#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
GABRD	2563	broad.mit.edu	37	1	1956994	1956994	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:1956994G>A	ENST00000378585.4	+	4	370	c.287G>A	c.(286-288)cGg>cAg	p.R96Q		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	96					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	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)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGAGCTGGCGGGACAGCAGG	0.652																																							uc001aip.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(286-288)CGG>CAG		gamma-aminobutyric acid (GABA) A receptor, delta							95.0	94.0	94.0					1																	1956994		2203	4300	6503	SO:0001583	missense	2563					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.chr1:1956994G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.287G>A	1.37:g.1956994G>A	ENSP00000367848:p.Arg96Gln						p.R96Q	NM_000815	NP_000806	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	382	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	96			Extracellular (Probable).		Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.287G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639317	0.87760	.	.	ENSG00000187730	ENST00000378585	T	0.77620	-1.11	4.4	4.4	0.53042	Neurotransmitter-gated ion-channel ligand-binding (3);	0.062950	0.64402	D	0.000008	T	0.77731	0.4174	L	0.37697	1.125	0.41287	D	0.986957	D	0.57571	0.98	P	0.51999	0.687	T	0.80683	-0.1273	10	0.56958	D	0.05	-17.4544	16.5096	0.84281	0.0:0.0:1.0:0.0	.	96	O14764	GBRD_HUMAN	Q	96	ENSP00000367848:R96Q	ENSP00000367848:R96Q	R	+	2	0	GABRD	1946854	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.034000	0.57289	2.444000	0.82710	0.561000	0.74099	CGG		0.652	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		26	5	0	0	0	0.005443	0	26	5				
CHD5	26038	broad.mit.edu	37	1	6214763	6214763	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:6214763G>A	ENST00000262450.3	-	5	801	c.702C>T	c.(700-702)ccC>ccT	p.P234P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCACAGGCTGGGGCACCTGCG	0.682																																							uc001amb.1		NA																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(700-702)CCC>CCT		chromodomain helicase DNA binding protein 5							27.0	23.0	24.0					1																	6214763		2179	4279	6458	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6214763G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.702C>T	1.37:g.6214763G>A							p.P234P	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	5	802	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	234					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.702C>T	CCDS57.1																																																																																				0.682	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		19	2	0	0	0	0.007413	0	19	2				
ERRFI1	54206	broad.mit.edu	37	1	8073505	8073505	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:8073505T>A	ENST00000377482.5	-	4	1377	c.1154A>T	c.(1153-1155)aAt>aTt	p.N385I	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	385					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTTCTTCCCATTTTCAATAAT	0.413																																							uc001aoz.2		NA																	0				ovary(1)	1						c.(1153-1155)AAT>ATT		mitogen-inducible gene 6 protein							141.0	139.0	140.0					1																	8073505		2203	4300	6503	SO:0001583	missense	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8073505T>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1154A>T	1.37:g.8073505T>A	ENSP00000366702:p.Asn385Ile					ERRFI1_uc001apa.1_Missense_Mutation_p.N310I	p.N385I	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	1403	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	385					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.1154A>T	CCDS94.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.655014	0.88056	.	.	ENSG00000116285	ENST00000377482	T	0.17854	2.25	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.71581	2.175	0.80722	D	1	D	0.67145	0.996	P	0.60236	0.871	T	0.19484	-1.0304	10	0.87932	D	0	-9.9659	15.5133	0.75802	0.0:0.0:0.0:1.0	.	385	Q9UJM3	ERRFI_HUMAN	I	385	ENSP00000366702:N385I	ENSP00000366702:N385I	N	-	2	0	ERRFI1	7996092	1.000000	0.71417	0.756000	0.31282	0.997000	0.91878	7.685000	0.84117	2.251000	0.74343	0.528000	0.53228	AAT		0.413	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		52	9	0	0	0	0.00361	0	52	9				
H6PD	9563	broad.mit.edu	37	1	9324492	9324492	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:9324492C>A	ENST00000377403.2	+	5	2242	c.1940C>A	c.(1939-1941)cCc>cAc	p.P647H	H6PD_ENST00000602477.1_Missense_Mutation_p.P658H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	647	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCGGATCCCCTACTACAAC	0.657																																							uc001apt.2		NA																	0					0						c.(1939-1941)CCC>CAC		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						41.0	44.0	43.0					1																	9324492		2203	4297	6500	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324492C>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1940C>A	1.37:g.9324492C>A	ENSP00000366620:p.Pro647His						p.P647H	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2213	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	647			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1940C>A	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374063	0.82573	.	.	ENSG00000049239	ENST00000377403	T	0.50813	0.73	5.72	5.72	0.89469	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79579	-0.1745	10	0.87932	D	0	-39.1495	18.8652	0.92289	0.0:1.0:0.0:0.0	.	647	O95479	G6PE_HUMAN	H	647	ENSP00000366620:P647H	ENSP00000366620:P647H	P	+	2	0	H6PD	9247079	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	7.384000	0.79751	2.709000	0.92574	0.561000	0.74099	CCC		0.657	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		26	8	1	0	2.79863e-10	0.004656	3.74554e-10	26	8				
KIAA2013	90231	broad.mit.edu	37	1	11983315	11983315	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:11983315T>A	ENST00000376572.3	-	2	1450	c.1265A>T	c.(1264-1266)cAg>cTg	p.Q422L	KIAA2013_ENST00000376576.3_Missense_Mutation_p.Q422L	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	422						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGGATCTGCTGGACGGA	0.642																																							uc001atk.2		NA																	0				ovary(1)	1						c.(1264-1266)CAG>CTG		hypothetical protein LOC90231 precursor							22.0	22.0	22.0					1																	11983315		2203	4300	6503	SO:0001583	missense	90231					integral to membrane		g.chr1:11983315T>A	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1265A>T	1.37:g.11983315T>A	ENSP00000365756:p.Gln422Leu					KIAA2013_uc001atl.1_Missense_Mutation_p.Q422L	p.Q422L	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1459	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	422			Extracellular (Potential).		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	c.1265A>T	CCDS141.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266620	0.59540	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	L	0.58101	1.795	0.80722	D	1	P;P	0.37141	0.529;0.584	B;B	0.40982	0.23;0.345	T	0.68112	-0.5495	9	0.72032	D	0.01	-2.636	15.1195	0.72432	0.0:0.0:0.0:1.0	.	422;422	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	L	422	.	ENSP00000365756:Q422L	Q	-	2	0	KIAA2013	11905902	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.655000	0.83696	2.232000	0.73038	0.528000	0.53228	CAG		0.642	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		11	1	0	0	0	0.001368	0	11	1				
MIIP	60672	broad.mit.edu	37	1	12091341	12091341	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:12091341G>T	ENST00000235332.4	+	9	1130	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	MIIP_ENST00000436478.2_Silent_p.G288G|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	321										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCTGGGCTGGGACATTTTTCC	0.607																																							uc001ato.1		NA																	0				ovary(1)	1						c.(961-963)GAC>TAC		invasion inhibitory protein 45							40.0	39.0	39.0					1																	12091341		2203	4300	6503	SO:0001583	missense	60672							g.chr1:12091341G>T	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.961G>T	1.37:g.12091341G>T	ENSP00000235332:p.Asp321Tyr						p.D321Y	NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN			9	1141	+			321					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.961G>T	CCDS143.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001086	0.54254	.	.	ENSG00000116691	ENST00000235332	T	0.28069	1.63	4.56	4.56	0.56223	.	0.270933	0.33732	N	0.004608	T	0.55210	0.1906	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60188	-0.7312	10	0.87932	D	0	-20.2486	12.7051	0.57056	0.0:0.0:1.0:0.0	.	321	Q5JXC2	MIIP_HUMAN	Y	321	ENSP00000235332:D321Y	ENSP00000235332:D321Y	D	+	1	0	MIIP	12013928	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	3.121000	0.50438	2.375000	0.81037	0.491000	0.48974	GAC		0.607	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		20	5	1	0	8.00594e-06	0.007413	9.20134e-06	20	5				
CASP9	842	broad.mit.edu	37	1	15844622	15844622	+	Missense_Mutation	SNP	C	C	A	rs200277520		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:15844622C>A	ENST00000333868.5	-	2	495	c.401G>T	c.(400-402)gGa>gTa	p.G134V	CASP9_ENST00000375890.4_Missense_Mutation_p.G51V|CASP9_ENST00000546424.1_Missense_Mutation_p.G134V|CASP9_ENST00000469637.1_5'Flank|CASP9_ENST00000348549.5_Missense_Mutation_p.G134V	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	134					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.G134E(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ACCAAATCCTCCAGAACCAAT	0.522																																							uc001awn.2		NA																	1	Substitution - Missense(1)	p.G134E(1)	central_nervous_system(1)	central_nervous_system(1)|kidney(1)	2						c.(400-402)GGA>GTA		caspase 9 isoform alpha preproprotein							113.0	100.0	105.0					1																	15844622		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844622C>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.401G>T	1.37:g.15844622C>A	ENSP00000330237:p.Gly134Val					CASP9_uc001awm.1_Missense_Mutation_p.G134V|CASP9_uc001awo.2_Missense_Mutation_p.G134V|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_Intron|CASP9_uc010obm.1_Missense_Mutation_p.G51V|CASP9_uc001awq.2_Missense_Mutation_p.G51V	p.G134V	NM_001229	NP_001220	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	2	496	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	134					B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.401G>T	CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	5.222	0.226483	0.09916	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000375890;ENST00000447522;ENST00000440484	T;T;T;T;T;T	0.09163	4.63;4.66;3.01;4.59;3.91;3.56	4.77	1.84	0.25277	.	1.735820	0.02593	N	0.100170	T	0.15998	0.0385	L	0.50333	1.59	0.21878	N	0.999499	P;P;B	0.47302	0.893;0.594;0.099	P;B;B	0.47981	0.563;0.215;0.097	T	0.13150	-1.0520	10	0.30078	T	0.28	.	4.8074	0.13326	0.0:0.6286:0.1777:0.1937	.	134;134;134	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	V	134;134;134;51;51;134	ENSP00000449584:G134V;ENSP00000330237:G134V;ENSP00000255256:G134V;ENSP00000365051:G51V;ENSP00000396540:G51V;ENSP00000411304:G134V	ENSP00000330237:G134V	G	-	2	0	CASP9	15717209	0.001000	0.12720	0.063000	0.19743	0.084000	0.17831	0.096000	0.15147	0.319000	0.23209	-0.251000	0.11542	GGA		0.522	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		29	12	1	0	1.30897e-18	0.009535	2.21638e-18	29	12				
EPHA2	1969	broad.mit.edu	37	1	16455969	16455969	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:16455969C>A	ENST00000358432.5	-	16	2939	c.2785G>T	c.(2785-2787)Ggc>Tgc	p.G929C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	929	Negatively regulates interaction with ARHGEF16.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCAGTGTAGCCGGCCGCCATG	0.652																																							uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(2785-2787)GGC>TGC		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						86.0	76.0	80.0					1																	16455969		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16455969C>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2785G>T	1.37:g.16455969C>A	ENSP00000351209:p.Gly929Cys						p.G929C	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	16	2922	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	929			SAM.|Cytoplasmic (Potential).|Negatively regulates interaction with ARHGEF16.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2785G>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536079	0.85812	.	.	ENSG00000142627	ENST00000358432	T	0.56444	0.46	5.77	5.77	0.91146	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.56097	D	0.000028	T	0.79776	0.4504	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84722	0.0740	10	0.87932	D	0	.	14.1904	0.65635	0.0:0.8503:0.1497:0.0	.	929	P29317	EPHA2_HUMAN	C	929	ENSP00000351209:G929C	ENSP00000351209:G929C	G	-	1	0	EPHA2	16328556	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.733000	0.84916	2.733000	0.93635	0.585000	0.79938	GGC		0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		29	7	1	0	7.26314e-15	0.007291	1.10499e-14	29	7				
ARHGEF19	128272	broad.mit.edu	37	1	16535535	16535535	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:16535535T>A	ENST00000270747.3	-	2	151	c.15A>T	c.(13-15)ccA>ccT	p.P5P	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	5					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTAGCAGGTGGCCCACAGT	0.617																																							uc001ayc.1		NA																	0				skin(2)|ovary(1)	3						c.(13-15)CCA>CCT		Rho guanine nucleotide exchange factor (GEF) 19							14.0	15.0	15.0					1																	16535535		2201	4296	6497	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16535535T>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.15A>T	1.37:g.16535535T>A						ARHGEF19_uc009voo.1_5'Flank|ARHGEF19_uc001ayb.1_5'Flank	p.P5P	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	2	152	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	5					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.15A>T	CCDS170.1																																																																																				0.617	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		13	4	0	0	0	0.004007	0	13	4				
PADI6	353238	broad.mit.edu	37	1	17707550	17707550	+	RNA	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:17707550G>C	ENST00000434762.2	+	0	494							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGAAAAAATGGATCTGGGGTC	0.507																																							uc001bak.1		NA																	0				breast(1)	1						c.(442-444)TGG>TGC		peptidylarginine deiminase type 6	L-Citrulline(DB00155)						48.0	50.0	49.0					1																	17707550		1884	4107	5991			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17707550G>C	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17707550G>C							p.W148C	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	5	444	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	140					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.444G>C																																																																																					0.507	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		5	3	0	0	0	0.000602	0	5	3				
TAS1R2	80834	broad.mit.edu	37	1	19166267	19166267	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:19166267G>A	ENST00000375371.3	-	6	2367	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	782					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)			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)	CCCCGCTGTAGGCAGACATGA	0.567																																							uc001bba.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2344-2346)GCC>GCT		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						126.0	95.0	105.0					1																	19166267		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166267G>A		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.2346C>T	1.37:g.19166267G>A							p.A782A	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	2347	-		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)	782			Extracellular (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.2346C>T	CCDS187.1																																																																																				0.567	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			10	7	0	0	0	0.006214	0	10	7				
TAS1R2	80834	broad.mit.edu	37	1	19166384	19166384	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:19166384G>A	ENST00000375371.3	-	6	2250	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	743					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)			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)	AGGCGAAGCTGAAACCCACCA	0.542																																							uc001bba.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2227-2229)TTC>TTT		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						129.0	116.0	120.0					1																	19166384		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166384G>A		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.2229C>T	1.37:g.19166384G>A							p.F743F	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	2230	-		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)	743			Helical; Name=5; (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.2229C>T	CCDS187.1																																																																																				0.542	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			19	3	0	0	0	0.010504	0	19	3				
LDLRAP1	26119	broad.mit.edu	37	1	25880543	25880543	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:25880543G>A	ENST00000374338.4	+	2	338	c.219G>A	c.(217-219)agG>agA	p.R73R	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	73	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCAAGAGGATCGTGGCTA	0.622																																							uc001bkl.3		NA																	0				ovary(1)	1						c.(217-219)AGG>AGA		low density lipoprotein receptor adaptor protein							55.0	51.0	53.0					1																	25880543		2203	4300	6503	SO:0001819	synonymous_variant	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25880543G>A	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.219G>A	1.37:g.25880543G>A							p.R73R	NM_015627	NP_056442	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	2	333	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	73			PID.		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Silent	SNP	ENST00000374338.4	37	c.219G>A	CCDS30639.1																																																																																				0.622	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		15	4	0	0	0	0.006122	0	15	4				
SRSF4	6429	broad.mit.edu	37	1	29508206	29508206	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:29508206C>A	ENST00000373795.4	-	1	293	c.59G>T	c.(58-60)cGc>cTc	p.R20L	SRSF4_ENST00000546138.1_Missense_Mutation_p.R20L|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	20	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CTTAAAGAAGCGCTCCACATC	0.687																																							uc001bro.2		NA																	0					0						c.(58-60)CGC>CTC		splicing factor, arginine/serine-rich 4							38.0	44.0	42.0					1																	29508206		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29508206C>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.59G>T	1.37:g.29508206C>A	ENSP00000362900:p.Arg20Leu					SFRS4_uc010ofy.1_Missense_Mutation_p.R20L|SFRS4_uc009vtp.2_RNA	p.R20L	NM_005626	NP_005617	Q08170	SRSF4_HUMAN		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)	1	432	-		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)	20			RRM 1.		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.59G>T	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990232	0.93106	.	.	ENSG00000116350	ENST00000373795;ENST00000434636;ENST00000546138	T;T	0.74737	2.35;-0.87	4.43	3.51	0.40186	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.058931	0.64402	N	0.000008	T	0.79557	0.4466	L	0.45352	1.415	0.58432	D	0.999999	P;D	0.89917	0.942;1.0	P;D	0.76575	0.828;0.988	T	0.80415	-0.1392	10	0.87932	D	0	.	10.6141	0.45441	0.0:0.9043:0.0:0.0957	.	20;20	F6T1J1;Q08170	.;SRSF4_HUMAN	L	20	ENSP00000362900:R20L;ENSP00000444600:R20L	ENSP00000362900:R20L	R	-	2	0	SRSF4	29380793	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.909000	0.56363	1.195000	0.43115	0.650000	0.86243	CGC		0.687	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		21	3	1	0	2.21704e-12	0.00278	3.18895e-12	21	3				
GRIK3	2899	broad.mit.edu	37	1	37346444	37346444	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:37346444T>C	ENST00000373091.3	-	3	357	c.341A>G	c.(340-342)cAg>cGg	p.Q114R	GRIK3_ENST00000373093.4_Missense_Mutation_p.Q114R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	114					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCAGGAGCCCTGTGATGGGCC	0.637																																							uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(340-342)CAG>CGG		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						101.0	96.0	98.0					1																	37346444		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346444T>C	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.341A>G	1.37:g.37346444T>C	ENSP00000362183:p.Gln114Arg					GRIK3_uc001cba.1_Missense_Mutation_p.Q114R	p.Q114R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			3	476	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	114			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.341A>G	CCDS416.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935734	0.34189	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.82619	-1.63;-1.63	4.77	4.77	0.60923	Extracellular ligand-binding receptor (1);	0.132519	0.52532	D	0.000078	T	0.70098	0.3185	N	0.08118	0	0.48341	D	0.999638	B;B	0.16396	0.009;0.017	B;B	0.24269	0.033;0.052	T	0.68296	-0.5446	10	0.56958	D	0.05	.	14.5839	0.68310	0.0:0.0:0.0:1.0	.	114;114	A9Z1Z8;Q13003	.;GRIK3_HUMAN	R	114	ENSP00000362183:Q114R;ENSP00000362185:Q114R	ENSP00000362183:Q114R	Q	-	2	0	GRIK3	37119031	1.000000	0.71417	0.993000	0.49108	0.509000	0.34042	5.889000	0.69766	1.919000	0.55581	0.459000	0.35465	CAG		0.637	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		7	5	0	0	0	0.001984	0	7	5				
GRIK3	2899	broad.mit.edu	37	1	37356641	37356641	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:37356641G>T	ENST00000373091.3	-	2	188	c.172C>A	c.(172-174)Cat>Aat	p.H58N	GRIK3_ENST00000373093.4_Missense_Mutation_p.H58N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	58					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGAAAGGCATGCTCCTCGGCA	0.502																																							uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(172-174)CAT>AAT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						296.0	253.0	268.0					1																	37356641		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356641G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.172C>A	1.37:g.37356641G>T	ENSP00000362183:p.His58Asn					GRIK3_uc001cba.1_Missense_Mutation_p.H58N	p.H58N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			2	307	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	58			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.172C>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585762	0.46110	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.82081	-1.57;-1.57	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.135804	0.53938	D	0.000049	T	0.75774	0.3895	N	0.11427	0.14	0.39233	D	0.963714	B;B	0.20459	0.045;0.045	B;B	0.32762	0.152;0.097	T	0.71543	-0.4561	10	0.46703	T	0.11	.	20.1224	0.97967	0.0:0.0:1.0:0.0	.	58;58	A9Z1Z8;Q13003	.;GRIK3_HUMAN	N	58	ENSP00000362183:H58N;ENSP00000362185:H58N	ENSP00000362183:H58N	H	-	1	0	GRIK3	37129228	1.000000	0.71417	0.997000	0.53966	0.496000	0.33645	6.631000	0.74277	2.749000	0.94314	0.650000	0.86243	CAT		0.502	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		69	19	1	0	2.69648e-15	0.00361	4.16915e-15	69	19				
HIVEP3	59269	broad.mit.edu	37	1	42049210	42049210	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:42049210C>A	ENST00000372583.1	-	4	2144	c.1259G>T	c.(1258-1260)gGc>gTc	p.G420V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G420V|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G420V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G420V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	420	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)			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)				CCCACACTTGCCAAAGATGAT	0.612																																							uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1258-1260)GGC>GTC		human immunodeficiency virus type I enhancer							121.0	105.0	110.0					1																	42049210		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049210C>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.1259G>T	1.37:g.42049210C>A	ENSP00000361664:p.Gly420Val					HIVEP3_uc001cha.3_Missense_Mutation_p.G420V|HIVEP3_uc001cgy.2_RNA	p.G420V	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	2472	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	420			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.1259G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727907	0.30593	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.02	4.1	0.47936	.	0.248868	0.28742	N	0.014285	T	0.71634	0.3363	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76263	-0.3023	10	0.87932	D	0	-8.8613	14.6287	0.68640	0.1467:0.8533:0.0:0.0	.	420;420	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	420	ENSP00000361665:G420V;ENSP00000361664:G420V;ENSP00000247584:G420V;ENSP00000410828:G420V	ENSP00000247584:G420V	G	-	2	0	HIVEP3	41821797	1.000000	0.71417	0.967000	0.41034	0.005000	0.04900	7.651000	0.83577	1.341000	0.45600	-0.310000	0.09108	GGC		0.612	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		21	5	1	0	7.45023e-12	0.010504	1.05458e-11	21	5				
YBX1	4904	broad.mit.edu	37	1	43166554	43166555	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:43166554_43166555CC>AA	ENST00000321358.7	+	7	982_983	c.843_844CC>AA	c.(841-846)taCCgc>taAAgc	p.281_282YR>*S		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	281					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACGTCGGTACCGCCGCAACTT	0.53																																							uc001chs.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(841-846)TACCGC>TAAAGC		nuclease sensitive element binding protein 1																																				SO:0001587	stop_gained	4904				CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:43166554_43166555CC>AA	BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	Exception_encountered	1.37:g.43166554_43166555delinsAA	ENSP00000361626:p.Y281_R282delins*S						p.281_282YR>*S	NM_004559	NP_004550	P67809	YBOX1_HUMAN			7	1014_1015	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	281_282					P16990|P16991|Q14972|Q15325|Q5FVF0	Nonsense_Mutation	DNP	ENST00000321358.7	37	c.843_844CC>AA	CCDS470.1																																																																																				0.530	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		7	36	0	0	0	0.004672	0	7	36				
SZT2	23334	broad.mit.edu	37	1	43891740	43891741	+	Nonsense_Mutation	DNP	TG	TG	AT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:43891740_43891741TG>AT	ENST00000562955.1	+	21	2961_2962	c.2961_2962TG>AT	c.(2959-2964)caTGag>caATag	p.987_988HE>Q*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.145_146HE>Q*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	987					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGCGTCCATGAGATCCCTTT	0.554																																							uc001cjk.1		NA																	0					0						c.(433-438)CATGAG>CAATAG		hypothetical protein LOC23334																																				SO:0001587	stop_gained	23334					peroxisome		g.chr1:43891740_43891741TG>AT	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	Exception_encountered	1.37:g.43891740_43891741delinsAT	ENSP00000457168:p.H987_E988delinsQ*					KIAA0467_uc009vws.1_Nonsense_Mutation_p.987_988HE>Q*	p.145_146HE>Q*	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			7	897_898	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	987_Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	DNP	ENST00000562955.1	37	c.435_436TG>AT	CCDS30694.2																																																																																				0.554	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		16	2	0	0	0	0.004672	0	16	2				
FAM151A	338094	broad.mit.edu	37	1	55075530	55075530	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:55075530C>T	ENST00000302250.2	-	8	1329	c.1169G>A	c.(1168-1170)gGc>gAc	p.G390D	ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	390						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGGATGTTGCCACTTGGAGT	0.602																																							uc001cxn.2		NA																	0					0						c.(1168-1170)GGC>GAC		hypothetical protein LOC338094							46.0	46.0	46.0					1																	55075530		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55075530C>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1169G>A	1.37:g.55075530C>T	ENSP00000306888:p.Gly390Asp					ACOT11_uc001cxj.1_3'UTR|ACOT11_uc001cxl.1_3'UTR|ACOT11_uc001cxm.1_Intron	p.G390D	NM_176782	NP_788954	Q8WW52	F151A_HUMAN			8	1301	-			390					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.1169G>A	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	1.168	-0.641950	0.03531	.	.	ENSG00000162391	ENST00000302250	T	0.09817	2.94	4.17	2.3	0.28687	.	0.387304	0.21374	N	0.075581	T	0.07818	0.0196	L	0.34521	1.04	0.09310	N	0.999992	B	0.20052	0.041	B	0.30105	0.111	T	0.41215	-0.9521	10	0.13470	T	0.59	-15.9859	6.537	0.22359	0.0:0.7832:0.0:0.2168	.	390	Q8WW52	F151A_HUMAN	D	390	ENSP00000306888:G390D	ENSP00000306888:G390D	G	-	2	0	FAM151A	54848118	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.329000	0.19698	0.705000	0.31890	0.655000	0.94253	GGC		0.602	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		3	18	0	0	0	0.004672	0	3	18				
LEPR	3953	broad.mit.edu	37	1	66075675	66075675	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:66075675G>T	ENST00000349533.6	+	13	1983	c.1798G>T	c.(1798-1800)Gtt>Ttt	p.V600F	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.V600F|LEPR_ENST00000371058.1_Missense_Mutation_p.V600F|LEPR_ENST00000371059.3_Missense_Mutation_p.V600F|LEPR_ENST00000371060.3_Missense_Mutation_p.V600F|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTCTCCCAGTTCCAGACTT	0.398																																							uc001dci.2		NA																	0				skin(1)	1						c.(1798-1800)GTT>TTT		leptin receptor isoform 1							189.0	183.0	185.0					1																	66075675		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66075675G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1798G>T	1.37:g.66075675G>T	ENSP00000330393:p.Val600Phe					LEPR_uc001dcg.2_Missense_Mutation_p.V600F|LEPR_uc001dch.2_Missense_Mutation_p.V600F|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.V600F|LEPR_uc001dck.2_Missense_Mutation_p.V600F	p.V600F	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	13	2000	+			600			Extracellular (Potential).|Fibronectin type-III 2.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1798G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152273	0.57259	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.49	5.49	0.81192	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.117112	0.56097	D	0.000025	T	0.72187	0.3429	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.75175	-0.3410	10	0.59425	D	0.04	-12.9954	19.3668	0.94466	0.0:0.0:1.0:0.0	.	600;600;600	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	F	600	ENSP00000340884:V600F;ENSP00000330393:V600F;ENSP00000360099:V600F;ENSP00000360098:V600F;ENSP00000360097:V600F	ENSP00000340884:V600F	V	+	1	0	LEPR	65848263	1.000000	0.71417	0.919000	0.36401	0.012000	0.07955	6.621000	0.74228	2.564000	0.86499	0.650000	0.86243	GTT		0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		45	14	1	0	1.81118e-26	0.00361	3.43883e-26	45	14				
INSL5	10022	broad.mit.edu	37	1	67263852	67263852	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:67263852C>A	ENST00000304526.2	-	2	286	c.252G>T	c.(250-252)aaG>aaT	p.K84N		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	84						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						AGGCATCCACCTTCGGAAGGT	0.458																																							uc001dcw.2		NA																	0					0						c.(250-252)AAG>AAT		insulin-like 5 precursor							112.0	110.0	111.0					1																	67263852		2203	4300	6503	SO:0001583	missense	10022					extracellular region	hormone activity	g.chr1:67263852C>A	AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.252G>T	1.37:g.67263852C>A	ENSP00000302724:p.Lys84Asn						p.K84N	NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN			2	287	-			84					Q3MIY4|Q5VYD8	Missense_Mutation	SNP	ENST00000304526.2	37	c.252G>T	CCDS634.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480701	0.44044	.	.	ENSG00000172410	ENST00000304526	T	0.64438	-0.1	4.64	1.64	0.23874	Insulin-like (3);	1.042900	0.07595	N	0.922746	T	0.47173	0.1431	M	0.71581	2.175	0.09310	N	1	P	0.44946	0.846	P	0.46629	0.522	T	0.46317	-0.9200	10	0.62326	D	0.03	-10.0147	2.7003	0.05146	0.1887:0.5254:0.1829:0.103	.	84	Q9Y5Q6	INSL5_HUMAN	N	84	ENSP00000302724:K84N	ENSP00000302724:K84N	K	-	3	2	INSL5	67036440	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	0.224000	0.17738	1.176000	0.42840	0.555000	0.69702	AAG		0.458	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	NM_005478		40	8	1	0	1.8453e-21	0.002522	3.29699e-21	40	8				
RPE65	6121	broad.mit.edu	37	1	68912412	68912412	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:68912412G>A	ENST00000262340.5	-	3	279	c.226C>T	c.(226-228)Cat>Tat	p.H76Y		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	76					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TATGTGACATGTCCTTCTTTA	0.502																																							uc001dei.1		NA																	0				ovary(1)	1						c.(226-228)CAT>TAT		retinal pigment epithelium-specific protein							161.0	124.0	136.0					1																	68912412		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68912412G>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.226C>T	1.37:g.68912412G>A	ENSP00000262340:p.His76Tyr						p.H76Y	NM_000329	NP_000320	Q16518	RPE65_HUMAN			3	280	-			76					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.226C>T	CCDS643.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552436	0.65311	.	.	ENSG00000116745	ENST00000262340	D	0.94793	-3.52	5.9	5.9	0.94986	.	0.158927	0.56097	D	0.000028	D	0.93357	0.7882	M	0.67953	2.075	0.51012	D	0.999901	B	0.28760	0.221	B	0.35240	0.198	D	0.91658	0.5340	10	0.72032	D	0.01	-1.2675	19.8808	0.96899	0.0:0.0:1.0:0.0	.	76	Q16518	RPE65_HUMAN	Y	76	ENSP00000262340:H76Y	ENSP00000262340:H76Y	H	-	1	0	RPE65	68685000	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.225000	0.72271	2.793000	0.96121	0.591000	0.81541	CAT		0.502	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		15	2	0	0	0	0.00245	0	15	2				
LRRC7	57554	broad.mit.edu	37	1	70504652	70504653	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:70504652_70504653GG>CT	ENST00000035383.5	+	19	3061_3062	c.3031_3032GG>CT	c.(3031-3033)GGa>CTa	p.G1011L	LRRC7_ENST00000415775.2_Missense_Mutation_p.G295L|LRRC7_ENST00000310961.5_Missense_Mutation_p.G1016L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1011						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCTCACCTACGGAAGTAGTAAG	0.47																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3031-3033)GGA>CTA		leucine rich repeat containing 7																																				SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504652_70504653GG>CT		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	Exception_encountered	1.37:g.70504652_70504653delinsCT	ENSP00000035383:p.Gly1011Leu					LRRC7_uc009wbg.2_Missense_Mutation_p.G295L|LRRC7_uc001deq.2_Missense_Mutation_p.G252L	p.G1011L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3061_3062	+			1011					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	DNP	ENST00000035383.5	37	c.3031_3032GG>CT	CCDS645.1																																																																																				0.470	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		12	4	0	0	0	0.004672	0	12	4				
ERICH3	127254	broad.mit.edu	37	1	75097512	75097512	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:75097512G>T	ENST00000326665.5	-	7	922	c.704C>A	c.(703-705)cCt>cAt	p.P235H	C1orf173_ENST00000420661.2_Missense_Mutation_p.P38H	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		235										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						AAGTGGAGGAGGAATAGGCAT	0.418																																							uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(703-705)CCT>CAT		hypothetical protein LOC127254							209.0	184.0	192.0					1																	75097512		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75097512G>T																												ENST00000326665.5:c.704C>A	1.37:g.75097512G>T	ENSP00000322609:p.Pro235His					C1orf173_uc001dgi.3_Missense_Mutation_p.P29H	p.P235H	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			7	923	-			235					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.704C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147594	0.37923	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.35236	1.71;1.32	5.39	4.47	0.54385	.	.	.	.	.	T	0.50394	0.1613	M	0.72118	2.19	0.45477	D	0.998442	D;D	0.89917	0.999;1.0	D;D	0.75484	0.943;0.986	T	0.59252	-0.7489	9	0.87932	D	0	-6.4298	15.5672	0.76303	0.0:0.1465:0.8535:0.0	.	38;235	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	H	235;38	ENSP00000322609:P235H;ENSP00000398581:P38H	ENSP00000322609:P235H	P	-	2	0	C1orf173	74870100	1.000000	0.71417	0.903000	0.35520	0.003000	0.03518	3.219000	0.51200	1.269000	0.44280	0.650000	0.86243	CCT		0.418	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			25	10	1	0	5.45024e-15	0.00333	8.3633e-15	25	10				
SLC44A5	204962	broad.mit.edu	37	1	75677192	75677192	+	Missense_Mutation	SNP	C	C	T	rs188915156		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:75677192C>T	ENST00000370855.5	-	23	2121	c.2008G>A	c.(2008-2010)Gtc>Atc	p.V670I	SLC44A5_ENST00000370859.3_Missense_Mutation_p.V670I|SLC44A5_ENST00000535611.1_Missense_Mutation_p.V540I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	670					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATTGCATAGACGCTGAAGAAC	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		20182	0.001		0.0	False		,,,				2504	0.0						uc001dgu.2		NA																	0				ovary(2)|skin(2)	4						c.(2008-2010)GTC>ATC		solute carrier family 44, member 5 isoform A		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	147.0	127.0	134.0		2008,2008	5.5	1.0	1		134	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SLC44A5	NM_001130058.1,NM_152697.4	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	670/718,670/720	75677192	2,13004	2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75677192C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.2008G>A	1.37:g.75677192C>T	ENSP00000359892:p.Val670Ile					SLC44A5_uc001dgt.2_Missense_Mutation_p.V670I|SLC44A5_uc001dgs.2_Missense_Mutation_p.V628I|SLC44A5_uc001dgr.2_Missense_Mutation_p.V628I|SLC44A5_uc010oqz.1_Missense_Mutation_p.V709I|SLC44A5_uc010ora.1_Missense_Mutation_p.V664I|SLC44A5_uc010orb.1_Missense_Mutation_p.V540I	p.V670I	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			23	2152	-			670			Helical; (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.2008G>A	CCDS667.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	34	5.406720	0.96051	0.0	2.33E-4	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.26223	1.75;1.75;1.75	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D	0.64830	0.973;0.994;0.973;0.967;0.992	P;D;P;P;P	0.64595	0.751;0.927;0.879;0.534;0.88	T	0.07501	-1.0769	10	0.36615	T	0.2	-13.1579	19.6745	0.95926	0.0:1.0:0.0:0.0	.	664;709;670;670;709	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	I	670;709;670;540;663	ENSP00000359896:V670I;ENSP00000359892:V670I;ENSP00000443090:V540I	ENSP00000359892:V670I	V	-	1	0	SLC44A5	75449780	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.784000	0.68990	2.726000	0.93360	0.591000	0.81541	GTC		0.403	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		11	5	0	0	0	0.001368	0	11	5				
ASB17	127247	broad.mit.edu	37	1	76397963	76397963	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:76397963G>T	ENST00000284142.6	-	1	153	c.14C>A	c.(13-15)aCt>aAt	p.T5N		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	5					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACATAATTTAGTAGATTTACT	0.363																																							uc001dhe.1		NA																	0				ovary(1)	1						c.(13-15)ACT>AAT		ankyrin repeat and SOCS box-containing 17							46.0	48.0	48.0					1																	76397963		2197	4297	6494	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397963G>T	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.14C>A	1.37:g.76397963G>T	ENSP00000284142:p.Thr5Asn					ASB17_uc001dhf.1_RNA	p.T5N	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			1	154	-			5					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.14C>A	CCDS671.1	.	.	.	.	.	.	.	.	.	.	G	4.580	0.107774	0.08780	.	.	ENSG00000154007	ENST00000284142	T	0.31510	1.49	5.98	4.12	0.48240	.	0.357629	0.24314	N	0.039605	T	0.05273	0.0140	N	0.08118	0	0.19775	N	0.999953	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	10	0.37606	T	0.19	.	7.7986	0.29162	0.081:0.0:0.7579:0.1611	.	5	Q8WXJ9	ASB17_HUMAN	N	5	ENSP00000284142:T5N	ENSP00000284142:T5N	T	-	2	0	ASB17	76170551	0.889000	0.30405	0.990000	0.47175	0.141000	0.21300	0.415000	0.21181	0.881000	0.35993	-0.122000	0.15005	ACT		0.363	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		14	7	1	0	4.36969e-10	0.001855	5.78294e-10	14	7				
COL24A1	255631	broad.mit.edu	37	1	86591275	86591275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:86591275G>T	ENST00000370571.2	-	3	1110	c.744C>A	c.(742-744)taC>taA	p.Y248*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.Y248*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	248					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTCAGGTTGGTATTTGTCTG	0.428																																							uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(742-744)TAC>TAA		collagen, type XXIV, alpha 1 precursor							84.0	84.0	84.0					1																	86591275		2006	4175	6181	SO:0001587	stop_gained	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591275G>T	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.744C>A	1.37:g.86591275G>T	ENSP00000359603:p.Tyr248*					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Nonsense_Mutation_p.Y248*	p.Y248*	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	786	-			248					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Nonsense_Mutation	SNP	ENST00000370571.2	37	c.744C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	6.752	0.507656	0.12883	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	4.11	-1.85	0.07784	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	5.0403	0.14456	0.3545:0.2641:0.3814:0.0	.	.	.	.	X	248	.	ENSP00000359603:Y248X	Y	-	3	2	COL24A1	86363863	0.996000	0.38824	0.000000	0.03702	0.039000	0.13416	0.245000	0.18142	-0.920000	0.03799	0.563000	0.77884	TAC		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		35	7	1	0	3.76114e-14	0.004289	5.67959e-14	35	7				
COL24A1	255631	broad.mit.edu	37	1	86591289	86591289	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:86591289G>T	ENST00000370571.2	-	3	1096	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q244K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	244					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGTCTGCTTGGCGACACTGC	0.408																																							uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(730-732)CAA>AAA		collagen, type XXIV, alpha 1 precursor							77.0	77.0	77.0					1																	86591289		2007	4177	6184	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591289G>T	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.730C>A	1.37:g.86591289G>T	ENSP00000359603:p.Gln244Lys					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Q244K	p.Q244K	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	772	-			244					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.730C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	1.653	-0.513375	0.04200	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.16324	2.35;2.35	5.69	4.75	0.60458	.	.	.	.	.	T	0.05273	0.0140	L	0.39898	1.24	0.09310	N	1	B;B	0.24426	0.103;0.063	B;B	0.25140	0.058;0.016	T	0.35301	-0.9794	9	0.08381	T	0.77	.	14.8307	0.70146	0.0:0.0:0.8551:0.1449	.	244;244	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	244	ENSP00000359603:Q244K;ENSP00000392531:Q244K	ENSP00000359603:Q244K	Q	-	1	0	COL24A1	86363877	0.019000	0.18553	0.015000	0.15790	0.319000	0.28217	1.818000	0.39012	1.343000	0.45638	0.563000	0.77884	CAA		0.408	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		28	7	1	0	1.16021e-09	0.007291	1.51156e-09	28	7				
CLCA4	22802	broad.mit.edu	37	1	87036808	87036808	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:87036808C>A	ENST00000370563.3	+	8	1273	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	CLCA4_ENST00000496322.1_3'UTR|CLCA4_ENST00000263723.5_Missense_Mutation_p.L124M|RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	411	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGTACTGCTGCTGACTGATGG	0.433																																							uc009wcs.2		NA																	0				ovary(2)	2						c.(1231-1233)CTG>ATG		chloride channel accessory 4							267.0	255.0	259.0					1																	87036808		1973	4150	6123	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87036808C>A	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1231C>A	1.37:g.87036808C>A	ENSP00000359594:p.Leu411Met					CLCA4_uc009wct.2_Missense_Mutation_p.L174M|CLCA4_uc009wcu.2_Missense_Mutation_p.L231M	p.L411M	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	8	1275	+		Lung NSC(277;0.238)	411			VWFA.		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1231C>A	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308855	0.60305	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.15952	2.38;2.38	6.17	5.26	0.73747	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000007	T	0.27419	0.0673	M	0.72479	2.2	0.33217	D	0.554125	D	0.67145	0.996	D	0.76575	0.988	T	0.26985	-1.0087	10	0.87932	D	0	-3.803	10.5774	0.45235	0.0:0.8443:0.0:0.1557	.	411	Q14CN2	CLCA4_HUMAN	M	411;124	ENSP00000359594:L411M;ENSP00000263723:L124M	ENSP00000263723:L124M	L	+	1	2	CLCA4	86809396	0.994000	0.37717	1.000000	0.80357	0.612000	0.37316	0.508000	0.22692	1.598000	0.50083	0.655000	0.94253	CTG		0.433	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		50	16	1	0	5.18031e-10	0.00361	6.84937e-10	50	16				
