTGAAGTATACAAAGTATA	0.323																																							uc004eei.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(1)	5						c.(838-840)TAT>TAA		cylicin, basic protein of sperm head							26.0	27.0	27.0					X																	83128556		2186	4270	6456	SO:0001587	stop_gained	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128556T>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.840T>A	X.37:g.83128556T>A	ENSP00000331556:p.Tyr280*					CYLC1_uc004eeh.1_Nonsense_Mutation_p.Y279*	p.Y280*	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	861	+			280			1.		A0AVQ8|Q5JQQ9	Nonsense_Mutation	SNP	ENST00000329312.4	37	c.840T>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	15.29	2.789381	0.49997	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	.	.	.	.	.	.	.	X	280	.	ENSP00000331556:Y280X	Y	+	3	2	CYLC1	83015212	0.980000	0.34600	0.561000	0.28357	0.316000	0.28119	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	TAT		0.323	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		7	18	0	0	0	0.001984	0	7	18				
PABPC5	140886	broad.mit.edu	37	X	90691715	90691715	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:90691715G>C	ENST00000312600.3	+	2	1353	c.1139G>C	c.(1138-1140)cGc>cCc	p.R380P	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.R216P	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	380						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R380P(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAGGCCAGGCGCAGGTGCTGA	0.498																																							uc004efg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(1138-1140)CGC>CCC		poly(A) binding protein, cytoplasmic 5							18.0	17.0	17.0					X																	90691715		2198	4296	6494	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691715G>C	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1139G>C	X.37:g.90691715G>C	ENSP00000308012:p.Arg380Pro					PABPC5_uc004eff.1_Missense_Mutation_p.R216P	p.R380P	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	1579	+			380					A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.1139G>C	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	8.537	0.872346	0.17322	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	2.0;1.94	3.98	0.13	0.14746	.	0.000000	0.56097	U	0.000026	T	0.07683	0.0193	N	0.03154	-0.405	0.25074	N	0.990978	B	0.19706	0.038	B	0.09377	0.004	T	0.23084	-1.0198	10	0.87932	D	0	.	6.1751	0.20439	0.5209:0.0:0.4791:0.0	.	380	Q96DU9	PABP5_HUMAN	P	216;380;348	ENSP00000362197:R216P;ENSP00000308012:R380P	ENSP00000308012:R380P	R	+	2	0	PABPC5	90578371	1.000000	0.71417	0.957000	0.39632	0.935000	0.57460	1.822000	0.39052	-0.109000	0.12044	0.544000	0.68410	CGC		0.498	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		5	12	0	0	0	0.001168	0	5	12				
GLRA4	441509	broad.mit.edu	37	X	102974075	102974075	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:102974075C>A	ENST00000372617.4	-	7	1263	c.843G>T	c.(841-843)atG>atT	p.M281I	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	281						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.M281I(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGGCAGCATCCATGTTGATCC	0.577																																							uc011mse.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(841-843)ATG>ATT		glycine receptor, alpha 4 precursor							130.0	132.0	131.0					X																	102974075		2203	4299	6502	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102974075C>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.843G>T	X.37:g.102974075C>A	ENSP00000361700:p.Met281Ile					GLRA4_uc010nou.2_Missense_Mutation_p.M281I	p.M281I	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			7	1264	-			281			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.843G>T	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198301	0.58126	.	.	ENSG00000188828	ENST00000372617	D	0.85339	-1.97	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.036945	0.85682	D	0.000000	T	0.79885	0.4523	L	0.28504	0.86	0.58432	D	0.999999	B;B	0.15930	0.015;0.003	B;B	0.17098	0.017;0.012	T	0.74928	-0.3497	10	0.56958	D	0.05	.	16.6119	0.84885	0.0:1.0:0.0:0.0	.	281;240	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	I	281	ENSP00000361700:M281I	ENSP00000361700:M281I	M	-	3	0	GLRA4	102860731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.618000	0.88619	0.600000	0.82982	ATG		0.577	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		21	81	1	0	0.000132079	0.008871	0.0001588	21	81				
AMOT	154796	broad.mit.edu	37	X	112058742	112058742	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:112058742C>A	ENST00000524145.1	-	3	1310	c.1236G>T	c.(1234-1236)cgG>cgT	p.R412R	AMOT_ENST00000304758.1_Silent_p.R3R|AMOT_ENST00000371959.3_Silent_p.R412R|AMOT_ENST00000371958.1_Silent_p.R180R|AMOT_ENST00000371962.1_Silent_p.R180R			Q4VCS5	AMOT_HUMAN	angiomotin	412					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.R412R(1)|p.R3R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATGGCTGAGCCCGAGGCATAG	0.557																																							uc004epr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1234-1236)CGG>CGT		angiomotin isoform 1							96.0	84.0	88.0					X																	112058742		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058742C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1236G>T	X.37:g.112058742C>A						AMOT_uc004eps.2_Silent_p.R3R|AMOT_uc004ept.1_Silent_p.R412R	p.R412R	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			2	1236	-			412					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1236G>T	CCDS48154.1																																																																																				0.557	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		12	44	1	0	9.31168e-06	0.001855	1.20836e-05	12	44				
KLHL13	90293	broad.mit.edu	37	X	117043381	117043381	+	Nonsense_Mutation	SNP	G	G	A	rs368254851		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:117043381G>A	ENST00000262820.3	-	5	2158	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	KLHL13_ENST00000540167.1_Nonsense_Mutation_p.R401*|KLHL13_ENST00000541812.1_Nonsense_Mutation_p.R401*|KLHL13_ENST00000371876.1_Nonsense_Mutation_p.R366*|KLHL13_ENST00000371878.1_Nonsense_Mutation_p.R366*|KLHL13_ENST00000371882.1_Nonsense_Mutation_p.R366*|KLHL13_ENST00000545703.1_Nonsense_Mutation_p.R375*|KLHL13_ENST00000539496.1_Nonsense_Mutation_p.R420*|KLHL13_ENST00000469946.1_Nonsense_Mutation_p.R366*	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	417					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.R417*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTATTGTATCGAGGATCAAAT	0.413																																							uc004eql.2		NA																	1	Substitution - Nonsense(1)		lung(1)	kidney(1)|skin(1)	2						c.(1249-1251)CGA>TGA		kelch-like 13		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,3835		0,0,0,1632,571	88.0	74.0	79.0		1258,1231,1201,1201,1123,1249	5.0	1.0	X		79	1,6727		0,0,1,2428,1871	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	KLHL13	NM_001168299.1,NM_001168300.1,NM_001168301.1,NM_001168302.1,NM_001168303.1,NM_033495.3	,,,,,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,,,,,	420/659,411/650,401/640,401/640,375/614,417/656	117043381	1,10562	2203	4300	6503	SO:0001587	stop_gained	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043381G>A	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1249C>T	X.37:g.117043381G>A	ENSP00000262820:p.Arg417*					KLHL13_uc004eqk.2_Nonsense_Mutation_p.R366*|KLHL13_uc011mtn.1_Nonsense_Mutation_p.R257*|KLHL13_uc011mto.1_Nonsense_Mutation_p.R411*|KLHL13_uc011mtp.1_Nonsense_Mutation_p.R419*|KLHL13_uc004eqm.2_Nonsense_Mutation_p.R366*|KLHL13_uc011mtq.1_Nonsense_Mutation_p.R401*	p.R417*	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN			5	1311	-			417			Kelch 2.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Nonsense_Mutation	SNP	ENST00000262820.3	37	c.1249C>T	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	41	8.938291	0.99010	0.0	1.49E-4	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	17.4247	0.87524	0.0:0.0:1.0:0.0	.	.	.	.	X	366;366;366;366;401;401;420;417;375;366	.	ENSP00000262820:R417X	R	-	1	2	KLHL13	116927409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	2.297000	0.77311	0.594000	0.82650	CGA		0.413	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		16	51	0	0	0	0.00499	0	16	51				
ZCCHC12	170261	broad.mit.edu	37	X	117960378	117960378	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:117960378G>T	ENST00000310164.2	+	4	1678	c.1171G>T	c.(1171-1173)Gcc>Tcc	p.A391S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	391					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A391S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GTCAAGAGTGGCCCCTGGCGA	0.493																																							uc004equ.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1171-1173)GCC>TCC		zinc finger, CCHC domain containing 12							71.0	68.0	69.0					X																	117960378		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960378G>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1171G>T	X.37:g.117960378G>T	ENSP00000308921:p.Ala391Ser						p.A391S	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1644	+			391					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.1171G>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	1.696	-0.502717	0.04261	.	.	ENSG00000174460	ENST00000310164	T	0.32988	1.43	3.11	1.2	0.21068	.	.	.	.	.	T	0.25938	0.0632	M	0.63428	1.95	0.09310	N	1	B	0.30281	0.275	B	0.28305	0.088	T	0.25152	-1.0140	9	0.45353	T	0.12	2.9493	3.3674	0.07208	0.1466:0.0:0.6042:0.2492	.	391	Q6PEW1	ZCH12_HUMAN	S	391	ENSP00000308921:A391S	ENSP00000308921:A391S	A	+	1	0	ZCCHC12	117844406	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.950000	0.29122	0.167000	0.19631	0.513000	0.50165	GCC		0.493	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		6	37	1	0	5.9392e-07	0.001168	8.25141e-07	6	37				
CT47B1	643311	broad.mit.edu	37	X	120009270	120009270	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:120009270T>A	ENST00000371311.3	-	1	509	c.255A>T	c.(253-255)tcA>tcT	p.S85S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	85								p.S85S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCCGATATCTGAGTCCTCCT	0.726																																							uc011muc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)TCA>TCT		cancer/testis antigen family 147, member B1							23.0	29.0	27.0					X																	120009270		692	1590	2282	SO:0001819	synonymous_variant	643311							g.chrX:120009270T>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.255A>T	X.37:g.120009270T>A							p.S85S	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	510	-			85					A6NM97	Silent	SNP	ENST00000371311.3	37	c.255A>T	CCDS48161.1																																																																																				0.726	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		7	19	0	0	0	0.00308	0	7	19				
GRIA3	2892	broad.mit.edu	37	X	122460066	122460066	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:122460066T>A	ENST00000371251.1	+	4	748		c.e4+2		GRIA3_ENST00000264357.5_Splice_Site|GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000371256.5_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.?(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTGGAACAGGTACGTTTGAGA	0.398																																							uc004etq.3		NA																	3	Unknown(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.e5+2		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						92.0	80.0	84.0					X																	122460066		2203	4300	6503	SO:0001630	splice_region_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122460066T>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.696+2T>A	X.37:g.122460066T>A						GRIA3_uc004etr.3_Splice_Site_p.Q232_splice|GRIA3_uc004ets.3_Splice_Site|GRIA3_uc011muf.1_Splice_Site_p.Q216_splice	p.Q232_splice	NM_007325	NP_015564	P42263	GRIA3_HUMAN			5	989	+								D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Splice_Site	SNP	ENST00000371251.1	37	c.696_splice	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303840	0.81136	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9644	0.64200	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA3	122287747	1.000000	0.71417	0.964000	0.40570	0.862000	0.49288	7.673000	0.83973	1.895000	0.54865	0.486000	0.48141	.		0.398	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	Intron	5	37	0	0	0	0.001168	0	5	37				
USP26	83844	broad.mit.edu	37	X	132160979	132160979	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:132160979C>A	ENST00000511190.1	-	6	1739	c.1270G>T	c.(1270-1272)Gat>Tat	p.D424Y	USP26_ENST00000406273.1_Missense_Mutation_p.D424Y|USP26_ENST00000370832.1_Missense_Mutation_p.D424Y	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	424	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.D424Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTGTCAGGATCATCAGCAAAA	0.368																																					NSCLC(104;342 1621 36940 47097 52632)	NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(1270-1272)GAT>TAT		ubiquitin-specific protease 26							85.0	80.0	81.0					X																	132160979		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160979C>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1270G>T	X.37:g.132160979C>A	ENSP00000423390:p.Asp424Tyr					USP26_uc011mvf.1_Missense_Mutation_p.D424Y	p.D424Y	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	1740	-	Acute lymphoblastic leukemia(192;0.000127)		424					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1270G>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	c	0.743	-0.775649	0.02951	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.30714	1.52;1.52;1.52	3.62	-3.67	0.04476	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.585370	0.04145	N	0.320259	T	0.31071	0.0785	N	0.25380	0.74	0.09310	N	1	P	0.47762	0.9	P	0.55055	0.767	T	0.29027	-1.0025	10	0.59425	D	0.04	-0.7864	4.0852	0.09943	0.2998:0.4106:0.0:0.2896	.	424	Q9BXU7	UBP26_HUMAN	Y	424	ENSP00000359869:D424Y;ENSP00000423390:D424Y;ENSP00000384360:D424Y	ENSP00000359869:D424Y	D	-	1	0	USP26	131988645	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.026000	0.13599	-0.939000	0.03709	-0.312000	0.09012	GAT		0.368	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		17	87	1	0	1.15088e-07	0.004007	1.64282e-07	17	87				
SAGE1	55511	broad.mit.edu	37	X	134987498	134987498	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:134987498A>C	ENST00000370709.3	+	4	401	c.401A>C	c.(400-402)cAg>cCg	p.Q134P	SAGE1_ENST00000324447.3_Missense_Mutation_p.Q134P|SAGE1_ENST00000537770.1_Missense_Mutation_p.Q134P|SAGE1_ENST00000535938.1_Missense_Mutation_p.Q134P			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	134						nucleus (GO:0005634)		p.Q134P(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCTCCACCACAGCTTGTTCAT	0.453																																							uc004ezh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(400-402)CAG>CCG		sarcoma antigen 1							199.0	132.0	155.0					X																	134987498		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134987498A>C	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.401A>C	X.37:g.134987498A>C	ENSP00000359743:p.Gln134Pro					SAGE1_uc010nry.1_Missense_Mutation_p.Q103P|SAGE1_uc011mvv.1_Missense_Mutation_p.Q134P	p.Q134P	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			5	568	+	Acute lymphoblastic leukemia(192;0.000127)		134					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.401A>C	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	A	1.531	-0.544377	0.04024	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.33438	1.41;1.41;1.45;1.41	1.1	-2.19	0.07015	.	0.261386	0.31392	U	0.007736	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B;B	0.28667	0.219;0.0	B;B	0.36464	0.225;0.0	T	0.20438	-1.0275	10	0.30078	T	0.28	.	4.8048	0.13314	0.7327:0.0:0.2673:0.0	.	134;134	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	P	134	ENSP00000323191:Q134P;ENSP00000445959:Q134P;ENSP00000438276:Q134P;ENSP00000359743:Q134P	ENSP00000323191:Q134P	Q	+	2	0	SAGE1	134815164	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.015000	0.12634	-0.970000	0.03569	-0.841000	0.03054	CAG		0.453	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		10	57	0	0	0	0.001855	0	10	57				
GPR112	139378	broad.mit.edu	37	X	135429356	135429357	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:135429356_135429357CT>AA	ENST00000394143.1	+	6	3782_3783	c.3491_3492CT>AA	c.(3490-3492)aCT>aAA	p.T1164K	GPR112_ENST00000412101.1_Missense_Mutation_p.T959K|GPR112_ENST00000370652.1_Missense_Mutation_p.T1164K|GPR112_ENST00000287534.4_Missense_Mutation_p.T1101K|GPR112_ENST00000394141.1_Missense_Mutation_p.T959K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1164					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T1164K(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGATCTCAACTACGTCTACAC	0.47																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3490-3492)ACT>AAA		G-protein coupled receptor 112																																				SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429356_135429357CT>AA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	Exception_encountered	X.37:g.135429356_135429357delinsAA	ENSP00000377699:p.Thr1164Lys					GPR112_uc010nsb.1_Missense_Mutation_p.T959K|GPR112_uc010nsc.1_Missense_Mutation_p.T931K	p.T1164K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3782_3783	+	Acute lymphoblastic leukemia(192;0.000127)		1164			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	DNP	ENST00000394143.1	37	c.3491_3492CT>AA	CCDS35409.1																																																																																				0.470	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			26	91	0	0	0	0.004672	0	26	91				
ZIC3	7547	broad.mit.edu	37	X	136649858	136649858	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:136649858G>C	ENST00000287538.5	+	1	1558	c.1008G>C	c.(1006-1008)ggG>ggC	p.G336G	ZIC3_ENST00000370606.3_Silent_p.G336G	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	336	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G336G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGGGCTGCGGGAAGATCTTTG	0.592																																							uc004fak.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1006-1008)GGG>GGC		zinc finger protein of the cerebellum 3							64.0	70.0	68.0					X																	136649858		2202	4299	6501	SO:0001819	synonymous_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649858G>C	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1008G>C	X.37:g.136649858G>C							p.G336G	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1513	+	Acute lymphoblastic leukemia(192;0.000127)		336			C2H2-type 3.|Nuclear localization signal.		B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	c.1008G>C	CCDS14663.1																																																																																				0.592	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			25	78	0	0	0	0.007291	0	25	78				
F9	2158	broad.mit.edu	37	X	138612957	138612957	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:138612957C>A	ENST00000218099.2	+	1	41	c.34C>A	c.(34-36)Cca>Aca	p.P12T	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Missense_Mutation_p.P12T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	12					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GGCAGAATCACCAGGCCTCAT	0.413																																							uc004fas.1		NA																	0				lung(2)|ovary(1)	3						c.(34-36)CCA>ACA		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						283.0	228.0	246.0					X																	138612957		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138612957C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.34C>A	X.37:g.138612957C>A	ENSP00000218099:p.Pro12Thr					F9_uc004fat.1_Missense_Mutation_p.P12T	p.P12T	NM_000133	NP_000124	P00740	FA9_HUMAN			1	63	+	Acute lymphoblastic leukemia(192;0.000127)		12					A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.34C>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	c	10.22	1.289866	0.23478	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.91180	-2.79;-2.8	5.08	2.33	0.28932	.	1.147010	0.06279	N	0.697125	D	0.87002	0.6069	L	0.55481	1.735	0.09310	N	1	B;B	0.24823	0.112;0.097	B;B	0.25140	0.058;0.035	T	0.69939	-0.5009	10	0.22109	T	0.4	.	6.0365	0.19710	0.0:0.6679:0.0:0.3321	.	12;12	Q5FBE1;P00740	.;FA9_HUMAN	T	12	ENSP00000218099:P12T;ENSP00000377650:P12T	ENSP00000218099:P12T	P	+	1	0	F9	138440623	0.000000	0.05858	0.038000	0.18304	0.997000	0.91878	0.208000	0.17415	0.384000	0.24942	0.591000	0.81541	CCA		0.413	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			7	57	1	0	0.000274275	0.004482	0.000319476	7	57				
MAGEC2	51438	broad.mit.edu	37	X	141291417	141291417	+	Silent	SNP	C	C	T	rs371872304		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:141291417C>T	ENST00000247452.3	-	3	704	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	119					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Q119Q(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCCTTTCTGGCTGCTGG	0.552										HNSCC(46;0.14)																													uc004fbu.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(355-357)CAG>CAA		melanoma antigen family C, 2		-		2,3833		0,2,1630,571	80.0	79.0	80.0		357	-2.3	0.0	X		80	0,6728		0,0,2428,1872	no	coding-synonymous	MAGEC2	NM_016249.3		0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189		119/374	141291417	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291417C>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.357G>A	X.37:g.141291417C>T		HNSCC(46;0.14)					p.Q119Q	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	705	-	Acute lymphoblastic leukemia(192;6.56e-05)		119					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.357G>A	CCDS14678.1																																																																																				0.552	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		4	59	0	0	0	0.008291	0	4	59				