CCDC18	343099	broad.mit.edu	37	1	93711761	93711761	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:93711761G>T	ENST00000343253.7	+	22	3580	c.3078G>T	c.(3076-3078)caG>caT	p.Q1026H	CCDC18_ENST00000401026.3_Splice_Site_p.Q1027H|CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000557479.1_Splice_Site_p.Q1145H|CCDC18_ENST00000338949.4_Splice_Site_p.Q782H			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1026										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAGCAGCTCAGGTTGATTTTT	0.363																																							uc001dpq.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3433-3435)CAG>CAT		sarcoma antigen NY-SAR-41							106.0	107.0	107.0					1																	93711761		1803	4070	5873	SO:0001630	splice_region_variant	343099							g.chr1:93711761G>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3078+1G>T	1.37:g.93711761G>T						CCDC18_uc009wdl.1_Missense_Mutation_p.Q662H	p.Q1145H	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	22	3603	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	1026			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.3435G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.493635|3.493635	0.64186|0.64186	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T|.	0.79033|.	-1.23;-1.23|.	5.73|5.73	1.01|1.01	0.19927|0.19927	.|.	0.132590|.	0.51477|.	D|.	0.000082|.	T|T	0.44095|0.44095	0.1277|0.1277	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.37502|0.37502	-0.9703|-0.9703	10|5	0.72032|.	D|.	0.01|.	.|.	9.8572|9.8572	0.41092|0.41092	0.423:0.0:0.577:0.0|0.423:0.0:0.577:0.0	.|.	1026;1145|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	H|M	1026;1027;1145;782;702|1080	ENSP00000383808:Q1027H;ENSP00000451099:Q1145H|.	ENSP00000344380:Q782H|.	Q|R	+|+	3|2	2|0	CCDC18|CCDC18	93484349|93484349	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.904000|0.904000	0.53231|0.53231	1.722000|1.722000	0.38042|0.38042	0.262000|0.262000	0.21774|0.21774	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.363	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Missense_Mutation	31	12	1	0	1.16021e-09	0.007291	1.51156e-09	31	12				
PLPPR4	9890	broad.mit.edu	37	1	99767365	99767365	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:99767365G>T	ENST00000370185.3	+	6	1375	c.878G>T	c.(877-879)tGc>tTc	p.C293F	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.C135F	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		293					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GGAATAATCTGCGGGCTAACA	0.378																																							uc001dse.2		NA																	0				ovary(3)	3						c.(877-879)TGC>TTC		plasticity related gene 1							143.0	138.0	139.0					1																	99767365		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99767365G>T																												ENST00000370185.3:c.878G>T	1.37:g.99767365G>T	ENSP00000359204:p.Cys293Phe					LPPR4_uc010oue.1_Intron	p.C293F	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	6	984	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	293			Helical; (Potential).		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.878G>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429770	0.83776	.	.	ENSG00000117600	ENST00000370185;ENST00000263178;ENST00000370184	T;T	0.73897	-0.79;-0.79	4.92	4.92	0.64577	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.098404	0.64402	D	0.000001	D	0.83686	0.5308	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.85590	0.1245	10	0.62326	D	0.03	-14.9022	18.1104	0.89533	0.0:0.0:1.0:0.0	.	293	Q7Z2D5	LPPR4_HUMAN	F	293;293;135	ENSP00000359204:C293F;ENSP00000359203:C135F	ENSP00000263178:C293F	C	+	2	0	RP4-788L13.1	99539953	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.660000	0.83776	2.263000	0.75096	0.491000	0.48974	TGC		0.378	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			30	8	1	0	1.88708e-17	0.008361	3.11741e-17	30	8				
COL11A1	1301	broad.mit.edu	37	1	103347291	103347291	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:103347291G>T	ENST00000370096.3	-	65	5314	c.5002C>A	c.(5002-5004)Cca>Aca	p.P1668T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1552T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1629T|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1680T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1668	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)			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)		CAACTTCCTGGTTTCTCCTTT	0.328																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(5002-5004)CCA>ACA		alpha 1 type XI collagen isoform A							100.0	91.0	94.0					1																	103347291		2202	4300	6502	SO:0001583	missense	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.chr1:103347291G>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.5002C>A	1.37:g.103347291G>T	ENSP00000359114:p.Pro1668Thr					COL11A1_uc001duk.2_Missense_Mutation_p.P864T|COL11A1_uc001dum.2_Missense_Mutation_p.P1680T|COL11A1_uc001dun.2_Missense_Mutation_p.P1629T|COL11A1_uc009weh.2_Missense_Mutation_p.P1552T	p.P1668T	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	65	5320	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1668			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.5002C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383458	0.82792	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	4.9	4.9	0.64082	Fibrillar collagen, C-terminal (3);	0.126690	0.56097	D	0.000040	D	0.82907	0.5139	M	0.80422	2.495	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	0.91635	0.999;0.998;0.998;0.999;0.998	D	0.85744	0.1339	10	0.87932	D	0	.	18.248	0.89993	0.0:0.0:1.0:0.0	.	1552;1629;1680;1668;888	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	T	1668;1680;1629;888;1552	ENSP00000359114:P1668T;ENSP00000351163:P1680T;ENSP00000302551:P1629T;ENSP00000426533:P1552T	ENSP00000302551:P1629T	P	-	1	0	COL11A1	103119879	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.805000	0.99149	2.322000	0.78497	0.447000	0.29281	CCA		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		17	4	1	0	1.00905e-13	0.008871	1.49675e-13	17	4				
NTNG1	22854	broad.mit.edu	37	1	107691317	107691317	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:107691317G>A	ENST00000370068.1	+	2	948	c.102G>A	c.(100-102)aaG>aaA	p.K34K	NTNG1_ENST00000370067.1_Silent_p.K34K|NTNG1_ENST00000542803.1_Silent_p.K34K|NTNG1_ENST00000370074.4_Silent_p.K34K|NTNG1_ENST00000370061.3_Silent_p.K34K|NTNG1_ENST00000370066.1_Silent_p.K34K|NTNG1_ENST00000370065.1_Silent_p.K34K|NTNG1_ENST00000370071.2_Silent_p.K34K|NTNG1_ENST00000370072.3_Silent_p.K34K|NTNG1_ENST00000370070.2_Silent_p.K34K|NTNG1_ENST00000370073.2_Silent_p.K34K			Q9Y2I2	NTNG1_HUMAN	netrin G1	34					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTTGTGTAAGACTCAGATTT	0.458																																							uc001dvh.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(100-102)AAG>AAA		netrin G1 isoform 1							185.0	174.0	178.0					1																	107691317		2203	4300	6503	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107691317G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.102G>A	1.37:g.107691317G>A						NTNG1_uc001dvf.3_Silent_p.K34K|NTNG1_uc010out.1_Silent_p.K34K|NTNG1_uc001dvc.3_Silent_p.K34K|NTNG1_uc001dvd.1_Silent_p.K34K	p.K34K	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	2	820	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	34					Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.102G>A	CCDS44180.1																																																																																				0.458	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		42	13	0	0	0	0.002522	0	42	13				
GPSM2	29899	broad.mit.edu	37	1	109428168	109428168	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:109428168G>T	ENST00000406462.2	+	3	797	c.24G>T	c.(22-24)atG>atT	p.M8I	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.M8I			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	8					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TGATAAGCATGAGAGAAGACC	0.299																																							uc010ovc.1		NA																	0				central_nervous_system(1)	1						c.(22-24)ATG>ATT		LGN protein							125.0	131.0	129.0					1																	109428168		2203	4296	6499	SO:0001583	missense	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109428168G>T	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.24G>T	1.37:g.109428168G>T	ENSP00000385510:p.Met8Ile					AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.M8I|GPSM2_uc010ove.1_Missense_Mutation_p.M8I	p.M8I	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	2	520	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	8					Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	c.24G>T	CCDS792.2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291003	0.59976	.	.	ENSG00000121957	ENST00000406462;ENST00000435987;ENST00000264126;ENST00000435475;ENST00000446797	D;D;D	0.93019	-3.15;-2.34;-3.15	5.62	5.62	0.85841	.	0.064020	0.64402	D	0.000008	D	0.90410	0.6998	N	0.14661	0.345	0.38153	D	0.93879	P	0.45126	0.851	P	0.58391	0.838	D	0.89386	0.3685	10	0.25751	T	0.34	-12.0492	18.2007	0.89836	0.0:0.0:1.0:0.0	.	8	P81274	GPSM2_HUMAN	I	8	ENSP00000385510:M8I;ENSP00000408664:M8I;ENSP00000264126:M8I	ENSP00000264126:M8I	M	+	3	0	GPSM2	109229691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.724000	0.74747	2.801000	0.96364	0.650000	0.86243	ATG		0.299	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		30	10	1	0	1.66425e-11	0.004878	2.33487e-11	30	10				
AHCYL1	10768	broad.mit.edu	37	1	110551754	110551754	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:110551754C>T	ENST00000369799.5	+	2	586	c.219C>T	c.(217-219)gaC>gaT	p.D73D	AHCYL1_ENST00000393614.4_Silent_p.D26D|AHCYL1_ENST00000359172.3_Silent_p.D26D|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	73	PEST. {ECO:0000250}.				mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CCTCCACTGACAGCTACAGTT	0.468																																							uc001dyx.2		NA																	0				ovary(1)	1						c.(217-219)GAC>GAT		S-adenosylhomocysteine hydrolase-like 1							144.0	116.0	125.0					1																	110551754		2203	4300	6503	SO:0001819	synonymous_variant	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110551754C>T	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.219C>T	1.37:g.110551754C>T						AHCYL1_uc010ovw.1_Silent_p.D26D|AHCYL1_uc001dyy.2_Silent_p.D26D|AHCYL1_uc010ovx.1_Silent_p.D26D	p.D73D	NM_006621	NP_006612	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	2	586	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	73			PEST (By similarity).		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Silent	SNP	ENST00000369799.5	37	c.219C>T	CCDS818.1																																																																																				0.468	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			21	3	0	0	0	0.001882	0	21	3				
SPAG17	200162	broad.mit.edu	37	1	118526493	118526493	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:118526493G>T	ENST00000336338.5	-	42	5878	c.5813C>A	c.(5812-5814)aCa>aAa	p.T1938K	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1938						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTTTCTTTGTAAAAGAAGG	0.328																																							uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(5812-5814)ACA>AAA		sperm associated antigen 17							151.0	142.0	145.0					1																	118526493		2202	4300	6502	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118526493G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5813C>A	1.37:g.118526493G>T	ENSP00000337804:p.Thr1938Lys						p.T1938K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	42	5881	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1938					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5813C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	6.970	0.548922	0.13312	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.16743	2.32	4.9	0.554	0.17241	.	1.064770	0.07305	N	0.874768	T	0.06917	0.0176	L	0.57536	1.79	0.09310	N	1	B	0.32829	0.386	B	0.36766	0.232	T	0.42649	-0.9439	10	0.41790	T	0.15	.	3.8191	0.08828	0.271:0.0:0.5617:0.1673	.	1938	Q6Q759	SPG17_HUMAN	K	1938;418	ENSP00000337804:T1938K	ENSP00000337804:T1938K	T	-	2	0	SPAG17	118328016	0.075000	0.21258	0.105000	0.21289	0.313000	0.28021	0.079000	0.14782	0.324000	0.23333	0.655000	0.94253	ACA		0.328	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		11	3	1	0	0.000151284	0.001855	0.000166741	11	3				
BCL9	607	broad.mit.edu	37	1	147090735	147090735	+	Silent	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:147090735A>C	ENST00000234739.3	+	8	1514	c.774A>C	c.(772-774)ccA>ccC	p.P258P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	258	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCCAACTCCACCCATTCCGG	0.592			T	"""IGH@, IGL@"""	B-ALL																																		uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(772-774)CCA>CCC		B-cell CLL/lymphoma 9							69.0	71.0	70.0					1																	147090735		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090735A>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.774A>C	1.37:g.147090735A>C						BCL9_uc010ozr.1_Silent_p.P184P	p.P258P	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	1514	+	all_hematologic(923;0.115)		258			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.774A>C	CCDS30833.1																																																																																				0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		14	85	0	0	0	0.00278	0	14	85				
SV2A	9900	broad.mit.edu	37	1	149884986	149884986	+	Missense_Mutation	SNP	C	C	A	rs200722955		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:149884986C>A	ENST00000369146.3	-	2	897	c.407G>T	c.(406-408)cGg>cTg	p.R136L	SV2A_ENST00000369145.1_Missense_Mutation_p.R136L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	136					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGCCTCCCCCCGGCCCCCAGG	0.652																																							uc001etg.2		NA																	0				ovary(6)|pancreas(1)	7						c.(406-408)CGG>CTG		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						77.0	81.0	80.0					1																	149884986		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884986C>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.407G>T	1.37:g.149884986C>A	ENSP00000358142:p.Arg136Leu					SV2A_uc001eth.2_Missense_Mutation_p.R136L	p.R136L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	898	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		136			Cytoplasmic (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.407G>T	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463202	0.43736	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.68479	0.67;-0.33	5.07	5.07	0.68467	.	0.377643	0.25430	N	0.030730	T	0.31295	0.0792	N	0.08118	0	0.35487	D	0.798627	B	0.20261	0.043	B	0.18263	0.021	T	0.15896	-1.0421	10	0.36615	T	0.2	-20.7239	13.8086	0.63248	0.0:1.0:0.0:0.0	.	136	Q7L0J3	SV2A_HUMAN	L	136	ENSP00000358142:R136L;ENSP00000358141:R136L	ENSP00000358141:R136L	R	-	2	0	SV2A	148151610	0.246000	0.23909	0.998000	0.56505	0.990000	0.78478	1.364000	0.34171	2.635000	0.89317	0.557000	0.71058	CGG		0.652	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			32	33	1	0	3.99451e-17	0.009535	6.52314e-17	32	33				
HORMAD1	84072	broad.mit.edu	37	1	150679041	150679041	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:150679041C>T	ENST00000361824.2	-	10	897	c.792G>A	c.(790-792)gaG>gaA	p.E264E	HORMAD1_ENST00000322343.7_Silent_p.E257E|HORMAD1_ENST00000368995.4_Silent_p.E184E|HORMAD1_ENST00000368993.2_Silent_p.E264E	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	264				E -> G (in Ref. 1; CAG38536). {ECO:0000305}.	blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGTATAATGCTCCTGTTCAT	0.299																																							uc001evk.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(790-792)GAG>GAA		HORMA domain containing 1							145.0	138.0	141.0					1																	150679041		2203	4299	6502	SO:0001819	synonymous_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150679041C>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.792G>A	1.37:g.150679041C>T						HORMAD1_uc001evl.1_Silent_p.E257E|HORMAD1_uc001evm.1_Silent_p.E184E	p.E264E	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		10	898	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		264	E -> G (in Ref. 1; CAG38536).				A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Silent	SNP	ENST00000361824.2	37	c.792G>A	CCDS967.1																																																																																				0.299	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		21	41	0	0	0	0.001882	0	21	41				
PSMD4	5710	broad.mit.edu	37	1	151234661	151234661	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:151234661G>C	ENST00000368884.3	+	2	131	c.51G>C	c.(49-51)cgG>cgC	p.R17R	PSMD4_ENST00000368881.4_Silent_p.R17R	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	17	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATATGCGGAATGGAGACT	0.493																																							uc001exl.2		NA																	0					0						c.(49-51)CGG>CGC		proteasome 26S non-ATPase subunit 4							109.0	101.0	104.0					1																	151234661		2203	4300	6503	SO:0001819	synonymous_variant	5710				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|DNA repair|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 transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151234661G>C	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.51G>C	1.37:g.151234661G>C						PSMD4_uc001exn.2_Silent_p.R17R	p.R17R	NM_002810	NP_002801	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	113	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		17			VWFA.		D3DV16|Q5VWC5|Q9NS92	Silent	SNP	ENST00000368884.3	37	c.51G>C	CCDS991.1																																																																																				0.493	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		39	50	0	0	0	0.007835	0	39	50				
RPTN	126638	broad.mit.edu	37	1	152128814	152128814	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:152128814C>T	ENST00000316073.3	-	3	825	c.761G>A	c.(760-762)gGa>gAa	p.G254E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	254	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGAGGCTTGTCCAAGTGTTTC	0.428																																							uc001ezs.1		NA																	0					0						c.(760-762)GGA>GAA		repetin							320.0	268.0	284.0					1																	152128814		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128814C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.761G>A	1.37:g.152128814C>T	ENSP00000317895:p.Gly254Glu						p.G254E	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	826	-			254			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.761G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664613	0.29604	.	.	ENSG00000215853	ENST00000316073	T	0.13089	2.62	3.72	2.77	0.32553	.	.	.	.	.	T	0.07458	0.0188	L	0.57536	1.79	0.09310	N	1	D	0.59767	0.986	P	0.47206	0.541	T	0.20338	-1.0278	9	0.27785	T	0.31	0.0722	9.0478	0.36358	0.0:0.7737:0.2263:0.0	.	254	Q6XPR3	RPTN_HUMAN	E	254	ENSP00000317895:G254E	ENSP00000317895:G254E	G	-	2	0	RPTN	150395438	0.556000	0.26538	0.005000	0.12908	0.053000	0.15095	0.697000	0.25556	0.870000	0.35726	0.442000	0.29010	GGA		0.428	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		88	145	0	0	0	0.00361	0	88	145				
HRNR	388697	broad.mit.edu	37	1	152192465	152192465	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:152192465C>T	ENST00000368801.2	-	3	1715	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	547					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)			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)			AGACTCATGTCGGCCACGGCT	0.592																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(1639-1641)CGA>CAA		hornerin							145.0	154.0	151.0					1																	152192465		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192465C>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.1640G>A	1.37:g.152192465C>T	ENSP00000357791:p.Arg547Gln						p.R547Q	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1716	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		547			5.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1640G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	7.729	0.698893	0.15106	.	.	ENSG00000197915	ENST00000368801	T	0.04083	3.71	2.72	-1.72	0.08107	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44019	-0.9355	9	0.12766	T	0.61	.	7.761	0.28953	0.0:0.5215:0.0:0.4785	.	547	Q86YZ3	HORN_HUMAN	Q	547	ENSP00000357791:R547Q	ENSP00000357791:R547Q	R	-	2	0	HRNR	150459089	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.926000	0.03988	-1.008000	0.03404	-1.418000	0.01112	CGA		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		115	110	0	0	0	0.00361	0	115	110				
FLG	2312	broad.mit.edu	37	1	152284714	152284714	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:152284714G>C	ENST00000368799.1	-	3	2683	c.2648C>G	c.(2647-2649)tCc>tGc	p.S883C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	883	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)			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)			CTGCCCACGGGAGGCATCAGA	0.567									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2647-2649)TCC>TGC		filaggrin							339.0	337.0	338.0					1																	152284714		2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284714G>C	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.2648C>G	1.37:g.152284714G>C	ENSP00000357789:p.Ser883Cys					uc001ezv.2_5'Flank	p.S883C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2684	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		883			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2648C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	2.692	-0.272974	0.05716	.	.	ENSG00000143631	ENST00000368799	T	0.02498	4.27	2.54	0.421	0.16451	.	.	.	.	.	T	0.01523	0.0049	M	0.80982	2.52	0.09310	N	1	D	0.62365	0.991	B	0.40329	0.326	T	0.40534	-0.9558	9	0.62326	D	0.03	.	3.3978	0.07312	0.1709:0.2724:0.5567:0.0	.	883	P20930	FILA_HUMAN	C	883	ENSP00000357789:S883C	ENSP00000357789:S883C	S	-	2	0	FLG	150551338	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.086000	0.11233	-0.122000	0.11766	0.479000	0.44913	TCC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		167	320	0	0	0	0.00361	0	167	320				
SPRR1A	6698	broad.mit.edu	37	1	152957793	152957793	+	Silent	SNP	C	C	A	rs200895784		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:152957793C>A	ENST00000368762.1	+	1	87	c.87C>A	c.(85-87)ccC>ccA	p.P29P	SPRR1A_ENST00000307122.2_Silent_p.P29P			P35321	SPR1A_HUMAN	small proline-rich protein 1A	29	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTCCACCCCAGGAACCAT	0.602																																							uc009wnu.1		NA																	0					0						c.(85-87)CCC>CCA		small proline-rich protein 1A							132.0	130.0	131.0					1																	152957793		2203	4300	6503	SO:0001819	synonymous_variant	6698				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152957793C>A	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.87C>A	1.37:g.152957793C>A						SPRR1A_uc001faw.2_Silent_p.P29P	p.P29P	NM_005987	NP_005978	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	165	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			2.|2 X 12 AA approximate repeats.		B1AN47|D3DV31|Q2M303|Q9UDG4	Silent	SNP	ENST00000368762.1	37	c.87C>A	CCDS1032.1																																																																																				0.602	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987		64	61	1	0	3.07184e-27	0.00361	5.91922e-27	64	61				
SPRR2D	6703	broad.mit.edu	37	1	153012687	153012687	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:153012687G>T	ENST00000368757.1	-	2	416	c.136C>A	c.(136-138)Cca>Aca	p.P46T	SPRR2D_ENST00000368758.3_Missense_Mutation_p.P46T|SPRR2D_ENST00000368756.1_Missense_Mutation_p.P46T|SPRR2D_ENST00000360379.3_Missense_Mutation_p.P46T			P22532	SPR2D_HUMAN	small proline-rich protein 2D	46	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGAGGTGGGCAGGGCTGT	0.602																																							uc001fbb.2		NA																	0					0						c.(136-138)CCA>ACA		small proline-rich protein 2D							186.0	166.0	173.0					1																	153012687		2203	4297	6500	SO:0001583	missense	6703				keratinization	cornified envelope|cytoplasm		g.chr1:153012687G>T	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.136C>A	1.37:g.153012687G>T	ENSP00000357746:p.Pro46Thr					SPRR2D_uc009wnz.2_RNA	p.P46T	NM_006945	NP_008876	P22532	SPR2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	196	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		46			3.|3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].		A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Missense_Mutation	SNP	ENST00000368757.1	37	c.136C>A	CCDS30864.1	.	.	.	.	.	.	.	.	.	.	G	3.712	-0.059299	0.07317	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	3.78	1.77	0.24775	.	0.233302	0.22314	N	0.061682	T	0.15349	0.0370	.	.	.	0.09310	N	1	B	0.30281	0.275	B	0.25405	0.06	T	0.10109	-1.0644	9	0.87932	D	0	.	5.8827	0.18864	0.1198:0.2002:0.6801:0.0	.	46	P22532	SPR2D_HUMAN	T	46	ENSP00000353542:P46T;ENSP00000357747:P46T;ENSP00000357746:P46T;ENSP00000357745:P46T	ENSP00000353542:P46T	P	-	1	0	SPRR2D	151279311	0.385000	0.25172	0.087000	0.20705	0.678000	0.39670	1.908000	0.39907	0.686000	0.31488	0.449000	0.29647	CCA		0.602	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			129	121	1	0	2.51586e-40	0.00361	5.2377e-40	129	121				
SPRR2B	6701	broad.mit.edu	37	1	153043211	153043211	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:153043211G>T	ENST00000368755.2	-	1	105	c.105C>A	c.(103-105)ccC>ccA	p.P35P	SPRR2B_ENST00000368752.4_Silent_p.P35P|SPRR2B_ENST00000341611.2_Silent_p.P35P			P35325	SPR2B_HUMAN	small proline-rich protein 2B	35	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGTGGGCAGGGCTCAGGGC	0.617																																							uc001fbg.2		NA																	0					0						c.(103-105)CCC>CCA		small proline-rich protein 2B							58.0	55.0	56.0					1																	153043211		2202	4278	6480	SO:0001819	synonymous_variant	6701				keratinization	cornified envelope|cytoplasm		g.chr1:153043211G>T	AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.105C>A	1.37:g.153043211G>T						SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.P35P	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	168	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		35			3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.|2.		Q5T528	Silent	SNP	ENST00000368755.2	37	c.105C>A	CCDS30865.1																																																																																				0.617	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038905.2			29	44	1	0	3.28156e-27	0.00361	6.31478e-27	29	44				
ILF2	3608	broad.mit.edu	37	1	153640497	153640497	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:153640497C>A	ENST00000361891.4	-	5	395	c.270G>T	c.(268-270)gtG>gtT	p.V90V	ILF2_ENST00000368681.1_Silent_p.V90V	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	90	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCTGGAGCCACAATCAGAT	0.338																																							uc001fcr.2		NA																	0					0						c.(268-270)GTG>GTT		interleukin enhancer binding factor 2							94.0	95.0	95.0					1																	153640497		2203	4300	6503	SO:0001819	synonymous_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153640497C>A	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.270G>T	1.37:g.153640497C>A						ILF2_uc010pdy.1_Silent_p.V52V|ILF2_uc009wok.2_Silent_p.V90V|ILF2_uc009wol.1_Silent_p.V52V	p.V90V	NM_004515	NP_004506	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	351	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		90					A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Silent	SNP	ENST00000361891.4	37	c.270G>T	CCDS1050.1																																																																																				0.338	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		11	25	1	0	7.03913e-09	0.001368	8.96576e-09	11	25				
GATAD2B	57459	broad.mit.edu	37	1	153790011	153790011	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:153790011C>A	ENST00000368655.4	-	6	980	c.737G>T	c.(736-738)aGt>aTt	p.S246I		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	246					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACGGATGACACTGTGACCCTG	0.483																																							uc001fdb.3		NA																	0					0						c.(736-738)AGT>ATT		GATA zinc finger domain containing 2B							99.0	74.0	82.0					1																	153790011		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153790011C>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.737G>T	1.37:g.153790011C>A	ENSP00000357644:p.Ser246Ile						p.S246I	NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	981	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		246					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.737G>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026224	0.54683	.	.	ENSG00000143614	ENST00000368655	T	0.33654	1.4	6.17	5.21	0.72293	.	0.085679	0.85682	D	0.000000	T	0.12603	0.0306	N	0.14661	0.345	0.43841	D	0.996425	B	0.25105	0.118	B	0.17098	0.017	T	0.03130	-1.1069	10	0.36615	T	0.2	-14.1716	15.3417	0.74303	0.1403:0.8597:0.0:0.0	.	246	Q8WXI9	P66B_HUMAN	I	246	ENSP00000357644:S246I	ENSP00000357644:S246I	S	-	2	0	GATAD2B	152056635	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.894000	0.63206	2.941000	0.99782	0.655000	0.94253	AGT		0.483	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		11	18	1	0	0.000673444	0.008291	0.000717266	11	18				
IL6R	3570	broad.mit.edu	37	1	154422387	154422387	+	Splice_Site	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:154422387G>C	ENST00000368485.3	+	8	1434	c.997G>C	c.(997-999)Gca>Cca	p.A333P	IL6R_ENST00000344086.4_Splice_Site_p.A333P|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	333					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TCTCTTTTAGGCACTTACTAC	0.458																																							uc001fez.1		NA																	0				ovary(3)|breast(1)	4						c.(997-999)GCA>CCA		interleukin 6 receptor isoform 1 precursor							123.0	122.0	122.0					1																	154422387		2203	4300	6503	SO:0001630	splice_region_variant	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154422387G>C	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.997-1G>C	1.37:g.154422387G>C						IL6R_uc001ffa.1_Missense_Mutation_p.A333P	p.A333P	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	1434	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		333			Extracellular (Potential).		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.997G>C	CCDS1067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.80|13.80	2.346561|2.346561	0.41599|0.41599	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000368485;ENST00000344086|ENST00000476006;ENST00000515190	T;T|.	0.22134|.	2.3;1.97|.	3.97|3.97	3.02|3.02	0.34903|0.34903	.|.	20.380600|.	0.00357|.	N|.	0.000022|.	T|T	0.25568|0.25568	0.0622|0.0622	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	D;P|.	0.69078|.	0.997;0.93|.	D;B|.	0.65010|.	0.931;0.36|.	T|T	0.11446|0.11446	-1.0587|-1.0587	9|5	.|.	.|.	.|.	-1.1595|-1.1595	9.5887|9.5887	0.39532|0.39532	0.0:0.2134:0.7866:0.0|0.0:0.2134:0.7866:0.0	.|.	333;333|.	P08887-2;P08887|.	.;IL6RA_HUMAN|.	P|S	333|271;135	ENSP00000357470:A333P;ENSP00000340589:A333P|.	.|.	A|R	+|+	1|3	0|2	IL6R|IL6R	152689011|152689011	0.993000|0.993000	0.37304|0.37304	0.055000|0.055000	0.19348|0.19348	0.143000|0.143000	0.21401|0.21401	3.614000|3.614000	0.54160|0.54160	1.215000|1.215000	0.43411|0.43411	0.467000|0.467000	0.42956|0.42956	GCA|AGG		0.458	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565	Missense_Mutation	15	22	0	0	0	0.00499	0	15	22				
IL6R	3570	broad.mit.edu	37	1	154437778	154437778	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:154437778G>T	ENST00000368485.3	+	10	1766	c.1329G>T	c.(1327-1329)tcG>tcT	p.S443S	IL6R_ENST00000344086.4_3'UTR|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	443					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.S443S(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	ACAATACCTCGAGCCACAACC	0.622																																							uc001fez.1		NA																	1	Substitution - coding silent(1)	p.S443S(1)	ovary(1)	ovary(3)|breast(1)	4						c.(1327-1329)TCG>TCT		interleukin 6 receptor isoform 1 precursor							60.0	63.0	62.0					1																	154437778		2203	4300	6503	SO:0001819	synonymous_variant	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154437778G>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1329G>T	1.37:g.154437778G>T						IL6R_uc001ffa.1_3'UTR	p.S443S	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		10	1766	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		443			Cytoplasmic (Potential).		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	37	c.1329G>T	CCDS1067.1																																																																																				0.622	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		31	32	1	0	2.65835e-16	0.007291	4.23906e-16	31	32				
HCN3	57657	broad.mit.edu	37	1	155252500	155252500	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:155252500G>T	ENST00000368358.3	+	2	585	c.577G>T	c.(577-579)Gag>Tag	p.E193*	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	193					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTGGAGCTGGAGCCACGGTT	0.612																																							uc001fjz.1		NA																	0				ovary(1)|breast(1)	2						c.(577-579)GAG>TAG		hyperpolarization activated cyclic							84.0	74.0	77.0					1																	155252500		2203	4300	6503	SO:0001587	stop_gained	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155252500G>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.577G>T	1.37:g.155252500G>T	ENSP00000357342:p.Glu193*					RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	p.E193*	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	585	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		193			Extracellular (Potential).		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Nonsense_Mutation	SNP	ENST00000368358.3	37	c.577G>T	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289444	0.95517	.	.	ENSG00000143630	ENST00000368358	.	.	.	4.97	4.97	0.65823	.	0.000000	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	16.1163	0.81306	0.0:0.0:1.0:0.0	.	.	.	.	X	193	.	ENSP00000357342:E193X	E	+	1	0	HCN3	153519124	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.556000	0.98127	2.746000	0.94184	0.591000	0.81541	GAG		0.612	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		21	39	1	0	1.87028e-06	0.001882	2.20653e-06	21	39				
NES	10763	broad.mit.edu	37	1	156642986	156642986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:156642986C>A	ENST00000368223.3	-	4	1126	c.994G>T	c.(994-996)Gag>Tag	p.E332*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	332	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AATTGCAGCTCCAGCTTGGGG	0.587																																							uc001fpq.2		NA																	0				ovary(6)	6						c.(994-996)GAG>TAG		nestin							14.0	18.0	16.0					1																	156642986		2104	4235	6339	SO:0001587	stop_gained	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.chr1:156642986C>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.994G>T	1.37:g.156642986C>A	ENSP00000357206:p.Glu332*						p.E332*	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1127	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		332			Tail.		O00552|Q3LIF5|Q5SYZ6	Nonsense_Mutation	SNP	ENST00000368223.3	37	c.994G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	37	6.221995	0.97390	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	.	.	.	4.87	3.94	0.45596	.	0.251802	0.20862	N	0.084321	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	8.2377	0.31636	0.0:0.886:0.0:0.114	.	.	.	.	X	332	.	ENSP00000255024:E332X	E	-	1	0	NES	154909610	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	1.098000	0.31000	1.028000	0.39785	0.313000	0.20887	GAG		0.587	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		7	15	1	0	0.00198382	0.001984	0.00209878	7	15				
FCRL5	83416	broad.mit.edu	37	1	157494099	157494099	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:157494099G>A	ENST00000361835.3	-	10	2366	c.2209C>T	c.(2209-2211)Cgc>Tgc	p.R737C	FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368190.3_Missense_Mutation_p.R737C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R737C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R652C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	737	Ig-like C2-type 7.				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)				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)				ATCTCACTGCGCTGGGCCTCC	0.562																																							uc001fqu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2209-2211)CGC>TGC		Fc receptor-like 5							51.0	56.0	54.0					1																	157494099		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157494099G>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.2209C>T	1.37:g.157494099G>A	ENSP00000354691:p.Arg737Cys					FCRL5_uc009wsm.2_Missense_Mutation_p.R737C|FCRL5_uc010phv.1_Missense_Mutation_p.R737C|FCRL5_uc010phw.1_Missense_Mutation_p.R652C	p.R737C	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			10	2367	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	737			Extracellular (Potential).|Ig-like C2-type 7.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2209C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538682	0.27475	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	4.83	1.78	0.24846	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01092	0.0036	L	0.50919	1.6	0.09310	N	0.999999	P;B;B;B	0.40534	0.72;0.424;0.061;0.217	B;B;B;B	0.31191	0.125;0.119;0.043;0.087	T	0.48559	-0.9025	9	0.44086	T	0.13	.	5.0021	0.14269	0.0988:0.0:0.5238:0.3774	.	652;737;737;737	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	C	737;737;737;652	ENSP00000354691:R737C;ENSP00000349434:R737C;ENSP00000357173:R737C;ENSP00000357174:R652C	ENSP00000349434:R737C	R	-	1	0	FCRL5	155760723	0.012000	0.17670	0.010000	0.14722	0.015000	0.08874	0.244000	0.18124	0.675000	0.31264	0.650000	0.86243	CGC		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		26	46	0	0	0	0.004656	0	26	46				
FCRL4	83417	broad.mit.edu	37	1	157555991	157555991	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:157555991C>A	ENST00000271532.1	-	6	1237	c.1102G>T	c.(1102-1104)Gtc>Ttc	p.V368F	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	368	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ATGCTCTGGACAGGGCCGTAG	0.493											OREG0007229	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=FCRL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																											uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1102-1104)GTC>TTC		Fc receptor-like 4 precursor							107.0	94.0	99.0					1																	157555991		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157555991C>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1102G>T	1.37:g.157555991C>A	ENSP00000271532:p.Val368Phe		OREG0007229	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=FCRL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1787	FCRL4_uc010phy.1_RNA	p.V368F	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	1238	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	368			Ig-like C2-type 4.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1102G>T	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593699	0.28445	.	.	ENSG00000163518	ENST00000271532	T	0.12879	2.64	4.01	-6.38	0.01957	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.192960	0.06425	N	0.723030	T	0.02571	0.0078	L	0.48362	1.52	0.09310	N	1	B	0.19200	0.034	B	0.14023	0.01	T	0.41070	-0.9529	10	0.09843	T	0.71	.	7.8513	0.29457	0.0:0.5876:0.1387:0.2737	.	368	Q96PJ5	FCRL4_HUMAN	F	368	ENSP00000271532:V368F	ENSP00000271532:V368F	V	-	1	0	FCRL4	155822615	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.609000	0.05635	-0.973000	0.03555	-0.373000	0.07131	GTC		0.493	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		38	45	1	0	7.53189e-24	0.007835	1.3911e-23	38	45				
OR10T2	128360	broad.mit.edu	37	1	158368578	158368578	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158368578G>T	ENST00000334438.1	-	1	678	c.679C>A	c.(679-681)Ctg>Atg	p.L227M		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(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)					GGGATCTTCAGGATGGTGTTA	0.458																																							uc010pih.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(679-681)CTG>ATG		olfactory receptor, family 10, subfamily T,							77.0	76.0	76.0					1																	158368578		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368578G>T	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.679C>A	1.37:g.158368578G>T	ENSP00000334115:p.Leu227Met						p.L227M	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	679	-	all_hematologic(112;0.0378)		227			Cytoplasmic (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.679C>A	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771817	0.49680	.	.	ENSG00000186306	ENST00000334438	T	0.00309	8.16	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33553	N	0.004792	T	0.00328	0.0010	M	0.82132	2.575	0.20873	N	0.999839	D	0.61697	0.99	P	0.59546	0.859	T	0.44682	-0.9312	10	0.72032	D	0.01	.	16.2855	0.82717	0.0:0.0:1.0:0.0	.	227	Q8NGX3	O10T2_HUMAN	M	227	ENSP00000334115:L227M	ENSP00000334115:L227M	L	-	1	2	OR10T2	156635202	0.137000	0.22531	1.000000	0.80357	0.983000	0.72400	0.508000	0.22692	2.359000	0.80004	0.655000	0.94253	CTG		0.458	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		15	22	1	0	3.27435e-08	0.00245	4.07221e-08	15	22				
OR10K1	391109	broad.mit.edu	37	1	158435954	158435954	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158435954G>T	ENST00000289451.2	+	1	683	c.603G>T	c.(601-603)atG>atT	p.M201I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	201						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(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCATATTCATGCTTGGTGTAT	0.483																																							uc010pij.1		NA																	0				ovary(1)	1						c.(601-603)ATG>ATT		olfactory receptor, family 10, subfamily K,							163.0	159.0	161.0					1																	158435954		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435954G>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.603G>T	1.37:g.158435954G>T	ENSP00000289451:p.Met201Ile						p.M201I	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	603	+	all_hematologic(112;0.0378)		201			Helical; Name=5; (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.603G>T	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.110578	0.00353	.	.	ENSG00000173285	ENST00000289451	T	0.00042	8.84	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.608536	0.14619	N	0.308513	T	0.00012	0.0000	N	0.00869	-1.13	0.22185	N	0.999307	B	0.02656	0.0	B	0.08055	0.003	T	0.05209	-1.0899	10	0.07644	T	0.81	.	10.8753	0.46906	0.0:0.0:0.8113:0.1887	.	201	Q8NGX5	O10K1_HUMAN	I	201	ENSP00000289451:M201I	ENSP00000289451:M201I	M	+	3	0	OR10K1	156702578	0.000000	0.05858	0.977000	0.42913	0.209000	0.24338	-0.024000	0.12435	2.160000	0.67779	0.557000	0.71058	ATG		0.483	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			70	61	1	0	1.34159e-35	0.00361	2.74882e-35	70	61				
OR10X1	128367	broad.mit.edu	37	1	158548787	158548787	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158548787G>A	ENST00000368150.1	-	1	902	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408																																							uc010pin.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(901-903)ATC>ATT		olfactory receptor, family 10, subfamily X,							106.0	112.0	110.0					1																	158548787		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548787G>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.903C>T	1.37:g.158548787G>A							p.I301I	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	903	-	all_hematologic(112;0.0378)		301			Helical; Name=7; (Potential).		Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.903C>T	CCDS30900.1																																																																																				0.408	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		60	53	0	0	0	0.00361	0	60	53				
OR10Z1	128368	broad.mit.edu	37	1	158577002	158577002	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158577002G>A	ENST00000361284.1	+	1	774	c.774G>A	c.(772-774)gtG>gtA	p.V258V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTTCCTTCGTGTACCTGAGGC	0.498																																							uc010pio.1		NA																	0				pancreas(1)|skin(1)	2						c.(772-774)GTG>GTA		olfactory receptor, family 10, subfamily Z,							203.0	206.0	205.0					1																	158577002		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577002G>A	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.774G>A	1.37:g.158577002G>A							p.V258V	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	774	+	all_hematologic(112;0.0378)		258			Helical; Name=6; (Potential).		Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.774G>A	CCDS30901.1																																																																																				0.498	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		123	98	0	0	0	0.00361	0	123	98				
SPTA1	6708	broad.mit.edu	37	1	158585084	158585084	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158585084C>A	ENST00000368147.4	-	48	6890	c.6710G>T	c.(6709-6711)gGa>gTa	p.G2237V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2237					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGAGCCAATCCAATGGTGCT	0.527																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6709-6711)GGA>GTA		spectrin, alpha, erythrocytic 1							175.0	180.0	178.0					1																	158585084		2094	4235	6329	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.chr1:158585084C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6710G>T	1.37:g.158585084C>A	ENSP00000357129:p.Gly2237Val						p.G2237V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			48	6909	-	all_hematologic(112;0.0378)		2237			Spectrin 21.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6710G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775931	0.90195	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51071	0.72;0.72	5.54	5.54	0.83059	.	0.000000	0.32134	N	0.006524	T	0.67277	0.2876	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66432	-0.5925	10	0.45353	T	0.12	.	18.234	0.89944	0.0:1.0:0.0:0.0	.	2237	P02549	SPTA1_HUMAN	V	2237;2234	ENSP00000357130:G2237V;ENSP00000357129:G2234V	ENSP00000357129:G2234V	G	-	2	0	SPTA1	156851708	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	5.425000	0.66470	2.884000	0.98904	0.655000	0.94253	GGA		0.527	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		70	123	1	0	3.07281e-33	0.00361	6.18909e-33	70	123				
SPTA1	6708	broad.mit.edu	37	1	158639547	158639547	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158639547A>T	ENST00000368147.4	-	13	1809	c.1629T>A	c.(1627-1629)atT>atA	p.I543I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	543					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTCATCACCAATCAATTTGG	0.413																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1627-1629)ATT>ATA		spectrin, alpha, erythrocytic 1							216.0	199.0	205.0					1																	158639547		1893	4111	6004	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639547A>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.1629T>A	1.37:g.158639547A>T							p.I543I	NM_003126	NP_003117	P02549	SPTA1_HUMAN			13	1828	-	all_hematologic(112;0.0378)		543			Spectrin 6.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1629T>A	CCDS41423.1																																																																																				0.413	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		69	114	0	0	0	0.00361	0	69	114				