MAGEA11	4110	broad.mit.edu	37	X	148798282	148798282	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:148798282C>A	ENST00000355220.5	+	5	1238	c.1136C>A	c.(1135-1137)cCt>cAt	p.P379H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P350H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	379	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P379H(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCACTGATCCTGCATGCTAT	0.557																																							uc004fdq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1135-1137)CCT>CAT		melanoma antigen family A, 11 isoform a							120.0	112.0	115.0					X																	148798282		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798282C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1136C>A	X.37:g.148798282C>A	ENSP00000347358:p.Pro379His					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.P350H	p.P379H	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	1238	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		379			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1136C>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	14.70	2.612619	0.46631	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.06449	3.3;3.3	0.909	0.909	0.19332	.	.	.	.	.	T	0.27967	0.0689	H	0.94620	3.56	0.09310	N	1	D;D	0.65815	0.995;0.985	D;D	0.71870	0.975;0.96	T	0.04991	-1.0913	8	.	.	.	.	4.8361	0.13466	0.0:1.0:0.0:0.0	.	350;379	G5E962;P43364	.;MAGAB_HUMAN	H	350;379	ENSP00000328177:P350H;ENSP00000347358:P379H	.	P	+	2	0	MAGEA11	148576123	0.037000	0.19845	0.003000	0.11579	0.810000	0.45777	1.737000	0.38197	0.721000	0.32231	0.377000	0.23210	CCT		0.557	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		34	132	1	0	2.68265e-12	0.002836	4.45536e-12	34	132				
GPR50	9248	broad.mit.edu	37	X	150349713	150349713	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:150349713C>A	ENST00000218316.3	+	2	1727	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	553	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.P553H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCCCACCCTGTGTCTGAC	0.637																																							uc010ntg.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1657-1659)CCT>CAT		G protein-coupled receptor 50							63.0	69.0	67.0					X																	150349713		2156	4245	6401	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349713C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1658C>A	X.37:g.150349713C>A	ENSP00000218316:p.Pro553His						p.P553H	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1793	+	Acute lymphoblastic leukemia(192;6.56e-05)		553			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1658C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252634	0.22880	.	.	ENSG00000102195	ENST00000218316	T	0.72394	-0.65	3.33	-0.565	0.11771	.	0.971478	0.08339	N	0.961113	T	0.41743	0.1172	N	0.08118	0	0.09310	N	1	P	0.46277	0.875	B	0.34824	0.19	T	0.37549	-0.9701	10	0.72032	D	0.01	-0.9578	3.5031	0.07680	0.0:0.2933:0.2013:0.5053	.	553	Q13585	MTR1L_HUMAN	H	553	ENSP00000218316:P553H	ENSP00000218316:P553H	P	+	2	0	GPR50	150100371	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.325000	0.07976	-0.201000	0.10284	0.529000	0.55759	CCT		0.637	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		13	49	1	0	0.00136819	0.001368	0.00152184	13	49				
BGN	633	broad.mit.edu	37	X	152772618	152772618	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:152772618G>C	ENST00000331595.4	+	7	1070	c.884G>C	c.(883-885)gGg>gCg	p.G295A	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	295					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)	p.G295A(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCCTCAGGGCTCCCAGAC	0.637																																							uc004fhr.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(883-885)GGG>GCG		biglycan preproprotein							23.0	21.0	22.0					X																	152772618		2200	4299	6499	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152772618G>C	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.884G>C	X.37:g.152772618G>C	ENSP00000327336:p.Gly295Ala					BGN_uc004fhq.1_RNA	p.G295A	NM_001711	NP_001702	P21810	PGS1_HUMAN			7	1056	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		295			LRR 10.		D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.884G>C	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072306	0.55646	.	.	ENSG00000182492	ENST00000331595;ENST00000370204;ENST00000430380	T;T	0.52057	0.68;0.68	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.60904	1.88	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.57505	-0.7800	10	0.14656	T	0.56	-31.604	16.3401	0.83079	0.0:0.0:1.0:0.0	.	295	P21810	PGS1_HUMAN	A	295;234;234	ENSP00000327336:G295A;ENSP00000359223:G234A	ENSP00000327336:G295A	G	+	2	0	BGN	152425812	1.000000	0.71417	0.049000	0.19019	0.158000	0.22134	5.293000	0.65680	2.198000	0.70561	0.529000	0.55759	GGG		0.637	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		3	10	0	0	0	0.004672	0	3	10				
L1CAM	3897	broad.mit.edu	37	X	153129776	153129777	+	Splice_Site	DNP	CC	CC	AT			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:153129776_153129777CC>AT	ENST00000370060.1	-	25	3511_3512	c.3322_3323GG>AT	c.(3322-3324)GGc>ATc	p.G1108I	L1CAM_ENST00000361699.4_Splice_Site_p.G1108I|L1CAM_ENST00000361981.3_Splice_Site_p.G1103I|L1CAM_ENST00000370057.3_Splice_Site_p.G1108I|L1CAM_ENST00000543994.1_Splice_Site_p.G1110I|L1CAM_ENST00000370055.1_Splice_Site_p.G1103I|L1CAM_ENST00000538883.1_Splice_Site_p.G1110I	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1108	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.?(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGCGCCTCACCTGTGCCATTG	0.594																																							uc004fjb.2		NA																	1	Unknown(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.e24+1		L1 cell adhesion molecule isoform 1 precursor																																				SO:0001630	splice_region_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153129776_153129777CC>AT	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3322_3323delinsAT	X.37:g.153129776_153129777delinsAT						L1CAM_uc004fjc.2_Splice_Site_p.G1108_splice|L1CAM_uc010nuo.2_Splice_Site_p.G1103_splice	p.G1108_splice	NM_000425	NP_000416	P32004	L1CAM_HUMAN			24	3430	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Splice_Site	DNP	ENST00000370060.1	37	c.3322_splice	CCDS14733.1																																																																																				0.594	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	Missense_Mutation	21	91	0	0	0	0.004672	0	21	91				
PRAMEF4	400735	broad.mit.edu	37	1	12942121	12942121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:12942121delC	ENST00000235349.5	-	3	499	c.429delG	c.(427-429)atgfs	p.M143fs		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	143					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGTCCTCTCATCCTTGGAC	0.507																																							uc001aun.2		NA																	0				ovary(1)	1						c.(427-429)ATGfs		PRAME family member 4							55.0	67.0	62.0					1																	12942121		1413	2640	4053	SO:0001589	frameshift_variant	400735							g.chr1:12942121delC		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.429delG	1.37:g.12942121delC	ENSP00000235349:p.Met143fs						p.M143fs	NM_001009611	NP_001009611	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	500	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	143					Q5LJB5	Frame_Shift_Del	DEL	ENST00000235349.5	37	c.429delG	CCDS30592.1																																																																																				0.507	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		54	213	NA	NA	NA	NA	NA	54	213	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36380996	36380996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:36380996delG	ENST00000373204.4	+	15	2094	c.1881delG	c.(1879-1881)gtgfs	p.V627fs	AGO1_ENST00000373206.1_Frame_Shift_Del_p.V552fs	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	627	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GTGCTACTGTGCGGGTACAGC	0.527																																							uc001bzl.2		NA																	0				ovary(2)|skin(1)	3						c.(1879-1881)GTGfs		eukaryotic translation initiation factor 2C, 1							159.0	133.0	142.0					1																	36380996		2203	4300	6503	SO:0001589	frameshift_variant	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36380996delG	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1881delG	1.37:g.36380996delG	ENSP00000362300:p.Val627fs					EIF2C1_uc001bzk.2_Frame_Shift_Del_p.V552fs|EIF2C1_uc009vuy.2_RNA	p.V627fs	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			15	2094	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	627			Piwi.		Q5TA57|Q6P4S0	Frame_Shift_Del	DEL	ENST00000373204.4	37	c.1881delG	CCDS398.1																																																																																				0.527	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			11	61	NA	NA	NA	NA	NA	11	61	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158908283	158908284	+	Frame_Shift_Ins	INS	-	-	A	rs138593148		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158908283_158908284insA	ENST00000368140.1	+	3	607_608	c.362_363insA	c.(361-366)ccaagcfs	p.S122fs	PYHIN1_ENST00000368138.3_Frame_Shift_Ins_p.S113fs|PYHIN1_ENST00000392252.3_Frame_Shift_Ins_p.S113fs|PYHIN1_ENST00000368135.4_Frame_Shift_Ins_p.S122fs|PYHIN1_ENST00000392254.2_Frame_Shift_Ins_p.S122fs	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	122					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCATGCACCCCAAGCAACCGTC	0.455																																							uc001ftb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(361-363)CCAfs		pyrin and HIN domain family, member 1 alpha 1																																				SO:0001589	frameshift_variant	149628				cell cycle	nuclear speck		g.chr1:158908283_158908284insA	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.364dupA	1.37:g.158908285_158908285dupA	ENSP00000357122:p.Ser122fs					PYHIN1_uc001fta.3_Frame_Shift_Ins_p.P121fs|PYHIN1_uc001ftc.2_Frame_Shift_Ins_p.P112fs|PYHIN1_uc001ftd.2_Frame_Shift_Ins_p.P121fs|PYHIN1_uc001fte.2_Frame_Shift_Ins_p.P112fs	p.P121fs	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			3	607_608	+	all_hematologic(112;0.0378)		121					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Frame_Shift_Ins	INS	ENST00000368140.1	37	c.362_363insA	CCDS1178.1																																																																																				0.455	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		8	73	NA	NA	NA	NA	NA	8	73	---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-	rs193031527		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	CTG	CTG	-	-	CTG	CTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626																																							uc001hpm.1		NA																	1	Deletion - In frame(1)		breast(1)	ovary(1)|breast(1)	2						c.(2323-2325)CAGdel		transmembrane protein 63A																																				SO:0001651	inframe_deletion	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034840_226034842delCTG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2323_2325delCAG	1.37:g.226034849_226034851delCTG	ENSP00000355800:p.Gln775del						p.Q775del	NM_014698	NP_055513	O94886	TM63A_HUMAN			24	2573_2575	-	Breast(184;0.197)		775					Q53GI7|Q5TE96|Q8N2U2	In_Frame_Del	DEL	ENST00000366835.3	37	c.2323_2325delCAG	CCDS31042.1																																																																																				0.626	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		7	119	NA	NA	NA	NA	NA	7	119	---	---	---	---
OR13G1	441933	broad.mit.edu	37	1	247836003	247836004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247836003_247836004insT	ENST00000359688.2	-	1	361_362	c.340_341insA	c.(340-342)accfs	p.T114fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATAGGCCATGGTGGTGAAGAGA	0.465																																							uc001idi.1		NA																	0				skin(1)	1						c.(340-342)ACCfs		olfactory receptor, family 13, subfamily G,																																				SO:0001589	frameshift_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836003_247836004insT	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.341dupA	1.37:g.247836004_247836004dupT	ENSP00000352717:p.Thr114fs						p.T114fs	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	340_341	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		114			Helical; Name=3; (Potential).		B2RN80|Q5T2T2|Q6IF86	Frame_Shift_Ins	INS	ENST00000359688.2	37	c.340_341insA	CCDS31094.1																																																																																				0.465	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		13	37	NA	NA	NA	NA	NA	13	37	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16941090	16941090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:16941090delC	ENST00000377833.4	-	54	8568	c.8503delG	c.(8503-8505)gccfs	p.A2835fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2835	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAGTAATGGCCGTCCAGGAA	0.433																																							uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(8503-8505)GCCfs		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						166.0	151.0	156.0					10																	16941090		2203	4300	6503	SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16941090delC	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8503delG	10.37:g.16941090delC	ENSP00000367064:p.Ala2835fs					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Frame_Shift_Del_p.A191fs	p.A2835fs	NM_001081	NP_001072	O60494	CUBN_HUMAN			54	8555	-			2835			CUB 21.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.8503delG	CCDS7113.1																																																																																				0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		13	86	NA	NA	NA	NA	NA	13	86	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68535271	68535271	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:68535271delT	ENST00000433211.2	-	8	1233	c.1059delA	c.(1057-1059)aaafs	p.K353fs	CTNNA3_ENST00000373744.4_Frame_Shift_Del_p.K353fs	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TACTCCTTTCTTTTTTTCCAG	0.358																																							uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1057-1059)AAAfs		catenin, alpha 3							152.0	148.0	150.0					10																	68535271		2203	4300	6503	SO:0001589	frameshift_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68535271delT	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1059delA	10.37:g.68535271delT	ENSP00000389714:p.Lys353fs					CTNNA3_uc001jmw.2_Frame_Shift_Del_p.K353fs|CTNNA3_uc001jmx.3_Frame_Shift_Del_p.K353fs	p.K353fs	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			8	1182	-			353			Potential.			Frame_Shift_Del	DEL	ENST00000433211.2	37	c.1059delA	CCDS7269.1																																																																																				0.358	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		20	134	NA	NA	NA	NA	NA	20	134	---	---	---	---
OR51B4	79339	broad.mit.edu	37	11	5322666	5322666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:5322666delG	ENST00000380224.1	-	1	560	c.511delC	c.(511-513)ctcfs	p.L172fs	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	172					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)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTGCAAGAGGGCACGGGAA	0.413																																							uc010qza.1		NA																	0				pancreas(1)|skin(1)	2						c.(511-513)CTCfs		olfactory receptor, family 51, subfamily B,							117.0	106.0	110.0					11																	5322666		2201	4297	6498	SO:0001589	frameshift_variant	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322666delG	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.511delC	11.37:g.5322666delG	ENSP00000369573:p.Leu172fs					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.L171fs	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	511	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	171			Extracellular (Potential).		A7MAV5|Q6NTD7	Frame_Shift_Del	DEL	ENST00000380224.1	37	c.511delC	CCDS7757.1																																																																																				0.413	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		10	48	NA	NA	NA	NA	NA	10	48	---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67269818	67269818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:67269818delC	ENST00000534749.1	-	3	548	c.360delG	c.(358-360)gggfs	p.G120fs	PITPNM1_ENST00000356404.3_Frame_Shift_Del_p.G120fs|PITPNM1_ENST00000436757.2_Frame_Shift_Del_p.G120fs			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	120					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TTGGCTGCTGCCCCCCATCAG	0.607																																					GBM(28;144 709 4607 5525)	GBM(28;144 709 4607 5525)	uc001olx.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(358-360)GGGfs		phosphatidylinositol transfer protein,							75.0	74.0	75.0					11																	67269818		2200	4295	6495	SO:0001589	frameshift_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269818delC	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.360delG	11.37:g.67269818delC	ENSP00000437286:p.Gly120fs					PITPNM1_uc001oly.2_Frame_Shift_Del_p.G120fs|PITPNM1_uc001olz.2_Frame_Shift_Del_p.G120fs	p.G120fs	NM_004910	NP_004901	O00562	PITM1_HUMAN			3	549	-			120					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Frame_Shift_Del	DEL	ENST00000534749.1	37	c.360delG	CCDS31620.1																																																																																				0.607	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		18	65	NA	NA	NA	NA	NA	18	65	---	---	---	---
BIRC3	330	broad.mit.edu	37	11	102201833	102201838	+	In_Frame_Del	DEL	AAAACA	AAAACA	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	AAAACA	AAAACA	-	-	AAAACA	AAAACA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:102201833_102201838delAAAACA	ENST00000263464.3	+	6	3935_3940	c.1185_1190delAAAACA	c.(1183-1191)gtaaaacag>gtg	p.KQ396del	BIRC3_ENST00000532808.1_In_Frame_Del_p.KQ396del	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	396					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GAAGCCTGGTAAAACAGACAGTTCAG	0.393			T	MALT1	MALT																																		uc001pgx.2		NA		Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				ovary(3)|skin(1)	4						c.(1183-1191)GTAAAACAG>GTG		baculoviral IAP repeat-containing protein 3																																				SO:0001651	inframe_deletion	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102201833_102201838delAAAACA	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1185_1190delAAAACA	11.37:g.102201833_102201838delAAAACA	ENSP00000263464:p.Lys396_Gln397del						p.KQ396del	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	7	1407_1412	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	396_397					Q16628|Q9HC27|Q9UP46	In_Frame_Del	DEL	ENST00000263464.3	37	c.1185_1190delAAAACA	CCDS8315.1																																																																																				0.393	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		8	62	NA	NA	NA	NA	NA	8	62	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29673641	29673641	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:29673641delC	ENST00000539277.1	-	12	1856	c.1798delG	c.(1798-1800)gaafs	p.E600fs	RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000256062.5_Frame_Shift_Del_p.E492fs|TMTC1_ENST00000551659.1_Frame_Shift_Del_p.E662fs|TMTC1_ENST00000552618.1_Frame_Shift_Del_p.E624fs|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	600						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCTTCAGCTTCTTTAAACCGC	0.328																																							uc001rjb.2		NA																	0					0						c.(1474-1476)GAAfs		transmembrane and tetratricopeptide repeat							104.0	94.0	98.0					12																	29673641		2203	4300	6503	SO:0001589	frameshift_variant	83857					integral to membrane	binding	g.chr12:29673641delC		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1798delG	12.37:g.29673641delC	ENSP00000442046:p.Glu600fs					TMTC1_uc001riz.2_Frame_Shift_Del_p.E249fs|TMTC1_uc001rja.2_Frame_Shift_Del_p.E336fs|TMTC1_uc001riy.2_5'Flank	p.E492fs	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			12	1948	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		600			TPR 4.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Frame_Shift_Del	DEL	ENST00000539277.1	37	c.1474delG	CCDS53772.1																																																																																				0.328	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		10	70	NA	NA	NA	NA	NA	10	70	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112622024	112622024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:112622024delG	ENST00000430131.2	-	60	10625	c.9480delC	c.(9478-9480)gccfs	p.A3161fs	HECTD4_ENST00000377560.5_Frame_Shift_Del_p.A3411fs|HECTD4_ENST00000550722.1_Frame_Shift_Del_p.A3437fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3161					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGGGCGGGCGGCGAGGGGCT	0.582																																							uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(9478-9480)GCCfs		chromosome 12 open reading frame 51							100.0	113.0	109.0					12																	112622024		1944	4133	6077	SO:0001589	frameshift_variant	283450							g.chr12:112622024delG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9480delC	12.37:g.112622024delG	ENSP00000404379:p.Ala3161fs						p.A3160fs	NM_001109662	NP_001103132					54	9498	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	ENST00000430131.2	37	c.9480delC																																																																																					0.582	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		18	146	NA	NA	NA	NA	NA	18	146	---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117583913	117583914	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:117583913_117583914insT	ENST00000330622.5	-	12	1864_1865	c.1865_1866insA	c.(1864-1866)aagfs	p.K622fs	FBXO21_ENST00000427718.2_Frame_Shift_Ins_p.K615fs			O94952	FBX21_HUMAN	F-box protein 21	622					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGTTCTCTTTCTTTGCACTGTA	0.465																																					GBM(168;452 2038 13535 17701 43680)	GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NA																	0				kidney(1)	1						c.(1864-1866)AAGfs		F-box only protein 21 isoform 1																																				SO:0001589	frameshift_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117583913_117583914insT	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1866dupA	12.37:g.117583916_117583916dupT	ENSP00000328187:p.Lys622fs					FBXO21_uc001twj.2_Frame_Shift_Ins_p.K615fs|FBXO21_uc009zwq.2_Frame_Shift_Ins_p.K555fs	p.K622fs	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	12	1904_1905	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		622					B3KMF0|Q5BJG0|Q9H087	Frame_Shift_Ins	INS	ENST00000330622.5	37	c.1865_1866insA	CCDS9184.1																																																																																				0.465	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		10	61	NA	NA	NA	NA	NA	10	61	---	---	---	---