SPTA1	6708	broad.mit.edu	37	1	158651381	158651381	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158651381C>T	ENST00000368147.4	-	4	647	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	156					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCAGGGCCCGCAGCAACTG	0.527																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(466-468)CGG>CAG		spectrin, alpha, erythrocytic 1							173.0	178.0	176.0					1																	158651381		2029	4185	6214	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.chr1:158651381C>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.467G>A	1.37:g.158651381C>T	ENSP00000357129:p.Arg156Gln						p.R156Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			4	666	-	all_hematologic(112;0.0378)		156			Spectrin 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.467G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	0.612	-0.824756	0.02755	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.32023	1.47;1.47	5.15	-4.02	0.04034	.	.	.	.	.	T	0.03011	0.0089	N	0.03224	-0.385	0.34689	D	0.725559	B	0.02656	0.0	B	0.04013	0.001	T	0.45527	-0.9255	9	0.02654	T	1	.	13.238	0.59982	0.0:0.2268:0.0:0.7732	.	156	P02549	SPTA1_HUMAN	Q	156	ENSP00000357130:R156Q;ENSP00000357129:R156Q	ENSP00000357129:R156Q	R	-	2	0	SPTA1	156918005	0.991000	0.36638	0.085000	0.20634	0.102000	0.19082	0.191000	0.17076	-0.907000	0.03862	-0.244000	0.11960	CGG		0.527	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		65	108	0	0	0	0.00361	0	65	108				
OR6K2	81448	broad.mit.edu	37	1	158669545	158669545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158669545C>A	ENST00000359610.2	-	1	941	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TTTATAGCTTCTTTTATTTCT	0.378																																							uc001fsu.1		NA																	0				pancreas(1)	1						c.(898-900)GAA>TAA		olfactory receptor, family 6, subfamily K,							70.0	69.0	69.0					1																	158669545		2203	4300	6503	SO:0001587	stop_gained	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669545C>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.898G>T	1.37:g.158669545C>A	ENSP00000352626:p.Glu300*						p.E300*	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	898	-	all_hematologic(112;0.0378)		300			Cytoplasmic (Potential).		B9EH33|Q6IFR6	Nonsense_Mutation	SNP	ENST00000359610.2	37	c.898G>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258483	0.39896	.	.	ENSG00000196171	ENST00000359610	.	.	.	4.81	4.81	0.61882	.	0.000000	0.42548	D	0.000691	.	.	.	.	.	.	0.49687	D	0.999812	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-0.7228	6.0769	0.19921	0.1886:0.7181:0.0:0.0932	.	.	.	.	X	300	.	ENSP00000352626:E300X	E	-	1	0	OR6K2	156936169	0.000000	0.05858	0.995000	0.50966	0.289000	0.27227	-1.031000	0.03578	2.468000	0.83385	0.561000	0.74099	GAA		0.378	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		12	22	1	0	3.07112e-06	0.000978	3.59348e-06	12	22				
OR6N1	128372	broad.mit.edu	37	1	158735961	158735961	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158735961G>A	ENST00000335094.2	-	1	531	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					AATGCGATTGGGGCCACAGAA	0.468																																							uc010piq.1		NA																	0				ovary(1)	1						c.(511-513)CCC>CTC		olfactory receptor, family 6, subfamily N,							86.0	89.0	88.0					1																	158735961		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735961G>A	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.512C>T	1.37:g.158735961G>A	ENSP00000335535:p.Pro171Leu						p.P171L	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	512	-	all_hematologic(112;0.0378)		171			Extracellular (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.512C>T	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497710	0.44455	.	.	ENSG00000197403	ENST00000335094	T	0.38077	1.16	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000321	T	0.26919	0.0659	M	0.61703	1.905	0.49687	D	0.999811	B	0.10296	0.003	B	0.14023	0.01	T	0.15752	-1.0426	10	0.66056	D	0.02	-28.5948	16.7399	0.85456	0.0:0.0:1.0:0.0	.	171	Q8NGY5	OR6N1_HUMAN	L	171	ENSP00000335535:P171L	ENSP00000335535:P171L	P	-	2	0	OR6N1	157002585	0.983000	0.35010	0.997000	0.53966	0.836000	0.47400	4.353000	0.59411	2.454000	0.82982	0.655000	0.94253	CCC		0.468	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		31	42	0	0	0	0.007291	0	31	42				
PYHIN1	149628	broad.mit.edu	37	1	158911776	158911776	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:158911776C>A	ENST00000368140.1	+	5	834	c.589C>A	c.(589-591)Cca>Aca	p.P197T	PYHIN1_ENST00000368138.3_Missense_Mutation_p.P188T|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P188T|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P197T|PYHIN1_ENST00000485134.1_3'UTR	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	197					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)					GAGCCTAAAACCATTGGCCAA	0.388																																							uc001ftb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(589-591)CCA>ACA		pyrin and HIN domain family, member 1 alpha 1							46.0	47.0	47.0					1																	158911776		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158911776C>A	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.589C>A	1.37:g.158911776C>A	ENSP00000357122:p.Pro197Thr					PYHIN1_uc001ftc.2_Missense_Mutation_p.P188T|PYHIN1_uc001ftd.2_Missense_Mutation_p.P197T|PYHIN1_uc001fte.2_Missense_Mutation_p.P188T	p.P197T	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			5	834	+	all_hematologic(112;0.0378)		197					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.589C>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.235228	0.00277	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.04862	3.56;3.54;3.59;3.57	2.62	-5.17	0.02849	.	.	.	.	.	T	0.00468	0.0015	N	0.02391	-0.57	0.09310	N	1	B;B;B;B	0.13145	0.007;0.007;0.007;0.004	B;B;B;B	0.15484	0.007;0.007;0.013;0.006	T	0.46857	-0.9161	9	0.09590	T	0.72	.	2.4237	0.04455	0.3748:0.3083:0.0:0.3169	.	188;197;188;197	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	T	197;188;197;188	ENSP00000357122:P197T;ENSP00000357120:P188T;ENSP00000376083:P197T;ENSP00000376082:P188T	ENSP00000357120:P188T	P	+	1	0	PYHIN1	157178400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.160000	0.00145	-1.223000	0.02584	-0.142000	0.14014	CCA		0.388	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		12	10	1	0	0.00010058	0.001368	0.000111028	12	10				
OLFML2B	25903	broad.mit.edu	37	1	161970018	161970018	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:161970018G>T	ENST00000294794.3	-	5	1257	c.834C>A	c.(832-834)ccC>ccA	p.P278P	OLFML2B_ENST00000367940.2_Silent_p.P279P	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	278					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCCTCTGCAGGGGCCGCTGTG	0.597																																							uc001gbu.2		NA																	0				skin(1)	1						c.(832-834)CCC>CCA		olfactomedin-like 2B precursor							53.0	54.0	54.0					1																	161970018		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161970018G>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.834C>A	1.37:g.161970018G>T						OLFML2B_uc010pkq.1_Silent_p.P279P	p.P278P	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		5	1258	-	all_hematologic(112;0.156)		278					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.834C>A	CCDS1236.1																																																																																				0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		25	40	1	0	2.79863e-10	0.004656	3.74554e-10	25	40				
OLFML2B	25903	broad.mit.edu	37	1	161989882	161989882	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:161989882A>T	ENST00000294794.3	-	2	688	c.265T>A	c.(265-267)Tgc>Agc	p.C89S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.C89S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	89					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATCCTCTGGCAGGCATCCCGG	0.587																																							uc001gbu.2		NA																	0				skin(1)	1						c.(265-267)TGC>AGC		olfactomedin-like 2B precursor							82.0	83.0	83.0					1																	161989882		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161989882A>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.265T>A	1.37:g.161989882A>T	ENSP00000294794:p.Cys89Ser					OLFML2B_uc010pkq.1_Missense_Mutation_p.C89S	p.C89S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		2	689	-	all_hematologic(112;0.156)		89					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.265T>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327816	0.81690	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.47869	0.83;0.83	4.5	4.5	0.54988	.	.	.	.	.	T	0.54806	0.1881	M	0.67397	2.05	0.44918	D	0.997939	D;D	0.65815	0.986;0.995	P;D	0.65443	0.722;0.935	T	0.62923	-0.6751	8	0.87932	D	0	.	12.0923	0.53733	1.0:0.0:0.0:0.0	.	89;89	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	S	89	ENSP00000294794:C89S;ENSP00000356917:C89S	ENSP00000294794:C89S	C	-	1	0	OLFML2B	160256506	1.000000	0.71417	0.997000	0.53966	0.830000	0.47004	8.466000	0.90387	2.013000	0.59113	0.459000	0.35465	TGC		0.587	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		28	25	0	0	0	0.00632	0	28	25				
ILDR2	387597	broad.mit.edu	37	1	166904641	166904641	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:166904641G>A	ENST00000271417.3	-	6	832	c.777C>T	c.(775-777)atC>atT	p.I259I	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Silent_p.I240I|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000469934.2_Silent_p.I259I	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	259					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGACAGAGGGGATGGAGTAAG	0.597																																							uc001gdx.1		NA																	0				ovary(1)	1						c.(775-777)ATC>ATT		immunoglobulin-like domain containing receptor							65.0	64.0	64.0					1																	166904641		2203	4300	6503	SO:0001819	synonymous_variant	387597					integral to membrane		g.chr1:166904641G>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.777C>T	1.37:g.166904641G>A							p.I259I	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			6	833	-			259			Cytoplasmic (Potential).			Silent	SNP	ENST00000271417.3	37	c.777C>T	CCDS1256.1																																																																																				0.597	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		33	27	0	0	0	0.004289	0	33	27				
GPR161	23432	broad.mit.edu	37	1	168054915	168054915	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:168054915C>T	ENST00000367838.1	-	8	1757	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	GPR161_ENST00000546300.1_Missense_Mutation_p.E368K|GPR161_ENST00000361697.2_Missense_Mutation_p.E482K|GPR161_ENST00000537209.1_Missense_Mutation_p.E502K|GPR161_ENST00000367836.1_Missense_Mutation_p.E350K|GPR161_ENST00000539777.1_Missense_Mutation_p.E404K|GPR161_ENST00000367835.1_Missense_Mutation_p.E482K|GPR161_ENST00000271357.5_Missense_Mutation_p.E482K	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	482					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GGCAAAGCCTCCTCCCCAAAT	0.567																																							uc001gfc.2		NA																	0					0						c.(1444-1446)GAG>AAG		G protein-coupled receptor 161 isoform 2							86.0	91.0	90.0					1																	168054915		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168054915C>T	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1444G>A	1.37:g.168054915C>T	ENSP00000356812:p.Glu482Lys					GPR161_uc001gfb.2_Missense_Mutation_p.E350K|GPR161_uc010pll.1_Missense_Mutation_p.E392K|GPR161_uc010plm.1_Missense_Mutation_p.E368K|GPR161_uc009wvo.2_Missense_Mutation_p.E499K|GPR161_uc001gfd.2_Missense_Mutation_p.E482K|GPR161_uc010pln.1_Missense_Mutation_p.E502K	p.E482K	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			8	1758	-	all_hematologic(923;0.215)		482			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.1444G>A	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	c	19.61	3.860453	0.71834	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.81499	-0.03;-0.03;-1.5;-0.03;-1.04;-1.01;0.05;-0.03	5.75	5.75	0.90469	.	0.432754	0.25827	N	0.028059	T	0.69869	0.3159	L	0.40543	1.245	0.26523	N	0.974397	B;B;P;B;B	0.37276	0.435;0.309;0.589;0.309;0.309	B;B;B;B;B	0.36608	0.167;0.081;0.229;0.081;0.081	T	0.75557	-0.3276	9	0.66056	D	0.02	-31.7479	19.5711	0.95419	0.0:1.0:0.0:0.0	.	502;368;404;502;482	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8	.;.;.;.;GP161_HUMAN	K	482;482;350;482;368;404;502;482	ENSP00000356812:E482K;ENSP00000271357:E482K;ENSP00000356810:E350K;ENSP00000356809:E482K;ENSP00000444348:E368K;ENSP00000437576:E404K;ENSP00000441039:E502K;ENSP00000355194:E482K	ENSP00000271357:E482K	E	-	1	0	GPR161	166321539	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.116000	0.41930	2.714000	0.92807	0.645000	0.84053	GAG		0.567	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		56	70	0	0	0	0.00361	0	56	70				
TNN	63923	broad.mit.edu	37	1	175049430	175049430	+	Missense_Mutation	SNP	C	C	A	rs560239372		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:175049430C>A	ENST00000239462.4	+	4	1029	c.916C>A	c.(916-918)Cag>Aag	p.Q306K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	306	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCTGGGAAGCAGATCCAAGT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19437	0.0		0.0	False		,,,				2504	0.001						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(916-918)CAG>AAG		tenascin N precursor							101.0	97.0	99.0					1																	175049430		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049430C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.916C>A	1.37:g.175049430C>A	ENSP00000239462:p.Gln306Lys					TNN_uc010pmx.1_Missense_Mutation_p.Q306K	p.Q306K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	1029	+		Breast(1374;0.000962)	306			Fibronectin type-III 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.916C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831614	0.32329	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.56941	0.43	5.69	2.75	0.32379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.349429	0.34200	N	0.004180	T	0.52451	0.1735	M	0.67953	2.075	0.35809	D	0.823736	B;B	0.29341	0.242;0.044	B;B	0.33254	0.16;0.081	T	0.60601	-0.7231	10	0.62326	D	0.03	.	12.5987	0.56485	0.1234:0.3985:0.4781:0.0	.	306;306	B3KXB6;Q9UQP3	.;TENN_HUMAN	K	306	ENSP00000239462:Q306K	ENSP00000239462:Q306K	Q	+	1	0	TNN	173316053	0.973000	0.33851	0.980000	0.43619	0.493000	0.33554	0.213000	0.17521	0.320000	0.23234	0.650000	0.86243	CAG		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		16	41	1	0	4.14922e-12	0.004007	5.92033e-12	16	41				
TNR	7143	broad.mit.edu	37	1	175331857	175331857	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:175331857G>T	ENST00000367674.2	-	14	3504	c.2796C>A	c.(2794-2796)agC>agA	p.S932R	TNR_ENST00000263525.2_Missense_Mutation_p.S932R			Q92752	TENR_HUMAN	tenascin R	932	Fibronectin type-III 7. {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)				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)					CGCTGTTGAGGCTGATTTCGT	0.552																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2794-2796)AGC>AGA		tenascin R precursor							217.0	181.0	193.0					1																	175331857		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331857G>T	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.2796C>A	1.37:g.175331857G>T	ENSP00000356646:p.Ser932Arg					TNR_uc009wwu.1_Missense_Mutation_p.S932R	p.S932R	NM_003285	NP_003276	Q92752	TENR_HUMAN			12	2877	-	Renal(580;0.146)		932			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2796C>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643440	0.67244	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.54071	0.59;0.59	5.59	1.59	0.23543	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.146062	0.64402	D	0.000006	T	0.53302	0.1788	L	0.60845	1.875	0.40601	D	0.981584	P	0.48911	0.917	P	0.53689	0.732	T	0.48456	-0.9034	10	0.40728	T	0.16	.	4.5309	0.12004	0.4086:0.0:0.4475:0.1439	.	932	Q92752	TENR_HUMAN	R	932;932;842	ENSP00000356646:S932R;ENSP00000263525:S932R	ENSP00000263525:S932R	S	-	3	2	TNR	173598480	0.980000	0.34600	0.999000	0.59377	0.967000	0.64934	0.185000	0.16958	0.037000	0.15575	-0.133000	0.14855	AGC		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		43	51	1	0	1.15183e-24	0.009718	2.15251e-24	43	51				
TNR	7143	broad.mit.edu	37	1	175360456	175360456	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:175360456C>A	ENST00000367674.2	-	7	2183	c.1475G>T	c.(1474-1476)cGc>cTc	p.R492L	TNR_ENST00000263525.2_Missense_Mutation_p.R492L			Q92752	TENR_HUMAN	tenascin R	492	Fibronectin type-III 2. {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.R492H(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)					AGGGGGGCTGCGGGCCTGTTC	0.547																																							uc001gkp.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1474-1476)CGC>CTC		tenascin R precursor							70.0	72.0	71.0					1																	175360456		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175360456C>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.1475G>T	1.37:g.175360456C>A	ENSP00000356646:p.Arg492Leu					TNR_uc009wwu.1_Missense_Mutation_p.R492L	p.R492L	NM_003285	NP_003276	Q92752	TENR_HUMAN			5	1556	-	Renal(580;0.146)		492			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1475G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194774	0.94960	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67321	-0.5700	10	0.52906	T	0.07	.	18.3986	0.90507	0.0:1.0:0.0:0.0	.	492	Q92752	TENR_HUMAN	L	492	ENSP00000356646:R492L;ENSP00000263525:R492L	ENSP00000263525:R492L	R	-	2	0	TNR	173627079	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.376000	0.79658	2.429000	0.82318	0.655000	0.94253	CGC		0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		35	58	1	0	3.62531e-18	0.004289	6.08778e-18	35	58				
PAPPA2	60676	broad.mit.edu	37	1	176738765	176738765	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:176738765C>G	ENST00000367662.3	+	16	5510	c.4346C>G	c.(4345-4347)tCt>tGt	p.S1449C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1449	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)			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						CTCACATGTTCTTCTGGGCAC	0.478																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4345-4347)TCT>TGT		pappalysin 2 isoform 1							121.0	112.0	115.0					1																	176738765		1892	4114	6006	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738765C>G	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.4346C>G	1.37:g.176738765C>G	ENSP00000356634:p.Ser1449Cys					PAPPA2_uc009www.2_RNA	p.S1449C	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			16	5510	+			1449			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4346C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038800	0.55003	.	.	ENSG00000116183	ENST00000367662	T	0.77098	-1.07	6.17	4.33	0.51752	Sushi/SCR/CCP (1);	0.413896	0.26927	N	0.021787	T	0.80160	0.4572	M	0.65975	2.015	0.20403	N	0.999901	D	0.61697	0.99	P	0.57776	0.827	T	0.72127	-0.4384	10	0.56958	D	0.05	-13.3797	2.3834	0.04360	0.1337:0.5253:0.1292:0.2119	.	1449	Q9BXP8	PAPP2_HUMAN	C	1449	ENSP00000356634:S1449C	ENSP00000356634:S1449C	S	+	2	0	PAPPA2	175005388	0.082000	0.21442	0.943000	0.38184	0.876000	0.50452	0.632000	0.24583	0.951000	0.37770	-0.136000	0.14681	TCT		0.478	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			39	48	0	0	0	0.007835	0	39	48				
ASTN1	460	broad.mit.edu	37	1	176993816	176993816	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:176993816G>T	ENST00000367654.3	-	6	1384	c.1173C>A	c.(1171-1173)atC>atA	p.I391I	ASTN1_ENST00000367657.3_Silent_p.I391I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.I391I|ASTN1_ENST00000424564.2_Silent_p.I391I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	391					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGCTGGTGATGCTGATCA	0.512																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1171-1173)ATC>ATA		astrotactin isoform 1							163.0	128.0	140.0					1																	176993816		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993816G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1173C>A	1.37:g.176993816G>T						ASTN1_uc001glb.1_Silent_p.I391I|ASTN1_uc001gld.1_Silent_p.I391I|ASTN1_uc009wwx.1_Silent_p.I391I|ASTN1_uc001gle.3_RNA	p.I391I	NM_004319	NP_004310	O14525	ASTN1_HUMAN			6	1385	-			391			Helical; (Potential).		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1173C>A																																																																																					0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		23	23	1	0	1.50039e-11	0.001882	2.10706e-11	23	23				
ASTN1	460	broad.mit.edu	37	1	177001871	177001871	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:177001871C>T	ENST00000367654.3	-	3	797	c.586G>A	c.(586-588)Gag>Aag	p.E196K	ASTN1_ENST00000367657.3_Missense_Mutation_p.E196K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.E196K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E196K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	196					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGGCTGCCTCAGCACTGGCA	0.627																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(586-588)GAG>AAG		astrotactin isoform 1							45.0	43.0	44.0					1																	177001871		2203	4299	6502	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001871C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.586G>A	1.37:g.177001871C>T	ENSP00000356626:p.Glu196Lys					ASTN1_uc001glb.1_Missense_Mutation_p.E196K|ASTN1_uc001gld.1_Missense_Mutation_p.E196K|ASTN1_uc009wwx.1_Missense_Mutation_p.E196K|ASTN1_uc001gle.3_RNA	p.E196K	NM_004319	NP_004310	O14525	ASTN1_HUMAN			3	798	-			196					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.586G>A		.	.	.	.	.	.	.	.	.	.	C	25.6	4.654153	0.88056	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.23147	1.92;2.33;2.33;1.92	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	L	0.43152	1.355	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.78314	0.991;0.987;0.987	T	0.37709	-0.9694	10	0.72032	D	0.01	-20.7314	19.0456	0.93018	0.0:1.0:0.0:0.0	.	196;196;196	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	K	196	ENSP00000356629:E196K;ENSP00000354536:E196K;ENSP00000356626:E196K;ENSP00000395041:E196K	ENSP00000354536:E196K	E	-	1	0	ASTN1	175268494	1.000000	0.71417	0.954000	0.39281	0.858000	0.48976	7.676000	0.84012	2.567000	0.86603	0.655000	0.94253	GAG		0.627	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		35	42	0	0	0	0.003271	0	35	42				
ASTN1	460	broad.mit.edu	37	1	177133544	177133544	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:177133544G>T	ENST00000367654.3	-	1	480	c.269C>A	c.(268-270)cCc>cAc	p.P90H	ASTN1_ENST00000367657.3_Missense_Mutation_p.P90H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.P90H|ASTN1_ENST00000424564.2_Missense_Mutation_p.P90H	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	90					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACGAAGTAGGGCAGCTCCGT	0.692																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(268-270)CCC>CAC		astrotactin isoform 1							38.0	32.0	34.0					1																	177133544		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133544G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.269C>A	1.37:g.177133544G>T	ENSP00000356626:p.Pro90His					ASTN1_uc001glb.1_Missense_Mutation_p.P90H|ASTN1_uc001gld.1_Missense_Mutation_p.P90H|ASTN1_uc009wwx.1_Missense_Mutation_p.P90H	p.P90H	NM_004319	NP_004310	O14525	ASTN1_HUMAN			1	481	-			90					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.269C>A		.	.	.	.	.	.	.	.	.	.	G	22.2	4.255737	0.80135	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.28895	1.59;2.0;1.99;1.6	3.04	3.04	0.35103	.	0.077484	0.52532	D	0.000073	T	0.46308	0.1386	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.51529	-0.8694	10	0.87932	D	0	-19.4293	14.143	0.65331	0.0:0.0:1.0:0.0	.	90;90;90	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	H	90	ENSP00000356629:P90H;ENSP00000354536:P90H;ENSP00000356626:P90H;ENSP00000395041:P90H	ENSP00000354536:P90H	P	-	2	0	ASTN1	175400167	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.070000	0.93974	1.718000	0.51419	0.385000	0.25706	CCC		0.692	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	6	1	0	0.00024832	0.009096	0.000270549	3	6				
RALGPS2	55103	broad.mit.edu	37	1	178802638	178802638	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:178802638G>T	ENST00000367635.3	+	8	898	c.560G>T	c.(559-561)aGa>aTa	p.R187I	RALGPS2_ENST00000367634.2_Missense_Mutation_p.R187I	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	187	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAGACTCAGAGACTATATA	0.303																																							uc001glz.2		NA																	0					0						c.(559-561)AGA>ATA		Ral GEF with PH domain and SH3 binding motif 2							133.0	129.0	131.0					1																	178802638		2203	4291	6494	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178802638G>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.560G>T	1.37:g.178802638G>T	ENSP00000356607:p.Arg187Ile					RALGPS2_uc001gly.1_Missense_Mutation_p.R187I|RALGPS2_uc010pnb.1_Missense_Mutation_p.R187I	p.R187I	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			8	898	+			187			Ras-GEF.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.560G>T	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160834	0.94727	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.65916	-0.18;-0.18;-0.18	6.01	6.01	0.97437	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.86472	0.5941	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89341	0.3654	10	0.87932	D	0	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	187;187	B7Z7B1;Q86X27	.;RGPS2_HUMAN	I	187;187;152	ENSP00000356607:R187I;ENSP00000356606:R187I;ENSP00000313613:R152I	ENSP00000313613:R152I	R	+	2	0	RALGPS2	177069261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.334000	0.96470	2.861000	0.98227	0.650000	0.86243	AGA		0.303	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		30	41	1	0	1.13719e-10	0.008361	1.54814e-10	30	41				
AXDND1	126859	broad.mit.edu	37	1	179338016	179338016	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:179338016C>A	ENST00000367618.3	+	3	566	c.179C>A	c.(178-180)cCc>cAc	p.P60H	AXDND1_ENST00000461179.2_Intron|AXDND1_ENST00000457238.2_Missense_Mutation_p.P60H	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	60										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAGTTCATTCCCAAAGAAGTT	0.398																																							uc001gmo.2		NA																	0					0						c.(178-180)CCC>CAC		hypothetical protein LOC126859 isoform 1							59.0	61.0	60.0					1																	179338016		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179338016C>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.179C>A	1.37:g.179338016C>A	ENSP00000356590:p.Pro60His					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Intron|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.P60H	p.P60H	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			3	306	+			60					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.179C>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619832	0.66787	.	.	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000507383;ENST00000508229;ENST00000457238;ENST00000508285;ENST00000511889	T;T	0.75704	-0.08;-0.96	5.15	4.24	0.50183	.	0.116153	0.38663	N	0.001618	T	0.81645	0.4866	M	0.61703	1.905	0.35940	D	0.833136	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	D	0.85819	0.1384	10	0.87932	D	0	-6.5502	9.7372	0.40395	0.0:0.9035:0.0:0.0965	.	18;60	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	H	18;60;18;18;60;60;60;18	ENSP00000356590:P60H;ENSP00000416712:P60H	ENSP00000353471:P18H	P	+	2	0	AXDND1	177604639	0.985000	0.35326	0.856000	0.33681	0.946000	0.59487	2.823000	0.48081	1.150000	0.42419	0.579000	0.79373	CCC		0.398	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		15	25	1	0	1.3612e-06	0.003163	1.61261e-06	15	25				
NPHS2	7827	broad.mit.edu	37	1	179520369	179520369	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:179520369G>T	ENST00000367615.4	-	8	1159	c.1091C>A	c.(1090-1092)cCa>cAa	p.P364Q	NPHS2_ENST00000367616.4_Missense_Mutation_p.P296Q|RP11-545A16.1_ENST00000569644.1_RNA|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	364					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGAAGGACTTGGGAAGGGGAG	0.483																																							uc001gmq.3		NA																	0					0						c.(1090-1092)CCA>CAA		podocin							79.0	78.0	78.0					1																	179520369		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179520369G>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.1091C>A	1.37:g.179520369G>T	ENSP00000356587:p.Pro364Gln					C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.P296Q|C1orf125_uc001gmr.2_RNA	p.P364Q	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			8	1176	-			364			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.1091C>A	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813432	0.70912	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99591	-6.24;-6.24	5.34	5.34	0.76211	.	0.447351	0.26262	N	0.025392	D	0.99248	0.9738	L	0.56769	1.78	0.19575	N	0.999963	P;P	0.52061	0.95;0.944	P;P	0.53809	0.735;0.497	D	0.97196	0.9861	10	0.49607	T	0.09	-11.9181	17.9644	0.89096	0.0:0.0:1.0:0.0	.	296;364	Q9NP85-2;Q9NP85	.;PODO_HUMAN	Q	364;296	ENSP00000356587:P364Q;ENSP00000356588:P296Q	ENSP00000356587:P364Q	P	-	2	0	NPHS2	177786992	0.715000	0.27946	0.093000	0.20910	0.943000	0.58893	3.282000	0.51693	2.652000	0.90054	0.655000	0.94253	CCA		0.483	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			24	54	1	0	6.21321e-17	0.00278	1.00885e-16	24	54				
NPHS2	7827	broad.mit.edu	37	1	179544726	179544726	+	Splice_Site	SNP	C	C	A	rs74315345		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:179544726C>A	ENST00000367615.4	-	1	342	c.274G>T	c.(274-276)Ggt>Tgt	p.G92C	NPHS2_ENST00000367616.4_Splice_Site_p.G92C|RNU5F-2P_ENST00000516066.1_RNA	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	92			G -> C (in NPHS2). {ECO:0000269|PubMed:10742096}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAATCCGTACCTTCCTCGGGC	0.632																																							uc001gmq.3		NA																	0					0	GRCh37	CM000580	NPHS2	M	rs74315345	c.(274-276)GGT>TGT		podocin																																				SO:0001630	splice_region_variant	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179544726C>A	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.274+1G>T	1.37:g.179544726C>A						NPHS2_uc009wxi.2_Missense_Mutation_p.G92C	p.G92C	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			1	359	-			92		G -> C (in NPHS2).	Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.274G>T	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338848	0.60963	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99663	-6.33;-6.33	4.1	4.1	0.47936	.	0.120167	0.56097	D	0.000030	D	0.99372	0.9779	M	0.61703	1.905	0.52099	A	0.999947	D;D	0.89917	1.0;0.996	D;P	0.97110	1.0;0.784	D	0.99136	1.0854	8	.	.	.	-8.8119	12.1802	0.54208	0.0:1.0:0.0:0.0	.	92;92	Q9NP85-2;Q9NP85	.;PODO_HUMAN	C	92	ENSP00000356587:G92C;ENSP00000356588:G92C	.	G	-	1	0	NPHS2	177811349	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	3.840000	0.55843	1.979000	0.57680	0.467000	0.42956	GGT		0.632	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1		Missense_Mutation	15	17	1	0	1.45105e-14	0.006122	2.20288e-14	15	17				
CACNA1E	777	broad.mit.edu	37	1	181689992	181689992	+	Splice_Site	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:181689992G>C	ENST00000367573.2	+	15	1956		c.e15+1		CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000526775.1_Splice_Site	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						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)			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						TGTGTTCCAGGTATGAGGCCA	0.438																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.e15+1		calcium channel, voltage-dependent, R type,							55.0	55.0	55.0					1																	181689992		1930	4146	6076	SO:0001630	splice_region_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181689992G>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.1956+1G>C	1.37:g.181689992G>C						CACNA1E_uc009wxs.2_Splice_Site_p.Q559_splice	p.Q652_splice	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			15	2121	+								B1AM12|B1AM13|B1AM14|Q14580|Q14581	Splice_Site	SNP	ENST00000367573.2	37	c.1956_splice	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044332	0.93685	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5894	0.95501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1E	179956615	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.731000	0.98807	2.720000	0.93068	0.557000	0.71058	.		0.438	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	Intron	8	8	0	0	0	0.004482	0	8	8				
C1orf21	81563	broad.mit.edu	37	1	184446562	184446562	+	5'UTR	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:184446562T>A	ENST00000235307.6	+	0	354					NM_030806.3	NP_110433.1	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21											breast(1)|lung(1)	2		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		TGGATTTTCTTTGTGTTTAAA	0.468																																							uc001gqv.1		NA																	0					0						c.(-83--79)CTTTG>CTATG		chromosome 1 open reading frame 21																																				SO:0001623	5_prime_UTR_variant	81563							g.chr1:184446562T>A	AF312864	CCDS1362.1	1q25	2008-07-18			ENSG00000116667	ENSG00000116667			15494	protein-coding gene	gene with protein product	"""proliferation-inducing protein 13"""					11318611	Standard	NM_030806		Approved	PIG13	uc001gqv.1	Q9H246	OTTHUMG00000035386	ENST00000235307.6:c.-82T>A	1.37:g.184446562T>A								NM_030806	NP_110433	Q9H246	CA021_HUMAN		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)	2	396	+		Breast(1374;0.00262)						B2R551	Translation_Start_Site	SNP	ENST00000235307.6	37	c.-81T>A	CCDS1362.1																																																																																				0.468	C1orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085784.2	NM_030806		12	8	0	0	0	0.000978	0	12	8				
HMCN1	83872	broad.mit.edu	37	1	186083236	186083236	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:186083236C>A	ENST00000271588.4	+	73	11486	c.11257C>A	c.(11257-11259)Cta>Ata	p.L3753I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L3753I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3753	Ig-like C2-type 36.				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)			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						TGGAGCTGTTCTAGCTGGGAA	0.368																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(11257-11259)CTA>ATA		hemicentin 1 precursor							94.0	102.0	99.0					1																	186083236		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186083236C>A	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.11257C>A	1.37:g.186083236C>A	ENSP00000271588:p.Leu3753Ile						p.L3753I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			73	11486	+			3753			Ig-like C2-type 36.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.11257C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360339	0.41801	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.69685	-0.42;-0.42	5.27	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.138952	0.49305	D	0.000149	T	0.68118	0.2966	L	0.31845	0.965	0.52501	D	0.999956	D	0.69078	0.997	D	0.80764	0.994	T	0.61647	-0.7020	10	0.21014	T	0.42	.	9.0091	0.36131	0.1502:0.7662:0.0:0.0836	.	3753	Q96RW7	HMCN1_HUMAN	I	3753	ENSP00000271588:L3753I;ENSP00000356462:L3753I	ENSP00000271588:L3753I	L	+	1	2	HMCN1	184349859	1.000000	0.71417	0.532000	0.27989	0.968000	0.65278	2.061000	0.41403	2.621000	0.88768	0.655000	0.94253	CTA		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		43	44	1	0	2.00842e-17	0.002522	3.31401e-17	43	44				
TPR	7175	broad.mit.edu	37	1	186310292	186310292	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:186310292C>T	ENST00000367478.4	-	29	4185		c.e29-1			NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						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)			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)		GTTTCCTCACCTGAAAATCAT	0.353			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.e29-1		nuclear pore complex-associated protein TPR							126.0	110.0	115.0					1																	186310292		1841	4105	5946	SO:0001630	splice_region_variant	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.chr1:186310292C>T	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.3889-1G>A	1.37:g.186310292C>T							p.V1297_splice	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	29	4186	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)						Q15655|Q5SWY0|Q99968	Splice_Site	SNP	ENST00000367478.4	37	c.3889_splice	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926430	0.52759	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.519	0.90944	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPR	184576915	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	3.786000	0.55431	2.361000	0.80049	0.591000	0.81541	.		0.353	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	Intron	24	19	0	0	0	0.002299	0	24	19				
KCNT2	343450	broad.mit.edu	37	1	196227369	196227369	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:196227369C>A	ENST00000294725.9	-	26	4081	c.3166G>T	c.(3166-3168)Gtg>Ttg	p.V1056L	KCNT2_ENST00000367433.5_Missense_Mutation_p.V1032L|KCNT2_ENST00000367431.4_Missense_Mutation_p.V990L|KCNT2_ENST00000609185.1_Missense_Mutation_p.V989L|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1056					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTATTTTTCACAAGTTCAGCA	0.398																																							uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(3166-3168)GTG>TTG		potassium channel, subfamily T, member 2							110.0	113.0	112.0					1																	196227369		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227369C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3166G>T	1.37:g.196227369C>A	ENSP00000294725:p.Val1056Leu					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.V989L|KCNT2_uc001gtf.1_Missense_Mutation_p.V1032L|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.V560L	p.V1056L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			26	3226	-			1056			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.3166G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080120	0.76528	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.39997	1.05;1.17;1.41	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000037	T	0.66915	0.2838	M	0.79805	2.47	0.80722	D	1	D;P;D;B	0.64830	0.985;0.846;0.994;0.391	P;B;P;B	0.61592	0.891;0.412;0.891;0.167	T	0.68857	-0.5298	10	0.72032	D	0.01	-15.2827	20.398	0.98986	0.0:1.0:0.0:0.0	.	1021;1032;989;1056	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	L	1032;990;1056	ENSP00000356403:V1032L;ENSP00000356401:V990L;ENSP00000294725:V1056L	ENSP00000294725:V1056L	V	-	1	0	KCNT2	194493992	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.827000	0.97445	0.643000	0.83706	GTG		0.398	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		27	32	1	0	3.69857e-22	0.008361	6.66678e-22	27	32				
CFHR3	10878	broad.mit.edu	37	1	196748352	196748352	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:196748352G>C	ENST00000367425.4	+	2	211	c.119G>C	c.(118-120)aGa>aCa	p.R40T	CFHR3_ENST00000391985.3_Missense_Mutation_p.R40T|CFHR3_ENST00000471440.2_Missense_Mutation_p.R40T	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	40	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AATATGCGTAGACCATACTTT	0.323																																							uc001gtl.2		NA																	0					0						c.(118-120)AGA>ACA		complement factor H-related 3 precursor							68.0	75.0	73.0					1																	196748352		1904	4124	6028	SO:0001583	missense	10878					extracellular space		g.chr1:196748352G>C	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.119G>C	1.37:g.196748352G>C	ENSP00000356395:p.Arg40Thr					CFHR3_uc001gtk.2_Missense_Mutation_p.R40T|CFHR3_uc010poy.1_Missense_Mutation_p.R40T|CFHR1_uc001gtm.2_Missense_Mutation_p.R3T	p.R40T	NM_021023	NP_066303	Q02985	FHR3_HUMAN			2	206	+			40			Sushi 1.		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.119G>C	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.849410	0.32699	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.34667	1.35;1.43;1.9	2.86	-1.92	0.07618	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.54870	0.1885	M	0.81239	2.535	0.09310	N	1	D;D;D	0.89917	0.998;1.0;0.991	D;D;D	0.81914	0.974;0.995;0.912	T	0.47058	-0.9146	9	0.87932	D	0	.	6.7907	0.23697	0.4317:0.0:0.5683:0.0	.	40;40;40	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	T	40	ENSP00000356395:R40T;ENSP00000436258:R40T;ENSP00000375845:R40T	ENSP00000356395:R40T	R	+	2	0	CFHR3	195014975	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.553000	0.06012	-0.570000	0.06022	0.184000	0.17185	AGA		0.323	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		27	36	0	0	0	0.00632	0	27	36				
ZBTB41	360023	broad.mit.edu	37	1	197128671	197128671	+	Nonsense_Mutation	SNP	G	G	A	rs368570752		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:197128671G>A	ENST00000367405.4	-	10	2616	c.2548C>T	c.(2548-2550)Cga>Tga	p.R850*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	850					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCCGCTGCTCGTGGATAATCA	0.458																																							uc001gtx.1		NA																	0				ovary(1)|skin(1)	2						c.(2548-2550)CGA>TGA		zinc finger and BTB domain containing 41		G	stop/ARG	0,4406		0,0,2203	210.0	214.0	212.0		2548	5.6	1.0	1		212	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ZBTB41	NM_194314.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		850/910	197128671	1,13005	2203	4300	6503	SO:0001587	stop_gained	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128671G>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2548C>T	1.37:g.197128671G>A	ENSP00000356375:p.Arg850*					ZBTB41_uc009wyz.1_RNA	p.R850*	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			10	2617	-			850					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Nonsense_Mutation	SNP	ENST00000367405.4	37	c.2548C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327008	0.95708	0.0	1.16E-4	ENSG00000177888	ENST00000367405	.	.	.	5.63	5.63	0.86233	.	0.000000	0.37261	N	0.002170	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6732	0.95918	0.0:0.0:1.0:0.0	.	.	.	.	X	850	.	ENSP00000356375:R850X	R	-	1	2	ZBTB41	195395294	1.000000	0.71417	0.994000	0.49952	0.656000	0.38851	3.868000	0.56055	2.657000	0.90304	0.591000	0.81541	CGA		0.458	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		32	61	0	0	0	0.003271	0	32	61				
LHX9	56956	broad.mit.edu	37	1	197890707	197890707	+	Missense_Mutation	SNP	C	C	A	rs576950776		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:197890707C>A	ENST00000367387.4	+	3	1076	c.651C>A	c.(649-651)aaC>aaA	p.N217K	LHX9_ENST00000337020.2_Missense_Mutation_p.N217K|LHX9_ENST00000367391.1_Missense_Mutation_p.N208K|LHX9_ENST00000367390.3_Missense_Mutation_p.N208K|LHX9_ENST00000561173.1_Missense_Mutation_p.N223K	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	217					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTTACTTCAACGGTACGGGCA	0.632																																							uc001guk.1		NA																	0				ovary(1)	1						c.(649-651)AAC>AAA		LIM homeobox 9 isoform 1							28.0	27.0	28.0					1																	197890707		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890707C>A	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.651C>A	1.37:g.197890707C>A	ENSP00000356357:p.Asn217Lys					LHX9_uc001gui.1_Missense_Mutation_p.N208K|LHX9_uc001guj.1_Missense_Mutation_p.N223K	p.N217K	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			3	1088	+			217					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.651C>A	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206255	0.22205	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	T;D;T;D	0.88277	0.6;-2.35;0.51;-2.36	5.65	-7.68	0.01268	.	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	M	0.78637	2.42	0.58432	D	0.999997	P;D;B	0.57257	0.771;0.979;0.289	B;P;B	0.55749	0.326;0.783;0.15	D	0.92072	0.5665	10	0.62326	D	0.03	.	17.8546	0.88759	0.0:0.3387:0.0:0.6613	.	217;208;208	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	K	208;208;217;217	ENSP00000356361:N208K;ENSP00000356360:N208K;ENSP00000337969:N217K;ENSP00000356357:N217K	ENSP00000337969:N217K	N	+	3	2	LHX9	196157330	0.014000	0.17966	0.016000	0.15963	0.056000	0.15407	-0.628000	0.05515	-2.564000	0.00472	-1.731000	0.00696	AAC		0.632	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		13	16	1	0	4.36969e-10	0.001855	5.78294e-10	13	16				
PPP1R12B	4660	broad.mit.edu	37	1	202462446	202462446	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:202462446G>T	ENST00000608999.1	+	15	2298		c.e15+1		PPP1R12B_ENST00000391959.3_Splice_Site|PPP1R12B_ENST00000290419.5_Splice_Site|PPP1R12B_ENST00000336894.4_Splice_Site|PPP1R12B_ENST00000367270.4_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGATGAAGAGGTGAGCTCATT	0.532																																							uc001gya.1		NA																	0				ovary(3)	3						c.e15+1		protein phosphatase 1, regulatory (inhibitor)							18.0	19.0	19.0					1																	202462446		2203	4299	6502	SO:0001630	splice_region_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202462446G>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2145+1G>T	1.37:g.202462446G>T						PPP1R12B_uc001gxz.1_Splice_Site_p.E715_splice|PPP1R12B_uc001gyb.1_Splice_Site|PPP1R12B_uc001gyc.1_Splice_Site	p.E715_splice	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		15	2289	+								A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Splice_Site	SNP	ENST00000608999.1	37	c.2145_splice	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285858	0.80803	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6933	0.85327	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP1R12B	200729069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.878000	0.69682	2.674000	0.91012	0.655000	0.94253	.		0.532	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	Intron	17	1	1	0	5.03518e-11	0.007413	6.96126e-11	17	1				
ZC3H11A	9877	broad.mit.edu	37	1	203798748	203798748	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:203798748A>G	ENST00000545588.1	+	5	4295	c.468A>G	c.(466-468)gtA>gtG	p.V156V	ZC3H11A_ENST00000367214.1_Silent_p.V156V|ZC3H11A_ENST00000367210.1_Silent_p.V156V|ZC3H11A_ENST00000332127.4_Silent_p.V156V|ZC3H11A_ENST00000367212.3_Silent_p.V156V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	156					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCAGTTGTAATTAATGCTG	0.438																																							uc001hac.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(466-468)GTA>GTG		zinc finger CCCH-type containing 11A							143.0	136.0	138.0					1																	203798748		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203798748A>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.468A>G	1.37:g.203798748A>G						ZC3H11A_uc001had.2_Silent_p.V156V|ZC3H11A_uc001hae.2_Silent_p.V156V|ZC3H11A_uc001haf.2_Silent_p.V156V|ZC3H11A_uc010pqm.1_Silent_p.V102V|ZC3H11A_uc001hag.1_Silent_p.V156V	p.V156V	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		8	1084	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		156					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.468A>G	CCDS30978.1																																																																																				0.438	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		70	13	0	0	0	0.00361	0	70	13				
LRRN2	10446	broad.mit.edu	37	1	204588013	204588013	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:204588013G>T	ENST00000367175.1	-	1	3320	c.1108C>A	c.(1108-1110)Ccc>Acc	p.P370T	LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Missense_Mutation_p.P370T|LRRN2_ENST00000367177.3_Missense_Mutation_p.P370T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	370	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			CAGCGGATGGGGTTGCCGTGG	0.632																																							uc001hbe.1		NA																	0				central_nervous_system(2)	2						c.(1108-1110)CCC>ACC		leucine rich repeat neuronal 2 precursor							72.0	74.0	73.0					1																	204588013		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588013G>T	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.1108C>A	1.37:g.204588013G>T	ENSP00000356143:p.Pro370Thr					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P370T|LRRN2_uc009xbf.1_Missense_Mutation_p.P370T|MDM4_uc001hbc.2_Intron	p.P370T	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	1496	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		370			Extracellular (Potential).|LRRCT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1108C>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543871	0.65198	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.57907	0.37;0.37;0.37	5.69	4.78	0.61160	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.42821	D	0.000647	T	0.75042	0.3796	M	0.84511	2.7	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.80127	-0.1512	10	0.87932	D	0	.	14.7059	0.69189	0.071:0.0:0.929:0.0	.	370	O75325	LRRN2_HUMAN	T	370	ENSP00000356144:P370T;ENSP00000356145:P370T;ENSP00000356143:P370T	ENSP00000356143:P370T	P	-	1	0	LRRN2	202854636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.866000	0.99616	1.401000	0.46761	0.563000	0.77884	CCC		0.632	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		39	12	1	0	4.14481e-20	0.00623	7.2331e-20	39	12				
NFASC	23114	broad.mit.edu	37	1	204957917	204957917	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:204957917C>A	ENST00000401399.1	+	22	2949	c.2750C>A	c.(2749-2751)cCa>cAa	p.P917Q	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338586.6_Missense_Mutation_p.P1024Q|NFASC_ENST00000367170.4_Missense_Mutation_p.P1024Q|NFASC_ENST00000539706.1_Missense_Mutation_p.P1020Q|NFASC_ENST00000367169.4_Missense_Mutation_p.P917Q|NFASC_ENST00000338515.6_Missense_Mutation_p.P1024Q|NFASC_ENST00000360049.4_Missense_Mutation_p.P1020Q|NFASC_ENST00000404907.1_Missense_Mutation_p.P1020Q|NFASC_ENST00000367171.4_Missense_Mutation_p.P1009Q|NFASC_ENST00000513543.1_Missense_Mutation_p.P1020Q|NFASC_ENST00000367172.4_Missense_Mutation_p.P1024Q|NFASC_ENST00000404076.1_Missense_Mutation_p.P1003Q|NFASC_ENST00000339876.6_Missense_Mutation_p.P917Q			O94856	NFASC_HUMAN	neurofascin	926	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAGGAGTCACCAGCACCCCCG	0.592																																							uc001hbj.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2749-2751)CCA>CAA		neurofascin isoform 1 precursor							65.0	65.0	65.0					1																	204957917		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204957917C>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2750C>A	1.37:g.204957917C>A	ENSP00000385637:p.Pro917Gln					NFASC_uc010pra.1_Missense_Mutation_p.P1020Q|NFASC_uc001hbi.2_Missense_Mutation_p.P1020Q|NFASC_uc010prb.1_Missense_Mutation_p.P1035Q|NFASC_uc010prc.1_Missense_Mutation_p.P591Q|NFASC_uc001hbk.1_Missense_Mutation_p.P830Q|NFASC_uc001hbl.1_Missense_Mutation_p.P167Q|NFASC_uc001hbm.1_Missense_Mutation_p.P63Q|NFASC_uc001hbn.1_Missense_Mutation_p.P63Q	p.P917Q	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		23	3078	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.2750C>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.32|15.32	2.798739|2.798739	0.50208|0.50208	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173;ENST00000425360	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.66099|.	-0.1;-0.19;-0.09;-0.07;-0.18;-0.08;-0.05;-0.06;-0.12;-0.15;-0.18;-0.05;-0.06;-0.03|.	5.57|5.57	4.66|4.66	0.58398|0.58398	Fibronectin, type III (2);|.	0.000000|.	0.49305|.	D|.	0.000160|.	T|T	0.68421|0.68421	0.2999|0.2999	M|M	0.72479|0.72479	2.2|2.2	0.34965|0.34965	D|D	0.752562|0.752562	P;D;B;D;B;B;B;D;D|.	0.89917|.	0.877;0.993;0.013;1.0;0.36;0.407;0.067;0.997;0.992|.	B;D;B;D;B;B;B;D;P|.	0.87578|.	0.32;0.964;0.043;0.998;0.135;0.242;0.064;0.925;0.898|.	T|T	0.77191|0.77191	-0.2678|-0.2678	10|5	0.27082|.	T|.	0.32|.	.|.	14.1831|14.1831	0.65588|0.65588	0.0:0.9273:0.0:0.0727|0.0:0.9273:0.0:0.0727	.|.	1024;1035;1020;1024;1024;917;1009;917;1020|.	O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.;.;.|.	Q|K	1024;1009;1024;1024;917;1024;1035;1020;1020;917;1003;917;1020;1020;1011|887;149	ENSP00000356140:P1024Q;ENSP00000356139:P1009Q;ENSP00000356138:P1024Q;ENSP00000342128:P1024Q;ENSP00000344786:P917Q;ENSP00000343509:P1024Q;ENSP00000438614:P1020Q;ENSP00000353154:P1020Q;ENSP00000356137:P917Q;ENSP00000385676:P1003Q;ENSP00000385637:P917Q;ENSP00000384061:P1020Q;ENSP00000425908:P1020Q;ENSP00000415031:P1011Q|.	ENSP00000295776:P1035Q|.	P|Q	+|+	2|1	0|0	NFASC|NFASC	203224540|203224540	1.000000|1.000000	0.71417|0.71417	0.168000|0.168000	0.22838|0.22838	0.502000|0.502000	0.33828|0.33828	7.440000|7.440000	0.80464|0.80464	1.339000|1.339000	0.45563|0.45563	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.592	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		35	8	1	0	2.32173e-10	0.004878	3.11607e-10	35	8				
TRAF3IP3	80342	broad.mit.edu	37	1	209933636	209933636	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:209933636C>A	ENST00000367024.1	+	3	768	c.252C>A	c.(250-252)gcC>gcA	p.A84A	TRAF3IP3_ENST00000367026.3_Silent_p.A84A|TRAF3IP3_ENST00000367025.3_Silent_p.A84A|TRAF3IP3_ENST00000400959.3_Silent_p.A84A|TRAF3IP3_ENST00000010338.4_Silent_p.A84A			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	84						integral component of membrane (GO:0016021)		p.A84A(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)		ATCCCCAGGCCAGGGAGCAAG	0.602																																							uc001hho.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(250-252)GCC>GCA		TRAF3-interacting JNK-activating modulator							30.0	32.0	31.0					1																	209933636		2203	4300	6503	SO:0001819	synonymous_variant	80342					integral to membrane	protein binding	g.chr1:209933636C>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.252C>A	1.37:g.209933636C>A						TRAF3IP3_uc001hhl.2_Silent_p.A84A|TRAF3IP3_uc001hhm.1_Silent_p.A84A|TRAF3IP3_uc001hhn.2_Silent_p.A84A|TRAF3IP3_uc009xcr.2_Silent_p.A84A	p.A84A	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	542	+			84			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.252C>A	CCDS1490.2																																																																																				0.602	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			9	5	1	0	0.000442599	0.006214	0.000474237	9	5				
HHAT	55733	broad.mit.edu	37	1	210577926	210577926	+	Missense_Mutation	SNP	C	C	T	rs376601925		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:210577926C>T	ENST00000367010.1	+	6	814	c.587C>T	c.(586-588)tCg>tTg	p.S196L	HHAT_ENST00000261458.3_Missense_Mutation_p.S196L|HHAT_ENST00000391905.3_Missense_Mutation_p.S196L|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000545781.1_Missense_Mutation_p.S133L|HHAT_ENST00000545154.1_Missense_Mutation_p.S197L|HHAT_ENST00000537898.1_Missense_Mutation_p.S131L|HHAT_ENST00000308852.6_Missense_Mutation_p.S151L|HHAT_ENST00000413764.2_Missense_Mutation_p.S196L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	196					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)			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)		CCTGCTGCATCGACCTCCTAC	0.532																																							uc009xcx.2		NA																	0				ovary(2)	2						c.(586-588)TCG>TTG		hedgehog acyltransferase		C	LEU/SER,,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	105.0	94.0	97.0		587,,587,590,392,587	1.1	0.0	1		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense,missense,missense,missense	HHAT	NM_001122834.2,NM_001170564.1,NM_001170580.1,NM_001170587.1,NM_001170588.1,NM_018194.4	145,,145,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,,benign,benign,benign,benign	196/494,,196/494,197/495,131/429,196/494	210577926	1,13005	2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210577926C>T	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.587C>T	1.37:g.210577926C>T	ENSP00000355977:p.Ser196Leu					HHAT_uc010psq.1_Intron|HHAT_uc001hhz.3_Missense_Mutation_p.S196L|HHAT_uc010psr.1_Missense_Mutation_p.S197L|HHAT_uc010pss.1_Missense_Mutation_p.S151L|HHAT_uc009xcy.2_Missense_Mutation_p.S131L|HHAT_uc010pst.1_Missense_Mutation_p.S133L|HHAT_uc010psu.1_Missense_Mutation_p.S131L	p.S196L	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	753	+			196					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.587C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	2.251	-0.371568	0.05034	0.0	1.16E-4	ENSG00000054392	ENST00000413764;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.54	1.14	0.20703	.	1.346250	0.05365	N	0.534479	T	0.42832	0.1220	N	0.04959	-0.14	0.09310	N	1	B;B;B;B	0.28880	0.075;0.226;0.071;0.075	B;B;B;B	0.18871	0.023;0.02;0.008;0.023	T	0.22765	-1.0207	10	0.24483	T	0.36	0.9192	1.348	0.02167	0.3239:0.2425:0.313:0.1205	.	151;197;131;196	B7Z2U8;F5H444;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	L	196;197;131;196;133;196;151;196;68	ENSP00000416845:S196L;ENSP00000438468:S197L;ENSP00000442625:S131L;ENSP00000375773:S196L;ENSP00000439229:S133L;ENSP00000261458:S196L;ENSP00000308628:S151L;ENSP00000355977:S196L;ENSP00000413399:S68L	ENSP00000261458:S196L	S	+	2	0	HHAT	208644549	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.397000	0.20883	-0.056000	0.13221	-0.226000	0.12346	TCG		0.532	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		42	4	0	0	0	0.00361	0	42	4				
HHIPL2	79802	broad.mit.edu	37	1	222700385	222700385	+	Silent	SNP	C	C	A	rs371880738		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:222700385C>A	ENST00000343410.6	-	7	1789	c.1731G>T	c.(1729-1731)ctG>ctT	p.L577L	HHIPL2_ENST00000473144.1_5'Flank	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	577					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCAGGAAATACAGCTCCCCTA	0.443																																							uc001hnh.1		NA																	0				ovary(1)	1						c.(1729-1731)CTG>CTT		HHIP-like 2 precursor							92.0	75.0	81.0					1																	222700385		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222700385C>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1731G>T	1.37:g.222700385C>A							p.L577L	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	7	1789	-			577					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.1731G>T	CCDS1530.2																																																																																				0.443	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		9	2	1	0	0.000442599	0.006214	0.000474237	9	2				
EPHX1	2052	broad.mit.edu	37	1	226032925	226032925	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:226032925C>A	ENST00000366837.4	+	9	1441	c.1245C>A	c.(1243-1245)ttC>ttA	p.F415L	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.F415L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	415					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGGTGAGGTTCAAGTACCCAA	0.557																																							uc001hpk.2		NA																	0				ovary(3)|lung(1)	4						c.(1243-1245)TTC>TTA		epoxide hydrolase 1							98.0	90.0	93.0					1																	226032925		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226032925C>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1245C>A	1.37:g.226032925C>A	ENSP00000355802:p.Phe415Leu					EPHX1_uc001hpl.2_Missense_Mutation_p.F415L	p.F415L	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			9	1325	+	Breast(184;0.197)		415					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.1245C>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	6.513	0.462947	0.12402	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.07567	3.18;3.18	5.0	3.0	0.34707	.	3.023980	0.00805	N	0.001453	T	0.04679	0.0127	N	0.02721	-0.515	0.19945	N	0.999946	B	0.02656	0.0	B	0.01281	0.0	T	0.12604	-1.0541	10	0.27785	T	0.31	0.0749	8.0488	0.30566	0.1392:0.5044:0.3564:0.0	.	415	P07099	HYEP_HUMAN	L	415	ENSP00000272167:F415L;ENSP00000355802:F415L	ENSP00000272167:F415L	F	+	3	2	EPHX1	224099548	0.982000	0.34865	0.939000	0.37840	0.204000	0.24138	1.957000	0.40392	2.480000	0.83734	0.462000	0.41574	TTC		0.557	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		27	13	1	0	7.41945e-09	0.005443	9.4081e-09	27	13				
TRIM67	440730	broad.mit.edu	37	1	231342533	231342533	+	Missense_Mutation	SNP	G	G	A	rs372935882		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:231342533G>A	ENST00000366653.5	+	7	1816	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	TRIM67_ENST00000366652.2_Missense_Mutation_p.D606N|TRIM67_ENST00000449018.3_Missense_Mutation_p.D544N|TRIM67_ENST00000444294.3_Missense_Mutation_p.D604N			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	606	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCAGACATCCGATGGTGAGCA	0.502																																							uc009xfn.1		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1816-1818)GAT>AAT		tripartite motif-containing 67		G	ASN/ASP	0,4002		0,0,2001	66.0	70.0	69.0		1816	5.5	0.6	1		69	1,8381		0,1,4190	no	missense	TRIM67	NM_001004342.3	23	0,1,6191	AA,AG,GG		0.0119,0.0,0.0081	benign	606/784	231342533	1,12383	2001	4191	6192	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231342533G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1816G>A	1.37:g.231342533G>A	ENSP00000355613:p.Asp606Asn						p.D606N	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			7	1858	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	606			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1816G>A	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314571	0.81358	0.0	1.19E-4	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Fibronectin, type III (1);B30.2/SPRY domain (1);Immunoglobulin-like fold (1);	0.049500	0.85682	D	0.000000	T	0.59891	0.2227	N	0.24115	0.695	0.80722	D	1	B	0.31009	0.303	B	0.24848	0.056	T	0.59300	-0.7480	10	0.48119	T	0.1	.	19.7611	0.96319	0.0:0.0:1.0:0.0	.	606	Q6ZTA4	TRI67_HUMAN	N	604;606;544;606	ENSP00000412124:D604N;ENSP00000355612:D606N;ENSP00000400163:D544N;ENSP00000355613:D606N	ENSP00000355612:D606N	D	+	1	0	TRIM67	229409156	1.000000	0.71417	0.578000	0.28575	0.546000	0.35178	9.658000	0.98594	2.741000	0.93983	0.655000	0.94253	GAT		0.502	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		14	3	0	0	0	0.001855	0	14	3				
FMN2	56776	broad.mit.edu	37	1	240370313	240370313	+	Missense_Mutation	SNP	G	G	A	rs140911005	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:240370313G>A	ENST00000319653.9	+	5	2431	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	734					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGGAAGTACGGCATCATAGG	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		18522	0.001		0.001	False		,,,				2504	0.0						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2200-2202)CGG>CAG		formin 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	60.0	60.0		2201	-3.3	0.0	1	dbSNP_134	60	7,8593	5.7+/-21.5	0,7,4293	yes	missense	FMN2	NM_020066.4	43	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	benign	734/1723	240370313	8,12998	2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370313G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2201G>A	1.37:g.240370313G>A	ENSP00000318884:p.Arg734Gln					FMN2_uc010pye.1_Missense_Mutation_p.R738Q	p.R734Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2426	+	Ovarian(103;0.127)	all_cancers(173;0.013)	734					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2201G>A	CCDS31069.2	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	4.553	0.102751	0.08731	2.27E-4	8.14E-4	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.25414	1.8	4.96	-3.35	0.04928	.	1.713730	0.03208	N	0.175754	T	0.11153	0.0272	N	0.04043	-0.29	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.18840	-1.0324	10	0.27082	T	0.32	.	5.5149	0.16900	0.6357:0.0927:0.1365:0.1351	.	734	Q9NZ56	FMN2_HUMAN	Q	171;734	ENSP00000318884:R734Q	ENSP00000318884:R734Q	R	+	2	0	FMN2	238436936	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.982000	0.01489	-0.946000	0.03677	-0.140000	0.14226	CGG		0.557	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		13	5	0	0	0	0.001368	0	13	5				
EXO1	9156	broad.mit.edu	37	1	242021860	242021860	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:242021860G>T	ENST00000366548.3	+	8	1189	c.596G>T	c.(595-597)cGg>cTg	p.R199L	EXO1_ENST00000518483.1_Missense_Mutation_p.R199L|EXO1_ENST00000348581.5_Missense_Mutation_p.R199L|EXO1_ENST00000493702.1_Intron	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	199	I-domain.|Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GATCAAGCTCGGCTAGGAATG	0.423								Editing and processing nucleases																															uc001hzh.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(595-597)CGG>CTG	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							201.0	181.0	188.0					1																	242021860		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242021860G>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.596G>T	1.37:g.242021860G>T	ENSP00000355506:p.Arg199Leu					EXO1_uc001hzi.2_Missense_Mutation_p.R199L|EXO1_uc001hzj.2_Missense_Mutation_p.R199L|EXO1_uc009xgq.2_Missense_Mutation_p.R199L	p.R199L	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		8	1136	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	199			I-domain.|Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.596G>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798956	0.70567	.	.	ENSG00000174371	ENST00000366548;ENST00000423131;ENST00000348581;ENST00000366547;ENST00000518483;ENST00000437497	T;T;T;T;T	0.70164	-0.46;-0.09;-0.46;-0.46;-0.1	5.19	4.26	0.50523	XPG/RAD2 endonuclease (2);	0.119337	0.64402	D	0.000019	T	0.73305	0.3570	L	0.38175	1.15	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.991;0.976;0.969	T	0.74490	-0.3648	10	0.52906	T	0.07	-15.2918	13.6538	0.62327	0.0771:0.0:0.9229:0.0	.	199;199;199	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	L	199;159;199;159;199;156	ENSP00000355506:R199L;ENSP00000415531:R159L;ENSP00000311873:R199L;ENSP00000430251:R199L;ENSP00000412041:R156L	ENSP00000311873:R199L	R	+	2	0	EXO1	240088483	1.000000	0.71417	0.966000	0.40874	0.711000	0.40976	4.406000	0.59748	1.167000	0.42706	0.585000	0.79938	CGG		0.423	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		40	5	1	0	2.68985e-26	0.00361	5.09355e-26	40	5				
AKT3	10000	broad.mit.edu	37	1	243727068	243727068	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:243727068G>T	ENST00000366539.1	-	10	1102	c.902C>A	c.(901-903)gCc>gAc	p.A301D	AKT3_ENST00000263826.5_Missense_Mutation_p.A301D|AKT3_ENST00000336199.5_Missense_Mutation_p.A301D|AKT3_ENST00000366540.1_Missense_Mutation_p.A301D			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTTCATGGTGGCTGCATCTGT	0.393																																							uc001iab.1		NA																	0				stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(901-903)GCC>GAC		AKT3 kinase isoform 1							170.0	156.0	161.0					1																	243727068		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243727068G>T	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.902C>A	1.37:g.243727068G>T	ENSP00000355497:p.Ala301Asp					AKT3_uc001hzz.1_Missense_Mutation_p.A301D	p.A301D	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		9	983	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	301			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.902C>A	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029537	0.35797	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39064	0.1064	N	0.03983	-0.305	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12837	0.008;0.002	T	0.44757	-0.9307	10	0.02654	T	1	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	301;301	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	D	301	ENSP00000336943:A301D;ENSP00000355498:A301D;ENSP00000355497:A301D;ENSP00000263826:A301D	ENSP00000263826:A301D	A	-	2	0	AKT3	241793691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.789000	0.95967	0.591000	0.81541	GCC		0.393	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		40	8	1	0	7.63091e-17	0.007835	1.23342e-16	40	8				
OR1C1	26188	broad.mit.edu	37	1	247921270	247921270	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:247921270C>G	ENST00000408896.2	-	1	712	c.439G>C	c.(439-441)Gga>Cga	p.G147R		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	147					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)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGCCACAGTCCAGCCACTAGC	0.493																																							uc010pza.1		NA																	0				skin(1)	1						c.(439-441)GGA>CGA		olfactory receptor, family 1, subfamily C,							56.0	56.0	56.0					1																	247921270		2027	4194	6221	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921270C>G	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.439G>C	1.37:g.247921270C>G	ENSP00000386138:p.Gly147Arg						p.G147R	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	439	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	147			Helical; Name=4; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.439G>C	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	4.729	0.135580	0.09032	.	.	ENSG00000221888	ENST00000408896	T	0.01963	4.53	3.19	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.06416	0.0165	M	0.85945	2.785	0.09310	N	1	B	0.18863	0.031	B	0.30646	0.118	T	0.12167	-1.0558	9	0.72032	D	0.01	.	10.3807	0.44110	0.0:0.8972:0.0:0.1028	.	147	Q15619	OR1C1_HUMAN	R	147	ENSP00000386138:G147R	ENSP00000386138:G147R	G	-	1	0	OR1C1	245987893	0.000000	0.05858	0.037000	0.18230	0.595000	0.36748	-0.497000	0.06428	0.662000	0.31006	0.580000	0.79431	GGA		0.493	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			29	9	0	0	0	0.004289	0	29	9				
OR2L13	284521	broad.mit.edu	37	1	248262901	248262901	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:248262901C>A	ENST00000358120.2	+	2	369	c.224C>A	c.(223-225)aCc>aAc	p.T75N	OR2L13_ENST00000366478.2_Missense_Mutation_p.T75N			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	75						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)			TACATCTCCACCACCGTCCCC	0.542																																							uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(223-225)ACC>AAC		olfactory receptor, family 2, subfamily L,							231.0	207.0	215.0					1																	248262901		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262901C>A	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	ENST00000358120.2:c.224C>A	1.37:g.248262901C>A	ENSP00000350836:p.Thr75Asn						p.T75N	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	561	+	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)		75			Helical; Name=2; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.224C>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	5.446	0.267307	0.10294	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00441	7.41;7.41	4.07	-0.328	0.12690	GPCR, rhodopsin-like superfamily (1);	1.027280	0.07790	N	0.954782	T	0.00384	0.0012	L	0.49778	1.585	0.09310	N	1	P	0.48089	0.905	B	0.40940	0.344	T	0.52609	-0.8553	10	0.56958	D	0.05	.	8.989	0.36012	0.0:0.3308:0.5352:0.134	.	75	Q8N349	OR2LD_HUMAN	N	75	ENSP00000355434:T75N;ENSP00000350836:T75N	ENSP00000350836:T75N	T	+	2	0	OR2L13	246329524	0.000000	0.05858	0.021000	0.16686	0.575000	0.36095	-1.930000	0.01557	0.342000	0.23796	-0.172000	0.13284	ACC		0.542	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		87	19	1	0	5.14759e-42	0.00361	1.0748e-41	87	19				
OR2M2	391194	broad.mit.edu	37	1	248343692	248343692	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:248343692C>T	ENST00000359682.2	+	1	405	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			ATACCAATCTCATGAATCCTA	0.403																																							uc010pzf.1		NA																	0				ovary(3)|skin(1)	4						c.(403-405)CTC>CTT		olfactory receptor, family 2, subfamily M,							218.0	226.0	223.0					1																	248343692		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343692C>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.405C>T	1.37:g.248343692C>T							p.L135L	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	405	+	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)		135			Cytoplasmic (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.405C>T	CCDS31106.1																																																																																				0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		113	36	0	0	0	0.00361	0	113	36				
OR2T35	403244	broad.mit.edu	37	1	248801912	248801912	+	Silent	SNP	C	C	G	rs1770044	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|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;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542																																							uc001ies.1		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(646-648)GTG>GTC		olfactory receptor, family 2, subfamily T,							132.0	107.0	115.0					1																	248801912		2057	4250	6307	SO:0001819	synonymous_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801912C>G	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.648G>C	1.37:g.248801912C>G							p.V216V	NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	648	-	all_cancers(71;2.04e-05)|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;0.237)	216			Helical; Name=5; (Potential).		Q6IEY7	Silent	SNP	ENST00000317450.3	37	c.648G>C	CCDS31123.1																																																																																				0.542	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		3	62	0	0	0	0.009096	0	3	62				
ITIH5	80760	broad.mit.edu	37	10	7621837	7621837	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:7621837G>A	ENST00000256861.6	-	9	1377	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	ITIH5_ENST00000397145.2_Silent_p.I433I|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.I219I|ITIH5_ENST00000397146.2_Silent_p.I433I|ITIH5_ENST00000446830.2_Silent_p.I215I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	433	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAATGGTGAAGATGCAGACTT	0.617																																							uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1297-1299)ATC>ATT		inter-alpha trypsin inhibitor heavy chain							132.0	118.0	123.0					10																	7621837		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621837G>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.1299C>T	10.37:g.7621837G>A						ITIH5_uc001ijp.2_Silent_p.I219I|ITIH5_uc001ijr.1_Silent_p.I433I	p.I433I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			9	1378	-			433			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1299C>T																																																																																					0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		23	15	0	0	0	0.00333	0	23	15				
GATA3	2625	broad.mit.edu	37	10	8111517	8111517	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:8111517G>C	ENST00000346208.3	+	5	1458	c.1003G>C	c.(1003-1005)Gac>Cac	p.D335H	GATA3_ENST00000379328.3_Missense_Mutation_p.D336H|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	335					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.D336fs*17(3)		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						TGCCAATGGGGACCCTGTCTG	0.562			"""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		3	Insertion - Frameshift(3)	p.D336fs*17(1)	breast(3)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(1003-1005)GAC>CAC		GATA binding protein 3 isoform 2							168.0	117.0	134.0					10																	8111517		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.chr10:8111517G>C	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.1003G>C	10.37:g.8111517G>C	ENSP00000341619:p.Asp335His					GATA3_uc001ijz.2_Missense_Mutation_p.D336H	p.D335H	NM_002051	NP_002042	P23771	GATA3_HUMAN			5	1560	+			335			GATA-type 2.		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1003G>C	CCDS7083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.731162|4.731162	0.89390|0.89390	.|.	.|.	ENSG00000107485|ENSG00000107485	ENST00000544011|ENST00000379328;ENST00000346208	.|D;D	.|0.99413	.|-5.86;-5.86	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.99036	.|0.9670	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.936	.|D;P	.|0.91635	.|0.999;0.661	.|D	.|0.99930	.|1.1314	.|10	.|0.87932	.|D	.|0	.|-19.1323	19.1275|19.1275	0.93391|0.93391	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|335;336	.|P23771;P23771-2	.|GATA3_HUMAN;.	.|H	-1|336;335	.|ENSP00000368632:D336H;ENSP00000341619:D335H	.|ENSP00000341619:D335H	.|D	+|+	.|1	.|0	GATA3|GATA3	8151523|8151523	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.872000|0.872000	0.50106|0.50106	9.813000|9.813000	0.99286|0.99286	2.590000|2.590000	0.87494|0.87494	0.561000|0.561000	0.74099|0.74099	.|GAC		0.562	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		20	14	0	0	0	0.007413	0	20	14				
ITGA8	8516	broad.mit.edu	37	10	15573122	15573122	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:15573122G>A	ENST00000378076.3	-	28	3262	c.2909C>T	c.(2908-2910)tCc>tTc	p.S970F		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	970					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGACACCAGGGATGCAAGAGC	0.333																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(2908-2910)TCC>TTC		integrin, alpha 8 precursor							101.0	100.0	100.0					10																	15573122		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15573122G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2909C>T	10.37:g.15573122G>A	ENSP00000367316:p.Ser970Phe					ITGA8_uc010qcb.1_Missense_Mutation_p.S955F	p.S970F	NM_003638	NP_003629	P53708	ITA8_HUMAN			28	2909	-			970			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2909C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454829	0.63290	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.56776	0.44	5.64	5.64	0.86602	.	0.150101	0.64402	D	0.000007	T	0.66228	0.2768	M	0.82193	2.58	0.43714	D	0.99618	D;D	0.58970	0.984;0.973	P;P	0.57371	0.819;0.663	T	0.64689	-0.6348	10	0.09338	T	0.73	.	13.6001	0.62013	0.0753:0.0:0.9247:0.0	.	955;970	F5H818;P53708	.;ITA8_HUMAN	F	970;955	ENSP00000367316:S970F	ENSP00000367316:S970F	S	-	2	0	ITGA8	15613128	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	4.414000	0.59802	2.651000	0.90000	0.643000	0.83706	TCC		0.333	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		12	29	0	0	0	0.000978	0	12	29				
VIM	7431	broad.mit.edu	37	10	17276749	17276749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:17276749C>T	ENST00000224237.5	+	5	1085	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	VIM_ENST00000544301.1_Nonsense_Mutation_p.Q314*|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	314	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGGCAAAGCAGGAGTCCAC	0.517																																							uc001iou.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(940-942)CAG>TAG		vimentin							93.0	87.0	89.0					10																	17276749		2203	4300	6503	SO:0001587	stop_gained	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17276749C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.940C>T	10.37:g.17276749C>T	ENSP00000224237:p.Gln314*					VIM_uc001iov.1_Nonsense_Mutation_p.Q314*|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Nonsense_Mutation_p.Q314*|VIM_uc001ioy.1_Nonsense_Mutation_p.Q314*|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Nonsense_Mutation_p.Q314*	p.Q314*	NM_003380	NP_003371	P08670	VIME_HUMAN			6	1353	+			314			Rod.|Coil 2.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Nonsense_Mutation	SNP	ENST00000224237.5	37	c.940C>T	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	40	7.922936	0.98563	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	.	.	.	6.05	6.05	0.98169	.	0.000000	0.44285	D	0.000464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.6031	0.99464	0.0:1.0:0.0:0.0	.	.	.	.	X	314;314;301;140	.	ENSP00000224237:Q314X	Q	+	1	0	VIM	17316755	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.968000	0.70413	2.881000	0.98747	0.637000	0.83480	CAG		0.517	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		43	21	0	0	0	0.00874	0	43	21				
PLXDC2	84898	broad.mit.edu	37	10	20506453	20506453	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:20506453T>C	ENST00000377252.4	+	11	2062	c.1221T>C	c.(1219-1221)acT>acC	p.T407T	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.T358T	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	407	Thr-rich.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGGTCCTAACTACCACCAGAA	0.423																																							uc001iqg.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1219-1221)ACT>ACC		plexin domain containing 2 precursor							107.0	96.0	100.0					10																	20506453		2203	4300	6503	SO:0001819	synonymous_variant	84898					integral to membrane		g.chr10:20506453T>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1221T>C	10.37:g.20506453T>C						PLXDC2_uc001iqh.1_Silent_p.T358T|PLXDC2_uc009xkc.1_RNA	p.T407T	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			11	1858	+			407			Extracellular (Potential).|Thr-rich.		Q96E59|Q96PD9|Q96SU9	Silent	SNP	ENST00000377252.4	37	c.1221T>C	CCDS7132.1																																																																																				0.423	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		17	7	0	0	0	0.008871	0	17	7				
PLXDC2	84898	broad.mit.edu	37	10	20534321	20534321	+	Missense_Mutation	SNP	G	G	T	rs140442189		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:20534321G>T	ENST00000377252.4	+	13	2201	c.1360G>T	c.(1360-1362)Gct>Tct	p.A454S	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.A405S	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	454					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AACCCTCCACGCTGGCCTCAT	0.498																																							uc001iqg.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1360-1362)GCT>TCT		plexin domain containing 2 precursor							180.0	158.0	165.0					10																	20534321		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20534321G>T	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1360G>T	10.37:g.20534321G>T	ENSP00000366460:p.Ala454Ser					PLXDC2_uc001iqh.1_Missense_Mutation_p.A405S|PLXDC2_uc009xkc.1_RNA	p.A454S	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			13	1997	+			454			Extracellular (Potential).		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1360G>T	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620526	0.46736	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.22743	1.94;1.96	5.9	5.9	0.94986	.	0.155993	0.64402	D	0.000013	T	0.15478	0.0373	L	0.47716	1.5	0.39830	D	0.972964	P;P	0.38370	0.628;0.495	B;B	0.35470	0.203;0.07	T	0.03335	-1.1047	10	0.06365	T	0.9	.	10.6125	0.45429	0.142:0.0:0.858:0.0	.	405;454	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	S	454;405;317;440	ENSP00000366460:A454S;ENSP00000366450:A405S	ENSP00000366446:A317S	A	+	1	0	PLXDC2	20574327	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.790000	0.47821	2.808000	0.96608	0.650000	0.86243	GCT		0.498	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		20	30	1	0	3.99206e-14	0.007413	6.01554e-14	20	30				
THNSL1	79896	broad.mit.edu	37	10	25313812	25313812	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:25313812A>T	ENST00000524413.1	+	3	2007	c.1660A>T	c.(1660-1662)Aga>Tga	p.R554*	THNSL1_ENST00000376356.4_Nonsense_Mutation_p.R554*			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	554						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	TCTAAGGGAAAGAAAACTAGC	0.343																																							uc001isi.3		NA																	0				pancreas(1)	1						c.(1660-1662)AGA>TGA		threonine synthase-like 1	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						51.0	54.0	53.0					10																	25313812		2203	4300	6503	SO:0001587	stop_gained	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25313812A>T	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1660A>T	10.37:g.25313812A>T	ENSP00000434887:p.Arg554*					ENKUR_uc001ish.1_Intron	p.R554*	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN			3	1989	+			554					B3KWL1|D3DRV3|Q5VV21	Nonsense_Mutation	SNP	ENST00000524413.1	37	c.1660A>T	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	A	39	7.611802	0.98390	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	.	.	.	5.94	5.94	0.96194	.	0.052148	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5978	16.3979	0.83621	1.0:0.0:0.0:0.0	.	.	.	.	X	554	.	ENSP00000365534:R554X	R	+	1	2	THNSL1	25353818	1.000000	0.71417	0.984000	0.44739	0.771000	0.43674	4.978000	0.63799	2.279000	0.76181	0.459000	0.35465	AGA		0.343	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		10	26	0	0	0	0.006214	0	10	26				
GPR158	57512	broad.mit.edu	37	10	25840014	25840014	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:25840014G>T	ENST00000376351.3	+	6	1873	c.1514G>T	c.(1513-1515)aGg>aTg	p.R505M		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	505					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R505T(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAACTTCACAGGTATATACAT	0.408																																							uc001isj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1513-1515)AGG>ATG		G protein-coupled receptor 158 precursor							198.0	173.0	182.0					10																	25840014		2203	4300	6503	SO:0001630	splice_region_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25840014G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1514+1G>T	10.37:g.25840014G>T							p.R505M	NM_020752	NP_065803	Q5T848	GP158_HUMAN			6	1574	+			505			Helical; Name=3; (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1514G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864673	0.91511	.	.	ENSG00000151025	ENST00000376351	D	0.90197	-2.63	5.47	5.47	0.80525	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96762	0.9562	10	0.87932	D	0	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	505	Q5T848	GP158_HUMAN	M	505	ENSP00000365529:R505M	ENSP00000365529:R505M	R	+	2	0	GPR158	25880020	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.093000	0.94163	2.724000	0.93272	0.650000	0.86243	AGG		0.408	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Missense_Mutation	12	29	1	0	7.03913e-09	0.001368	8.96576e-09	12	29				
GPR158	57512	broad.mit.edu	37	10	25887098	25887098	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:25887098C>T	ENST00000376351.3	+	11	2902	c.2543C>T	c.(2542-2544)aCa>aTa	p.T848I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	848					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAATTCCACACTGGAATCC	0.493																																							uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2542-2544)ACA>ATA		G protein-coupled receptor 158 precursor							104.0	115.0	111.0					10																	25887098		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887098C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2543C>T	10.37:g.25887098C>T	ENSP00000365529:p.Thr848Ile					GPR158_uc001isk.2_Missense_Mutation_p.T223I	p.T848I	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2603	+			848			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2543C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773586	0.16051	.	.	ENSG00000151025	ENST00000376351	T	0.60040	0.22	5.79	3.72	0.42706	.	0.543095	0.17514	N	0.171500	T	0.26011	0.0634	N	0.02011	-0.69	0.09310	N	0.99999	B	0.02656	0.0	B	0.06405	0.002	T	0.07214	-1.0784	10	0.37606	T	0.19	.	4.2825	0.10839	0.0:0.5535:0.0:0.4465	.	848	Q5T848	GP158_HUMAN	I	848	ENSP00000365529:T848I	ENSP00000365529:T848I	T	+	2	0	GPR158	25927104	0.415000	0.25416	0.005000	0.12908	0.151000	0.21798	3.211000	0.51137	1.455000	0.47813	0.650000	0.86243	ACA		0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		54	45	0	0	0	0.00361	0	54	45				
MYO3A	53904	broad.mit.edu	37	10	26446279	26446279	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:26446279A>T	ENST00000265944.5	+	26	3000	c.2834A>T	c.(2833-2835)cAa>cTa	p.Q945L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	945	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)			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						GTGGTGGGCCAACCTCATTTT	0.383																																							uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(2833-2835)CAA>CTA		myosin IIIA							148.0	142.0	144.0					10																	26446279		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.chr10:26446279A>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.2834A>T	10.37:g.26446279A>T	ENSP00000265944:p.Gln945Leu					MYO3A_uc009xko.1_Missense_Mutation_p.Q945L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.Q945L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			26	3194	+			945			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2834A>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234032	0.58886	.	.	ENSG00000095777	ENST00000265944	T	0.72505	-0.66	5.31	5.31	0.75309	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.78904	0.4357	M	0.88842	2.985	0.80722	D	1	B	0.22604	0.072	B	0.33121	0.158	T	0.79169	-0.1914	10	0.59425	D	0.04	.	15.5629	0.76262	1.0:0.0:0.0:0.0	.	945	Q8NEV4	MYO3A_HUMAN	L	945	ENSP00000265944:Q945L	ENSP00000265944:Q945L	Q	+	2	0	MYO3A	26486285	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.980000	0.63812	2.133000	0.65898	0.533000	0.62120	CAA		0.383	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		17	9	0	0	0	0.007413	0	17	9				
RBP3	5949	broad.mit.edu	37	10	48388110	48388110	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:48388110G>C	ENST00000224600.4	-	1	2881	c.2768C>G	c.(2767-2769)gCc>gGc	p.A923G	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	923	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TATGGAAAGGGCTTCGCTCAT	0.622																																							uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2767-2769)GCC>GGC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						59.0	55.0	56.0					10																	48388110		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388110G>C	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2768C>G	10.37:g.48388110G>C	ENSP00000224600:p.Ala923Gly						p.A923G	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2882	-			923			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2768C>G	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314382	0.60414	.	.	ENSG00000107618	ENST00000224600	T	0.64085	-0.08	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.82010	0.4944	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.84567	0.0653	10	0.87932	D	0	-31.5967	18.5233	0.90962	0.0:0.0:1.0:0.0	.	923	P10745	RET3_HUMAN	G	923	ENSP00000224600:A923G	ENSP00000224600:A923G	A	-	2	0	RBP3	48008116	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.170000	0.94795	2.640000	0.89533	0.655000	0.94253	GCC		0.622	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		19	16	0	0	0	0.006122	0	19	16				
RBP3	5949	broad.mit.edu	37	10	48388252	48388252	+	Missense_Mutation	SNP	C	C	G	rs138240045	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:48388252C>G	ENST00000224600.4	-	1	2739	c.2626G>C	c.(2626-2628)Gca>Cca	p.A876P	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	876	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.A876T(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACAGAGAGTGCGCCTCCGGCC	0.652																																							uc001jez.2		NA																	1	Substitution - Missense(1)		prostate(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2626-2628)GCA>CCA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						28.0	28.0	28.0					10																	48388252		2201	4296	6497	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388252C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2626G>C	10.37:g.48388252C>G	ENSP00000224600:p.Ala876Pro						p.A876P	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2740	-			876			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2626G>C	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249908	0.39797	.	.	ENSG00000107618	ENST00000224600	T	0.63580	-0.05	5.36	5.36	0.76844	Interphotoreceptor retinol-binding (2);	0.064458	0.64402	D	0.000012	T	0.75744	0.3891	M	0.71296	2.17	0.47308	D	0.999389	D	0.76494	0.999	D	0.68943	0.961	T	0.78186	-0.2302	10	0.87932	D	0	-24.1341	11.8508	0.52410	0.2779:0.7221:0.0:0.0	.	876	P10745	RET3_HUMAN	P	876	ENSP00000224600:A876P	ENSP00000224600:A876P	A	-	1	0	RBP3	48008258	0.995000	0.38212	0.890000	0.34922	0.794000	0.44872	3.290000	0.51755	2.526000	0.85167	0.563000	0.77884	GCA		0.652	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		8	11	0	0	0	0.004482	0	8	11				
RBP3	5949	broad.mit.edu	37	10	48388891	48388892	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:48388891_48388892GG>TT	ENST00000224600.4	-	1	2099_2100	c.1986_1987CC>AA	c.(1984-1989)gcCCtc>gcAAtc	p.L663I	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	663	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCCCGCAGGAGGGCACTGGTCT	0.668																																							uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1984-1989)GCCCTC>GCAATC		retinol-binding protein 3 precursor	Vitamin A(DB00162)																																			SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388891_48388892GG>TT	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1986_1987delinsTT	10.37:g.48388891_48388892delinsTT	ENSP00000224600:p.Leu663Ile						p.L663I	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2100_2101	-			663			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	DNP	ENST00000224600.4	37	c.1986_1987CC>AA	CCDS7218.1																																																																																				0.668	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		3	13	0	0	0	0.004672	0	3	13				