GPR139	124274	broad.mit.edu	37	16	20043388	20043389	+	Frame_Shift_Ins	INS	-	-	G	rs140063049		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:20043388_20043389insG	ENST00000570682.1	-	2	1030_1031	c.730_731insC	c.(730-732)cgcfs	p.R244fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCAA	0.545																																							uc002dgu.1		NA																	0				ovary(2)	2						c.(730-732)CGCfs		G protein-coupled receptor 139																																				SO:0001589	frameshift_variant	124274					integral to membrane|plasma membrane		g.chr16:20043388_20043389insG	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.731dupC	16.37:g.20043394_20043394dupG	ENSP00000458791:p.Arg244fs					GPR139_uc010vaw.1_Frame_Shift_Ins_p.R151fs	p.R244fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	892_893	-			244			Helical; Name=6; (Potential).		A8K5R9|Q86SP2|Q8TDU8	Frame_Shift_Ins	INS	ENST00000570682.1	37	c.730_731insC	CCDS32398.1																																																																																				0.545	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		7	55	NA	NA	NA	NA	NA	7	55	---	---	---	---
NPIPB5	100132247	broad.mit.edu	37	16	22545922	22545922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:22545922delC	ENST00000517539.1	+	8	1693	c.1618delC	c.(1618-1620)ccgfs	p.P540fs	NPIPB5_ENST00000424340.1_Frame_Shift_Del_p.P540fs|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	540	Pro-rich.					integral component of membrane (GO:0016021)											TCTGCGGGGGCCGCTTCCACC	0.552																																							uc010bxg.2		NA																	0					0						c.(1618-1620)CCGfs		hypothetical protein LOC100132247							3.0	3.0	3.0					16																	22545922		593	1327	1920	SO:0001589	frameshift_variant	100132247					integral to membrane		g.chr16:22545922delC		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1618delC	16.37:g.22545922delC	ENSP00000430633:p.Pro540fs					LOC100132247_uc010vbv.1_Frame_Shift_Del_p.P540fs|LOC100132247_uc010vbw.1_Intron|LOC100132247_uc010bxi.2_Frame_Shift_Del_p.P521fs|LOC100132247_uc010bxk.2_Frame_Shift_Del_p.P357fs|uc010vbx.1_5'Flank	p.P540fs	NM_001135865	NP_001129337	A8MRT5	K220L_HUMAN			9	1800	+			540			Pro-rich.		B4DK13	Frame_Shift_Del	DEL	ENST00000517539.1	37	c.1618delC	CCDS45443.1																																																																																				0.552	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		7	129	NA	NA	NA	NA	NA	7	129	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24192147	24192147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:24192147delG	ENST00000321728.7	+	13	1606	c.1431delG	c.(1429-1431)gagfs	p.E477fs	PRKCB_ENST00000303531.7_Frame_Shift_Del_p.E477fs	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	477	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCGATTCTGAGGGACACATCA	0.453																																							uc002dmd.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1429-1431)GAGfs		protein kinase C, beta isoform 1	Vitamin E(DB00163)						214.0	185.0	195.0					16																	24192147		2197	4300	6497	SO:0001589	frameshift_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24192147delG	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1431delG	16.37:g.24192147delG	ENSP00000318315:p.Glu477fs					PRKCB_uc002dme.2_Frame_Shift_Del_p.E477fs	p.E477fs	NM_212535	NP_997700	P05771	KPCB_HUMAN			13	1628	+			477			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Frame_Shift_Del	DEL	ENST00000321728.7	37	c.1431delG	CCDS10618.1																																																																																				0.453	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		16	115	NA	NA	NA	NA	NA	16	115	---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88694450	88694451	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:88694450_88694451insA	ENST00000301011.5	+	15	2592_2593	c.2392_2393insA	c.(2392-2394)cagfs	p.Q798fs	ZC3H18_ENST00000452588.2_Frame_Shift_Ins_p.Q822fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	798						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCGACACCCCAGCAGGCACCC	0.584																																					Ovarian(121;375 2276 20373 38669)	Ovarian(121;375 2276 20373 38669)	uc002fky.2		NA																	0				skin(1)	1						c.(2392-2394)CAGfs		zinc finger CCCH-type containing 18																																				SO:0001589	frameshift_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88694450_88694451insA	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2393dupA	16.37:g.88694451_88694451dupA	ENSP00000301011:p.Gln798fs					ZC3H18_uc010voz.1_Frame_Shift_Ins_p.Q822fs|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Frame_Shift_Ins_p.Q68fs	p.Q798fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	15	2592_2593	+			798					Q96DG4|Q96MP7	Frame_Shift_Ins	INS	ENST00000301011.5	37	c.2392_2393insA	CCDS10967.1																																																																																				0.584	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		20	120	NA	NA	NA	NA	NA	20	120	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37575999	37575999	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:37575999delC	ENST00000394287.3	-	14	1473	c.1268delG	c.(1267-1269)agcfs	p.S423fs	MED1_ENST00000300651.6_Frame_Shift_Del_p.S423fs			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTGACACAGCTTCCAATGAG	0.433										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(1267-1269)AGCfs		mediator complex subunit 1							144.0	140.0	141.0					17																	37575999		2203	4300	6503	SO:0001589	frameshift_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37575999delC	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1268delG	17.37:g.37575999delC	ENSP00000377828:p.Ser423fs	HNSCC(31;0.082)				MED1_uc010wee.1_Frame_Shift_Del_p.S251fs|MED1_uc002hru.2_Frame_Shift_Del_p.S423fs	p.S423fs	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	14	1480	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	423			Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	ENST00000394287.3	37	c.1268delG																																																																																					0.433	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		22	68	NA	NA	NA	NA	NA	22	68	---	---	---	---
NXPH3	11248	broad.mit.edu	37	17	47656602	47656602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:47656602delC	ENST00000328741.5	+	2	1061	c.699delC	c.(697-699)gtcfs	p.V233fs	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Frame_Shift_Del_p.V233fs	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	233	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					ATCGGCTGGTCCAGAAGGTGT	0.602																																							uc002ipa.2		NA																	0				pancreas(1)|skin(1)	2						c.(697-699)GTCfs		neurexophilin 3 precursor							52.0	51.0	51.0					17																	47656602		2203	4300	6503	SO:0001589	frameshift_variant	11248				neuropeptide signaling pathway	extracellular region		g.chr17:47656602delC	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.699delC	17.37:g.47656602delC	ENSP00000329295:p.Val233fs					NXPH3_uc010wlw.1_Frame_Shift_Del_p.V233fs	p.V233fs	NM_007225	NP_009156	O95157	NXPH3_HUMAN			2	983	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		233			V (Cys-rich).		Q8NDC3|Q8TBF6|Q9ULR1	Frame_Shift_Del	DEL	ENST00000328741.5	37	c.699delC	CCDS11550.1																																																																																				0.602	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			8	62	NA	NA	NA	NA	NA	8	62	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54517785	54517785	+	Splice_Site	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:54517785delG	ENST00000318698.2	+	8	1052	c.1017delG	c.(1015-1017)atg>at	p.M339fs	ANKFN1_ENST00000566473.2_Splice_Site_p.M339fs	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	339	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GACTTACAATGGTAAATGTCC	0.428																																							uc002iun.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1015-1017)ATGfs		ankyrin-repeat and fibronectin type III domain							89.0	94.0	93.0					17																	54517785		2203	4300	6503	SO:0001630	splice_region_variant	162282							g.chr17:54517785delG	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1017+1G>-	17.37:g.54517785delG							p.M339fs	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			8	1052	+			339			Fibronectin type-III.			Frame_Shift_Del	DEL	ENST00000318698.2	37	c.1017delG	CCDS32686.1																																																																																				0.428	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	Frame_Shift_Del	13	53	NA	NA	NA	NA	NA	13	53	---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72249262	72249263	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:72249262_72249263insAA	ENST00000269346.4	+	12	1376_1377	c.1302_1303insAA	c.(1303-1305)cccfs	p.P435fs	TTYH2_ENST00000441391.2_Frame_Shift_Ins_p.P114fs|TTYH2_ENST00000529107.1_Frame_Shift_Ins_p.P414fs	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	435						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACCCCTTTAACCCCCAAGCCTG	0.584																																							uc002jkc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1300-1305)AACCCCfs		tweety 2 isoform 1																																				SO:0001589	frameshift_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72249262_72249263insAA		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	Exception_encountered	17.37:g.72249262_72249263insAA	ENSP00000269346:p.Pro435fs					TTYH2_uc010wqw.1_Frame_Shift_Ins_p.N413fs|TTYH2_uc002jkd.2_Frame_Shift_Ins_p.N113fs	p.N434fs	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			12	1333_1334	+			434_435			Cytoplasmic (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Frame_Shift_Ins	INS	ENST00000269346.4	37	c.1302_1303insAA	CCDS32717.1																																																																																				0.584	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			16	114	NA	NA	NA	NA	NA	16	114	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2222371	2222371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:2222371delC	ENST00000398665.3	+	24	3239	c.3203delC	c.(3202-3204)accfs	p.T1068fs		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1068					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCCCTGACCGCCAGCGCC	0.672																																							uc002lvb.3		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(3202-3204)ACCfs		DOT1-like, histone H3 methyltransferase							14.0	18.0	17.0					19																	2222371		2079	4200	6279	SO:0001589	frameshift_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222371delC	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3203delC	19.37:g.2222371delC	ENSP00000381657:p.Thr1068fs					DOT1L_uc002lvc.1_Frame_Shift_Del_p.T362fs|DOT1L_uc002lve.1_3'UTR	p.T1068fs	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3239	+		Hepatocellular(1079;0.137)	1068					O60379|Q96JL1	Frame_Shift_Del	DEL	ENST00000398665.3	37	c.3203delC	CCDS42460.1																																																																																				0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		7	16	NA	NA	NA	NA	NA	7	16	---	---	---	---