OGDHL	55753	broad.mit.edu	37	10	50964945	50964945	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:50964945G>T	ENST00000374103.4	-	3	337	c.252C>A	c.(250-252)ggC>ggA	p.G84G	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	84					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTGAGCAGAGCCAGAAAAGG	0.592																																							uc001jie.2		NA																	0				pancreas(1)	1						c.(250-252)GGC>GGA		oxoglutarate dehydrogenase-like isoform a							82.0	82.0	82.0					10																	50964945		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50964945G>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.252C>A	10.37:g.50964945G>T						OGDHL_uc009xog.2_Silent_p.G111G|OGDHL_uc010qgt.1_Intron|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_5'UTR	p.G84G	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			3	394	-			84					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.252C>A	CCDS7234.1																																																																																				0.592	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		17	20	1	0	2.48551e-13	0.00499	3.66014e-13	17	20				
PCDH15	65217	broad.mit.edu	37	10	55566681	55566681	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:55566681G>A	ENST00000373965.2	-	36	5107	c.4713C>T	c.(4711-4713)tcC>tcT	p.S1571S	PCDH15_ENST00000414778.1_Silent_p.S1568S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	422					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.S1568S(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)				GTCGAACAGGGGAAGCAACTT	0.458										HNSCC(58;0.16)																													uc010qhq.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4705-4707)TCC>TCT		protocadherin 15 isoform CD3-1 precursor							140.0	131.0	134.0					10																	55566681		1568	3581	5149	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566681G>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.4713C>T	10.37:g.55566681G>A		HNSCC(58;0.16)				PCDH15_uc010qhr.1_Silent_p.S1564S	p.S1569S	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	5102	-		Melanoma(3;0.117)|Lung SC(717;0.238)	422			Cadherin 4.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000373965.2	37	c.4707C>T																																																																																					0.458	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		69	47	0	0	0	0.00361	0	69	47				
ZNF365	22891	broad.mit.edu	37	10	64219554	64219554	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:64219554G>C	ENST00000410046.3	+	4	1259	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	ZNF365_ENST00000395255.3_Missense_Mutation_p.E327Q	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										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)					CCTGGAATTGGAGGTAAAGCC	0.557																																							uc001jmc.2		NA																	0				ovary(1)|skin(1)	2						c.(979-981)GAG>CAG		zinc finger protein 365 isoform C							43.0	36.0	39.0					10																	64219554		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64219554G>C	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	ENST00000410046.3:c.979G>C	10.37:g.64219554G>C	ENSP00000387091:p.Glu327Gln					ZNF365_uc001jmb.3_Missense_Mutation_p.E327Q	p.E327Q	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN			4	1294	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		Error:Variant_position_missing_in_Q70YC4_after_alignment						Missense_Mutation	SNP	ENST00000410046.3	37	c.979G>C	CCDS7264.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054902	0.36277	.	.	ENSG00000138311	ENST00000395255;ENST00000410046	.	.	.	4.31	-0.435	0.12279	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.001	T	0.19712	-1.0297	7	0.30078	T	0.28	.	3.6979	0.08371	0.4202:0.1901:0.3897:0.0	.	327;327	Q70YC5-3;Q70YC5-2	.;.	Q	327	.	ENSP00000378675:E327Q	E	+	1	0	ZNF365	63889560	0.000000	0.05858	0.001000	0.08648	0.280000	0.26924	-0.050000	0.11904	-0.069000	0.12931	0.655000	0.94253	GAG		0.557	ZNF365-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277038.1	NM_014951		4	2	0	0	0	0.000602	0	4	2				
MYPN	84665	broad.mit.edu	37	10	69881591	69881591	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:69881591C>A	ENST00000358913.5	+	2	884	c.396C>A	c.(394-396)ccC>ccA	p.P132P	MYPN_ENST00000373675.3_Silent_p.P132P|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Silent_p.P132P	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	132	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGAAAGCCCCCAGGAGGCAA	0.433																																							uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(394-396)CCC>CCA		myopalladin							43.0	42.0	43.0					10																	69881591		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69881591C>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.396C>A	10.37:g.69881591C>A						MYPN_uc001jnl.1_Silent_p.P132P|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Silent_p.P132P|MYPN_uc001jnp.1_Silent_p.P132P|MYPN_uc009xps.2_Silent_p.P132P|MYPN_uc009xpt.2_Silent_p.P132P|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	p.P132P	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			3	581	+			132			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.396C>A	CCDS7275.1																																																																																				0.433	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		14	10	1	0	1.15088e-07	0.004007	1.40192e-07	14	10				
COL13A1	1305	broad.mit.edu	37	10	71647246	71647246	+	Splice_Site	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:71647246C>G	ENST00000398978.3	+	7	1013	c.521C>G	c.(520-522)cCg>cGg	p.P174R	COL13A1_ENST00000517713.1_Splice_Site_p.P174R|COL13A1_ENST00000356340.3_Splice_Site_p.P174R|COL13A1_ENST00000398968.3_Splice_Site_p.P174R|COL13A1_ENST00000398974.3_Splice_Site_p.P162R|COL13A1_ENST00000520133.1_Splice_Site_p.P145R|COL13A1_ENST00000398969.3_Splice_Site_p.P136R|COL13A1_ENST00000398973.3_Splice_Site_p.P174R|COL13A1_ENST00000357811.3_Splice_Site_p.P174R|COL13A1_ENST00000398972.3_Splice_Site_p.P174R|COL13A1_ENST00000398971.3_Splice_Site_p.P174R|COL13A1_ENST00000354547.3_Splice_Site_p.P174R|COL13A1_ENST00000398966.3_Splice_Site_p.P174R|COL13A1_ENST00000520267.1_Splice_Site_p.P136R|COL13A1_ENST00000522165.1_Splice_Site_p.P174R|COL13A1_ENST00000398964.3_Splice_Site_p.P145R	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCTGGATTTCCGGTAAGTGGA	0.493																																							uc001jpr.1		NA																	0				ovary(1)	1						c.(520-522)CCG>CGG		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						127.0	136.0	133.0					10																	71647246		1891	4130	6021	SO:0001630	splice_region_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71647246C>G	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.522+1C>G	10.37:g.71647246C>G						COL13A1_uc001jqj.1_Missense_Mutation_p.P174R|COL13A1_uc001jps.1_Missense_Mutation_p.P145R|COL13A1_uc001jpt.1_Missense_Mutation_p.P174R|COL13A1_uc001jpu.1_Missense_Mutation_p.P174R|COL13A1_uc001jpv.1_Missense_Mutation_p.P174R|COL13A1_uc001jpx.1_Missense_Mutation_p.P174R|COL13A1_uc001jpw.1_Missense_Mutation_p.P162R|COL13A1_uc001jpy.1_Missense_Mutation_p.P153R|COL13A1_uc001jpz.1_Missense_Mutation_p.P136R|COL13A1_uc001jqa.1_Missense_Mutation_p.P136R|COL13A1_uc001jqc.1_Missense_Mutation_p.P174R|COL13A1_uc001jqb.1_Missense_Mutation_p.P145R|COL13A1_uc001jql.2_Missense_Mutation_p.P174R|COL13A1_uc001jqd.1_Missense_Mutation_p.P162R|COL13A1_uc001jqe.1_Missense_Mutation_p.P157R|COL13A1_uc001jqf.1_Missense_Mutation_p.P174R|COL13A1_uc001jqg.1_Missense_Mutation_p.P174R|COL13A1_uc001jqh.1_Missense_Mutation_p.P174R|COL13A1_uc001jqi.1_Missense_Mutation_p.P174R|COL13A1_uc010qjf.1_5'UTR|COL13A1_uc001jqk.1_Missense_Mutation_p.P34R	p.P174R	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			6	1057	+			174			Extracellular (Potential).|Triple-helical region 1 (COL1).			Missense_Mutation	SNP	ENST00000398978.3	37	c.521C>G	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557376	0.45590	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94046	-3.26;-3.26;-3.16;-3.26;-1.75;-3.34;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.34;-3.26;-3.26;-2.97	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000002	D	0.95030	0.8391	L	0.50919	1.6	0.43787	D	0.99632	D;D;D;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;0.998;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;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.996;0.999;0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.998	D	0.94364	0.7590	10	0.49607	T	0.09	-7.944	13.6033	0.62033	0.0:1.0:0.0:0.0	.	174;174;174;174;174;174;174;162;174;145;174;174;183;174;174;174;145;174	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	162;174;174;174;145;136;174;174;174;174;174;174;136;174;174;145	ENSP00000381946:P162R;ENSP00000381943:P174R;ENSP00000381940:P174R;ENSP00000381938:P174R;ENSP00000381936:P145R;ENSP00000381941:P136R;ENSP00000348695:P174R;ENSP00000381944:P174R;ENSP00000381945:P174R;ENSP00000381949:P174R;ENSP00000346553:P174R;ENSP00000350463:P174R;ENSP00000428057:P136R;ENSP00000430061:P174R;ENSP00000428342:P174R;ENSP00000430173:P145R	ENSP00000346553:P174R	P	+	2	0	COL13A1	71317252	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.300000	0.59079	2.665000	0.90641	0.591000	0.81541	CCG		0.493	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203	Missense_Mutation	6	7	0	0	0	0.00308	0	6	7				
COL13A1	1305	broad.mit.edu	37	10	71690197	71690197	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:71690197C>A	ENST00000398978.3	+	29	2031	c.1539C>A	c.(1537-1539)ccC>ccA	p.P513P	COL13A1_ENST00000517713.1_Silent_p.P491P|COL13A1_ENST00000356340.3_Silent_p.P513P|COL13A1_ENST00000398968.3_Silent_p.P494P|COL13A1_ENST00000398974.3_Silent_p.P501P|COL13A1_ENST00000520133.1_Silent_p.P462P|COL13A1_ENST00000398969.3_Silent_p.P456P|COL13A1_ENST00000398973.3_Silent_p.P513P|COL13A1_ENST00000357811.3_Silent_p.P491P|COL13A1_ENST00000398972.3_Silent_p.P513P|COL13A1_ENST00000398971.3_Silent_p.P513P|COL13A1_ENST00000354547.3_Silent_p.P491P|COL13A1_ENST00000398966.3_Silent_p.P491P|COL13A1_ENST00000520267.1_Silent_p.P456P|COL13A1_ENST00000522165.1_Silent_p.P494P|COL13A1_ENST00000398964.3_Silent_p.P484P	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CTCCTGGTCCCCAAGGCCCCC	0.552																																							uc001jpr.1		NA																	0				ovary(1)	1						c.(1537-1539)CCC>CCA		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						37.0	43.0	41.0					10																	71690197		1869	4096	5965	SO:0001819	synonymous_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71690197C>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1539C>A	10.37:g.71690197C>A						COL13A1_uc001jqj.1_Silent_p.P513P|COL13A1_uc001jps.1_Silent_p.P484P|COL13A1_uc001jpt.1_Silent_p.P472P|COL13A1_uc001jpu.1_Silent_p.P494P|COL13A1_uc001jpv.1_Silent_p.P513P|COL13A1_uc001jpx.1_Silent_p.P491P|COL13A1_uc001jpw.1_Silent_p.P460P|COL13A1_uc001jpy.1_Silent_p.P451P|COL13A1_uc001jpz.1_Silent_p.P456P|COL13A1_uc001jqa.1_Silent_p.P453P|COL13A1_uc001jqc.1_Silent_p.P513P|COL13A1_uc001jqb.1_Silent_p.P462P|COL13A1_uc001jql.2_Silent_p.P513P|COL13A1_uc001jqd.1_Silent_p.P501P|COL13A1_uc001jqe.1_Silent_p.P496P|COL13A1_uc001jqf.1_Silent_p.P494P|COL13A1_uc001jqg.1_Silent_p.P491P|COL13A1_uc001jqh.1_Silent_p.P513P|COL13A1_uc001jqi.1_Silent_p.P513P|COL13A1_uc010qjf.1_Silent_p.P303P	p.P513P	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			28	2075	+			513			Extracellular (Potential).|Triple-helical region 3 (COL3).			Silent	SNP	ENST00000398978.3	37	c.1539C>A	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	9.637	1.137980	0.21123	.	.	ENSG00000197467	ENST00000398975	D	0.96967	-4.19	4.75	-0.428	0.12306	.	0.000000	0.64402	D	0.000001	D	0.94905	0.8353	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.89931	0.4066	7	0.46703	T	0.11	0.1629	5.4134	0.16360	0.1356:0.3754:0.0:0.4889	.	.	.	.	H	58	ENSP00000381947:P58H	ENSP00000381947:P58H	P	+	2	0	COL13A1	71360203	0.987000	0.35691	0.992000	0.48379	0.987000	0.75469	0.030000	0.13688	-0.253000	0.09514	-0.224000	0.12420	CCC		0.552	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		10	8	1	0	1.08611e-07	0.000978	1.32871e-07	10	8				
PRF1	5551	broad.mit.edu	37	10	72360455	72360455	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:72360455C>A	ENST00000441259.1	-	2	364	c.204G>T	c.(202-204)cgG>cgT	p.R68R	PRF1_ENST00000373209.2_Silent_p.R68R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	68	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGCCGTCGGGCCGCAGGAACC	0.677			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														uc009xqg.2		NA	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(202-204)CGG>CGT		perforin 1 precursor							42.0	42.0	42.0					10																	72360455		2203	4300	6503	SO:0001819	synonymous_variant	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360455C>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.204G>T	10.37:g.72360455C>A						PRF1_uc001jrf.3_Silent_p.R68R	p.R68R	NM_001083116	NP_001076585	P14222	PERF_HUMAN			2	365	-			68			MACPF.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.204G>T	CCDS7305.1																																																																																				0.677	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		12	9	1	0	1.08611e-07	0.000978	1.32871e-07	12	9				
ADAMTS14	140766	broad.mit.edu	37	10	72493775	72493775	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:72493775G>T	ENST00000373207.1	+	8	1343	c.1343G>T	c.(1342-1344)cGc>cTc	p.R448L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R451L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	448	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R451L(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GAGCTCAGCCGCTACCTCCCG	0.637																																							uc001jrh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1342-1344)CGC>CTC		ADAM metallopeptidase with thrombospondin type 1							60.0	53.0	55.0					10																	72493775		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72493775G>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1343G>T	10.37:g.72493775G>T	ENSP00000362303:p.Arg448Leu					ADAMTS14_uc001jrg.2_Missense_Mutation_p.R451L|ADAMTS14_uc001jri.1_5'UTR	p.R448L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			8	1343	+			448			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1343G>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846101	0.71603	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.87029	-2.2;-2.2	3.79	3.79	0.43588	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	D	0.87470	0.6185	M	0.76574	2.34	0.48135	D	0.999597	P;B	0.37914	0.611;0.253	B;B	0.39068	0.289;0.199	D	0.89811	0.3982	10	0.66056	D	0.02	.	15.7881	0.78326	0.0:0.0:1.0:0.0	.	448;451	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	L	451;448	ENSP00000362304:R451L;ENSP00000362303:R448L	ENSP00000362303:R448L	R	+	2	0	ADAMTS14	72163781	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.652000	0.98499	2.117000	0.64856	0.462000	0.41574	CGC		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		13	15	1	0	2.68362e-12	0.001368	3.85229e-12	13	15				
SYNPO2L	79933	broad.mit.edu	37	10	75407866	75407866	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:75407866G>T	ENST00000394810.2	-	4	1693	c.1544C>A	c.(1543-1545)cCc>cAc	p.P515H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P291H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	515	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CAGAGGGGTGGGCCCCTGCGA	0.677																																							uc001jut.3		NA																	0				ovary(1)	1						c.(1543-1545)CCC>CAC		synaptopodin 2-like isoform a							7.0	9.0	8.0					10																	75407866		2143	4207	6350	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407866G>T	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1544C>A	10.37:g.75407866G>T	ENSP00000378289:p.Pro515His					SYNPO2L_uc001jus.3_Missense_Mutation_p.P291H	p.P515H	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	1696	-	Prostate(51;0.0112)		515			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.1544C>A	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297624	0.40694	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.28454	1.87;1.61;2.2	4.6	3.68	0.42216	.	0.770155	0.12531	N	0.460799	T	0.19805	0.0476	L	0.29908	0.895	0.32297	N	0.565542	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.11446	-1.0587	10	0.36615	T	0.2	-4.2084	4.5208	0.11958	0.1704:0.0:0.5311:0.2985	.	515;291	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	291;515;515	ENSP00000361964:P291H;ENSP00000361963:P515H;ENSP00000378289:P515H	ENSP00000361963:P515H	P	-	2	0	SYNPO2L	75077872	0.863000	0.29885	0.998000	0.56505	0.843000	0.47879	2.149000	0.42244	2.397000	0.81536	0.561000	0.74099	CCC		0.677	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		5	4	1	0	1.23904e-05	0.000602	1.41378e-05	5	4				
LRIT2	340745	broad.mit.edu	37	10	85984321	85984321	+	Silent	SNP	G	G	A	rs375689685		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:85984321G>A	ENST00000372113.4	-	2	665	c.660C>T	c.(658-660)ctC>ctT	p.L220L	LRIT2_ENST00000538192.1_Silent_p.L220L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	220	LRRCT.		L -> F (in dbSNP:rs11200925).			integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGATGACTGGGAGGGTAATGG	0.537																																							uc001kcy.2		NA																	0				ovary(2)	2						c.(658-660)CTC>CTT		leucine rich repeat containing 22 precursor							77.0	78.0	78.0					10																	85984321		2203	4300	6503	SO:0001819	synonymous_variant	340745					integral to membrane		g.chr10:85984321G>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.660C>T	10.37:g.85984321G>A						LRIT2_uc010qmc.1_Silent_p.L220L	p.L220L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			2	668	-			220			LRRCT.		B7ZME6	Silent	SNP	ENST00000372113.4	37	c.660C>T	CCDS31234.1																																																																																				0.537	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		17	31	0	0	0	0.006122	0	17	31				
LRIT1	26103	broad.mit.edu	37	10	85992169	85992169	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:85992169G>T	ENST00000372105.3	-	4	1407	c.1386C>A	c.(1384-1386)ctC>ctA	p.L462L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	462	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGACCGCGTAGAGGACACTGA	0.577																																							uc001kcz.1		NA																	0					0						c.(1384-1386)CTC>CTA		retina specific protein PAL							84.0	62.0	70.0					10																	85992169		2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992169G>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1386C>A	10.37:g.85992169G>T							p.L462L	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1408	-			462			Fibronectin type-III.|Lumenal (Potential).		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1386C>A	CCDS7373.1																																																																																				0.577	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		4	16	1	0	0.00024832	0.009096	0.000270549	4	16				
PLCE1	51196	broad.mit.edu	37	10	96030305	96030305	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:96030305G>A	ENST00000371380.3	+	17	4687	c.4452G>A	c.(4450-4452)tcG>tcA	p.S1484S	PLCE1_ENST00000371375.1_Silent_p.S1176S|PLCE1_ENST00000260766.3_Silent_p.S1484S|PLCE1_ENST00000371385.3_Silent_p.S1176S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1484	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis). {ECO:0000269|PubMed:17086182}.		activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCATCATATCGATTGAGAACC	0.438																																							uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(4450-4452)TCG>TCA		phospholipase C, epsilon 1 isoform 1							132.0	126.0	128.0					10																	96030305		1986	4160	6146	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96030305G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4452G>A	10.37:g.96030305G>A						PLCE1_uc010qnx.1_Silent_p.S1468S|PLCE1_uc001kjm.2_Silent_p.S1176S	p.S1484S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			18	5086	+		Colorectal(252;0.0458)	1484		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis).	PI-PLC X-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.4452G>A	CCDS41552.1																																																																																				0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		11	32	0	0	0	0.008291	0	11	32				
HELLS	3070	broad.mit.edu	37	10	96306165	96306165	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:96306165G>T	ENST00000348459.5	+	2	168	c.63G>T	c.(61-63)ctG>ctT	p.L21L	HELLS_ENST00000239026.6_Silent_p.L21L|HELLS_ENST00000394044.1_Silent_p.L21L|HELLS_ENST00000371332.4_Silent_p.L21L|HELLS_ENST00000394036.1_Silent_p.L21L|HELLS_ENST00000394045.1_Silent_p.L21L	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGAACAACTGGACACTGCTG	0.463																																							uc001kjt.2		NA																	0				ovary(1)|kidney(1)	2						c.(61-63)CTG>CTT		helicase, lymphoid-specific							94.0	91.0	92.0					10																	96306165		2203	4300	6503	SO:0001819	synonymous_variant	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96306165G>T	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.63G>T	10.37:g.96306165G>T						HELLS_uc001kjs.2_Silent_p.L5L|HELLS_uc009xul.2_Silent_p.L21L|HELLS_uc009xum.2_Silent_p.L21L|HELLS_uc009xun.2_5'UTR|HELLS_uc009xuo.2_Silent_p.L21L|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_5'UTR|HELLS_uc009xur.2_RNA	p.L21L	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	2	168	+		Colorectal(252;0.0429)	21						Silent	SNP	ENST00000348459.5	37	c.63G>T	CCDS7434.1																																																																																				0.463	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		29	18	1	0	1.55811e-20	0.008361	2.73582e-20	29	18				
HELLS	3070	broad.mit.edu	37	10	96350194	96350194	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:96350194A>G	ENST00000348459.5	+	14	1618	c.1513A>G	c.(1513-1515)Act>Gct	p.T505A	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.T551A|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.T407A	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTTAAGTCCTACTGGTCGACC	0.318																																							uc001kjt.2		NA																	0				ovary(1)|kidney(1)	2						c.(1513-1515)ACT>GCT		helicase, lymphoid-specific							56.0	57.0	57.0					10																	96350194		2203	4300	6503	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96350194A>G	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1513A>G	10.37:g.96350194A>G	ENSP00000239027:p.Thr505Ala					HELLS_uc001kjs.2_Missense_Mutation_p.T489A|HELLS_uc009xul.2_Missense_Mutation_p.T407A|HELLS_uc009xum.2_Missense_Mutation_p.T375A|HELLS_uc009xun.2_Missense_Mutation_p.T381A|HELLS_uc009xuo.2_Missense_Mutation_p.T551A|HELLS_uc001kju.2_Missense_Mutation_p.T144A|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.T367A|HELLS_uc009xur.2_RNA	p.T505A	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	14	1618	+		Colorectal(252;0.0429)	505						Missense_Mutation	SNP	ENST00000348459.5	37	c.1513A>G	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.499716	0.26861	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332	D;D;D	0.89485	-2.37;-2.01;-2.52	5.62	5.62	0.85841	SNF2-related (1);	0.196730	0.53938	D	0.000059	D	0.82430	0.5035	L	0.31294	0.92	0.80722	D	1	B;B;B;B;B	0.24768	0.001;0.003;0.111;0.062;0.007	B;B;B;B;B	0.23419	0.006;0.027;0.041;0.046;0.022	T	0.77973	-0.2386	10	0.23891	T	0.37	-12.0679	13.5634	0.61804	1.0:0.0:0.0:0.0	.	489;505;375;407;505	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	A	505;407;551	ENSP00000239027:T505A;ENSP00000377609:T407A;ENSP00000360383:T551A	ENSP00000239027:T505A	T	+	1	0	HELLS	96340184	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	2.966000	0.49208	2.138000	0.66242	0.533000	0.62120	ACT		0.318	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		23	14	0	0	0	0.00278	0	23	14				
C10orf12	26148	broad.mit.edu	37	10	98743139	98743139	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:98743139G>C	ENST00000286067.2	+	1	2099	c.1992G>C	c.(1990-1992)caG>caC	p.Q664H		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	664										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCCAGAACAGGCAAAAGAAG	0.458																																							uc001kmv.2		NA																	0				skin(2)	2						c.(1990-1992)CAG>CAC		hypothetical protein LOC26148							57.0	55.0	56.0					10																	98743139		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743139G>C	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1992G>C	10.37:g.98743139G>C	ENSP00000286067:p.Gln664His						p.Q664H	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2099	+		Colorectal(252;0.172)	664					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.1992G>C	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872497	0.33069	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09445	2.98	5.67	-3.92	0.04155	.	0.756330	0.11204	N	0.588467	T	0.13798	0.0334	L	0.29908	0.895	0.09310	N	1	P	0.49559	0.925	P	0.53593	0.73	T	0.19353	-1.0308	10	0.87932	D	0	-1.6564	13.3648	0.60678	0.3935:0.0:0.6065:0.0	.	664	Q8N655	CJ012_HUMAN	H	664;498	ENSP00000286067:Q664H	ENSP00000286067:Q664H	Q	+	3	2	C10orf12	98733129	0.134000	0.22483	0.003000	0.11579	0.121000	0.20230	0.173000	0.16724	-0.741000	0.04797	-0.367000	0.07326	CAG		0.458	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		24	20	0	0	0	0.002299	0	24	20				
SFRP5	6425	broad.mit.edu	37	10	99531108	99531108	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:99531108G>A	ENST00000266066.3	-	1	601	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	161	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CGGCGATGCAGAGGTCGTTGT	0.741																																							uc001kor.3		NA																	0				lung(1)	1						c.(481-483)CTC>CTT		secreted frizzled-related protein 5 precursor							17.0	15.0	16.0					10																	99531108		2175	4250	6425	SO:0001819	synonymous_variant	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99531108G>A	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.483C>T	10.37:g.99531108G>A							p.L161L	NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	1	649	-		Colorectal(252;0.234)	161			FZ.		O14780|Q86TH7	Silent	SNP	ENST00000266066.3	37	c.483C>T	CCDS7472.1																																																																																				0.741	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015		7	6	0	0	0	0.001984	0	7	6				
CNNM1	26507	broad.mit.edu	37	10	101147614	101147614	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:101147614G>C	ENST00000356713.4	+	8	2667	c.2378G>C	c.(2377-2379)tGc>tCc	p.C793S	CNNM1_ENST00000370534.4_Missense_Mutation_p.C449S|CNNM1_ENST00000446890.1_Missense_Mutation_p.C722S|CNNM1_ENST00000370528.3_Missense_Mutation_p.C722S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	793					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTCACTGCCTGCCACATGGAC	0.617																																							uc001kpp.3		NA																	0					0						c.(2377-2379)TGC>TCC		cyclin M1							77.0	60.0	66.0					10																	101147614		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101147614G>C	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2378G>C	10.37:g.101147614G>C	ENSP00000349147:p.Cys793Ser					CNNM1_uc010qpi.1_Missense_Mutation_p.C814S|CNNM1_uc009xwf.2_Missense_Mutation_p.C793S|CNNM1_uc009xwg.2_Missense_Mutation_p.C193S	p.C793S	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	8	2667	+		Colorectal(252;0.234)	793					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.2378G>C	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	4.110	0.018579	0.07959	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.32	5.32	0.75619	.	0.248135	0.40728	N	0.001039	T	0.10078	0.0247	N	0.00504	-1.425	0.33222	D	0.554837	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.10450	0.005;0.001;0.001	T	0.13150	-1.0520	10	0.02654	T	1	-24.1417	19.3801	0.94529	0.0:0.0:1.0:0.0	.	449;793;793	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	S	793;722;722;449;246	ENSP00000349147:C793S;ENSP00000406492:C722S;ENSP00000359559:C722S;ENSP00000359565:C449S	ENSP00000349147:C793S	C	+	2	0	CNNM1	101137604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.976000	0.63785	2.634000	0.89283	0.655000	0.94253	TGC		0.617	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		7	16	0	0	0	0.00308	0	7	16				
PAX2	5076	broad.mit.edu	37	10	102566266	102566266	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:102566266C>G	ENST00000428433.1	+	7	1315	c.765C>G	c.(763-765)acC>acG	p.T255T	PAX2_ENST00000370296.2_Silent_p.T255T|PAX2_ENST00000361791.3_Silent_p.T232T|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000355243.3_Silent_p.T232T|PAX2_ENST00000556085.1_Silent_p.T231T	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	255					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GAGCTGACACCTTCACCCAGC	0.542																																							uc001krk.3		NA																	0					0						c.(763-765)ACC>ACG		paired box protein 2 isoform e							244.0	222.0	230.0					10																	102566266		2203	4300	6503	SO:0001819	synonymous_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102566266C>G		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.765C>G	10.37:g.102566266C>G						PAX2_uc001krl.3_Silent_p.T232T|PAX2_uc001krm.3_Silent_p.T255T|PAX2_uc001kro.3_Silent_p.T232T|PAX2_uc001krn.3_Silent_p.T232T|PAX2_uc010qps.1_Silent_p.T231T|PAX2_uc001krp.1_Silent_p.T228T	p.T255T	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	7	1315	+		Colorectal(252;0.234)	255					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	c.765C>G	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392930	0.25118	.	.	ENSG00000075891	ENST00000553492	.	.	.	5.06	3.17	0.36434	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50145	-0.8862	4	.	.	.	.	6.1952	0.20546	0.0:0.6715:0.1778:0.1507	.	.	.	.	R	54	.	.	P	+	2	0	PAX2	102556256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.394000	0.34509	1.085000	0.41206	0.462000	0.41574	CCT		0.542	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				42	85	0	0	0	0.009718	0	42	85				
PDCD11	22984	broad.mit.edu	37	10	105158271	105158271	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:105158271G>T	ENST00000369797.3	+	2	182	c.88G>T	c.(88-90)Gac>Tac	p.D30Y	USMG5_ENST00000337003.4_5'Flank|USMG5_ENST00000369815.1_5'Flank|USMG5_ENST00000309579.3_5'Flank|USMG5_ENST00000369811.1_5'Flank|USMG5_ENST00000369825.1_5'Flank	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	30					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTTGAACAAGACAACTTATT	0.413																																							uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(88-90)GAC>TAC		programmed cell death 11							119.0	109.0	113.0					10																	105158271		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105158271G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.88G>T	10.37:g.105158271G>T	ENSP00000358812:p.Asp30Tyr					USMG5_uc001kww.1_5'Flank|USMG5_uc001kwx.1_5'Flank	p.D30Y	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	2	175	+		Colorectal(252;0.0747)|Breast(234;0.128)	30					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.88G>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482874	0.84747	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.16196	2.36	5.3	5.3	0.74995	.	0.049463	0.85682	D	0.000000	T	0.45397	0.1340	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.50988	-0.8762	10	0.87932	D	0	-18.0274	18.5428	0.91035	0.0:0.0:1.0:0.0	.	30	Q14690	RRP5_HUMAN	Y	30	ENSP00000358812:D30Y	ENSP00000358812:D30Y	D	+	1	0	PDCD11	105148261	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.847000	0.92166	2.499000	0.84300	0.555000	0.69702	GAC		0.413	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			7	14	1	0	2.0095e-06	0.001984	2.3649e-06	7	14				
CALHM2	51063	broad.mit.edu	37	10	105209359	105209359	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:105209359G>T	ENST00000260743.5	-	3	863	c.340C>A	c.(340-342)Cct>Act	p.P114T	CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000369788.3_Missense_Mutation_p.P114T|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000393235.1_Missense_Mutation_p.P114T	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	114					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CAGGTGACAGGGGCCACAGCC	0.627																																							uc001kwz.2		NA																	0				skin(1)	1						c.(340-342)CCT>ACT		calcium homeostasis modulator 2							86.0	76.0	79.0					10																	105209359		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105209359G>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.340C>A	10.37:g.105209359G>T	ENSP00000260743:p.Pro114Thr					CALHM2_uc001kxa.2_Missense_Mutation_p.P114T|CALHM2_uc001kxc.2_Missense_Mutation_p.P114T|CALHM2_uc001kxb.2_Missense_Mutation_p.P114T|CALHM2_uc001kxd.1_Missense_Mutation_p.P114T	p.P114T	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			2	726	-			114			Helical; (Potential).		D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.340C>A	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499731	0.85176	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.69926	-0.44;-0.44;-0.44	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.84392	0.5462	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86894	0.2050	10	0.87932	D	0	-41.7419	18.9703	0.92712	0.0:0.0:1.0:0.0	.	114;114;114	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	T	114	ENSP00000358803:P114T;ENSP00000260743:P114T;ENSP00000376927:P114T	ENSP00000260743:P114T	P	-	1	0	CALHM2	105199349	1.000000	0.71417	0.978000	0.43139	0.744000	0.42396	8.799000	0.91895	2.474000	0.83562	0.561000	0.74099	CCT		0.627	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		31	26	1	0	1.80694e-10	0.009535	2.42973e-10	31	26				
CALHM1	255022	broad.mit.edu	37	10	105218463	105218463	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:105218463G>T	ENST00000329905.5	-	1	182	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	16					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						AAGGACTCCTGGTTGGACTGC	0.602																																							uc001kxe.2		NA																	0				ovary(1)	1						c.(46-48)CAG>AAG		calcium homeostasis modulator 1							48.0	51.0	50.0					10																	105218463		2203	4300	6503	SO:0001583	missense	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105218463G>T	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.46C>A	10.37:g.105218463G>T	ENSP00000329926:p.Gln16Lys						p.Q16K	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN			1	186	-			16					Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	c.46C>A	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123466	0.94429	.	.	ENSG00000185933	ENST00000329905	T	0.16196	2.36	5.56	5.56	0.83823	.	0.054748	0.85682	N	0.000000	T	0.39306	0.1073	M	0.68317	2.08	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.05852	-1.0860	10	0.15499	T	0.54	-33.2666	18.5069	0.90901	0.0:0.0:1.0:0.0	.	16	Q8IU99	CAHM1_HUMAN	K	16	ENSP00000329926:Q16K	ENSP00000329926:Q16K	Q	-	1	0	CALHM1	105208453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	2.619000	0.88677	0.491000	0.48974	CAG		0.602	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		6	13	1	0	3.59834e-05	0.001168	4.03785e-05	6	13				
COL17A1	1308	broad.mit.edu	37	10	105830296	105830296	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:105830296G>T	ENST00000353479.5	-	9	785	c.495C>A	c.(493-495)ctC>ctA	p.L165L	COL17A1_ENST00000369733.3_Silent_p.L165L|COL17A1_ENST00000393211.3_Silent_p.L165L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	165	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GACTCCCCTTGAGCAAACGCT	0.517																																							uc001kxr.2		NA																	0				ovary(4)|pancreas(1)	5						c.(493-495)CTC>CTA		alpha 1 type XVII collagen							148.0	137.0	141.0					10																	105830296		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105830296G>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.495C>A	10.37:g.105830296G>T						COL17A1_uc010qqv.1_Silent_p.L149L|COL17A1_uc009xxp.1_Silent_p.L165L	p.L165L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	664	-		Colorectal(252;0.103)|Breast(234;0.122)	165			Cytoplasmic (Potential).|Nonhelical region (NC16).|Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.495C>A	CCDS7554.1																																																																																				0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		20	51	1	0	1.56452e-12	0.007413	2.25723e-12	20	51				
SORCS3	22986	broad.mit.edu	37	10	106802854	106802854	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:106802854G>T	ENST00000369701.3	+	5	1223	c.996G>T	c.(994-996)atG>atT	p.M332I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	332					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGCAACTCATGCATGAACGCA	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(994-996)ATG>ATT		VPS10 domain receptor protein SORCS 3 precursor							249.0	225.0	233.0					10																	106802854		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106802854G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.996G>T	10.37:g.106802854G>T	ENSP00000358715:p.Met332Ile						p.M332I	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)	5	1223	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	332			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.996G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	9.125	1.010029	0.19277	.	.	ENSG00000156395	ENST00000369701	T	0.25250	1.81	5.64	5.64	0.86602	VPS10 (1);	0.228496	0.52532	D	0.000067	T	0.10981	0.0268	N	0.02916	-0.46	0.37929	D	0.931944	B	0.11235	0.004	B	0.06405	0.002	T	0.12268	-1.0554	10	0.02654	T	1	.	16.9987	0.86376	0.0:0.0:1.0:0.0	.	332	Q9UPU3	SORC3_HUMAN	I	332	ENSP00000358715:M332I	ENSP00000358715:M332I	M	+	3	0	SORCS3	106792844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.937000	0.48979	2.823000	0.97156	0.643000	0.83706	ATG		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		32	33	1	0	9.93527e-08	0.002836	1.22386e-07	32	33				
SORCS3	22986	broad.mit.edu	37	10	107022154	107022154	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:107022154C>G	ENST00000369701.3	+	26	3736	c.3509C>G	c.(3508-3510)tCa>tGa	p.S1170*		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1170					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATGATTGGGTCAGTGAGCCAA	0.488																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(3508-3510)TCA>TGA		VPS10 domain receptor protein SORCS 3 precursor							101.0	82.0	88.0					10																	107022154		2203	4300	6503	SO:0001587	stop_gained	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107022154C>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3509C>G	10.37:g.107022154C>G	ENSP00000358715:p.Ser1170*						p.S1170*	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	26	3736	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1170			Cytoplasmic (Potential).		Q5VXF9|Q9NQJ2	Nonsense_Mutation	SNP	ENST00000369701.3	37	c.3509C>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	43	10.277084	0.99373	.	.	ENSG00000156395	ENST00000369701	.	.	.	5.84	5.84	0.93424	.	0.145967	0.47455	D	0.000225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1579	0.98126	0.0:1.0:0.0:0.0	.	.	.	.	X	1170	.	.	S	+	2	0	SORCS3	107012144	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.767000	0.95098	0.555000	0.69702	TCA		0.488	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		15	13	0	0	0	0.003163	0	15	13				
SORCS1	114815	broad.mit.edu	37	10	108466362	108466362	+	Missense_Mutation	SNP	C	C	A	rs555202689		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:108466362C>A	ENST00000263054.6	-	8	1181	c.1174G>T	c.(1174-1176)Gtg>Ttg	p.V392L	SORCS1_ENST00000344440.6_Missense_Mutation_p.V392L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	392					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			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)		CGGTAGGACACGTAGTAATGT	0.463																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1174-1176)GTG>TTG		SORCS receptor 1 isoform a							162.0	135.0	144.0					10																	108466362		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108466362C>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.1174G>T	10.37:g.108466362C>A	ENSP00000263054:p.Val392Leu					SORCS1_uc001kyl.2_Missense_Mutation_p.V392L|SORCS1_uc009xxs.2_Missense_Mutation_p.V392L|SORCS1_uc001kyn.1_Missense_Mutation_p.V392L|SORCS1_uc001kyo.2_Missense_Mutation_p.V392L	p.V392L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	8	1182	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	392			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1174G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231503	0.95207	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.35789	1.29;1.29	5.64	5.64	0.86602	VPS10 (1);	0.000000	0.64402	D	0.000001	T	0.64918	0.2642	M	0.80982	2.52	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.981;0.999;0.998;0.999	T	0.65442	-0.6167	9	.	.	.	-20.7644	19.7013	0.96054	0.0:1.0:0.0:0.0	.	392;392;392;392;392	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	L	392	ENSP00000263054:V392L;ENSP00000345964:V392L	.	V	-	1	0	SORCS1	108456352	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.567000	0.67378	2.657000	0.90304	0.655000	0.94253	GTG		0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	28	1	0	0.00829132	0.008291	0.00865604	8	28				
SORCS1	114815	broad.mit.edu	37	10	108923745	108923745	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:108923745C>A	ENST00000263054.6	-	1	547	c.540G>T	c.(538-540)tgG>tgT	p.W180C	SORCS1_ENST00000344440.6_Missense_Mutation_p.W180C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	180					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			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)		TGTGGCCAGACCAGTGGACCA	0.562																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(538-540)TGG>TGT		SORCS receptor 1 isoform a							69.0	60.0	63.0					10																	108923745		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923745C>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.540G>T	10.37:g.108923745C>A	ENSP00000263054:p.Trp180Cys					SORCS1_uc001kyl.2_Missense_Mutation_p.W180C|SORCS1_uc009xxs.2_Missense_Mutation_p.W180C|SORCS1_uc001kyn.1_Missense_Mutation_p.W180C|SORCS1_uc001kyo.2_Missense_Mutation_p.W180C	p.W180C	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	548	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	180			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.540G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430531	0.62844	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.36157	1.27;1.27	5.16	4.26	0.50523	.	0.000000	0.40640	N	0.001059	T	0.46776	0.1410	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.997;0.998;0.997	P;D;D;P;D	0.66497	0.816;0.944;0.912;0.879;0.912	T	0.33675	-0.9859	9	.	.	.	-1.4082	12.4472	0.55657	0.0:0.9183:0.0:0.0817	.	180;180;180;180;180	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	C	180	ENSP00000263054:W180C;ENSP00000345964:W180C	.	W	-	3	0	SORCS1	108913735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.221000	0.65272	1.385000	0.46445	0.655000	0.94253	TGG		0.562	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	19	1	0	0.000442599	0.006214	0.000474237	8	19				
NRAP	4892	broad.mit.edu	37	10	115366008	115366008	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:115366008G>A	ENST00000359988.3	-	33	3980	c.3736C>T	c.(3736-3738)Cac>Tac	p.H1246Y	NRAP_ENST00000369360.3_Missense_Mutation_p.H1219Y|NRAP_ENST00000360478.3_Missense_Mutation_p.H1211Y|NRAP_ENST00000369358.4_Missense_Mutation_p.H1254Y	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTATACTCGTGTCTTGCATCC	0.443																																							uc001laj.2		NA																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(3736-3738)CAC>TAC		nebulin-related anchoring protein isoform S							138.0	130.0	133.0					10																	115366008		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115366008G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3736C>T	10.37:g.115366008G>A	ENSP00000353078:p.His1246Tyr					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.H1211Y|NRAP_uc001lal.3_Missense_Mutation_p.H1246Y	p.H1246Y	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	33	3900	-		Colorectal(252;0.0233)|Breast(234;0.188)	1246			Nebulin 32.			Missense_Mutation	SNP	ENST00000359988.3	37	c.3736C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861792	0.71949	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.18810	2.42;2.43;2.27;2.19	5.64	4.73	0.59995	.	0.047995	0.85682	D	0.000000	T	0.50120	0.1597	M	0.84585	2.705	0.36681	D	0.879033	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63323	-0.6663	10	0.46703	T	0.11	.	14.2888	0.66263	0.0:0.0:0.8512:0.1488	.	1246;1211;1246	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Y	1254;1219;1246;1211	ENSP00000358365:H1254Y;ENSP00000358367:H1219Y;ENSP00000353078:H1246Y;ENSP00000353666:H1211Y	ENSP00000353078:H1246Y	H	-	1	0	NRAP	115355998	1.000000	0.71417	0.966000	0.40874	0.954000	0.61252	6.754000	0.74909	1.358000	0.45922	0.655000	0.94253	CAC		0.443	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		19	16	0	0	0	0.008871	0	19	16				
ATRNL1	26033	broad.mit.edu	37	10	117185799	117185799	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:117185799A>G	ENST00000355044.3	+	21	3435	c.3309A>G	c.(3307-3309)agA>agG	p.R1103R	ATRNL1_ENST00000303745.7_Missense_Mutation_p.E7G|ATRNL1_ENST00000423111.2_Silent_p.R154R	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1103	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATCCACTTAGAGGAACATGTT	0.284																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3307-3309)AGA>AGG		attractin-like 1 precursor							163.0	169.0	167.0					10																	117185799		2203	4298	6501	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117185799A>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3309A>G	10.37:g.117185799A>G						ATRNL1_uc010qsm.1_Silent_p.R232R|ATRNL1_uc010qsn.1_RNA	p.R1103R	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	21	3695	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1103			Laminin EGF-like 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3309A>G	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.01|11.01	1.513294|1.513294	0.27123|0.27123	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000303745|ENST00000526373	.|T	.|0.51071	.|0.72	5.13|5.13	1.44|1.44	0.22558|0.22558	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37461|0.37461	0.1004|0.1004	.|.	.|.	.|.	0.21184|0.21184	N|N	0.999765|0.999765	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21109|0.21109	-1.0255|-1.0255	5|6	0.87932|.	D|.	0|.	-24.3331|-24.3331	7.705|7.705	0.28644|0.28644	0.8115:0.0:0.1885:0.0|0.8115:0.0:0.1885:0.0	.|.	.|.	.|.	.|.	G|G	7|187	.|ENSP00000434118:R187G	ENSP00000307660:E7G|.	E|R	+|+	2|1	0|2	ATRNL1|ATRNL1	117175789|117175789	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	1.627000|1.627000	0.37050|0.37050	0.003000|0.003000	0.14656|0.14656	0.379000|0.379000	0.24179|0.24179	GAG|AGG		0.284	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		20	35	0	0	0	0.002299	0	20	35				