NKPD1	284353	broad.mit.edu	37	19	45655751	45655752	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:45655751_45655752insT	ENST00000438936.2	-	3	1488_1489	c.1277_1278insA	c.(1276-1278)cccfs	p.P426fs	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Frame_Shift_Ins_p.P426fs|NKPD1_ENST00000429338.1_Frame_Shift_Ins_p.P426fs|NKPD1_ENST00000317951.4_Frame_Shift_Ins_p.P648fs			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	426						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGCGCGGCGTGGGGCCCCCAAA	0.723																																							uc010xxi.1		NA																	0					0						c.(1942-1944)CCCfs		NTPase, KAP family P-loop domain containing 1																																				SO:0001589	frameshift_variant	284353							g.chr19:45655751_45655752insT	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1277_1278insA	19.37:g.45655751_45655752insT	ENSP00000401739:p.Pro426fs						p.P648fs	NM_198478	NP_940880				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1943_1944	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Frame_Shift_Ins	INS	ENST00000438936.2	37	c.1943_1944insA																																																																																					0.723	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		8	6	NA	NA	NA	NA	NA	8	6	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53994115	53994116	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:53994115_53994116delTG	ENST00000396403.4	+	4	757_758	c.629_630delTG	c.(628-630)atgfs	p.M210fs	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAGGTACACATGAGAGAAAAGT	0.347																																							uc002qbu.2		NA																	0				large_intestine(1)	1						c.(628-630)ATGfs		zinc finger protein 813																																				SO:0001589	frameshift_variant	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994115_53994116delTG	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.629_630delTG	19.37:g.53994115_53994116delTG	ENSP00000379684:p.Met210fs					ZNF813_uc010eqq.1_Intron	p.M210fs	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	757_758	+			210						Frame_Shift_Del	DEL	ENST00000396403.4	37	c.629_630delTG	CCDS46172.1																																																																																				0.347	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		46	62	NA	NA	NA	NA	NA	46	62	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106837	55106837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:55106837delC	ENST00000251372.3	+	5	813	c.631delC	c.(631-633)cccfs	p.P211fs	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Frame_Shift_Del_p.P211fs|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	211	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTGGTCTCTACCCAGTGATCT	0.597																																							uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(631-633)CCCfs		leukocyte immunoglobulin-like receptor,							143.0	150.0	148.0					19																	55106837		2203	4300	6503	SO:0001589	frameshift_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106837delC	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.631delC	19.37:g.55106837delC	ENSP00000251372:p.Pro211fs					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Frame_Shift_Del_p.P211fs	p.P211fs	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	813	+			211			Ig-like C2-type 2.|Extracellular (Potential).		O75018|Q3MJA6	Frame_Shift_Del	DEL	ENST00000251372.3	37	c.631delC	CCDS12901.1																																																																																				0.597	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		62	67	NA	NA	NA	NA	NA	62	67	---	---	---	---
DHRS9	10170	broad.mit.edu	37	2	169939978	169939978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:169939978delG	ENST00000327239.4	+	6	1957	c.453delG	c.(451-453)ttgfs	p.L151fs	DHRS9_ENST00000428522.1_Frame_Shift_Del_p.L151fs|DHRS9_ENST00000602501.1_Frame_Shift_Del_p.L151fs|DHRS9_ENST00000357546.2_Frame_Shift_Del_p.L151fs|DHRS9_ENST00000421653.1_Frame_Shift_Del_p.L4fs|DHRS9_ENST00000432060.2_Frame_Shift_Del_p.L211fs|DHRS9_ENST00000436483.2_Frame_Shift_Del_p.L151fs|DHRS9_ENST00000412271.1_Frame_Shift_Del_p.L151fs	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	151					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TGCTTCCTTTGGTCAAGAAAG	0.473																																							uc002uep.2		NA																	0					0						c.(451-453)TTGfs		NADP-dependent retinol dehydrogenase/reductase							135.0	126.0	129.0					2																	169939978		2203	4300	6503	SO:0001589	frameshift_variant	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169939978delG	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.453delG	2.37:g.169939978delG	ENSP00000316670:p.Leu151fs					DHRS9_uc002ueq.2_Frame_Shift_Del_p.L151fs|DHRS9_uc010zdc.1_Frame_Shift_Del_p.L211fs|DHRS9_uc010zdd.1_Frame_Shift_Del_p.L151fs|DHRS9_uc010zde.1_Frame_Shift_Del_p.L151fs	p.L151fs	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN			6	1957	+			151					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Frame_Shift_Del	DEL	ENST00000327239.4	37	c.453delG	CCDS2231.1																																																																																				0.473	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		14	94	NA	NA	NA	NA	NA	14	94	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170058337	170058337	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:170058337delC	ENST00000263816.3	-	44	8538	c.8253delG	c.(8251-8253)gggfs	p.G2751fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2751	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"""	GGACACATCGCCCATTGGCAC	0.478																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(8251-8253)GGGfs		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						133.0	116.0	121.0					2																	170058337		2203	4300	6503	SO:0001589	frameshift_variant	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.chr2:170058337delC		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.8253delG	2.37:g.170058337delC	ENSP00000263816:p.Gly2751fs						p.G2751fs	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8466	-			2751			Extracellular (Potential).|LDL-receptor class A 17.		O00711|Q16215	Frame_Shift_Del	DEL	ENST00000263816.3	37	c.8253delG	CCDS2232.1																																																																																				0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	57	NA	NA	NA	NA	NA	10	57	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179605401	179605401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179605401delT	ENST00000591111.1	-	46	11832	c.11608delA	c.(11608-11610)agtfs	p.S3870fs	TTN_ENST00000460472.2_Frame_Shift_Del_p.S3824fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.S3949fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.S4016fs|TTN_ENST00000589042.1_Frame_Shift_Del_p.S4187fs			Q8WZ42	TITIN_HUMAN	titin	0					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)			GACATGGCACTTGGGAAGATT	0.403																																							uc010zfh.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.(12046-12048)AGTfs		titin isoform novex-2							80.0	78.0	78.0					2																	179605401		1853	4098	5951	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605401delT	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.11608delA	2.37:g.179605401delT	ENSP00000465570:p.Ser3870fs					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Frame_Shift_Del_p.S3949fs|TTN_uc010zfj.1_Frame_Shift_Del_p.S3824fs|TTN_uc002umz.1_Intron	p.S4016fs	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12270	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.12046delA																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	73	NA	NA	NA	NA	NA	19	73	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610640	179610640	+	Intron	DEL	A	A	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179610640delA	ENST00000591111.1	-	46	10585				TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Frame_Shift_Del_p.L5496fs			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGCTCTTTAAGACCAATTC	0.398																																							uc002unb.2		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.(16486-16488)TTAfs		titin isoform novex-3							107.0	103.0	104.0					2																	179610640		2202	4300	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610640delA	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.10361-3992T>-	2.37:g.179610640delA						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.L5496fs	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16711	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.16487delT																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	96	NA	NA	NA	NA	NA	16	96	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220344787	220344788	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:220344787_220344788insC	ENST00000312358.7	+	25	5399_5400	c.5267_5268insC	c.(5266-5271)tgccagfs	p.Q1757fs	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1757	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCAGTACTGCCAGTATGGCA	0.599																																							uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(5266-5268)TGCfs		SPEG complex locus																																				SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220344787_220344788insC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5269dupC	2.37:g.220344789_220344789dupC	ENSP00000311684:p.Gln1757fs						p.C1756fs	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	25	5267_5268	+		Renal(207;0.0183)	1756			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Ins	INS	ENST00000312358.7	37	c.5267_5268insC	CCDS42824.1																																																																																				0.599	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		12	63	NA	NA	NA	NA	NA	12	63	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3129210	3129210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:3129210delC	ENST00000380266.3	-	2	828	c.507delG	c.(505-507)aagfs	p.K169fs	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	169					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAGAGCTCAGCTTACACAAAT	0.443																																							uc002whz.2		NA																	0					0						c.(505-507)AAGfs		FAST kinase domains 5							81.0	77.0	78.0					20																	3129210		2203	4300	6503	SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3129210delC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.507delG	20.37:g.3129210delC	ENSP00000369618:p.Lys169fs					uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	p.K169fs	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			2	818	-			169					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Del	DEL	ENST00000380266.3	37	c.507delG	CCDS13048.1																																																																																				0.443	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		10	36	NA	NA	NA	NA	NA	10	36	---	---	---	---
CST11	140880	broad.mit.edu	37	20	23433334	23433334	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:23433334delC	ENST00000377009.3	-	1	148	c.115delG	c.(115-117)gcafs	p.A39fs	CST11_ENST00000377007.3_Frame_Shift_Del_p.A39fs	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	39					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTTTCTACTGCCATCACTTCA	0.488																																							uc002wtf.1		NA																	0					0						c.(115-117)GCAfs		cystatin 11 isoform 1 precursor							184.0	160.0	168.0					20																	23433334		2203	4300	6503	SO:0001589	frameshift_variant	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433334delC	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.115delG	20.37:g.23433334delC	ENSP00000366208:p.Ala39fs					CST11_uc002wtg.1_Frame_Shift_Del_p.A39fs	p.A39fs	NM_130794	NP_570612	Q9H112	CST11_HUMAN			1	149	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		39					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Frame_Shift_Del	DEL	ENST00000377009.3	37	c.115delG	CCDS13155.1																																																																																				0.488	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		28	83	NA	NA	NA	NA	NA	28	83	---	---	---	---
SAMHD1	25939	broad.mit.edu	37	20	35539642	35539642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:35539642delC	ENST00000262878.4	-	11	1448	c.1249delG	c.(1249-1251)gaafs	p.E417fs		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	417					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GTATAGGCTTCCATGTCGTCA	0.383																																							uc002xgh.1		NA																	0					0						c.(1249-1251)GAAfs		SAM domain- and HD domain-containing protein 1							138.0	113.0	121.0					20																	35539642		2203	4300	6503	SO:0001589	frameshift_variant	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35539642delC	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1249delG	20.37:g.35539642delC	ENSP00000262878:p.Glu417fs						p.E417fs	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			11	1379	-		Myeloproliferative disorder(115;0.00878)	417					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Frame_Shift_Del	DEL	ENST00000262878.4	37	c.1249delG	CCDS13288.1																																																																																				0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		23	83	NA	NA	NA	NA	NA	23	83	---	---	---	---
P2RX6	9127	broad.mit.edu	37	22	21369622	21369622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:21369622delG	ENST00000413302.2	+	1	307	c.159delG	c.(157-159)gtgfs	p.V54fs	TUBA3FP_ENST00000422086.1_RNA|P2RX6_ENST00000443995.3_Splice_Site_p.W3fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.V44fs|P2RX6_ENST00000402329.3_Intron|P2RX6_ENST00000401443.1_Intron|P2RX6_ENST00000591411.1_Intron			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	54					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										TGGTCTATGTGGTAGGGTAAG	0.592																																							uc010gsu.1		NA																	0					0						c.(157-159)GTGfs		purinergic receptor P2X6 isoform 1							108.0	124.0	119.0					22																	21369622		2203	4300	6503	SO:0001589	frameshift_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21369622delG		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.159delG	22.37:g.21369622delG	ENSP00000416193:p.Val54fs					MGC16703_uc002zty.3_5'Flank|MGC16703_uc002ztx.3_5'Flank|MGC16703_uc010gss.1_5'Flank|P2RX6_uc002ztz.2_Intron|P2RX6_uc010gst.1_Frame_Shift_Del_p.V43fs|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	p.V53fs	NM_005446	NP_005437	O15547	P2RX6_HUMAN			1	159	+			53			Helical; Name=1; (Potential).		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Frame_Shift_Del	DEL	ENST00000413302.2	37	c.159delG	CCDS13788.2																																																																																				0.592	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		7	159	NA	NA	NA	NA	NA	7	159	---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46981053	46981054	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:46981053_46981054insA	ENST00000264318.3	-	3	1249_1250	c.267_268insT	c.(265-270)gttgaafs	p.E90fs		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	90					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E90K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCTACCATTTCAACATCAGAAA	0.322																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(265-270)GTTGAAfs		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001589	frameshift_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46981053_46981054insA		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.268dupT	4.37:g.46981055_46981055dupA	ENSP00000264318:p.Glu90fs						p.V89fs	NM_000809	NP_000800	P48169	GBRA4_HUMAN			3	406_407	-			89_90			Extracellular (Probable).		Q8IYR7	Frame_Shift_Ins	INS	ENST00000264318.3	37	c.267_268insT	CCDS3473.1																																																																																				0.322	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			16	57	NA	NA	NA	NA	NA	16	57	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57173812	57173812	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:57173812delC	ENST00000504228.1	+	3	337	c.232delC	c.(232-234)cccfs	p.P78fs	KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P71fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P78fs			Q6ZU35	K1211_HUMAN	KIAA1211	78										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCTGACCAGTCCCATGGAAAT	0.498																																							uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(232-234)CCCfs		hypothetical protein LOC57482							87.0	88.0	87.0					4																	57173812		1992	4160	6152	SO:0001589	frameshift_variant	57482							g.chr4:57173812delC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.232delC	4.37:g.57173812delC	ENSP00000423366:p.Pro78fs					KIAA1211_uc010iha.2_Frame_Shift_Del_p.P71fs|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.2_5'Flank|KIAA1211_uc003hbm.1_5'Flank	p.P78fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			5	623	+	Glioma(25;0.08)|all_neural(26;0.101)		78					Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	ENST00000504228.1	37	c.232delC	CCDS43230.1																																																																																				0.498	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		8	54	NA	NA	NA	NA	NA	8	54	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66356246	66356246	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:66356246delC	ENST00000273854.3	-	5	1851	c.1251delG	c.(1249-1251)cggfs	p.R417fs	EPHA5_ENST00000511294.1_Frame_Shift_Del_p.R417fs|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.R417fs	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	417	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGCCGCTTTGCCGGGGAAGGT	0.493										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0		p.R417Q(1)		lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1249-1251)CGGfs		ephrin receptor EphA5 isoform a precursor							122.0	98.0	106.0					4																	66356246		2203	4300	6503	SO:0001589	frameshift_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356246delC	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1251delG	4.37:g.66356246delC	ENSP00000273854:p.Arg417fs	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Frame_Shift_Del_p.R348fs|EPHA5_uc003hcz.2_Frame_Shift_Del_p.R417fs|EPHA5_uc011cah.1_Frame_Shift_Del_p.R417fs|EPHA5_uc011cai.1_Frame_Shift_Del_p.R417fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.R417fs	p.R417fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN			5	1444	-			417		R -> Q (in a lung adenocarcinoma sample; somatic mutation).	Fibronectin type-III 1.|Extracellular (Potential).		Q7Z3F2	Frame_Shift_Del	DEL	ENST00000273854.3	37	c.1251delG	CCDS3513.1																																																																																				0.493	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		18	50	NA	NA	NA	NA	NA	18	50	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86648978	86648978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:86648978delG	ENST00000274376.6	+	9	1822	c.1258delG	c.(1258-1260)gggfs	p.G420fs	RASA1_ENST00000512763.1_Frame_Shift_Del_p.G253fs|RASA1_ENST00000456692.2_Frame_Shift_Del_p.G243fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.G254fs	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	420	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TAACAGCATTGGGGACATCAT	0.303																																							uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(1258-1260)GGGfs		RAS p21 protein activator 1 isoform 1							65.0	64.0	64.0					5																	86648978		2203	4294	6497	SO:0001589	frameshift_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86648978delG		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1258delG	5.37:g.86648978delG	ENSP00000274376:p.Gly420fs					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Frame_Shift_Del_p.G243fs|RASA1_uc011ctv.1_Frame_Shift_Del_p.G253fs|RASA1_uc011ctw.1_Frame_Shift_Del_p.G254fs|RASA1_uc010jaw.2_Frame_Shift_Del_p.G242fs	p.G420fs	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	9	1376	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	420			SH2 2.		B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	ENST00000274376.6	37	c.1258delG	CCDS34200.1																																																																																				0.303	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		11	33	NA	NA	NA	NA	NA	11	33	---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140348144	140348144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140348144delC	ENST00000289269.5	+	1	2325	c.1793delC	c.(1792-1794)gccfs	p.A598fs	PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGAACTGCCCCTGCTGGC	0.522																																					Melanoma(190;638 2083 3390 11909 52360)	Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NA																	0				ovary(2)|skin(2)	4						c.(1792-1794)GCCfs		protocadherin alpha subfamily C, 2 isoform 1							94.0	83.0	87.0					5																	140348144		2203	4300	6503	SO:0001589	frameshift_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348144delC	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1793delC	5.37:g.140348144delC	ENSP00000289269:p.Ala598fs					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Frame_Shift_Del_p.A598fs	p.A598fs	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2033	+			598			Cadherin 6.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Frame_Shift_Del	DEL	ENST00000289269.5	37	c.1793delC	CCDS4242.1																																																																																				0.522	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		16	24	NA	NA	NA	NA	NA	16	24	---	---	---	---