ATRNL1	26033	broad.mit.edu	37	10	117278785	117278785	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:117278785C>A	ENST00000355044.3	+	25	3793	c.3667C>A	c.(3667-3669)Caa>Aaa	p.Q1223K	ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q16K|ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q274K	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1223					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCATTCTCACAACACAATAC	0.313																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3667-3669)CAA>AAA		attractin-like 1 precursor							122.0	116.0	118.0					10																	117278785		2202	4299	6501	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117278785C>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3667C>A	10.37:g.117278785C>A	ENSP00000347152:p.Gln1223Lys					ATRNL1_uc010qsm.1_Missense_Mutation_p.Q352K|ATRNL1_uc010qsn.1_RNA	p.Q1223K	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	25	4053	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1223			Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3667C>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569411	0.65765	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.45668	0.89;0.89;0.89	5.98	5.98	0.97165	.	0.231257	0.46758	D	0.000267	T	0.53530	0.1802	M	0.86502	2.82	0.40087	D	0.976203	B;B	0.30914	0.3;0.293	B;B	0.31442	0.13;0.039	T	0.59473	-0.7448	10	0.72032	D	0.01	-1.4159	17.3729	0.87383	0.0:1.0:0.0:0.0	.	274;1223	B4DH41;Q5VV63	.;ATRN1_HUMAN	K	1223;274;16	ENSP00000347152:Q1223K;ENSP00000409624:Q274K;ENSP00000307660:Q16K	ENSP00000307660:Q16K	Q	+	1	0	ATRNL1	117268775	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.977000	0.70492	2.847000	0.97988	0.591000	0.81541	CAA		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		13	21	1	0	9.05144e-12	0.001855	1.27997e-11	13	21				
ATRNL1	26033	broad.mit.edu	37	10	117486824	117486824	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:117486824G>A	ENST00000355044.3	+	27	3988	c.3862G>A	c.(3862-3864)Gtg>Atg	p.V1288M	ATRNL1_ENST00000303745.7_Missense_Mutation_p.V81M|ATRNL1_ENST00000423111.2_Missense_Mutation_p.V339M	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1288					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGCTCTGGAAGTGGGAGCTGA	0.458																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3862-3864)GTG>ATG		attractin-like 1 precursor							53.0	49.0	51.0					10																	117486824		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117486824G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3862G>A	10.37:g.117486824G>A	ENSP00000347152:p.Val1288Met					ATRNL1_uc010qsm.1_Missense_Mutation_p.V417M|ATRNL1_uc010qsn.1_RNA	p.V1288M	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	27	4248	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1288			Cytoplasmic (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3862G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554407	0.45487	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.45668	0.89;0.89;0.89	5.77	5.77	0.91146	.	0.187591	0.44902	D	0.000404	T	0.33962	0.0881	N	0.16903	0.455	0.46901	D	0.999242	B;B	0.31790	0.001;0.34	B;B	0.33890	0.003;0.172	T	0.11179	-1.0598	10	0.42905	T	0.14	-15.1116	19.9795	0.97321	0.0:0.0:1.0:0.0	.	339;1288	B4DH41;Q5VV63	.;ATRN1_HUMAN	M	1288;339;81	ENSP00000347152:V1288M;ENSP00000409624:V339M;ENSP00000307660:V81M	ENSP00000307660:V81M	V	+	1	0	ATRNL1	117476814	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.885000	0.75606	2.720000	0.93068	0.650000	0.86243	GTG		0.458	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		4	14	0	0	0	0.000602	0	4	14				
GFRA1	2674	broad.mit.edu	37	10	117884934	117884934	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:117884934G>A	ENST00000355422.6	-	6	1118	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	GFRA1_ENST00000369236.1_Missense_Mutation_p.R185C|GFRA1_ENST00000439649.3_Missense_Mutation_p.R185C|GFRA1_ENST00000544592.1_Missense_Mutation_p.R69C	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	190					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGCACTTGCGGCGGTTGCAG	0.602																																					Ovarian(128;329 1725 45498 46808 50759)	Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(568-570)CGC>TGC		GDNF family receptor alpha 1 isoform a							76.0	63.0	67.0					10																	117884934		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884934G>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.568C>T	10.37:g.117884934G>A	ENSP00000347591:p.Arg190Cys					GFRA1_uc001lci.2_Missense_Mutation_p.R185C|GFRA1_uc009xyr.2_Missense_Mutation_p.R185C	p.R190C	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	6	1266	-		Lung NSC(174;0.21)	190			2.		A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.568C>T	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940621	0.73557	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.64618	-0.11;-0.11	5.85	4.87	0.63330	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.79799	0.4508	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.81936	-0.0705	10	0.72032	D	0.01	-33.0593	17.705	0.88306	0.0:0.0:0.869:0.131	.	190;185	P56159;P56159-2	GFRA1_HUMAN;.	C	190;185;185;69;185	ENSP00000358239:R185C;ENSP00000442179:R69C	ENSP00000347591:R185C	R	-	1	0	GFRA1	117874924	0.997000	0.39634	0.988000	0.46212	0.804000	0.45430	2.099000	0.41767	2.771000	0.95319	0.561000	0.74099	CGC		0.602	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		4	16	0	0	0	0.009096	0	4	16				
PNLIPRP1	5407	broad.mit.edu	37	10	118354355	118354355	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:118354355C>A	ENST00000528052.1	+	5	515	c.444C>A	c.(442-444)gcC>gcA	p.A148A	PNLIPRP1_ENST00000534537.1_Silent_p.A148A|PNLIPRP1_ENST00000358834.4_Silent_p.A148A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	148					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCAGGTGGCCCAGATGCTCG	0.592																																							uc001lco.1		NA																	0				ovary(1)|breast(1)	2						c.(442-444)GCC>GCA		pancreatic lipase-related protein 1 precursor							79.0	66.0	70.0					10																	118354355		2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118354355C>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.444C>A	10.37:g.118354355C>A						PNLIPRP1_uc001lcp.2_Silent_p.A148A|PNLIPRP1_uc009xys.1_RNA	p.A148A	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	5	462	+			148					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.444C>A	CCDS7595.1																																																																																				0.592	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		12	26	1	0	3.07112e-06	0.000978	3.59348e-06	12	26				
PNLIPRP2	5408	broad.mit.edu	37	10	118385498	118385498	+	RNA	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:118385498C>A	ENST00000298771.7	+	0	271				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGGCTTCAAACTTCCAACTGG	0.478																																							uc001lcq.2		NA																	0				large_intestine(1)	1						c.(247-249)AAC>AAA		pancreatic lipase-related protein 2							82.0	87.0	85.0					10																	118385498		2129	4264	6393			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118385498C>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118385498C>A						PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	p.N83K	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	6	272	+			82					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.249C>A		.	.	.	.	.	.	.	.	.	.	C	12.49	1.955129	0.34471	.	.	ENSG00000165862	ENST00000537242	D	0.89875	-2.58	5.86	1.37	0.22104	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000007	D	0.90195	0.6935	.	.	.	0.23896	N	0.996534	D	0.67145	0.996	P	0.61722	0.893	T	0.80986	-0.1137	9	0.51188	T	0.08	.	5.2253	0.15391	0.0:0.5302:0.1505:0.3194	.	82	P54317	LIPR2_HUMAN	K	82	ENSP00000446346:N82K	ENSP00000446346:N82K	N	+	3	2	PNLIPRP2	118375488	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.689000	0.25437	0.475000	0.27415	0.650000	0.86243	AAC		0.478	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		7	23	1	0	8.12818e-05	0.001984	8.99342e-05	7	23				
PPAPDC1A	196051	broad.mit.edu	37	10	122280544	122280544	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:122280544T>A	ENST00000398250.1	+	5	734	c.382T>A	c.(382-384)Tgc>Agc	p.C128S	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C128S|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C118S|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	128					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GGAAATGCATTGCACAGGTGA	0.493																																							uc001lev.1		NA																	0				breast(1)	1						c.(382-384)TGC>AGC		phosphatidic acid phosphatase type 2 domain							87.0	87.0	87.0					10																	122280544		1899	4125	6024	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280544T>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.382T>A	10.37:g.122280544T>A	ENSP00000381302:p.Cys128Ser					PPAPDC1A_uc010qtd.1_Missense_Mutation_p.C128S|PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.C7S	p.C128S	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	734	+		Lung NSC(174;0.1)|all_lung(145;0.132)	128					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.382T>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.943161	0.92526	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92851	0.6297	10	0.72032	D	0.01	-22.7131	16.0707	0.80928	0.0:0.0:0.0:1.0	.	128;128	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	S	128;128;128;118	ENSP00000381302:C128S;ENSP00000407979:C128S;ENSP00000440493:C128S;ENSP00000358069:C118S	ENSP00000358069:C118S	C	+	1	0	PPAPDC1A	122270534	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.698000	0.84413	2.194000	0.70268	0.533000	0.62120	TGC		0.493	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		19	20	0	0	0	0.008871	0	19	20				
BTBD16	118663	broad.mit.edu	37	10	124097569	124097569	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:124097569T>G	ENST00000260723.4	+	16	1741	c.1490T>G	c.(1489-1491)gTa>gGa	p.V497G	BTBD16_ENST00000368994.2_Missense_Mutation_p.V498G	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	497										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCAATCTATGTAAGTTTTGCA	0.373																																							uc001lgc.1		NA																	0				skin(1)	1						c.(1489-1491)GTA>GGA		BTB (POZ) domain containing 16							147.0	141.0	143.0					10																	124097569		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124097569T>G	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1490T>G	10.37:g.124097569T>G	ENSP00000260723:p.Val497Gly					BTBD16_uc001lgd.1_Missense_Mutation_p.V496G	p.V497G	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN			16	1741	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	497					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.1490T>G	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750535	0.49257	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.25414	1.8;1.8	5.08	-0.0215	0.13951	.	0.646254	0.14345	N	0.325481	T	0.15176	0.0366	N	0.24115	0.695	0.43708	D	0.996178	P;P	0.35575	0.51;0.51	B;B	0.35413	0.202;0.202	T	0.08576	-1.0715	10	0.87932	D	0	-2.0331	6.6881	0.23156	0.0:0.4723:0.0:0.5277	.	498;497	Q32M84-2;Q32M84	.;BTBDG_HUMAN	G	497;498	ENSP00000260723:V497G;ENSP00000357990:V498G	ENSP00000260723:V497G	V	+	2	0	BTBD16	124087559	0.544000	0.26441	0.978000	0.43139	0.788000	0.44548	0.019000	0.13444	0.187000	0.20147	-0.182000	0.12963	GTA		0.373	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		13	16	0	0	0	0.001368	0	13	16				
C10orf120	399814	broad.mit.edu	37	10	124459225	124459225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:124459225C>A	ENST00000329446.4	-	1	113	c.82G>T	c.(82-84)Gaa>Taa	p.E28*		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	28										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ACTGGCTTTTCATTCTTCCTT	0.443																																							uc001lgn.2		NA																	0				kidney(1)	1						c.(82-84)GAA>TAA		hypothetical protein LOC399814							155.0	140.0	145.0					10																	124459225		2203	4300	6503	SO:0001587	stop_gained	399814							g.chr10:124459225C>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.82G>T	10.37:g.124459225C>A	ENSP00000331012:p.Glu28*						p.E28*	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			1	114	-		all_neural(114;0.169)|Glioma(114;0.222)	28					B2RU17	Nonsense_Mutation	SNP	ENST00000329446.4	37	c.82G>T	CCDS31302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.025087|4.025087	0.75390|0.75390	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000329446|ENST00000432000	.|.	.|.	.|.	4.11|4.11	0.989|0.989	0.19802|0.19802	.|.	0.765509|.	0.11183|.	N|.	0.590720|.	.|T	.|0.29976	.|0.0750	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33214	.|-0.9877	.|3	0.02654|.	T|.	1|.	-5.3889|-5.3889	3.7165|3.7165	0.08439|0.08439	0.0:0.5609:0.2078:0.2313|0.0:0.5609:0.2078:0.2313	.|.	.|.	.|.	.|.	X|I	28|20	.|.	ENSP00000331012:E28X|.	E|M	-|-	1|3	0|0	C10orf120|C10orf120	124449215|124449215	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.355000|0.355000	0.29361|0.29361	-0.379000|-0.379000	0.07437|0.07437	0.495000|0.495000	0.27882|0.27882	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.443	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		17	20	1	0	4.7546e-09	0.004007	6.0996e-09	17	20				
VENTX	27287	broad.mit.edu	37	10	135053621	135053621	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:135053621G>T	ENST00000325980.9	+	3	1099	c.588G>T	c.(586-588)atG>atT	p.M196I		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	196					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		AGGCTCTGATGCTGCCCCCTG	0.672																																							uc010quy.1		NA																	0					0						c.(586-588)ATG>ATT		VENT homeobox							22.0	25.0	24.0					10																	135053621		2202	4298	6500	SO:0001583	missense	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053621G>T	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.588G>T	10.37:g.135053621G>T	ENSP00000357556:p.Met196Ile						p.M196I	NM_014468	NP_055283	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	3	599	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	196					Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	c.588G>T	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	G	4.862	0.160297	0.09287	.	.	ENSG00000151650	ENST00000325980	D	0.90444	-2.67	2.3	0.323	0.15893	.	2.265820	0.02667	U	0.108138	T	0.80934	0.4719	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.15052	0.012	T	0.67102	-0.5755	10	0.20519	T	0.43	.	4.1154	0.10079	0.3976:0.0:0.6024:0.0	.	196	O95231	VENTX_HUMAN	I	196	ENSP00000357556:M196I	ENSP00000357556:M196I	M	+	3	0	VENTX	134903611	0.000000	0.05858	0.088000	0.20740	0.276000	0.26787	-1.073000	0.03430	0.077000	0.16863	0.442000	0.29010	ATG		0.672	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		10	3	1	0	0.000442599	0.006214	0.000474237	10	3				
MUC5B	727897	broad.mit.edu	37	11	1256679	1256679	+	Intron	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:1256679T>A	ENST00000529681.1	+	23	2938				MUC5B_ENST00000447027.1_Intron	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCCGACCCTGCAGCCAACG	0.657																																							uc009ycr.1		NA																	0					0						c.(4891-4893)CCT>CCA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							15.0	17.0	17.0					11																	1256679		1999	4127	6126	SO:0001627	intron_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1256679T>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2880+36T>A	11.37:g.1256679T>A						MUC5B_uc009yct.1_Intron|MUC5B_uc001ltb.2_Intron|MUC5B_uc001lta.2_Intron	p.P1631P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	39	5019	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.4893T>A	CCDS44515.2																																																																																				0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	0	0	0	0	0.001168	0	6	0				
RRM1	6240	broad.mit.edu	37	11	4156359	4156359	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:4156359G>T	ENST00000300738.5	+	18	2253	c.2049G>T	c.(2047-2049)gtG>gtT	p.V683V	RRM1_ENST00000537197.1_Silent_p.V345V|RRM1_ENST00000423050.2_Silent_p.V586V|RRM1_ENST00000534285.1_Silent_p.V461V|RRM1-AS1_ENST00000529323.1_RNA	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	683					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATAAAACTGTGTGGGAAATCT	0.393																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	uc001lyw.3		NA																	0				skin(1)	1						c.(2047-2049)GTG>GTT		ribonucleoside-diphosphate reductase M1 chain	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						90.0	91.0	91.0					11																	4156359		2201	4298	6499	SO:0001819	synonymous_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4156359G>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.2049G>T	11.37:g.4156359G>T						RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Silent_p.V643V|RRM1_uc010qyc.1_Silent_p.V586V|RRM1_uc010qyd.1_Silent_p.V345V	p.V683V	NM_001033	NP_001024	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	18	2368	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	683					Q9UNN2	Silent	SNP	ENST00000300738.5	37	c.2049G>T	CCDS7750.1																																																																																				0.393	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		20	29	1	0	5.26018e-13	0.001882	7.69835e-13	20	29				
OR51E2	81285	broad.mit.edu	37	11	4703108	4703108	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:4703108G>T	ENST00000396950.3	-	2	1073	c.834C>A	c.(832-834)atC>atA	p.I278I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	278					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAGCAGGTAGATGTCACCCA	0.502																																							uc001lzk.2		NA																	0				lung(3)|ovary(2)	5						c.(832-834)ATC>ATA		olfactory receptor, family 51, subfamily E,							185.0	136.0	152.0					11																	4703108		2201	4298	6499	SO:0001819	synonymous_variant	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703108G>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.834C>A	11.37:g.4703108G>T							p.I278I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	1078	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	278			Helical; Name=7; (Potential).		B2RA63|Q6IF94	Silent	SNP	ENST00000396950.3	37	c.834C>A	CCDS7751.1																																																																																				0.502	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		21	40	1	0	5.26018e-13	0.001882	7.69835e-13	21	40				
OR51G1	79324	broad.mit.edu	37	11	4944805	4944805	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:4944805G>T	ENST00000321961.2	-	1	832	c.765C>A	c.(763-765)atC>atA	p.I255I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATCATGGGGATGTAGAAGA	0.532																																							uc010qyr.1		NA																	0				ovary(1)|skin(1)	2						c.(763-765)ATC>ATA		olfactory receptor, family 51, subfamily G,							181.0	140.0	154.0					11																	4944805		2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944805G>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.765C>A	11.37:g.4944805G>T							p.I255I	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	765	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	255			Helical; Name=6; (Potential).		B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.765C>A	CCDS31366.1																																																																																				0.532	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		25	62	1	0	7.87624e-14	0.00278	1.17689e-13	25	62				
OR52A4	390053	broad.mit.edu	37	11	5142772	5142772	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:5142772G>T	ENST00000498233.1	-	0	626							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCACAAAAGGCATGAACAAG	0.418																																							uc001lzz.1		NA																	0				ovary(2)	2						c.(37-39)CCT>ACT		olfactory receptor, family 52, subfamily A,							113.0	112.0	112.0					11																	5142772		2201	4298	6499			390053							g.chr11:5142772G>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142772G>T						OR52A4_uc001maa.2_RNA	p.P13T	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	37	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Missense_Mutation	SNP	ENST00000498233.1	37	c.37C>A		.	.	.	.	.	.	.	.	.	.	G	8.380	0.837323	0.16891	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	T	0.73560	0.3602	.	.	.	0.23555	N	0.997429	D	0.89917	1.0	D	0.97110	1.0	T	0.81111	-0.1081	6	0.66056	D	0.02	.	11.9307	0.52845	0.0:0.0:1.0:0.0	.	13	A6NMU1	O52A4_HUMAN	T	13	.	ENSP00000369727:P13T	P	-	1	0	OR52A4	5099348	0.785000	0.28726	0.931000	0.37212	0.354000	0.29330	4.117000	0.57877	2.256000	0.74724	0.650000	0.86243	CCT		0.418	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		37	55	1	0	5.43694e-19	0.005524	9.28321e-19	37	55				
OR51Q1	390061	broad.mit.edu	37	11	5444288	5444288	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:5444288C>T	ENST00000300778.4	+	1	948	c.858C>T	c.(856-858)ccC>ccT	p.P286P	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGCACCCCCGGTGATGA	0.448																																							uc010qzd.1		NA																	0				ovary(1)	1						c.(856-858)CCC>CCT		olfactory receptor, family 51, subfamily Q,							81.0	76.0	77.0					11																	5444288		2201	4297	6498	SO:0001819	synonymous_variant	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444288C>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.858C>T	11.37:g.5444288C>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.P286P	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	858	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	286			Helical; Name=7; (Potential).		B2RNN1	Silent	SNP	ENST00000300778.4	37	c.858C>T	CCDS31381.1																																																																																				0.448	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		23	52	0	0	0	0.00278	0	23	52				
DNHD1	144132	broad.mit.edu	37	11	6541202	6541202	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:6541202G>A	ENST00000527990.2	+	7	1655	c.1655G>A	c.(1654-1656)aGg>aAg	p.R552K	DNHD1_ENST00000254579.6_Missense_Mutation_p.R552K|DNHD1_ENST00000354685.3_Missense_Mutation_p.R552K			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	552					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAGGCCCCAAGGCAGAAACCC	0.498																																							uc001mdw.3		NA																	0				ovary(2)	2						c.(1654-1656)AGG>AAG		dynein heavy chain domain 1 isoform 1							158.0	150.0	153.0					11																	6541202		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6541202G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1655G>A	11.37:g.6541202G>A	ENSP00000436180:p.Arg552Lys					DNHD1_uc001mdp.2_Missense_Mutation_p.R552K|DNHD1_uc001mdq.2_Missense_Mutation_p.R241K	p.R552K	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	9	2219	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	552					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.1655G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634198	0.87660	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.27557	1.66;2.61;1.66	5.7	5.7	0.88788	.	0.096493	0.46758	D	0.000269	T	0.37919	0.1021	L	0.29908	0.895	0.31382	N	0.67884	D;P	0.58620	0.983;0.885	P;B	0.57911	0.829;0.406	T	0.23547	-1.0185	10	0.30078	T	0.28	.	15.3389	0.74282	0.0:0.0:1.0:0.0	.	552;552	Q96M86;Q96M86-4	DNHD1_HUMAN;.	K	552	ENSP00000254579:R552K;ENSP00000346716:R552K;ENSP00000436180:R552K	ENSP00000254579:R552K	R	+	2	0	DNHD1	6497778	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.206000	0.51098	2.695000	0.91970	0.561000	0.74099	AGG		0.498	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		37	88	0	0	0	0.006999	0	37	88				
DCHS1	8642	broad.mit.edu	37	11	6654134	6654134	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:6654134C>G	ENST00000299441.3	-	6	3020	c.2609G>C	c.(2608-2610)gGa>gCa	p.G870A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	870	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGCACTCCACTGCCTGC	0.577																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(2608-2610)GGA>GCA		dachsous 1 precursor							109.0	96.0	100.0					11																	6654134		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6654134C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2609G>C	11.37:g.6654134C>G	ENSP00000299441:p.Gly870Ala						p.G870A	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3019	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	870			Cadherin 8.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2609G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799478	0.70567	.	.	ENSG00000166341	ENST00000299441	T	0.57107	0.42	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000220	T	0.77471	0.4135	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80701	-0.1265	10	0.46703	T	0.11	.	17.1878	0.86871	0.0:1.0:0.0:0.0	.	870	Q96JQ0	PCD16_HUMAN	A	870	ENSP00000299441:G870A	ENSP00000299441:G870A	G	-	2	0	DCHS1	6610710	1.000000	0.71417	0.993000	0.49108	0.740000	0.42216	7.183000	0.77697	2.607000	0.88179	0.462000	0.41574	GGA		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	24	0	0	0	0.004482	0	8	24				
DCHS1	8642	broad.mit.edu	37	11	6654222	6654222	+	Missense_Mutation	SNP	C	C	T	rs146159630		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:6654222C>T	ENST00000299441.3	-	6	2932	c.2521G>A	c.(2521-2523)Gcg>Acg	p.A841T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	841	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGATACCGCATCTAGGGAG	0.587																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(2521-2523)GCG>ACG		dachsous 1 precursor		C	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	68.0	67.0	67.0		2521	2.7	0.9	11	dbSNP_134	67	0,8592		0,0,4296	no	missense	DCHS1	NM_003737.2	58	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	841/3299	6654222	1,12993	2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6654222C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2521G>A	11.37:g.6654222C>T	ENSP00000299441:p.Ala841Thr						p.A841T	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	2931	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	841			Cadherin 8.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2521G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737701	0.03111	2.27E-4	0.0	ENSG00000166341	ENST00000299441	T	0.47869	0.83	4.71	2.73	0.32206	Cadherin (4);Cadherin-like (1);	0.449783	0.18781	N	0.131331	T	0.33147	0.0853	L	0.28740	0.885	0.22240	N	0.999264	B	0.18310	0.027	B	0.24701	0.055	T	0.20438	-1.0275	10	0.26408	T	0.33	.	8.262	0.31790	0.555:0.3221:0.1229:0.0	.	841	Q96JQ0	PCD16_HUMAN	T	841	ENSP00000299441:A841T	ENSP00000299441:A841T	A	-	1	0	DCHS1	6610798	0.923000	0.31300	0.915000	0.36163	0.050000	0.14768	0.574000	0.23714	0.607000	0.29982	-0.521000	0.04368	GCG		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		26	36	0	0	0	0.00333	0	26	36				
OR10A5	144124	broad.mit.edu	37	11	6867387	6867387	+	Silent	SNP	T	T	A	rs142555747		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:6867387T>A	ENST00000299454.4	+	1	505	c.474T>A	c.(472-474)acT>acA	p.T158T	OR10A5_ENST00000379831.2_Silent_p.T162T			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	158					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.T158T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGTAGCTACTGTGCAGACCA	0.547																																					Pancreas(44;21 1072 25662 28041 45559)	Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	1	Substitution - coding silent(1)	p.T158T(1)	skin(1)	skin(2)|ovary(1)	3						c.(472-474)ACT>ACA		olfactory receptor, family 10, subfamily A,							124.0	119.0	120.0					11																	6867387		2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867387T>A	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.474T>A	11.37:g.6867387T>A							p.T158T	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	474	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	158			Helical; Name=4; (Potential).		O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.474T>A	CCDS7773.1																																																																																				0.547	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		39	64	0	0	0	0.00874	0	39	64				
MICAL2	9645	broad.mit.edu	37	11	12278459	12278459	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:12278459G>T	ENST00000256194.4	+	24	3371	c.3083G>T	c.(3082-3084)cGc>cTc	p.R1028L	MICAL2_ENST00000379612.3_Missense_Mutation_p.R802L|MICAL2_ENST00000537344.1_Missense_Mutation_p.R838L|MICAL2_ENST00000527546.1_Missense_Mutation_p.R838L|MICAL2_ENST00000342902.5_Missense_Mutation_p.R1007L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1028	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAGTGTTTCCGCTGCAGCATC	0.612																																							uc001mjz.2		NA																	0				upper_aerodigestive_tract(2)	2						c.(3082-3084)CGC>CTC		microtubule associated monoxygenase, calponin							110.0	89.0	96.0					11																	12278459		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12278459G>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3083G>T	11.37:g.12278459G>T	ENSP00000256194:p.Arg1028Leu					MICAL2_uc010rch.1_Missense_Mutation_p.R838L|MICAL2_uc001mka.2_Missense_Mutation_p.R1028L|MICAL2_uc010rci.1_Missense_Mutation_p.R1007L|MICAL2_uc001mkb.2_Missense_Mutation_p.R802L|MICAL2_uc001mkc.2_Missense_Mutation_p.R781L|MICAL2_uc001mkd.2_Missense_Mutation_p.R610L|MICAL2_uc010rcj.1_Missense_Mutation_p.R240L|MICAL2_uc001mkf.2_RNA	p.R1028L	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	24	3371	+			1028			LIM zinc-binding.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.3083G>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145759	0.77888	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.17	4.25	0.50352	Zinc finger, LIM-type (5);	0.145385	0.40064	N	0.001192	D	0.87928	0.6301	M	0.69463	2.115	0.27035	N	0.964151	D;B;B;B;B;B	0.55172	0.97;0.327;0.378;0.107;0.378;0.437	P;B;B;B;B;B	0.53912	0.737;0.196;0.098;0.319;0.154;0.37	T	0.82246	-0.0552	10	0.87932	D	0	.	5.1893	0.15201	0.29:0.0:0.71:0.0	.	371;1007;838;781;802;1028	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	L	838;371;1028;838;1007;802	ENSP00000441689:R838L;ENSP00000256194:R1028L;ENSP00000433965:R838L;ENSP00000344894:R1007L;ENSP00000368932:R802L	ENSP00000256194:R1028L	R	+	2	0	MICAL2	12235035	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.742000	0.62103	2.407000	0.81776	0.655000	0.94253	CGC		0.612	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		30	26	1	0	2.08457e-15	0.002096	3.2371e-15	30	26				
ABCC8	6833	broad.mit.edu	37	11	17438477	17438477	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:17438477C>T	ENST00000389817.3	-	17	2323	c.2255G>A	c.(2254-2256)aGc>aAc	p.S752N	ABCC8_ENST00000302539.4_Splice_Site_p.S753N			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	752	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AAGGCTGTACCTGGGGTCCTC	0.562																																							uc001mnc.2		NA																	0				ovary(1)	1						c.(2254-2256)AGC>AAC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						107.0	81.0	89.0					11																	17438477		2200	4293	6493	SO:0001630	splice_region_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17438477C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2255+1G>A	11.37:g.17438477C>T							p.S752N	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	17	2381	-			752			ABC transporter 1.|Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2255G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959901	0.53400	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91894	-2.93;-2.67	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.464969	0.22742	N	0.056189	T	0.81307	0.4795	N	0.03608	-0.345	0.40571	D	0.981308	B	0.02656	0.0	B	0.04013	0.001	T	0.76699	-0.2863	9	.	.	.	.	15.8475	0.78903	0.0:1.0:0.0:0.0	.	752	Q09428	ABCC8_HUMAN	N	752;753;756	ENSP00000374467:S752N;ENSP00000303960:S753N	.	S	-	2	0	ABCC8	17395053	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.271000	0.58902	2.522000	0.85027	0.561000	0.74099	AGC		0.562	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	Missense_Mutation	8	18	0	0	0	0.008291	0	8	18				
ANO5	203859	broad.mit.edu	37	11	22271871	22271871	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:22271871G>T	ENST00000324559.8	+	10	1284	c.967G>T	c.(967-969)Gct>Tct	p.A323S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	323					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTTGGCTTAGCTTGTTTTAT	0.338																																							uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(967-969)GCT>TCT		anoctamin 5 isoform a							152.0	134.0	140.0					11																	22271871		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22271871G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.967G>T	11.37:g.22271871G>T	ENSP00000315371:p.Ala323Ser					ANO5_uc001mqj.2_Missense_Mutation_p.A322S	p.A323S	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			10	1284	+			323			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.967G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257218	0.22965	.	.	ENSG00000171714	ENST00000324559	T	0.64803	-0.12	5.42	0.508	0.16972	.	0.314453	0.35970	N	0.002867	T	0.54631	0.1870	M	0.79693	2.465	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.55560	-0.8122	10	0.87932	D	0	.	0.4245	0.00461	0.2329:0.306:0.1861:0.275	.	323	Q75V66	ANO5_HUMAN	S	323	ENSP00000315371:A323S	ENSP00000315371:A323S	A	+	1	0	ANO5	22228447	0.059000	0.20769	0.998000	0.56505	0.989000	0.77384	1.752000	0.38349	0.192000	0.20272	0.557000	0.71058	GCT		0.338	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		20	14	1	0	2.39187e-15	0.008871	3.70623e-15	20	14				
ANO5	203859	broad.mit.edu	37	11	22294524	22294524	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:22294524G>A	ENST00000324559.8	+	19	2541	c.2224G>A	c.(2224-2226)Gtt>Att	p.V742I	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	742					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCCTTTCTGTTGCAACTAA	0.413																																							uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2224-2226)GTT>ATT		anoctamin 5 isoform a							152.0	142.0	145.0					11																	22294524		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22294524G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2224G>A	11.37:g.22294524G>A	ENSP00000315371:p.Val742Ile					ANO5_uc001mqj.2_Missense_Mutation_p.V741I	p.V742I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			19	2541	+			742			Helical; (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.2224G>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	g	30	5.051095	0.93740	.	.	ENSG00000171714	ENST00000324559	T	0.66638	-0.22	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.75777	2.31	0.80722	D	1	P	0.39696	0.683	P	0.49561	0.615	T	0.80197	-0.1482	10	0.87932	D	0	.	19.2142	0.93768	0.0:0.0:1.0:0.0	.	742	Q75V66	ANO5_HUMAN	I	742	ENSP00000315371:V742I	ENSP00000315371:V742I	V	+	1	0	ANO5	22251100	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	7.963000	0.87922	2.609000	0.88269	0.651000	0.88453	GTT		0.413	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		24	51	0	0	0	0.005443	0	24	51				
FIBIN	387758	broad.mit.edu	37	11	27016337	27016337	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:27016337C>A	ENST00000318627.2	+	1	710	c.264C>A	c.(262-264)ggC>ggA	p.G88G		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	88						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCGTGCTGGGCCGCCAGGTGG	0.657																																							uc001mrd.2		NA																	0					0						c.(262-264)GGC>GGA		fin bud initiation factor homolog precursor							32.0	28.0	29.0					11																	27016337		2203	4299	6502	SO:0001819	synonymous_variant	387758					extracellular region|Golgi apparatus		g.chr11:27016337C>A	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.264C>A	11.37:g.27016337C>A							p.G88G	NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN			1	710	+			88						Silent	SNP	ENST00000318627.2	37	c.264C>A	CCDS7861.1																																																																																				0.657	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		14	17	1	0	4.7546e-09	0.004007	6.0996e-09	14	17				
CCDC73	493860	broad.mit.edu	37	11	32636042	32636042	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:32636042G>T	ENST00000335185.5	-	16	1865	c.1822C>A	c.(1822-1824)Cca>Aca	p.P608T	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	608										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CGAGTCCCTGGAAGCAATCTG	0.333																																							uc001mtv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1822-1824)CCA>ACA		sarcoma antigen NY-SAR-79							78.0	70.0	73.0					11																	32636042		1838	4087	5925	SO:0001583	missense	493860							g.chr11:32636042G>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1822C>A	11.37:g.32636042G>T	ENSP00000335325:p.Pro608Thr						p.P608T	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			16	1866	-	Breast(20;0.112)		608					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.1822C>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	3.222	-0.159281	0.06544	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.89	1.68	0.24146	.	1.199620	0.05895	N	0.628955	T	0.28400	0.0702	L	0.54323	1.7	0.09310	N	1	P	0.40476	0.718	B	0.35971	0.215	T	0.17077	-1.0381	9	0.11794	T	0.64	.	5.3414	0.15986	0.0851:0.2366:0.5593:0.1189	.	608	Q6ZRK6	CCD73_HUMAN	T	608	.	ENSP00000335325:P608T	P	-	1	0	CCDC73	32592618	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.631000	0.24568	0.541000	0.28827	0.591000	0.81541	CCA		0.333	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		18	17	1	0	1.99824e-07	0.00499	2.41963e-07	18	17				
HIPK3	10114	broad.mit.edu	37	11	33358645	33358645	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:33358645G>T	ENST00000303296.4	+	4	1551	c.1246G>T	c.(1246-1248)Ggt>Tgt	p.G416C	HIPK3_ENST00000456517.1_Missense_Mutation_p.G416C|HIPK3_ENST00000525975.1_Missense_Mutation_p.G416C|HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000379016.3_Missense_Mutation_p.G416C	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	416	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TCAGACTCAAGGTTTGCCAGG	0.333																																							uc001mul.1		NA																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(1246-1248)GGT>TGT		homeodomain interacting protein kinase 3 isoform							91.0	88.0	89.0					11																	33358645		2201	4296	6497	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33358645G>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1246G>T	11.37:g.33358645G>T	ENSP00000304226:p.Gly416Cys					HIPK3_uc001mum.1_Missense_Mutation_p.G416C|HIPK3_uc009yjv.1_Missense_Mutation_p.G416C|HIPK3_uc009yjw.1_RNA	p.G416C	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			4	1516	+			416			Protein kinase.		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.1246G>T	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682833	0.88542	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.06	5.06	0.68205	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	0.64402	D	0.000015	T	0.70798	0.3265	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82250	-0.0550	10	0.87932	D	0	.	18.7958	0.91993	0.0:0.0:1.0:0.0	.	416;416	Q9H422-2;Q9H422	.;HIPK3_HUMAN	C	416	ENSP00000431710:G416C;ENSP00000304226:G416C;ENSP00000368301:G416C;ENSP00000398241:G416C	ENSP00000304226:G416C	G	+	1	0	HIPK3	33315221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.513000	0.84729	0.563000	0.77884	GGT		0.333	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		9	18	1	0	1.58986e-06	0.008291	1.87881e-06	9	18				
KIAA1549L	25758	broad.mit.edu	37	11	33596419	33596419	+	Splice_Site	SNP	C	C	A	rs558721492		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:33596419C>A	ENST00000321505.4	+	9	3691	c.3511C>A	c.(3511-3513)Ccc>Acc	p.P1171T	KIAA1549L_ENST00000265654.5_Splice_Site_p.P1177T|KIAA1549L_ENST00000389726.3_Splice_Site_p.P1177T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1171						integral component of membrane (GO:0016021)											GCAAGCTGACCGTAAGGGAAT	0.433																																							uc001mup.3		NA																	0				ovary(2)	2						c.(3529-3531)CCC>ACC		hypothetical protein LOC25758							138.0	131.0	133.0					11																	33596419		1991	4169	6160	SO:0001630	splice_region_variant	25758					integral to membrane		g.chr11:33596419C>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3511+1C>A	11.37:g.33596419C>A						C11orf41_uc001mun.1_Missense_Mutation_p.P1177T	p.P1177T	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			9	3653	+			1171					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3529C>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286227	0.80803	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.6	5.6	0.85130	.	0.049055	0.85682	D	0.000000	T	0.80476	0.4630	M	0.74258	2.255	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81924	-0.0710	9	0.87932	D	0	-18.9313	19.6091	0.95594	0.0:1.0:0.0:0.0	.	1177;1177	E9PAT2;Q6ZVL6-2	.;.	T	1171;1177;1177;1010	.	ENSP00000265654:P1177T	P	+	1	0	C11orf41	33552995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.602000	0.61098	2.650000	0.89964	0.655000	0.94253	CCC		0.433	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	Missense_Mutation	42	43	1	0	2.26627e-22	0.007835	4.10582e-22	42	43				
CD44	960	broad.mit.edu	37	11	35227679	35227679	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:35227679C>A	ENST00000428726.2	+	11	1426	c.1303C>A	c.(1303-1305)Cat>Aat	p.H435N	CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.H392N|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.H436N|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.H392N|CD44_ENST00000263398.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.H435N	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	435	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TCATACCAGCCATCCAATGCA	0.473																																							uc001mvu.2		NA																	0				pancreas(1)	1						c.(1303-1305)CAT>AAT		CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)						174.0	132.0	146.0					11																	35227679		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35227679C>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1303C>A	11.37:g.35227679C>A	ENSP00000398632:p.His435Asn					CD44_uc001mvv.2_Missense_Mutation_p.H392N|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_5'UTR|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	p.H435N	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		11	1737	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	435			Extracellular (Potential).|Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.1303C>A	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.093|9.093	1.002303|1.002303	0.19121|0.19121	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110|ENST00000526553	T;T;T;T;T;T;T|.	0.21031|.	2.31;2.31;2.31;2.31;2.31;2.03;2.31|.	4.87|4.87	0.936|0.936	0.19488|0.19488	.|.	0.453907|.	0.21041|.	N|.	0.081170|.	T|T	0.42314|0.42314	0.1197|0.1197	M|M	0.68317|0.68317	2.08|2.08	0.09310|0.09310	N|N	1|1	P;B|.	0.36535|.	0.557;0.421|.	B;B|.	0.36766|.	0.232;0.116|.	T|T	0.37079|0.37079	-0.9721|-0.9721	10|5	0.33141|.	T|.	0.24|.	-24.2628|-24.2628	3.3208|3.3208	0.07049|0.07049	0.1836:0.531:0.0:0.2854|0.1836:0.531:0.0:0.2854	.|.	392;435|.	P16070-4;P16070|.	.;CD44_HUMAN|.	N|Q	392;436;392;435;435;209;147|87	ENSP00000389830:H392N;ENSP00000414567:H436N;ENSP00000391008:H392N;ENSP00000403990:H435N;ENSP00000398632:H435N;ENSP00000432405:H209N;ENSP00000436549:H147N|.	ENSP00000389830:H392N|.	H|P	+|+	1|2	0|0	CD44|CD44	35184255|35184255	0.132000|0.132000	0.22450|0.22450	0.004000|0.004000	0.12327|0.12327	0.004000|0.004000	0.04260|0.04260	1.198000|1.198000	0.32223|0.32223	0.349000|0.349000	0.23975|0.23975	-0.136000|-0.136000	0.14681|0.14681	CAT|CCA		0.473	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		17	27	1	0	1.5739e-10	0.004007	2.13247e-10	17	27				
RAG1	5896	broad.mit.edu	37	11	36594998	36594998	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:36594998A>T	ENST00000299440.5	+	2	256	c.144A>T	c.(142-144)gaA>gaT	p.E48D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	48	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTCAAAAGGAAAAGAAGGATT	0.443									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(142-144)GAA>GAT		recombination activating gene 1							52.0	58.0	56.0					11																	36594998		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36594998A>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.144A>T	11.37:g.36594998A>T	ENSP00000299440:p.Glu48Asp					RAG1_uc001mwt.2_RNA	p.E48D	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	268	+	all_lung(20;0.226)	all_hematologic(20;0.107)	48			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.144A>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	0.816	-0.750404	0.03041	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.71579	-0.58;-0.58	4.89	2.34	0.29019	.	0.869245	0.10365	N	0.683487	T	0.46560	0.1399	N	0.04297	-0.235	0.09310	N	1	B	0.23377	0.084	B	0.24974	0.057	T	0.41088	-0.9528	10	0.66056	D	0.02	.	4.797	0.13277	0.5007:0.0:0.0792:0.4201	.	48	P15918	RAG1_HUMAN	D	48	ENSP00000434610:E48D;ENSP00000299440:E48D	ENSP00000299440:E48D	E	+	3	2	RAG1	36551574	1.000000	0.71417	0.929000	0.37066	0.287000	0.27160	1.164000	0.31810	0.706000	0.31912	0.529000	0.55759	GAA		0.443	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		21	57	0	0	0	0.010504	0	21	57				
RAG1	5896	broad.mit.edu	37	11	36595593	36595593	+	Missense_Mutation	SNP	C	C	T	rs147203889		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:36595593C>T	ENST00000299440.5	+	2	851	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	247	Interaction with importin alpha-1.		R -> H (in dbSNP:rs4151029).		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAGACAAGCCCGTCAGCACAA	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(739-741)CGT>TGT		recombination activating gene 1							74.0	67.0	69.0					11																	36595593		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595593C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.739C>T	11.37:g.36595593C>T	ENSP00000299440:p.Arg247Cys					RAG1_uc001mwt.2_RNA	p.R247C	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	863	+	all_lung(20;0.226)	all_hematologic(20;0.107)	247			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.739C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	4.740	0.137640	0.09032	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.39229	1.09;1.09	5.6	3.75	0.43078	.	0.160948	0.51477	D	0.000086	T	0.40619	0.1124	M	0.69823	2.125	0.41821	D	0.990027	B	0.09022	0.002	B	0.01281	0.0	T	0.36065	-0.9763	10	0.87932	D	0	.	8.1646	0.31220	0.4206:0.5046:0.0:0.0748	.	247	P15918	RAG1_HUMAN	C	247	ENSP00000434610:R247C;ENSP00000299440:R247C	ENSP00000299440:R247C	R	+	1	0	RAG1	36552169	0.005000	0.15991	0.019000	0.16419	0.048000	0.14542	1.392000	0.34486	0.764000	0.33197	-0.133000	0.14855	CGT		0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		18	39	0	0	0	0.006122	0	18	39				