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C	rs200489390		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)ggtfs	p.G212fs	CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003lwu.2		NA																	0					0						c.(634-636)GGTfs		hypothetical protein LOC408263																																				SO:0001589	frameshift_variant	408263					integral to membrane		g.chr5:156769909_156769910insC	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.636dupG	5.37:g.156769916_156769916dupC	ENSP00000310594:p.Gly212fs		OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	p.G212fs	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	823_824	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	212					A8K0Y6	Frame_Shift_Ins	INS	ENST00000312349.4	37	c.635_636insG	CCDS4337.1																																																																																				0.584	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		9	51	NA	NA	NA	NA	NA	9	51	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87964645	87964646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:87964645_87964646insA	ENST00000369577.3	+	8	1341_1342	c.1298_1299insA	c.(1297-1302)ttacttfs	p.L434fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.L429fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	434						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTGAGCTGTTACTTGTATTGA	0.386																																							uc003plm.3		NA																	0				ovary(4)	4						c.(1297-1299)TTAfs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964645_87964646insA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1299dupA	6.37:g.87964646_87964646dupA	ENSP00000358590:p.Leu434fs						p.L433fs	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1339_1340	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	433					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Ins	INS	ENST00000369577.3	37	c.1298_1299insA	CCDS47457.1																																																																																				0.386	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		11	25	NA	NA	NA	NA	NA	11	25	---	---	---	---
VSTM2A	222008	broad.mit.edu	37	7	54617582	54617582	+	Frame_Shift_Del	DEL	G	G	-	rs546336376		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:54617582delG	ENST00000407838.3	+	4	759	c.353delG	c.(352-354)aggfs	p.R118fs	VSTM2A_ENST00000302287.3_Frame_Shift_Del_p.R118fs|VSTM2A_ENST00000402026.2_Frame_Shift_Del_p.R117fs|VSTM2A_ENST00000402613.3_Frame_Shift_Del_p.R118fs|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Frame_Shift_Del_p.R118fs	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	118	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCCAAAGTGAGGAAAAAGGAT	0.433																																							uc010kzf.2		NA																	0					0						c.(352-354)AGGfs		V-set and transmembrane domain containing 2							51.0	49.0	50.0					7																	54617582		2203	4300	6503	SO:0001589	frameshift_variant	222008					extracellular region		g.chr7:54617582delG	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.353delG	7.37:g.54617582delG	ENSP00000384967:p.Arg118fs					VSTM2A_uc010kze.2_Frame_Shift_Del_p.R118fs|VSTM2A_uc003tqc.3_Frame_Shift_Del_p.R118fs	p.R118fs	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	758	+			118			Ig-like V-type.		A4D2E9|B5MC94	Frame_Shift_Del	DEL	ENST00000407838.3	37	c.353delG	CCDS5512.2																																																																																				0.433	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		7	21	NA	NA	NA	NA	NA	7	21	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81746367	81746368	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:81746367_81746368delAT	ENST00000356253.5	-	6	773_774	c.518_519delAT	c.(517-519)tatfs	p.Y173fs	CACNA2D1_ENST00000423588.1_Frame_Shift_Del_p.Y173fs|CACNA2D1_ENST00000356860.3_Frame_Shift_Del_p.Y173fs			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	173					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TACAGCCCTCATAGATGTCAGT	0.411																																							uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(517-519)TATfs		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)																																			SO:0001589	frameshift_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81746367_81746368delAT	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.518_519delAT	7.37:g.81746367_81746368delAT	ENSP00000348589:p.Tyr173fs						p.Y173fs	NM_000722	NP_000713	P54289	CA2D1_HUMAN			6	774_775	-			173			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Frame_Shift_Del	DEL	ENST00000356253.5	37	c.518_519delAT																																																																																					0.411	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				13	135	NA	NA	NA	NA	NA	13	135	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10469147	10469147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:10469147delG	ENST00000382483.3	-	4	2684	c.2461delC	c.(2461-2463)cacfs	p.H821fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	821					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGCTTCGGTGGGGGCCCACC	0.701																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2461-2463)CACfs		retinitis pigmentosa 1-like 1							18.0	23.0	22.0					8																	10469147		1958	4117	6075	SO:0001589	frameshift_variant	94137				intracellular signal transduction			g.chr8:10469147delG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2461delC	8.37:g.10469147delG	ENSP00000371923:p.His821fs						p.H821fs	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2690	-			821					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	c.2461delC	CCDS43708.1																																																																																				0.701	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	28	NA	NA	NA	NA	NA	7	28	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128827	89128827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:89128827delC	ENST00000286614.6	-	6	1273	c.992delG	c.(991-993)ggcfs	p.G331fs	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	331					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGAGGGTCTGCCGGTTGGAGG	0.532																																							uc003yeb.3		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(991-993)GGCfs		matrix metalloproteinase 16 isoform 1							142.0	140.0	141.0					8																	89128827		2203	4300	6503	SO:0001589	frameshift_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128827delC	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.992delG	8.37:g.89128827delC	ENSP00000286614:p.Gly331fs					MMP16_uc003yec.2_Frame_Shift_Del_p.G331fs	p.G331fs	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1274	-			331			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Frame_Shift_Del	DEL	ENST00000286614.6	37	c.992delG	CCDS6246.1																																																																																				0.532	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		21	66	NA	NA	NA	NA	NA	21	66	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125047670	125047670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:125047670delC	ENST00000522917.1	+	19	2645	c.2439delC	c.(2437-2439)cacfs	p.H813fs	FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.H813fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	813	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCACCAATCACCCCCCATCTA	0.542																																							uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2437-2439)CACfs		fer-1-like 6							54.0	53.0	53.0					8																	125047670		1932	4131	6063	SO:0001589	frameshift_variant	654463					integral to membrane		g.chr8:125047670delC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2439delC	8.37:g.125047670delC	ENSP00000428280:p.His813fs					uc003yqx.1_Intron	p.H813fs	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		19	2645	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		813			Cytoplasmic (Potential).|C2 3.			Frame_Shift_Del	DEL	ENST00000522917.1	37	c.2439delC	CCDS43767.1																																																																																				0.542	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		7	38	NA	NA	NA	NA	NA	7	38	---	---	---	---
PABPC5	140886	broad.mit.edu	37	X	90691552	90691552	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:90691552delG	ENST00000312600.3	+	2	1190	c.976delG	c.(976-978)gggfs	p.G326fs	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Frame_Shift_Del_p.G162fs	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	326	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TTCTTCCTTTGGGTCAATTAG	0.438																																							uc004efg.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(976-978)GGGfs		poly(A) binding protein, cytoplasmic 5							60.0	59.0	60.0					X																	90691552		2203	4299	6502	SO:0001589	frameshift_variant	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691552delG	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.976delG	X.37:g.90691552delG	ENSP00000308012:p.Gly326fs					PABPC5_uc004eff.1_Frame_Shift_Del_p.G162fs	p.G326fs	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	1416	+			326			RRM 4.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Frame_Shift_Del	DEL	ENST00000312600.3	37	c.976delG	CCDS14460.1																																																																																				0.438	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		7	53	NA	NA	NA	NA	NA	7	53	---	---	---	---