SYT13	57586	broad.mit.edu	37	11	45274156	45274156	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:45274156C>A	ENST00000020926.3	-	4	773	c.662G>T	c.(661-663)tGg>tTg	p.W221L	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	221	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCCCTCCTCCCAGGTGGTGTG	0.657											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001myq.2		NA																	0				ovary(1)	1						c.(661-663)TGG>TTG		synaptotagmin XIII							57.0	53.0	54.0					11																	45274156		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45274156C>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.662G>T	11.37:g.45274156C>A	ENSP00000020926:p.Trp221Leu		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Missense_Mutation_p.W77L	p.W221L	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			4	788	-			221			Cytoplasmic (Potential).|C2 1.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.662G>T	CCDS31470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.282601|4.282601	0.80692|0.80692	.|.	.|.	ENSG00000019505|ENSG00000019505	ENST00000528101|ENST00000020926	.|D	.|0.84223	.|-1.82	5.85|5.85	5.85|5.85	0.93711|0.93711	.|C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91345|0.91345	0.7270|0.7270	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.91364|0.91364	0.5114|0.5114	5|10	.|0.87932	.|D	.|0	.|.	20.1775|20.1775	0.98187|0.98187	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|221	.|Q7L8C5	.|SYT13_HUMAN	W|L	181|221	.|ENSP00000020926:W221L	.|ENSP00000020926:W221L	G|W	-|-	1|2	0|0	SYT13|SYT13	45230732|45230732	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	4.439000|4.439000	0.59968|0.59968	2.771000|2.771000	0.95319|0.95319	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.657	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		15	32	1	0	6.72482e-11	0.003163	9.22558e-11	15	32				
F2	2147	broad.mit.edu	37	11	46747442	46747442	+	Missense_Mutation	SNP	G	G	T	rs554080460		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:46747442G>T	ENST00000311907.5	+	7	649	c.593G>T	c.(592-594)cGc>cTc	p.R198L	F2_ENST00000530231.1_Missense_Mutation_p.R198L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	198		Cleavage; by thrombin.			acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ATGACTCCACGCTCCGAAGGC	0.617																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	Esophageal Squamous(147;1147 1808 2148 38609 51144)	uc001ndf.3		NA																	0		p.R198C(1)		ovary(3)	3						c.(592-594)CGC>CTC		coagulation factor II preproprotein	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						87.0	78.0	81.0					11																	46747442		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46747442G>T	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.593G>T	11.37:g.46747442G>T	ENSP00000308541:p.Arg198Leu					F2_uc001ndg.3_RNA	p.R198L	NM_000506	NP_000497	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	7	636	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	198				Cleavage; by thrombin.	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.593G>T	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628234	0.28978	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	D;D;D	0.93488	-2.61;-2.82;-3.23	4.36	1.34	0.21922	.	0.638690	0.16425	N	0.214981	D	0.89072	0.6611	L	0.60455	1.87	0.09310	N	0.999991	B	0.30104	0.268	B	0.25405	0.06	T	0.81553	-0.0880	10	0.87932	D	0	.	5.9074	0.19008	0.2219:0.2543:0.5239:0.0	.	198	P00734	THRB_HUMAN	L	198;198;188	ENSP00000308541:R198L;ENSP00000433907:R198L;ENSP00000387413:R188L	ENSP00000308541:R198L	R	+	2	0	F2	46704018	0.012000	0.17670	0.001000	0.08648	0.127000	0.20565	1.158000	0.31737	0.179000	0.19938	-0.282000	0.10007	CGC		0.617	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			34	39	1	0	1.36239e-07	0.003271	1.65533e-07	34	39				
LRP4	4038	broad.mit.edu	37	11	46897219	46897219	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:46897219G>A	ENST00000378623.1	-	27	3955	c.3713C>T	c.(3712-3714)gCt>gTt	p.A1238V	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1238			A -> T (in dbSNP:rs2306031).		dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTCAGGTCAGCAGCCTCAAT	0.567																																							uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3712-3714)GCT>GTT		low density lipoprotein receptor-related protein							52.0	41.0	45.0					11																	46897219		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46897219G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3713C>T	11.37:g.46897219G>A	ENSP00000367888:p.Ala1238Val						p.A1238V	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	27	3859	-			1238			Extracellular (Potential).|LDL-receptor class B 14.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3713C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893950	0.33442	.	.	ENSG00000134569	ENST00000378623	D	0.90324	-2.65	5.61	5.61	0.85477	Six-bladed beta-propeller, TolB-like (1);	0.055892	0.64402	D	0.000001	D	0.83514	0.5271	N	0.20304	0.555	0.58432	D	0.999998	B	0.29716	0.255	B	0.32149	0.141	T	0.79538	-0.1762	10	0.02654	T	1	.	19.622	0.95660	0.0:0.0:1.0:0.0	.	1238	O75096	LRP4_HUMAN	V	1238	ENSP00000367888:A1238V	ENSP00000367888:A1238V	A	-	2	0	LRP4	46853795	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.483000	0.81158	2.647000	0.89833	0.555000	0.69702	GCT		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		15	25	0	0	0	0.00245	0	15	25				
OR4S1	256148	broad.mit.edu	37	11	48328183	48328183	+	Missense_Mutation	SNP	C	C	T	rs185370970		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:48328183C>T	ENST00000319988.1	+	1	409	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R137R(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATGGATTGCCGGAAGTGTGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19422	0.0		0.001	False		,,,				2504	0.0						uc010rhu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(409-411)CGG>TGG		olfactory receptor, family 4, subfamily S,							98.0	88.0	91.0					11																	48328183		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328183C>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.409C>T	11.37:g.48328183C>T	ENSP00000321447:p.Arg137Trp						p.R137W	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	409	+			137			Cytoplasmic (Potential).		Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.409C>T	CCDS31488.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.476	0.272860	0.10349	.	.	ENSG00000176555	ENST00000319988	T	0.42900	0.96	4.89	-0.797	0.10909	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36166	0.0957	M	0.79343	2.45	0.09310	N	1	B	0.18863	0.031	B	0.18561	0.022	T	0.41052	-0.9530	9	0.38643	T	0.18	.	0.6638	0.00847	0.2682:0.3575:0.1314:0.2428	.	137	Q8NGB4	OR4S1_HUMAN	W	137	ENSP00000321447:R137W	ENSP00000321447:R137W	R	+	1	2	OR4S1	48284759	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-2.315000	0.01124	-0.347000	0.08299	0.561000	0.74099	CGG		0.577	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		37	33	0	0	0	0.005524	0	37	33				
OR4A5	81318	broad.mit.edu	37	11	51411794	51411794	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:51411794C>A	ENST00000319760.6	-	1	654	c.602G>T	c.(601-603)gGa>gTa	p.G201V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	201						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(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAGATTGCTCCACTATTGAC	0.428																																							uc001nhi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(601-603)GGA>GTA		olfactory receptor, family 4, subfamily A,							62.0	58.0	59.0					11																	51411794		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411794C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.602G>T	11.37:g.51411794C>A	ENSP00000367664:p.Gly201Val						p.G201V	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	602	-		all_lung(304;0.236)	201			Helical; Name=5; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.602G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	7.851	0.723951	0.15439	.	.	ENSG00000221840	ENST00000319760	T	0.33865	1.39	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000246	T	0.47002	0.1422	L	0.53729	1.69	0.20307	N	0.999915	P	0.50617	0.937	D	0.63793	0.918	T	0.13710	-1.0499	10	0.87932	D	0	.	7.4029	0.26975	0.0:1.0:0.0:0.0	.	201	Q8NH83	OR4A5_HUMAN	V	201	ENSP00000367664:G201V	ENSP00000367664:G201V	G	-	2	0	OR4A5	51268370	0.000000	0.05858	0.056000	0.19401	0.104000	0.19210	-0.175000	0.09825	1.394000	0.46624	0.162000	0.16502	GGA		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		11	22	1	0	3.86212e-05	0.008291	4.31346e-05	11	22				
OR4C15	81309	broad.mit.edu	37	11	55321938	55321938	+	Missense_Mutation	SNP	G	G	T	rs539675118		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55321938G>T	ENST00000314644.2	+	1	156	c.156G>T	c.(154-156)ttG>ttT	p.L52F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCTTTTCCTTGGGAAACATGC	0.358										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(154-156)TTG>TTT		olfactory receptor, family 4, subfamily C,							147.0	152.0	151.0					11																	55321938		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321938G>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.156G>T	11.37:g.55321938G>T	ENSP00000324958:p.Leu52Phe	HNSCC(20;0.049)					p.L52F	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	156	+			Error:Variant_position_missing_in_Q8NGM1_after_alignment					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.156G>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201306	0.22121	.	.	ENSG00000181939	ENST00000314644	T	0.00458	7.28	4.88	-1.66	0.08265	.	.	.	.	.	T	0.00300	0.0009	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40079	-0.9582	6	0.54805	T	0.06	.	0.9548	0.01383	0.1964:0.1269:0.2603:0.4164	.	.	.	.	F	52	ENSP00000324958:L52F	ENSP00000324958:L52F	L	+	3	2	OR4C15	55078514	0.113000	0.22115	0.001000	0.08648	0.177000	0.22998	0.522000	0.22909	-0.066000	0.12998	0.385000	0.25706	TTG		0.358	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		41	86	1	0	7.63091e-17	0.007835	1.23342e-16	41	86				
OR4C6	219432	broad.mit.edu	37	11	55432871	55432871	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55432871C>A	ENST00000314259.3	+	1	258	c.229C>A	c.(229-231)Ccc>Acc	p.P77T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGTCGTTGCCCCCAAGGTGAT	0.463																																							uc001nht.3		NA																	0				skin(2)	2						c.(229-231)CCC>ACC		olfactory receptor, family 4, subfamily C,							240.0	207.0	218.0					11																	55432871		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432871C>A	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.229C>A	11.37:g.55432871C>A	ENSP00000324769:p.Pro77Thr					OR4C6_uc010rik.1_Missense_Mutation_p.P77T	p.P77T	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	494	+			77			Helical; Name=2; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.229C>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876444	0.72180	.	.	ENSG00000181903	ENST00000314259	T	0.25579	1.79	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.201580	0.24722	N	0.036123	T	0.66197	0.2765	H	0.98594	4.275	0.35476	D	0.797768	D	0.71674	0.998	D	0.71414	0.973	D	0.84925	0.0856	10	0.87932	D	0	.	14.3601	0.66766	0.0:1.0:0.0:0.0	.	77	Q8NH72	OR4C6_HUMAN	T	77	ENSP00000324769:P77T	ENSP00000324769:P77T	P	+	1	0	OR4C6	55189447	0.989000	0.36119	0.065000	0.19835	0.007000	0.05969	3.502000	0.53332	1.698000	0.51180	0.543000	0.68304	CCC		0.463	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		32	69	1	0	3.90053e-15	0.002445	5.99822e-15	32	69				
OR4C6	219432	broad.mit.edu	37	11	55433099	55433099	+	Missense_Mutation	SNP	C	C	A	rs149652704		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55433099C>A	ENST00000314259.3	+	1	486	c.457C>A	c.(457-459)Cac>Aac	p.H153N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGGATTTATGCACGCAATGAT	0.468																																							uc001nht.3		NA																	0				skin(2)	2						c.(457-459)CAC>AAC		olfactory receptor, family 4, subfamily C,							101.0	97.0	99.0					11																	55433099		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433099C>A	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.457C>A	11.37:g.55433099C>A	ENSP00000324769:p.His153Asn					OR4C6_uc010rik.1_Missense_Mutation_p.H153N	p.H153N	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	722	+			153			Helical; Name=4; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.457C>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	9.097	1.003200	0.19121	.	.	ENSG00000181903	ENST00000314259	T	0.37058	1.22	3.83	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001316	T	0.43919	0.1269	L	0.41027	1.25	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10474	-1.0628	10	0.87932	D	0	.	5.1165	0.14836	0.2078:0.6801:0.0:0.1121	.	153	Q8NH72	OR4C6_HUMAN	N	153	ENSP00000324769:H153N	ENSP00000324769:H153N	H	+	1	0	OR4C6	55189675	0.000000	0.05858	0.009000	0.14445	0.032000	0.12392	-0.511000	0.06321	1.698000	0.51180	0.543000	0.68304	CAC		0.468	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		34	42	1	0	1.99505e-19	0.002445	3.43941e-19	34	42				
OR5D14	219436	broad.mit.edu	37	11	55563060	55563061	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55563060_55563061TG>AT	ENST00000335605.1	+	1	29_30	c.29_30TG>AT	c.(28-30)aTG>aAT	p.M10N		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AATCTGAGCATGGAGCCCACCT	0.401																																							uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(28-30)ATG>AAT		olfactory receptor, family 5, subfamily D,																																				SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563060_55563061TG>AT	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	Exception_encountered	11.37:g.55563060_55563061delinsAT	ENSP00000334456:p.Met10Asn						p.M10N	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	29_30	+		all_epithelial(135;0.196)	10			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	DNP	ENST00000335605.1	37	c.29_30TG>AT	CCDS31508.1																																																																																				0.401	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		43	47	0	0	0	0.004672	0	43	47				
OR5D14	219436	broad.mit.edu	37	11	55563196	55563196	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55563196C>T	ENST00000335605.1	+	1	165	c.165C>T	c.(163-165)ccC>ccT	p.P55P		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGATTAACCCCAAATTTCACA	0.388																																							uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(163-165)CCC>CCT		olfactory receptor, family 5, subfamily D,							226.0	209.0	215.0					11																	55563196		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563196C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.165C>T	11.37:g.55563196C>T							p.P55P	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	165	+		all_epithelial(135;0.196)	55			Cytoplasmic (Potential).		Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.165C>T	CCDS31508.1																																																																																				0.388	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		20	58	0	0	0	0.008871	0	20	58				
OR5L2	26338	broad.mit.edu	37	11	55594843	55594843	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55594843A>G	ENST00000378397.1	+	1	149	c.149A>G	c.(148-150)cAg>cGg	p.Q50R		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCACTGATTCAGGTCAGCTCT	0.488										HNSCC(27;0.073)																													uc001nhy.1		NA																	0				ovary(1)	1						c.(148-150)CAG>CGG		olfactory receptor, family 5, subfamily L,							306.0	270.0	283.0					11																	55594843		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594843A>G	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.149A>G	11.37:g.55594843A>G	ENSP00000367650:p.Gln50Arg	HNSCC(27;0.073)					p.Q50R	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	149	+		all_epithelial(135;0.208)	50			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.149A>G	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.221582	0.00283	.	.	ENSG00000205030	ENST00000378397	T	0.01076	5.37	5.31	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.459701	0.18541	N	0.138183	T	0.00384	0.0012	N	0.00408	-1.53	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.45249	-0.9274	10	0.02654	T	1	-2.0947	5.8916	0.18917	0.6685:0.0:0.3315:0.0	.	50	Q8NGL0	OR5L2_HUMAN	R	50	ENSP00000367650:Q50R	ENSP00000367650:Q50R	Q	+	2	0	OR5L2	55351419	0.000000	0.05858	0.830000	0.32933	0.026000	0.11368	-0.064000	0.11636	0.997000	0.38969	0.509000	0.49947	CAG		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		68	132	0	0	0	0.00361	0	68	132				
OR7E5P	219445	broad.mit.edu	37	11	55747343	55747343	+	IGR	SNP	G	G	T	rs149960901	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55747343G>T								OR10AG1 (11353 upstream) : OR5F1 (13813 downstream)																							AGGTGAAACCGATGTCAGGCA	0.552																																							uc010riu.1		NA																	0					0						c.(112-114)ATC>ATA		SubName: Full=HCG2036849; SubName: Full=Seven transmembrane helix receptor;																																				SO:0001628	intergenic_variant	219445							g.chr11:55747343G>T																													11.37:g.55747343G>T							p.I38I	NR_027688						4	669	-									Silent	SNP		37	c.114C>A																																																																																				0	0.552									8	18	1	0	0.00448238	0.004482	0.00472109	8	18				
OR7E5P	219445	broad.mit.edu	37	11	55747406	55747406	+	IGR	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:55747406G>T								OR10AG1 (11416 upstream) : OR5F1 (13750 downstream)																							GGGAGTCAGAGCCGATGGCCA	0.582																																							uc010riu.1		NA																	0					0						c.(49-51)GGC>GGA		SubName: Full=HCG2036849; SubName: Full=Seven transmembrane helix receptor;																																				SO:0001628	intergenic_variant	219445							g.chr11:55747406G>T																													11.37:g.55747406G>T							p.G17G	NR_027688						4	606	-									Silent	SNP		37	c.51C>A																																																																																				0	0.582									22	21	1	0	1.9806e-07	0.002299	2.40441e-07	22	21				
OR5T3	390154	broad.mit.edu	37	11	56020379	56020379	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56020379C>A	ENST00000303059.3	+	1	704	c.704C>A	c.(703-705)tCt>tAt	p.S235Y		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTGTGGGTTCTATTGAGATA	0.408																																							uc010rjd.1		NA																	0					0						c.(703-705)TCT>TAT		olfactory receptor, family 5, subfamily T,							246.0	225.0	232.0					11																	56020379		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020379C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.704C>A	11.37:g.56020379C>A	ENSP00000305403:p.Ser235Tyr						p.S235Y	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	704	+	Esophageal squamous(21;0.00448)		235			Helical; Name=5; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.704C>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758215	0.15846	.	.	ENSG00000172489	ENST00000303059	T	0.37752	1.18	4.65	-0.669	0.11388	GPCR, rhodopsin-like superfamily (1);	1.048890	0.07576	N	0.919369	T	0.48277	0.1491	L	0.52206	1.635	0.09310	N	1	P	0.36660	0.564	P	0.52710	0.707	T	0.55749	-0.8092	10	0.62326	D	0.03	.	10.1294	0.42669	0.0:0.3131:0.0:0.6869	.	235	Q8NGG3	OR5T3_HUMAN	Y	235	ENSP00000305403:S235Y	ENSP00000305403:S235Y	S	+	2	0	OR5T3	55776955	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.133000	0.03232	-0.203000	0.10251	-0.149000	0.13747	TCT		0.408	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		56	123	1	0	3.21867e-24	0.00361	5.98577e-24	56	123				
OR5T3	390154	broad.mit.edu	37	11	56020487	56020487	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56020487G>C	ENST00000303059.3	+	1	812	c.812G>C	c.(811-813)tGt>tCt	p.C271S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCTCTACATGTGGCTCTCAC	0.418																																							uc010rjd.1		NA																	0					0						c.(811-813)TGT>TCT		olfactory receptor, family 5, subfamily T,							211.0	189.0	196.0					11																	56020487		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020487G>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.812G>C	11.37:g.56020487G>C	ENSP00000305403:p.Cys271Ser						p.C271S	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	812	+	Esophageal squamous(21;0.00448)		271			Helical; Name=6; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.812G>C	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981300	0.34942	.	.	ENSG00000172489	ENST00000303059	T	0.00369	7.74	4.25	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.01800	0.0057	H	0.98980	4.39	0.34817	D	0.738297	D	0.76494	0.999	D	0.77557	0.99	T	0.09662	-1.0664	10	0.87932	D	0	.	10.5609	0.45144	0.1602:0.0:0.8398:0.0	.	271	Q8NGG3	OR5T3_HUMAN	S	271	ENSP00000305403:C271S	ENSP00000305403:C271S	C	+	2	0	OR5T3	55777063	1.000000	0.71417	0.328000	0.25416	0.052000	0.14988	4.917000	0.63369	0.545000	0.28902	0.643000	0.83706	TGT		0.418	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		68	50	0	0	0	0.00361	0	68	50				
OR5M9	390162	broad.mit.edu	37	11	56230127	56230128	+	Nonsense_Mutation	DNP	CA	CA	AT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56230127_56230128CA>AT	ENST00000279791.1	-	1	749_750	c.750_751TG>AT	c.(748-753)taTGgg>taATgg	p.250_251YG>*W		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATGGGGGTCCCATAAAACATAG	0.51																																							uc010rjj.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(748-753)TATGGG>TAATGG		olfactory receptor, family 5, subfamily M,																																				SO:0001587	stop_gained	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230127_56230128CA>AT	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.750_751delinsAT	11.37:g.56230127_56230128delinsAT	ENSP00000279791:p.Y250_G251delins*W						p.250_251YG>*W	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	750_751	-	Esophageal squamous(21;0.00448)		250_251			Helical; Name=6; (Potential).		Q6IEW5|Q96RB9	Nonsense_Mutation	DNP	ENST00000279791.1	37	c.750_751TG>AT	CCDS31531.1																																																																																				0.510	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		20	15	0	0	0	0.004672	0	20	15				
OR5M9	390162	broad.mit.edu	37	11	56230340	56230340	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56230340G>T	ENST00000279791.1	-	1	537	c.538C>A	c.(538-540)Ccc>Acc	p.P180T		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATGAGAGGGGGATCTGCACAA	0.408																																							uc010rjj.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(538-540)CCC>ACC		olfactory receptor, family 5, subfamily M,							88.0	91.0	90.0					11																	56230340		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230340G>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.538C>A	11.37:g.56230340G>T	ENSP00000279791:p.Pro180Thr						p.P180T	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	538	-	Esophageal squamous(21;0.00448)		180			Extracellular (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.538C>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790342	0.31685	.	.	ENSG00000150269	ENST00000279791	T	0.00211	8.54	4.39	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000511	T	0.00328	0.0010	M	0.67569	2.06	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.50709	-0.8796	10	0.66056	D	0.02	-16.843	0.9394	0.01352	0.1927:0.2007:0.4007:0.206	.	180	Q8NGP3	OR5M9_HUMAN	T	180	ENSP00000279791:P180T	ENSP00000279791:P180T	P	-	1	0	OR5M9	55986916	0.000000	0.05858	0.530000	0.27963	0.696000	0.40369	-0.143000	0.10296	0.948000	0.37687	0.542000	0.68232	CCC		0.408	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		20	12	1	0	1.00905e-13	0.008871	1.49675e-13	20	12				
OR9G1	390174	broad.mit.edu	37	11	56468109	56468109	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:56468109G>A	ENST00000312153.1	+	1	246	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGATCCTAGTGACCTGCATCT	0.488																																							uc010rjn.1		NA																	0					0						c.(244-246)GTG>GTA		olfactory receptor, family 9, subfamily G,							130.0	126.0	127.0					11																	56468109		2201	4294	6495	SO:0001819	synonymous_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468109G>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.246G>A	11.37:g.56468109G>A							p.V82V	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	246	+			82			Helical; Name=2; (Potential).		Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.246G>A	CCDS31536.1																																																																																				0.488	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		20	111	0	0	0	0.00333	0	20	111				
SLC43A1	8501	broad.mit.edu	37	11	57259335	57259335	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:57259335C>T	ENST00000278426.3	-	9	1227	c.872G>A	c.(871-873)aGg>aAg	p.R291K	SLC43A1_ENST00000528450.1_Splice_Site_p.R291K|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGGGACAGACCCTGGGGAGAC	0.602											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001nkk.2		NA																	0					0						c.(871-873)AGG>AAG		solute carrier family 43, member 1							31.0	33.0	32.0					11																	57259335		2201	4296	6497	SO:0001630	splice_region_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57259335C>T	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.872-1G>A	11.37:g.57259335C>T			OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1021	SLC43A1_uc001nkl.2_Missense_Mutation_p.R291K	p.R291K	NM_003627	NP_003618	O75387	LAT3_HUMAN			9	990	-			291						Missense_Mutation	SNP	ENST00000278426.3	37	c.872G>A	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	C	6.497	0.459806	0.12342	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.56776	0.44;0.44	5.65	3.12	0.35913	Major facilitator superfamily domain, general substrate transporter (1);	1.643490	0.04364	N	0.358003	T	0.19248	0.0462	N	0.00538	-1.39	0.23624	N	0.997267	B	0.02656	0.0	B	0.06405	0.002	T	0.35968	-0.9767	10	0.05525	T	0.97	.	6.8735	0.24133	0.0:0.3327:0.0:0.6673	.	291	O75387	LAT3_HUMAN	K	291	ENSP00000278426:R291K;ENSP00000435673:R291K	ENSP00000278426:R291K	R	-	2	0	SLC43A1	57015911	0.709000	0.27886	0.997000	0.53966	0.989000	0.77384	0.162000	0.16501	0.341000	0.23771	0.650000	0.86243	AGG		0.602	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Missense_Mutation	17	17	0	0	0	0.006122	0	17	17				
OR9Q2	219957	broad.mit.edu	37	11	57958752	57958752	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:57958752A>T	ENST00000311591.3	+	1	847	c.790A>T	c.(790-792)Aca>Tca	p.T264S		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	264						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(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCGAGACAACACAGGCCAGTC	0.577																																							uc010rka.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(790-792)ACA>TCA		olfactory receptor, family 9, subfamily Q,							113.0	100.0	105.0					11																	57958752		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958752A>T	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.790A>T	11.37:g.57958752A>T	ENSP00000308714:p.Thr264Ser						p.T264S	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	790	+		Breast(21;0.0589)	264			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.790A>T	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.269170	0.00259	.	.	ENSG00000186513	ENST00000311591	T	0.00018	9.08	5.09	-6.43	0.01926	GPCR, rhodopsin-like superfamily (1);	0.393758	0.18721	N	0.133002	T	0.00039	0.0001	N	0.00076	-2.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45071	-0.9286	10	0.02654	T	1	-3.3003	7.8668	0.29541	0.3921:0.0:0.3742:0.2338	.	264	Q8NGE9	OR9Q2_HUMAN	S	264	ENSP00000308714:T264S	ENSP00000308714:T264S	T	+	1	0	OR9Q2	57715328	0.000000	0.05858	0.004000	0.12327	0.052000	0.14988	-0.752000	0.04797	-0.823000	0.04301	-2.430000	0.00215	ACA		0.577	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		32	60	0	0	0	0.002445	0	32	60				
OR1S1	219959	broad.mit.edu	37	11	57983153	57983153	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:57983153G>C	ENST00000309433.6	+	1	937	c.937G>C	c.(937-939)Gcc>Ccc	p.A313P		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TATGAAAGGTGCCCTGAGAAA	0.428																																							uc010rkc.1		NA																	0				breast(1)	1						c.(937-939)GCC>CCC		olfactory receptor, family 1, subfamily S,							141.0	140.0	140.0					11																	57983153		2201	4293	6494	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57983153G>C	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.937G>C	11.37:g.57983153G>C	ENSP00000311688:p.Ala313Pro						p.A313P	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	937	+		Breast(21;0.0589)	313			Cytoplasmic (Potential).		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.937G>C	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201145	0.38905	.	.	ENSG00000172774	ENST00000309433	T	0.47528	0.84	3.23	3.23	0.37069	.	0.000000	0.48767	D	0.000168	T	0.73869	0.3642	H	0.97131	3.945	0.09310	N	1	D	0.65815	0.995	P	0.61397	0.888	T	0.69079	-0.5240	10	0.87932	D	0	.	10.7138	0.46000	0.0:0.0:0.8092:0.1908	.	313	Q8NH92	OR1S1_HUMAN	P	313	ENSP00000311688:A313P	ENSP00000311688:A313P	A	+	1	0	OR1S1	57739729	0.004000	0.15560	0.553000	0.28255	0.957000	0.61999	0.899000	0.28417	1.647000	0.50633	0.479000	0.44913	GCC		0.428	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		65	66	0	0	0	0.00361	0	65	66				
OR10W1	81341	broad.mit.edu	37	11	58034886	58034886	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:58034886G>C	ENST00000395079.2	-	1	846	c.445C>G	c.(445-447)Caa>Gaa	p.Q149E		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCACCAGTTGTAAGGACAGG	0.507																																							uc001nmq.1		NA																	0				ovary(1)	1						c.(445-447)CAA>GAA		olfactory receptor, family 10, subfamily W,							109.0	72.0	84.0					11																	58034886		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034886G>C	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.445C>G	11.37:g.58034886G>C	ENSP00000378516:p.Gln149Glu						p.Q149E	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	847	-		Breast(21;0.0589)	149			Helical; Name=4; (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.445C>G	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209486	0.39003	.	.	ENSG00000172772	ENST00000395079	T	0.36878	1.23	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.31327	0.0793	N	0.12182	0.205	0.09310	N	1	D	0.57257	0.979	P	0.54759	0.76	T	0.13045	-1.0524	10	0.30854	T	0.27	.	11.2379	0.48951	0.0:0.0:0.7724:0.2276	.	149	Q8NGF6	O10W1_HUMAN	E	149	ENSP00000378516:Q149E	ENSP00000378516:Q149E	Q	-	1	0	OR10W1	57791462	0.000000	0.05858	0.422000	0.26621	0.764000	0.43329	0.057000	0.14279	2.689000	0.91719	0.655000	0.94253	CAA		0.507	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		11	20	0	0	0	0.008291	0	11	20				
ZFP91	80829	broad.mit.edu	37	11	58384721	58384721	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:58384721A>G	ENST00000316059.6	+	11	1426	c.1255A>G	c.(1255-1257)Atg>Gtg	p.M419V	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.M419V	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	419					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TAATTGGCACATGAAGAAACA	0.403																																							uc001nmx.3		NA																	0				ovary(1)	1						c.(1255-1257)ATG>GTG		zinc finger protein 91							101.0	95.0	97.0					11																	58384721		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384721A>G	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1255A>G	11.37:g.58384721A>G	ENSP00000339030:p.Met419Val					ZFP91_uc001nmy.3_Missense_Mutation_p.M418V|ZFP91-CNTF_uc010rkm.1_RNA	p.M419V	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			11	1423	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	419			C2H2-type 4.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1255A>G	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230906	0.58777	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.60424	0.19	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	N	0.25031	0.7	0.58432	D	0.999996	B;B	0.29136	0.234;0.145	B;B	0.27076	0.067;0.076	T	0.46275	-0.9203	10	0.62326	D	0.03	-17.4151	15.7887	0.78332	1.0:0.0:0.0:0.0	.	419;419	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	V	419	ENSP00000339030:M419V	ENSP00000374569:M419V	M	+	1	0	ZFP91	58141297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	ATG		0.403	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		24	31	0	0	0	0.00333	0	24	31				
OR4D9	390199	broad.mit.edu	37	11	59283051	59283051	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:59283051G>C	ENST00000329328.3	+	1	666	c.666G>C	c.(664-666)ttG>ttC	p.L222F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CGGTCATCTTGATGATGCTGA	0.498																																							uc010rkv.1		NA																	0					0						c.(664-666)TTG>TTC		olfactory receptor, family 4, subfamily D,							225.0	197.0	206.0					11																	59283051		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283051G>C	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.666G>C	11.37:g.59283051G>C	ENSP00000328563:p.Leu222Phe						p.L222F	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	666	+			222			Cytoplasmic (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.666G>C	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	8.508	0.865829	0.17250	.	.	ENSG00000172742	ENST00000329328	T	0.00123	8.7	4.45	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.258954	0.20211	U	0.096890	T	0.00328	0.0010	L	0.55990	1.75	0.09310	N	1	D	0.69078	0.997	D	0.70016	0.967	T	0.49698	-0.8912	10	0.66056	D	0.02	-1.9326	8.7157	0.34410	0.0:0.3119:0.5274:0.1607	.	222	Q8NGE8	OR4D9_HUMAN	F	222	ENSP00000328563:L222F	ENSP00000328563:L222F	L	+	3	2	OR4D9	59039627	0.001000	0.12720	0.029000	0.17559	0.006000	0.05464	-0.203000	0.09438	0.361000	0.24292	0.563000	0.77884	TTG		0.498	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		82	68	0	0	0	0.00361	0	82	68				
OR10V1	390201	broad.mit.edu	37	11	59480878	59480878	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:59480878T>A	ENST00000307552.2	-	1	459	c.441A>T	c.(439-441)gtA>gtT	p.V147V	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CCAAGGAGCCTACCAGCAGCT	0.502																																							uc001nof.1		NA																	0					0						c.(439-441)GTA>GTT		olfactory receptor, family 10, subfamily V,							69.0	60.0	63.0					11																	59480878		2201	4295	6496	SO:0001819	synonymous_variant	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480878T>A	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.441A>T	11.37:g.59480878T>A							p.V147V	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	441	-			147			Helical; Name=4; (Potential).		Q6IFD9|Q96R50	Silent	SNP	ENST00000307552.2	37	c.441A>T	CCDS31565.1																																																																																				0.502	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		20	20	0	0	0	0.008871	0	20	20				
GIF	2694	broad.mit.edu	37	11	59611418	59611418	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:59611418C>A	ENST00000257248.2	-	2	237	c.190G>T	c.(190-192)Gcc>Tcc	p.A64S	GIF_ENST00000541311.1_Missense_Mutation_p.A39S	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	64					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TAGGCTCCGGCCAGATTCATG	0.537																																					NSCLC(53;1139 1245 16872 38474 42853)	NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.2		NA																	0				ovary(1)|liver(1)	2						c.(190-192)GCC>TCC		gastric intrinsic factor (vitamin B synthesis)							106.0	92.0	97.0					11																	59611418		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59611418C>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.190G>T	11.37:g.59611418C>A	ENSP00000257248:p.Ala64Ser					GIF_uc010rkz.1_Missense_Mutation_p.A64S	p.A64S	NM_005142	NP_005133	P27352	IF_HUMAN			2	238	-			64					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.190G>T	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632785	0.67015	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.31510	1.49;1.49	5.5	5.5	0.81552	.	0.180768	0.38217	N	0.001768	T	0.48714	0.1515	L	0.59436	1.845	0.37045	D	0.897303	B;B	0.31274	0.317;0.235	P;P	0.51355	0.667;0.639	T	0.51545	-0.8692	10	0.33940	T	0.23	-13.347	14.8785	0.70513	0.0:1.0:0.0:0.0	.	64;64	B4DVY6;P27352	.;IF_HUMAN	S	64;39	ENSP00000257248:A64S;ENSP00000440427:A39S	ENSP00000257248:A64S	A	-	1	0	GIF	59367994	0.999000	0.42202	0.983000	0.44433	0.356000	0.29392	4.099000	0.57755	2.585000	0.87301	0.655000	0.94253	GCC		0.537	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		17	30	1	0	5.01169e-05	0.00499	5.58424e-05	17	30				
MS4A3	932	broad.mit.edu	37	11	59834453	59834453	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:59834453C>T	ENST00000278865.3	+	5	454	c.381C>T	c.(379-381)gcC>gcT	p.A127A	MS4A3_ENST00000358152.2_Silent_p.A81A|MS4A3_ENST00000395032.2_Silent_p.A4A|MS4A3_ENST00000534744.1_Silent_p.A81A	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	127						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGAACATTGCCAGTGCTACAA	0.363																																							uc001nom.2		NA																	0				ovary(2)|skin(1)	3						c.(379-381)GCC>GCT		membrane-spanning 4-domains, subfamily A, member							78.0	70.0	73.0					11																	59834453		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59834453C>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.381C>T	11.37:g.59834453C>T						MS4A3_uc001non.2_Silent_p.A81A|MS4A3_uc001noo.2_Silent_p.A4A	p.A127A	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			5	509	+		all_epithelial(135;0.245)	127			Helical; (Potential).		A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.381C>T	CCDS31567.1																																																																																				0.363	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			7	9	0	0	0	0.001984	0	7	9				
MS4A7	58475	broad.mit.edu	37	11	60157001	60157001	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:60157001C>A	ENST00000300184.3	+	5	674	c.478C>A	c.(478-480)Cct>Act	p.P160T	MS4A7_ENST00000358246.1_Missense_Mutation_p.P115T|MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.P115T	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	160						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ATCCTCATTGCCTTATTCGGA	0.438																																							uc001npe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(478-480)CCT>ACT		membrane-spanning 4-domains, subfamily A, member							142.0	129.0	133.0					11																	60157001		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60157001C>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.478C>A	11.37:g.60157001C>A	ENSP00000300184:p.Pro160Thr					MS4A7_uc001npf.2_Missense_Mutation_p.P160T|MS4A7_uc001npg.2_Missense_Mutation_p.P115T|MS4A7_uc001nph.2_Missense_Mutation_p.P115T|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.P115T	p.P160T	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			5	623	+			160			Extracellular (Potential).		A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.478C>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512186	0.44660	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027	T;T;T;T;T	0.02236	4.38;4.38;4.38;4.38;4.38	3.69	1.78	0.24846	.	1.126950	0.06811	N	0.790309	T	0.05823	0.0152	L	0.36672	1.1	0.29320	N	0.86742	D;D;D	0.76494	0.989;0.975;0.999	P;P;D	0.68765	0.867;0.668;0.96	T	0.42849	-0.9427	10	0.28530	T	0.3	-15.7526	5.2737	0.15638	0.0:0.7282:0.0:0.2718	.	115;115;160	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	T	160;115;115;115;96	ENSP00000300184:P160T;ENSP00000350983:P115T;ENSP00000434637:P115T;ENSP00000433861:P115T;ENSP00000434819:P96T	ENSP00000300184:P160T	P	+	1	0	MS4A7	59913577	0.966000	0.33281	0.399000	0.26333	0.325000	0.28411	0.784000	0.26816	0.526000	0.28541	0.563000	0.77884	CCT		0.438	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			12	43	1	0	2.61681e-11	0.00245	3.65328e-11	12	43				
CD6	923	broad.mit.edu	37	11	60777114	60777114	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:60777114G>A	ENST00000313421.7	+	5	1038	c.852G>A	c.(850-852)ggG>ggA	p.G284G	CD6_ENST00000344028.5_Silent_p.G284G|CD6_ENST00000452451.2_Silent_p.G284G|CD6_ENST00000346437.4_Silent_p.G284G|CD6_ENST00000545105.1_Intron|CD6_ENST00000352009.5_Silent_p.G284G	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	284	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ACTTCCGAGGGGTCTGGAACA	0.652																																					Pancreas(169;904 2017 4767 38890 42505)	Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2		NA																	0				pancreas(1)	1						c.(850-852)GGG>GGA		CD6 molecule precursor							79.0	65.0	70.0					11																	60777114		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60777114G>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.852G>A	11.37:g.60777114G>A						CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Silent_p.G284G|CD6_uc001nqr.2_Silent_p.G284G|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.G284G	p.G284G	NM_006725	NP_006716	P30203	CD6_HUMAN			5	1075	+			284			SRCR 3.|Extracellular (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.852G>A	CCDS7999.1																																																																																				0.652	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		9	31	0	0	0	0.006214	0	9	31				
RAB3IL1	5866	broad.mit.edu	37	11	61675767	61675767	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:61675767G>C	ENST00000394836.2	-	2	180	c.23C>G	c.(22-24)cCa>cGa	p.P8R	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.P55R	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	8					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						GCCCTGGTCTGGCTGGGGTGG	0.682																																							uc001nso.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(22-24)CCA>CGA		RAB3A interacting protein (rabin3)-like 1							6.0	6.0	6.0					11																	61675767		2090	4162	6252	SO:0001583	missense	5866						protein binding	g.chr11:61675767G>C	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.23C>G	11.37:g.61675767G>C	ENSP00000378313:p.Pro8Arg					RAB3IL1_uc001nsp.2_Missense_Mutation_p.P55R	p.P8R	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN			2	181	-			8					Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.23C>G	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562175	0.45590	.	.	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000531922	T;T;T	0.50813	1.4;1.34;0.73	4.72	2.78	0.32641	.	0.946806	0.08786	N	0.894020	T	0.35098	0.0920	L	0.29908	0.895	0.09310	N	1	B;B	0.22983	0.078;0.019	B;B	0.19391	0.025;0.011	T	0.32640	-0.9899	10	0.72032	D	0.01	-2.6576	5.8505	0.18689	0.1014:0.0:0.7013:0.1972	.	55;8	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	R	8;55;55	ENSP00000378313:P8R;ENSP00000301773:P55R;ENSP00000435444:P55R	ENSP00000301773:P55R	P	-	2	0	RAB3IL1	61432343	0.289000	0.24334	0.050000	0.19076	0.943000	0.58893	2.357000	0.44125	0.491000	0.27793	0.561000	0.74099	CCA		0.682	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		4	7	0	0	0	0.000602	0	4	7				
ASRGL1	80150	broad.mit.edu	37	11	62156712	62156712	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:62156712C>T	ENST00000415229.2	+	5	814	c.599C>T	c.(598-600)tCa>tTa	p.S200L	ASRGL1_ENST00000535727.1_Missense_Mutation_p.S72L|ASRGL1_ENST00000301776.5_Missense_Mutation_p.S200L|CTD-2531D15.5_ENST00000526045.1_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	200					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GTTGGGGACTCACCGTGTCTA	0.582																																							uc001nte.3		NA																	0					0						c.(598-600)TCA>TTA		asparaginase-like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						91.0	86.0	88.0					11																	62156712		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62156712C>T		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.599C>T	11.37:g.62156712C>T	ENSP00000400057:p.Ser200Leu					ASRGL1_uc001ntf.3_Missense_Mutation_p.S200L|ASRGL1_uc001ntg.3_Missense_Mutation_p.S72L	p.S200L	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN			5	883	+			200					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.599C>T	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	.	19.39	3.817500	0.70912	.	.	ENSG00000162174	ENST00000415229;ENST00000535727;ENST00000301776	D;D;D	0.92048	-2.96;-2.96;-2.96	5.34	4.43	0.53597	.	0.305990	0.33364	N	0.004988	D	0.97328	0.9126	H	0.98446	4.235	0.27626	N	0.948181	D	0.55605	0.972	D	0.65874	0.939	D	0.92959	0.6387	10	0.87932	D	0	-4.1	11.5501	0.50716	0.0:0.9134:0.0:0.0866	.	200	Q7L266	ASGL1_HUMAN	L	200;72;200	ENSP00000400057:S200L;ENSP00000443284:S72L;ENSP00000301776:S200L	ENSP00000301776:S200L	S	+	2	0	ASRGL1	61913288	0.951000	0.32395	0.071000	0.20095	0.366000	0.29705	6.621000	0.74228	1.250000	0.43966	0.655000	0.94253	TCA		0.582	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		22	20	0	0	0	0.002299	0	22	20				
SLC22A25	387601	broad.mit.edu	37	11	62931309	62931309	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:62931309C>A	ENST00000306494.6	-	9	1630	c.1631G>T	c.(1630-1632)aGc>aTc	p.S544I	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAGCACAGAGCTCCTCTGAGG	0.507																																							uc001nwr.1		NA																	0				ovary(3)|skin(1)	4						c.(1630-1632)AGC>ATC		putative UST1-like organic anion transporter							130.0	126.0	128.0					11																	62931309		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62931309C>A	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1631G>T	11.37:g.62931309C>A	ENSP00000307443:p.Ser544Ile					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA	p.S544I	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			9	1631	-			544			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.1631G>T	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	C	5.151	0.213463	0.09757	.	.	ENSG00000196600	ENST00000306494	T	0.64618	-0.11	4.2	-8.4	0.00965	.	6.801970	0.00792	U	0.001347	T	0.36991	0.0987	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.06405	0.002	T	0.42327	-0.9458	10	0.72032	D	0.01	.	5.465	0.16637	0.103:0.5978:0.077:0.2222	.	544	Q6T423	S22AP_HUMAN	I	544	ENSP00000307443:S544I	ENSP00000307443:S544I	S	-	2	0	SLC22A25	62687885	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.595000	0.02093	-3.510000	0.00150	-1.486000	0.00981	AGC		0.507	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		40	81	1	0	3.43241e-23	0.009718	6.28247e-23	40	81				
PLCB3	5331	broad.mit.edu	37	11	64032518	64032518	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:64032518C>T	ENST00000540288.1	+	23	2851	c.2748C>T	c.(2746-2748)tcC>tcT	p.S916S	PLCB3_ENST00000325234.5_Silent_p.S849S|PLCB3_ENST00000279230.6_Silent_p.S916S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	916					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGATGCCTCCCCCCGCCGGC	0.701																																							uc001nzb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2746-2748)TCC>TCT		phospholipase C beta 3							7.0	8.0	8.0					11																	64032518		2099	4164	6263	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64032518C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2748C>T	11.37:g.64032518C>T						PLCB3_uc009ypg.1_Silent_p.S916S|PLCB3_uc009yph.1_Silent_p.S849S|PLCB3_uc009ypi.2_Silent_p.S916S	p.S916S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			23	2748	+			916					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.2748C>T	CCDS8064.1																																																																																				0.701	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			7	4	0	0	0	0.001984	0	7	4				
NRXN2	9379	broad.mit.edu	37	11	64390478	64390478	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:64390478T>A	ENST00000377551.1	-	20	4131	c.3920A>T	c.(3919-3921)cAg>cTg	p.Q1307L	NRXN2_ENST00000377559.3_Missense_Mutation_p.Q1237L|NRXN2_ENST00000301894.2_Missense_Mutation_p.Q261L|NRXN2_ENST00000265459.6_Missense_Mutation_p.Q1307L|NRXN2_ENST00000409571.1_Missense_Mutation_p.Q1300L			Q9P2S2	NRX2A_HUMAN	neurexin 2	1307	Laminin G-like 6. {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)			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						CACCTGGCCCTGGAAGGGGCG	0.667																																							uc001oap.2		NA																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(781-783)CAG>CTG		neurexin 2 isoform beta precursor							14.0	17.0	16.0					11																	64390478		2195	4290	6485	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64390478T>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3920A>T	11.37:g.64390478T>A	ENSP00000366774:p.Gln1307Leu					NRXN2_uc001oar.2_Missense_Mutation_p.Q1307L|NRXN2_uc001oas.2_Missense_Mutation_p.Q1237L|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Missense_Mutation_p.Q974L	p.Q261L	NM_138734	NP_620063	P58401	NRX2B_HUMAN			6	1293	-			261			Extracellular (Potential).|Laminin G-like.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.782A>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341953	0.61073	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.29	4.29	0.51040	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	0.160643	0.24341	U	0.039373	D	0.82774	0.5110	L	0.49699	1.58	0.58432	D	0.999999	D;B;B;B	0.71674	0.998;0.031;0.124;0.047	D;B;B;B	0.81914	0.995;0.038;0.089;0.097	T	0.80668	-0.1280	10	0.32370	T	0.25	.	11.7315	0.51739	0.0:0.0:0.0:1.0	.	1237;1307;1053;261	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	L	261;1307;1237;1307;1237;1300;192	ENSP00000301894:Q261L;ENSP00000366774:Q1307L;ENSP00000366782:Q1237L;ENSP00000265459:Q1307L;ENSP00000386416:Q1300L;ENSP00000407374:Q192L	ENSP00000265459:Q1307L	Q	-	2	0	NRXN2	64147054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.856000	0.86956	1.933000	0.56026	0.459000	0.35465	CAG		0.667	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		10	4	0	0	0	0.000978	0	10	4				
CDC42BPG	55561	broad.mit.edu	37	11	64607593	64607593	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:64607593T>A	ENST00000342711.5	-	5	579	c.580A>T	c.(580-582)Agg>Tgg	p.R194W		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GGGCCCCACCTGTGGACATAA	0.667																																							uc001obs.3		NA																	0				lung(3)|central_nervous_system(1)	4						c.(580-582)AGG>TGG		CDC42 binding protein kinase gamma (DMPK-like)							34.0	32.0	33.0					11																	64607593		2199	4297	6496	SO:0001630	splice_region_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64607593T>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.581+1A>T	11.37:g.64607593T>A							p.R194W	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			5	580	-			194			Protein kinase.			Missense_Mutation	SNP	ENST00000342711.5	37	c.580A>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872043	0.91587	.	.	ENSG00000171219	ENST00000342711	T	0.50001	0.76	5.38	5.38	0.77491	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	0.64402	D	0.000007	D	0.82458	0.5041	H	0.99712	4.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89821	0.3989	10	0.87932	D	0	.	13.6366	0.62225	0.0:0.0:0.0:1.0	.	194	Q6DT37	MRCKG_HUMAN	W	194	ENSP00000345133:R194W	ENSP00000345133:R194W	R	-	1	2	CDC42BPG	64364169	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.003000	0.63959	2.173000	0.68751	0.533000	0.62120	AGG		0.667	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516	Missense_Mutation	11	9	0	0	0	0.008291	0	11	9				
SNX15	29907	broad.mit.edu	37	11	64795066	64795066	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:64795066G>T	ENST00000377244.3	+	1	187	c.57G>T	c.(55-57)agG>agT	p.R19S	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Missense_Mutation_p.R19S	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	19	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CGGACCCCAGGACTCACCCCA	0.622											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(56;269 1304 3324 8253)	Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.3		NA																	0				ovary(1)	1						c.(55-57)AGG>AGT		sorting nexin 15 isoform A							63.0	60.0	61.0					11																	64795066		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64795066G>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.57G>T	11.37:g.64795066G>T	ENSP00000366452:p.Arg19Ser		OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1079	SNX15_uc009ypy.2_Missense_Mutation_p.R19S|SNX15_uc001ocj.2_Missense_Mutation_p.R19S|SNX15_uc001ock.2_Missense_Mutation_p.R19S	p.R19S	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			4	710	+			19			PX.		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.57G>T	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587147	0.66105	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.33	3.47	0.39725	Phox homologous domain (5);	0.125167	0.56097	D	0.000036	T	0.46718	0.1407	L	0.34521	1.04	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.979;1.0	D;P;D	0.87578	0.998;0.825;0.998	T	0.38757	-0.9646	10	0.42905	T	0.14	3.189	5.533	0.16995	0.1707:0.1645:0.6648:0.0	.	19;19;19	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	S	19	ENSP00000366452:R19S;ENSP00000437277:R19S;ENSP00000431690:R19S;ENSP00000316410:R19S	ENSP00000316410:R19S	R	+	3	2	SNX15	64551642	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.595000	0.24029	0.826000	0.34661	0.643000	0.83706	AGG		0.622	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			52	32	1	0	2.14674e-31	0.00361	4.26949e-31	52	32				
NPAS4	266743	broad.mit.edu	37	11	66190227	66190227	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:66190227C>A	ENST00000311034.2	+	4	689	c.513C>A	c.(511-513)ggC>ggA	p.G171G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	171					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TTATTCGAGGCCGATTCCATG	0.592																																							uc001ohx.1		NA																	0					0						c.(511-513)GGC>GGA		neuronal PAS domain protein 4							117.0	111.0	113.0					11																	66190227		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190227C>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.513C>A	11.37:g.66190227C>A						NPAS4_uc010rpc.1_5'UTR	p.G171G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			4	689	+			171					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.513C>A	CCDS8138.1																																																																																				0.592	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		23	37	1	0	1.10513e-12	0.002299	1.60419e-12	23	37				
NPAS4	266743	broad.mit.edu	37	11	66190315	66190315	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:66190315C>A	ENST00000311034.2	+	4	777	c.601C>A	c.(601-603)Cca>Aca	p.P201T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	201					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAGACCCCGCCCAGGTCCTGG	0.622																																							uc001ohx.1		NA																	0					0						c.(601-603)CCA>ACA		neuronal PAS domain protein 4							59.0	62.0	61.0					11																	66190315		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190315C>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.601C>A	11.37:g.66190315C>A	ENSP00000311196:p.Pro201Thr					NPAS4_uc010rpc.1_Silent_p.A27A	p.P201T	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			4	777	+			201					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.601C>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164704	0.38217	.	.	ENSG00000174576	ENST00000311034	T	0.48836	0.8	5.52	4.6	0.57074	.	0.000000	0.56097	D	0.000037	T	0.33030	0.0849	N	0.19112	0.55	0.33632	D	0.606113	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	10	0.49607	T	0.09	-7.3836	12.6142	0.56567	0.0:0.9169:0.0:0.0831	.	201	Q8IUM7	NPAS4_HUMAN	T	201	ENSP00000311196:P201T	ENSP00000311196:P201T	P	+	1	0	NPAS4	65946891	0.002000	0.14202	1.000000	0.80357	0.849000	0.48306	0.630000	0.24553	2.591000	0.87537	0.609000	0.83330	CCA		0.622	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		17	35	1	0	3.41278e-10	0.00499	4.55038e-10	17	35				
NPAS4	266743	broad.mit.edu	37	11	66192356	66192356	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:66192356G>A	ENST00000311034.2	+	7	2171	c.1995G>A	c.(1993-1995)ctG>ctA	p.L665L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	665					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TTGGAGGACTGGAGCCCCTGG	0.612																																							uc001ohx.1		NA																	0					0						c.(1993-1995)CTG>CTA		neuronal PAS domain protein 4							91.0	96.0	95.0					11																	66192356		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192356G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1995G>A	11.37:g.66192356G>A						NPAS4_uc010rpc.1_Silent_p.L455L	p.L665L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	2171	+			665					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1995G>A	CCDS8138.1																																																																																				0.612	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		104	88	0	0	0	0.00361	0	104	88				
PC	5091	broad.mit.edu	37	11	66617321	66617321	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:66617321C>T	ENST00000393958.2	-	20	3001	c.2908G>A	c.(2908-2910)Gac>Aac	p.D970N	PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.D970N|PC_ENST00000529047.1_Missense_Mutation_p.D90N|PC_ENST00000393960.1_Missense_Mutation_p.D970N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	970					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTTGGCAGGTCCTTCAGTACC	0.637																																							uc001ojn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(2908-2910)GAC>AAC		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						51.0	50.0	50.0					11																	66617321		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617321C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2908G>A	11.37:g.66617321C>T	ENSP00000377530:p.Asp970Asn					PC_uc001ojo.1_Missense_Mutation_p.D970N|PC_uc001ojp.1_Missense_Mutation_p.D970N|PC_uc001ojm.1_5'UTR	p.D970N	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	19	2957	-		Melanoma(852;0.0525)	970					B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2908G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462438	0.43736	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.95853	-1.67;-3.83;-3.83;-3.83	5.01	5.01	0.66863	Carboxylase, conserved domain (1);	0.428673	0.25236	N	0.032130	D	0.96488	0.8854	M	0.77103	2.36	0.80722	D	1	B	0.26708	0.157	B	0.42771	0.397	D	0.95706	0.8753	10	0.54805	T	0.06	-37.9457	15.8561	0.78979	0.0:1.0:0.0:0.0	.	970	P11498	PYC_HUMAN	N	90;970;970;970	ENSP00000435905:D90N;ENSP00000377527:D970N;ENSP00000377530:D970N;ENSP00000377532:D970N	ENSP00000377527:D970N	D	-	1	0	PC	66373897	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.484000	0.53201	2.603000	0.88011	0.462000	0.41574	GAC		0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		21	35	0	0	0	0.001882	0	21	35				
ALDH3B2	222	broad.mit.edu	37	11	67431999	67431999	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:67431999C>A	ENST00000349015.3	-	8	1179	c.741G>T	c.(739-741)gaG>gaT	p.E247D	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.E247D|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	247					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GCATCACAGGCTCCGTCTCCT	0.657																																							uc001omr.2		NA																	0				lung(1)|kidney(1)	2						c.(739-741)GAG>GAT		aldehyde dehydrogenase 3B2	NADH(DB00157)						120.0	95.0	104.0					11																	67431999		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67431999C>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.741G>T	11.37:g.67431999C>A	ENSP00000255084:p.Glu247Asp					ALDH3B2_uc001oms.2_Missense_Mutation_p.E247D|ALDH3B2_uc009ysa.1_Missense_Mutation_p.E247D	p.E247D	NM_000695	NP_000686	P48448	AL3B2_HUMAN			8	1180	-			247					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.741G>T	CCDS31622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.648|2.648	-0.282720|-0.282720	0.05642|0.05642	.|.	.|.	ENSG00000132746|ENSG00000132746	ENST00000531248|ENST00000530069;ENST00000349015	.|T;T	.|0.75589	.|-0.95;-0.95	3.62|3.62	-2.93|-2.93	0.05598|0.05598	.|Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	.|0.117832	.|0.53938	.|N	.|0.000041	T|T	0.28433|0.28433	0.0703|0.0703	N|N	0.00633|0.00633	-1.31|-1.31	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.15870	.|0.014;0.014	T|T	0.47249|0.47249	-0.9132|-0.9132	5|10	.|0.02654	.|T	.|1	.|.	3.4552|3.4552	0.07512|0.07512	0.1058:0.369:0.3486:0.1765|0.1058:0.369:0.3486:0.1765	.|.	.|132;247	.|B4DSX1;P48448	.|.;AL3B2_HUMAN	S|D	18|247	.|ENSP00000431595:E247D;ENSP00000255084:E247D	.|ENSP00000255084:E247D	A|E	-|-	1|3	0|2	ALDH3B2|ALDH3B2	67188575|67188575	0.000000|0.000000	0.05858|0.05858	0.558000|0.558000	0.28319|0.28319	0.982000|0.982000	0.71751|0.71751	-2.666000|-2.666000	0.00847|0.00847	-0.296000|-0.296000	0.08947|0.08947	0.462000|0.462000	0.41574|0.41574	GCC|GAG		0.657	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		26	35	1	0	4.7796e-09	0.004656	6.12615e-09	26	35				
CPT1A	1374	broad.mit.edu	37	11	68529082	68529082	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:68529082C>A	ENST00000265641.5	-	16	2103	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	CPT1A_ENST00000539743.1_Missense_Mutation_p.G650V|CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000376618.2_Missense_Mutation_p.G650V|CPT1A_ENST00000540367.1_Missense_Mutation_p.G650V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	650					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GATCCCAGAGCCGGTCATGGC	0.498																																							uc001oog.3		NA																	0				skin(2)	2						c.(1948-1950)GGC>GTC		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						261.0	242.0	248.0					11																	68529082		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68529082C>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1949G>T	11.37:g.68529082C>A	ENSP00000265641:p.Gly650Val					CPT1A_uc001oof.3_Missense_Mutation_p.G650V|CPT1A_uc009ysj.2_Intron	p.G650V	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		16	2119	-	Esophageal squamous(3;3.28e-14)		650			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1949G>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249370	0.59103	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99529	1.0960	10	0.87932	D	0	.	18.9723	0.92719	0.0:1.0:0.0:0.0	.	650;650	P50416;P50416-2	CPT1A_HUMAN;.	V	650	ENSP00000439084:G650V;ENSP00000365803:G650V;ENSP00000265641:G650V;ENSP00000446108:G650V	ENSP00000265641:G650V	G	-	2	0	CPT1A	68285658	1.000000	0.71417	0.155000	0.22561	0.038000	0.13279	7.507000	0.81676	2.546000	0.85860	0.655000	0.94253	GGC		0.498	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		153	88	1	0	2.39385e-68	0.00361	5.1571e-68	153	88				
ARRB1	408	broad.mit.edu	37	11	74983955	74983955	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:74983955C>A	ENST00000420843.2	-	12	1079	c.982G>T	c.(982-984)Gtg>Ttg	p.V328L	ARRB1_ENST00000393505.4_Missense_Mutation_p.V328L|ARRB1_ENST00000360025.3_Missense_Mutation_p.V328L	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	328	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CGAGACACCACCAGCTTCACT	0.617																																							uc001owe.1		NA																	0				breast(2)	2						c.(982-984)GTG>TTG		arrestin beta 1 isoform A							101.0	89.0	93.0					11																	74983955		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74983955C>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.982G>T	11.37:g.74983955C>A	ENSP00000409581:p.Val328Leu					ARRB1_uc001owf.1_Missense_Mutation_p.V328L	p.V328L	NM_004041	NP_004032	P49407	ARRB1_HUMAN			12	1204	-			328			Interaction with TRAF6.		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.982G>T	CCDS44684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103995|3.103995	0.56291|0.56291	.|.	.|.	ENSG00000137486|ENSG00000137486	ENST00000532447|ENST00000420843;ENST00000393505;ENST00000360025	.|T;T;T	.|0.17054	.|2.3;2.3;2.3	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	.|0.180691	.|0.35525	.|N	.|0.003153	T|T	0.19967|0.19967	0.0480|0.0480	L|L	0.55017|0.55017	1.72|1.72	0.53688|0.53688	D|D	0.999973|0.999973	.|B;B	.|0.33171	.|0.2;0.4	.|B;B	.|0.34779	.|0.089;0.189	T|T	0.02411|0.02411	-1.1163|-1.1163	5|10	.|0.36615	.|T	.|0.2	-19.7686|-19.7686	15.2769|15.2769	0.73748|0.73748	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|328;328	.|P49407-2;P49407	.|.;ARRB1_HUMAN	V|L	152|328	.|ENSP00000409581:V328L;ENSP00000377141:V328L;ENSP00000353124:V328L	.|ENSP00000353124:V328L	G|V	-|-	2|1	0|0	ARRB1|ARRB1	74661603|74661603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.823000|3.823000	0.55715|0.55715	2.471000|2.471000	0.83476|0.83476	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.617	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		29	16	1	0	1.06647e-15	0.003755	1.67622e-15	29	16				
RAB30	27314	broad.mit.edu	37	11	82693371	82693371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:82693371C>A	ENST00000533486.1	-	6	732	c.448G>T	c.(448-450)Gag>Tag	p.E150*	RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Nonsense_Mutation_p.E150*|RAB30_ENST00000260056.2_Nonsense_Mutation_p.E150*|RAB30_ENST00000534141.1_Missense_Mutation_p.W148C	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	150					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCTGAGGTCTCCAGATAATAC	0.453																																							uc001ozu.2		NA																	0					0						c.(448-450)GAG>TAG		RAB30, member RAS oncogene family							129.0	116.0	120.0					11																	82693371		2203	4300	6503	SO:0001587	stop_gained	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82693371C>A	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.448G>T	11.37:g.82693371C>A	ENSP00000435189:p.Glu150*					RAB30_uc009yve.2_Nonsense_Mutation_p.E148*|RAB30_uc010rst.1_Nonsense_Mutation_p.E148*|RAB30_uc001ozv.2_Missense_Mutation_p.W146C	p.E150*	NM_014488	NP_055303	Q15771	RAB30_HUMAN			6	709	-			150					Q6FGK1|Q6MZH2|Q96CI8	Nonsense_Mutation	SNP	ENST00000533486.1	37	c.448G>T	CCDS8264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.721042|4.721042	0.89205|0.89205	.|.	.|.	ENSG00000137502|ENSG00000137502	ENST00000533486;ENST00000260056;ENST00000533014;ENST00000527633;ENST00000531021|ENST00000534141	.|T	.|0.62941	.|-0.01	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71204	.|0.3312	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|P	.|0.51415	.|0.669	.|T	.|0.69034	.|-0.5252	.|7	.|.	.|.	.|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|148	.|Q6MZH2	.|.	X|C	150;150;114;150;150|148	.|ENSP00000434974:W148C	.|.	E|W	-|-	1|3	0|0	RAB30|RAB30	82371019|82371019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.453	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		47	33	1	0	8.20599e-20	0.002852	1.42678e-19	47	33				
RAB30	27314	broad.mit.edu	37	11	82705151	82705151	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:82705151G>A	ENST00000533486.1	-	4	391	c.107C>T	c.(106-108)cCa>cTa	p.P36L	RAB30_ENST00000532548.1_Missense_Mutation_p.P36L|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Missense_Mutation_p.P36L|RAB30_ENST00000260056.2_Missense_Mutation_p.P36L|RAB30_ENST00000525117.1_Intron|RAB30_ENST00000534141.1_Missense_Mutation_p.P36L	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	36					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCCTTGACCTGGGGGGAAAAG	0.383																																							uc001ozu.2		NA																	0					0						c.(106-108)CCA>CTA		RAB30, member RAS oncogene family							107.0	108.0	107.0					11																	82705151		2203	4300	6503	SO:0001583	missense	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82705151G>A	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.107C>T	11.37:g.82705151G>A	ENSP00000435189:p.Pro36Leu					RAB30_uc009yve.2_Missense_Mutation_p.P34L|RAB30_uc010rst.1_Missense_Mutation_p.P34L|RAB30_uc001ozv.2_Missense_Mutation_p.P34L|RAB30_uc009yvg.1_Intron	p.P36L	NM_014488	NP_055303	Q15771	RAB30_HUMAN			4	368	-			36					Q6FGK1|Q6MZH2|Q96CI8	Missense_Mutation	SNP	ENST00000533486.1	37	c.107C>T	CCDS8264.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445255	0.83993	.	.	ENSG00000137502	ENST00000533486;ENST00000534141;ENST00000260056;ENST00000527633;ENST00000531021;ENST00000534301;ENST00000532548;ENST00000526205;ENST00000534103;ENST00000533276;ENST00000528379	T;T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	4.78	4.78	0.61160	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.99	D;P	0.63033	0.91;0.772	T	0.78380	-0.2226	9	.	.	.	.	17.8253	0.88664	0.0:0.0:1.0:0.0	.	36;36	Q6MZH2;Q15771	.;RAB30_HUMAN	L	36	ENSP00000435189:P36L;ENSP00000434974:P36L;ENSP00000260056:P36L;ENSP00000435089:P36L;ENSP00000434953:P36L;ENSP00000432193:P36L;ENSP00000437235:P36L;ENSP00000432336:P36L;ENSP00000435542:P36L;ENSP00000434528:P36L;ENSP00000434106:P36L	.	P	-	2	0	RAB30	82382799	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.899000	0.87370	2.210000	0.71456	0.462000	0.41574	CCA		0.383	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		30	89	0	0	0	0.002096	0	30	89				
DLG2	1740	broad.mit.edu	37	11	83497829	83497829	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:83497829C>A	ENST00000532653.1	-	13	1716	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	DLG2_ENST00000330014.6_Missense_Mutation_p.G411C|DLG2_ENST00000418306.2_Missense_Mutation_p.G369C|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398301.2_Missense_Mutation_p.G511C|DLG2_ENST00000376104.2_Missense_Mutation_p.G577C|DLG2_ENST00000280241.8_Missense_Mutation_p.G511C|DLG2_ENST00000531015.1_Missense_Mutation_p.G439C|DLG2_ENST00000398309.2_Missense_Mutation_p.G472C|DLG2_ENST00000537455.1_Missense_Mutation_p.G226C|DLG2_ENST00000524982.1_Missense_Mutation_p.G472C|DLG2_ENST00000543673.1_Missense_Mutation_p.G577C			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	214	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGTCAATGCCATTCACCTGA	0.458																																							uc001paj.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(1414-1416)GGC>TGC		chapsyn-110 isoform 2							68.0	66.0	67.0					11																	83497829		1947	4149	6096	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83497829C>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1414G>T	11.37:g.83497829C>A	ENSP00000435849:p.Gly472Cys					DLG2_uc001pai.2_Missense_Mutation_p.G369C|DLG2_uc010rsy.1_Missense_Mutation_p.G439C|DLG2_uc010rsz.1_Missense_Mutation_p.G472C|DLG2_uc010rta.1_Missense_Mutation_p.G472C|DLG2_uc001pak.2_Missense_Mutation_p.G577C|DLG2_uc010rtb.1_Missense_Mutation_p.G439C|DLG2_uc001pal.1_Missense_Mutation_p.G472C|DLG2_uc001pam.1_Missense_Mutation_p.G511C	p.G472C	NM_001364	NP_001355	Q15700	DLG2_HUMAN			13	1717	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	472			PDZ 3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1414G>T		.	.	.	.	.	.	.	.	.	.	C	28.5	4.924223	0.92319	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.59	5.59	0.84812	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.77572	0.4150	H	0.97051	3.93	0.80722	D	1	D;D;D;P;D;D;B;D	0.89917	1.0;0.995;0.985;0.892;1.0;0.998;0.438;0.998	D;D;D;P;D;D;P;D	0.87578	0.998;0.939;0.949;0.823;0.992;0.937;0.559;0.975	D	0.85306	0.1076	9	.	.	.	.	18.3632	0.90382	0.0:1.0:0.0:0.0	.	439;472;472;411;511;577;472;369	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	C	472;577;369;577;511;411;226;472;472;577;439;511	ENSP00000381355:G472C;ENSP00000365272:G577C;ENSP00000402275:G369C;ENSP00000441994:G577C;ENSP00000280241:G511C;ENSP00000381353:G411C;ENSP00000443248:G226C;ENSP00000432894:G472C;ENSP00000435849:G472C;ENSP00000433848:G439C;ENSP00000381346:G511C	.	G	-	1	0	DLG2	83175477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.133000	0.77259	2.614000	0.88457	0.650000	0.86243	GGC		0.458	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		33	18	1	0	5.8336e-16	0.003271	9.23006e-16	33	18				
PICALM	8301	broad.mit.edu	37	11	85725988	85725988	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:85725988T>C	ENST00000393346.3	-	5	619	c.471A>G	c.(469-471)agA>agG	p.R157R	PICALM_ENST00000532317.1_Silent_p.R157R|PICALM_ENST00000526033.1_Silent_p.R157R|PICALM_ENST00000356360.5_Silent_p.R157R|PICALM_ENST00000528398.1_Silent_p.R106R			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	157					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTTCATTGTTCTCATAACTC	0.328			T	"""MLLT10, MLL"""	"""TALL, AML, """																																		uc001pbm.2		NA		Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	MLLT10|MLL		TALL|AML|		0				urinary_tract(1)|ovary(1)	2						c.(469-471)AGA>AGG		phosphatidylinositol-binding clathrin assembly							120.0	111.0	114.0					11																	85725988		2201	4295	6496	SO:0001819	synonymous_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85725988T>C	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.471A>G	11.37:g.85725988T>C						PICALM_uc001pbl.2_Silent_p.R157R|PICALM_uc001pbn.2_Silent_p.R157R|PICALM_uc010rtl.1_Silent_p.R106R	p.R157R	NM_007166	NP_009097	Q13492	PICAL_HUMAN			5	757	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	157					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	c.471A>G	CCDS8272.1																																																																																				0.328	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		7	24	0	0	0	0.001984	0	7	24				
FZD4	8322	broad.mit.edu	37	11	86662732	86662732	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:86662732C>A	ENST00000531380.1	-	2	1371	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	356					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTTTCACTGCGGGGATGGCC	0.483																																							uc001pce.2		NA																	0				large_intestine(1)	1						c.(1066-1068)GCA>TCA		frizzled 4 precursor							92.0	85.0	87.0					11																	86662732		2201	4299	6500	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662732C>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1066G>T	11.37:g.86662732C>A	ENSP00000434034:p.Ala356Ser					PRSS23_uc001pcc.1_RNA	p.A356S	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN			2	1372	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	356			Helical; Name=4; (Potential).		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.1066G>T	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301755	0.60195	.	.	ENSG00000174804	ENST00000531380	T	0.45276	0.9	5.59	5.59	0.84812	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	L	0.55103	1.725	0.80722	D	1	D	0.65815	0.995	D	0.65874	0.939	T	0.55386	-0.8149	9	.	.	.	.	19.5945	0.95530	0.0:1.0:0.0:0.0	.	356	Q9ULV1	FZD4_HUMAN	S	356	ENSP00000434034:A356S	.	A	-	1	0	FZD4	86340380	1.000000	0.71417	0.705000	0.30386	0.990000	0.78478	7.818000	0.86416	2.642000	0.89623	0.561000	0.74099	GCA		0.483	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		49	26	1	0	2.64894e-19	0.00361	4.55017e-19	49	26				
FAT3	120114	broad.mit.edu	37	11	92086947	92086947	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:92086947C>A	ENST00000298047.6	+	1	1686	c.1669C>A	c.(1669-1671)Cgc>Agc	p.R557S	FAT3_ENST00000541502.1_Missense_Mutation_p.R557S|FAT3_ENST00000409404.2_Missense_Mutation_p.R557S|FAT3_ENST00000525166.1_Missense_Mutation_p.R407S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCACCATACCGCCATGAAAG	0.418										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(1669-1671)CGC>AGC		FAT tumor suppressor homolog 3							80.0	81.0	80.0					11																	92086947		1845	4102	5947	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086947C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1669C>A	11.37:g.92086947C>A	ENSP00000298047:p.Arg557Ser	TCGA Ovarian(4;0.039)					p.R557S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	1686	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	557			Cadherin 5.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.1669C>A		.	.	.	.	.	.	.	.	.	.	C	14.21	2.466335	0.43839	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.82	5.82	0.92795	.	.	.	.	.	T	0.58119	0.2100	L	0.27053	0.805	0.48975	D	0.999731	D	0.89917	1.0	D	0.91635	0.999	T	0.53767	-0.8392	9	0.34782	T	0.22	.	19.0792	0.93175	0.0:1.0:0.0:0.0	.	557	Q8TDW7-3	.	S	557;557;557;407	ENSP00000298047:R557S;ENSP00000387040:R557S;ENSP00000443786:R557S;ENSP00000432586:R407S	ENSP00000298047:R557S	R	+	1	0	FAT3	91726595	1.000000	0.71417	0.997000	0.53966	0.585000	0.36419	6.184000	0.72008	2.755000	0.94549	0.591000	0.81541	CGC		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		17	40	1	0	3.45872e-05	0.004007	3.89345e-05	17	40				
FAT3	120114	broad.mit.edu	37	11	92616385	92616385	+	Missense_Mutation	SNP	G	G	T	rs200588829	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:92616385G>T	ENST00000298047.6	+	23	12780	c.12763G>T	c.(12763-12765)Ggg>Tgg	p.G4255W	FAT3_ENST00000409404.2_Missense_Mutation_p.G4255W|FAT3_ENST00000525166.1_Missense_Mutation_p.G4105W|FAT3_ENST00000533797.1_Missense_Mutation_p.G590W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4255					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCGTGGACGGGCTGGGAGG	0.667										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(12763-12765)GGG>TGG		FAT tumor suppressor homolog 3							75.0	91.0	86.0					11																	92616385		2128	4221	6349	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616385G>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.12763G>T	11.37:g.92616385G>T	ENSP00000298047:p.Gly4255Trp	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.G695W	p.G4255W	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12780	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4255			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12763G>T		.	.	.	.	.	.	.	.	.	.	G	19.00	3.741231	0.69304	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.87729	-0.98;-1.14;-0.99;-2.29	5.85	3.94	0.45596	.	.	.	.	.	D	0.89581	0.6756	M	0.74881	2.28	0.80722	D	1	D;B	0.61697	0.99;0.404	P;B	0.52823	0.71;0.067	D	0.90075	0.4166	9	0.66056	D	0.02	.	11.1674	0.48552	0.069:0.1295:0.8016:0.0	.	4255;4255	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	W	4255;4255;4105;590	ENSP00000298047:G4255W;ENSP00000387040:G4255W;ENSP00000432586:G4105W;ENSP00000436399:G590W	ENSP00000298047:G4255W	G	+	1	0	FAT3	92256033	0.995000	0.38212	0.973000	0.42090	0.996000	0.88848	3.146000	0.50631	1.431000	0.47355	0.655000	0.94253	GGG		0.667	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		37	46	1	0	4.0492e-12	0.006999	5.80671e-12	37	46				
MRE11A	4361	broad.mit.edu	37	11	94180593	94180593	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:94180593C>A	ENST00000323929.3	-	15	1797	c.1575G>T	c.(1573-1575)agG>agT	p.R525S	MRE11A_ENST00000393241.4_Missense_Mutation_p.R525S|MRE11A_ENST00000323977.3_Missense_Mutation_p.R525S|MRE11A_ENST00000407439.3_Missense_Mutation_p.R528S	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	525					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTGCTCTGGCCCTGGTCATAG	0.418								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																														uc001peu.2		NA																	0				breast(4)|lung(1)	5						c.(1573-1575)AGG>AGT	Homologous_recombination	meiotic recombination 11 homolog A isoform 1							75.0	69.0	71.0					11																	94180593		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like_Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94180593C>A	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1575G>T	11.37:g.94180593C>A	ENSP00000325863:p.Arg525Ser					MRE11A_uc001pev.2_Missense_Mutation_p.R525S|MRE11A_uc009ywj.2_Missense_Mutation_p.R528S	p.R525S	NM_005591	NP_005582	P49959	MRE11_HUMAN			15	1764	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	525					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1575G>T	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516921	0.27123	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.74842	-0.88;-0.88;-0.87;-0.88	5.45	3.55	0.40652	.	0.086239	0.85682	D	0.000000	T	0.69522	0.3120	M	0.66939	2.045	0.80722	D	1	P;B;P	0.34800	0.469;0.259;0.469	B;B;B	0.32624	0.149;0.067;0.149	T	0.65874	-0.6062	10	0.33141	T	0.24	-16.8616	12.1076	0.53821	0.0:0.8566:0.0:0.1434	.	528;525;525	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	S	525;528;525;525	ENSP00000325863:R525S;ENSP00000385614:R528S;ENSP00000326094:R525S;ENSP00000376933:R525S	ENSP00000325863:R525S	R	-	3	2	MRE11A	93820241	1.000000	0.71417	0.987000	0.45799	0.130000	0.20726	0.779000	0.26746	0.759000	0.33084	0.655000	0.94253	AGG		0.418	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		18	14	1	0	1.67942e-08	0.006122	2.1089e-08	18	14				
BIRC2	329	broad.mit.edu	37	11	102239280	102239280	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:102239280G>T	ENST00000227758.2	+	6	2765		c.e6+1		BIRC2_ENST00000532672.1_Splice_Site|BIRC2_ENST00000530675.1_Splice_Site|BIRC2_ENST00000527910.1_Splice_Site	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2						apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|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)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	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)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGCATCAGGTATTTGGGGA	0.398																																							uc001pgy.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.e6+1		baculoviral IAP repeat-containing protein 2							125.0	132.0	130.0					11																	102239280		2203	4299	6502	SO:0001630	splice_region_variant	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102239280G>T	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1366+1G>T	11.37:g.102239280G>T						BIRC2_uc010ruq.1_Splice_Site_p.D407_splice|BIRC2_uc010rur.1_Splice_Site_p.D456_splice	p.D456_splice	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	2765	+	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)						B4E026|Q16516|Q4TTG0	Splice_Site	SNP	ENST00000227758.2	37	c.1366_splice	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833346	0.71258	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0618	0.89379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC2	101744490	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.233000	0.95337	2.354000	0.79902	0.484000	0.47621	.		0.398	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166	Intron	19	13	1	0	2.4624e-09	0.008871	3.1819e-09	19	13				
MMP7	4316	broad.mit.edu	37	11	102398608	102398608	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:102398608C>A	ENST00000260227.4	-	2	267	c.215G>T	c.(214-216)gGa>gTa	p.G72V		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	72					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	GTTTAACATTCCAGTTATAGG	0.393																																							uc001phb.2		NA																	0				ovary(1)	1						c.(214-216)GGA>GTA		matrix metalloproteinase 7 preproprotein							90.0	98.0	95.0					11																	102398608		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102398608C>A	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.215G>T	11.37:g.102398608C>A	ENSP00000260227:p.Gly72Val					MMP7_uc009yxd.2_Missense_Mutation_p.G72V|MMP7_uc010rus.1_Missense_Mutation_p.G72V	p.G72V	NM_002423	NP_002414	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	2	262	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	72					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.215G>T	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652387	0.67472	.	.	ENSG00000137673	ENST00000260227	D	0.90197	-2.63	5.39	5.39	0.77823	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.53938	D	0.000055	D	0.97120	0.9059	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.982;1.0	D	0.98202	1.0468	10	0.87932	D	0	-7.5588	19.1609	0.93531	0.0:1.0:0.0:0.0	.	72;72;72	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	V	72	ENSP00000260227:G72V	ENSP00000260227:G72V	G	-	2	0	MMP7	101903818	1.000000	0.71417	0.946000	0.38457	0.262000	0.26303	4.560000	0.60802	2.537000	0.85549	0.563000	0.77884	GGA		0.393	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			23	24	1	0	3.10358e-05	0.002299	3.50476e-05	23	24				
MMP8	4317	broad.mit.edu	37	11	102593335	102593335	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:102593335C>A	ENST00000236826.3	-	2	270	c.172G>T	c.(172-174)Gtg>Ttg	p.V58L		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	58					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TCAACGATCACATTAGTGCCA	0.438																																							uc001phe.2		NA																	0				ovary(3)|breast(1)	4						c.(172-174)GTG>TTG		matrix metalloproteinase 8 preproprotein							162.0	159.0	160.0					11																	102593335		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102593335C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.172G>T	11.37:g.102593335C>A	ENSP00000236826:p.Val58Leu					MMP8_uc010rut.1_5'UTR|MMP8_uc010ruu.1_Missense_Mutation_p.V35L	p.V58L	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	2	271	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	58					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.172G>T	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.501|7.501	0.652770|0.652770	0.14580|0.14580	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000438475|ENST00000236826;ENST00000544383	.|T	.|0.35048	.|1.33	5.92|5.92	-10.9|-10.9	0.00192|0.00192	.|Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	.|1.224480	.|0.05770	.|N	.|0.606627	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.01250|0.01250	-0.93|-0.93	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.15093|0.15093	-1.0449|-1.0449	5|10	.|0.07325	.|T	.|0.83	.|.	5.4448|5.4448	0.16529|0.16529	0.0668:0.2776:0.3627:0.2928|0.0668:0.2776:0.3627:0.2928	.|.	.|58;58	.|A8K9E4;P22894	.|.;MMP8_HUMAN	F|L	33|58;35	.|ENSP00000236826:V58L	.|ENSP00000236826:V58L	C|V	-|-	2|1	0|0	MMP8|MMP8	102098545|102098545	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.026000|0.026000	0.11368|0.11368	-2.178000|-2.178000	0.01260|0.01260	-1.336000|-1.336000	0.02238|0.02238	-0.238000|-0.238000	0.12139|0.12139	TGT|GTG		0.438	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		29	24	1	0	1.5548e-18	0.005443	2.6295e-18	29	24				
DYNC2H1	79659	broad.mit.edu	37	11	103124057	103124057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:103124057C>A	ENST00000375735.2	+	66	10230	c.10086C>A	c.(10084-10086)taC>taA	p.Y3362*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Y3369*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3362	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTATTGACTACAATGAAGAAT	0.348																																							uc001pho.2		NA																	0					0						c.(10084-10086)TAC>TAA		dynein, cytoplasmic 2, heavy chain 1							96.0	92.0	93.0					11																	103124057		1822	4076	5898	SO:0001587	stop_gained	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103124057C>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10086C>A	11.37:g.103124057C>A	ENSP00000364887:p.Tyr3362*					DYNC2H1_uc001phn.1_Nonsense_Mutation_p.Y3369*|DYNC2H1_uc009yxe.1_Intron	p.Y3362*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	66	10230	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3362			AAA 5 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	c.10086C>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	51	18.117001	0.99899	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	6.08	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7731	0.23604	0.0:0.7031:0.0:0.2969	.	.	.	.	X	3362;3369	.	ENSP00000364887:Y3362X	Y	+	3	2	DYNC2H1	102629267	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.765000	0.26546	1.595000	0.50050	-0.229000	0.12294	TAC		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		17	21	1	0	4.14922e-12	0.004007	5.92033e-12	17	21				
DDI1	414301	broad.mit.edu	37	11	103907855	103907855	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:103907855C>A	ENST00000302259.3	+	1	548	c.305C>A	c.(304-306)cCt>cAt	p.P102H	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	102							aspartic-type endopeptidase activity (GO:0004190)			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)		ATTGCGGTGCCTGGGACGTCC	0.647																																							uc001phr.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(304-306)CCT>CAT		DDI1, DNA-damage inducible 1, homolog 1							114.0	113.0	114.0					11																	103907855		2201	4299	6500	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907855C>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.305C>A	11.37:g.103907855C>A	ENSP00000302805:p.Pro102His					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.P102H	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	548	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	102					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.305C>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004294	0.93287	.	.	ENSG00000170967	ENST00000302259	T	0.29397	1.57	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.84585	2.705	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.66164	-0.5992	10	0.87932	D	0	-4.8031	16.2348	0.82365	0.0:1.0:0.0:0.0	.	102	Q8WTU0	DDI1_HUMAN	H	102	ENSP00000302805:P102H	ENSP00000302805:P102H	P	+	2	0	DDI1	103413065	1.000000	0.71417	0.629000	0.29254	0.386000	0.30323	6.939000	0.75911	2.781000	0.95711	0.655000	0.94253	CCT		0.647	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		14	63	1	0	2.31682e-05	0.003163	2.61838e-05	14	63				
LAYN	143903	broad.mit.edu	37	11	111414669	111414669	+	Missense_Mutation	SNP	G	G	T	rs574688254		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:111414669G>T	ENST00000375615.3	+	3	316	c.131G>T	c.(130-132)gGg>gTg	p.G44V	LAYN_ENST00000436913.2_5'UTR|LAYN_ENST00000533265.1_Missense_Mutation_p.G36V|LAYN_ENST00000525126.1_Missense_Mutation_p.G44V|LAYN_ENST00000375614.2_Missense_Mutation_p.G36V|LAYN_ENST00000528924.1_3'UTR	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	44						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	TGCCGGGGAGGGACACAGAGG	0.493																																					Ovarian(17;551 586 12136 22082 22900)	Ovarian(17;551 586 12136 22082 22900)	uc001plr.1		NA																	0					0						c.(130-132)GGG>GTG		layilin							53.0	59.0	57.0					11																	111414669		2201	4297	6498	SO:0001583	missense	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111414669G>T		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.131G>T	11.37:g.111414669G>T	ENSP00000364765:p.Gly44Val					LAYN_uc001plp.1_Missense_Mutation_p.G36V|LAYN_uc001plq.1_Missense_Mutation_p.G44V|LAYN_uc001pls.1_Missense_Mutation_p.G36V|LAYN_uc010rwg.1_5'UTR|LAYN_uc010rwh.1_5'UTR	p.G44V	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	3	467	+		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)	44			Extracellular (Potential).		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	ENST00000375615.3	37	c.131G>T	CCDS58178.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309116	0.81247	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000525126;ENST00000533265;ENST00000541011	T;T;T;T	0.12672	2.66;3.16;3.08;2.66	4.5	4.5	0.54988	C-type lectin (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.98;0.999;0.98;1.0	T	0.08452	-1.0721	10	0.38643	T	0.18	-22.1707	17.0033	0.86386	0.0:0.0:1.0:0.0	.	36;44;44;36	E9PMI0;Q6UX15;E9PQU7;Q6UX15-2	.;LAYN_HUMAN;.;.	V	36;44;44;36;36	ENSP00000364764:G36V;ENSP00000364765:G44V;ENSP00000434328:G44V;ENSP00000434972:G36V	ENSP00000364764:G36V	G	+	2	0	LAYN	110919879	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.263000	0.95617	2.321000	0.78463	0.462000	0.41574	GGG		0.493	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834		9	43	1	0	5.4927e-09	0.004482	7.02119e-09	9	43				
DRD2	1813	broad.mit.edu	37	11	113286302	113286302	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113286302G>T	ENST00000362072.3	-	5	908	c.564C>A	c.(562-564)gcC>gcA	p.A188A	DRD2_ENST00000538967.1_Silent_p.A188A|DRD2_ENST00000544518.1_Silent_p.A187A|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.A188A|DRD2_ENST00000355319.2_Silent_p.A188A|DRD2_ENST00000346454.3_Silent_p.A188A	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	188					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)			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)	AGACCACGAAGGCCGGGTTGG	0.602																																							uc001pnz.2		NA																	0				pancreas(1)|skin(1)	2						c.(562-564)GCC>GCA		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)						159.0	122.0	134.0					11																	113286302		2201	4296	6497	SO:0001819	synonymous_variant	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.chr11:113286302G>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.564C>A	11.37:g.113286302G>T						DRD2_uc010rwv.1_Silent_p.A187A|DRD2_uc001poa.3_Silent_p.A188A|DRD2_uc001pob.3_Silent_p.A188A|DRD2_uc009yyr.1_Silent_p.A188A	p.A188A	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)	4	885	-		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)	188			Extracellular (By similarity).		Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.564C>A	CCDS8361.1																																																																																				0.602	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		8	9	1	0	0.000274275	0.004482	0.000296559	8	9				
DRD2	1813	broad.mit.edu	37	11	113287642	113287642	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113287642C>G	ENST00000362072.3	-	4	819	c.475G>C	c.(475-477)Gtc>Ctc	p.V159L	DRD2_ENST00000538967.1_Missense_Mutation_p.V159L|DRD2_ENST00000544518.1_Missense_Mutation_p.V158L|DRD2_ENST00000535984.1_Intron|DRD2_ENST00000542968.1_Missense_Mutation_p.V159L|DRD2_ENST00000355319.2_Missense_Mutation_p.V159L|DRD2_ENST00000346454.3_Missense_Mutation_p.V159L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	159					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)			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)	AGGACCCAGACGATGGAGATC	0.592																																							uc001pnz.2		NA																	0				pancreas(1)|skin(1)	2						c.(475-477)GTC>CTC		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)						149.0	113.0	125.0					11																	113287642		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.chr11:113287642C>G	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.475G>C	11.37:g.113287642C>G	ENSP00000354859:p.Val159Leu					DRD2_uc010rwv.1_Missense_Mutation_p.V158L|DRD2_uc001poa.3_Missense_Mutation_p.V159L|DRD2_uc001pob.3_Missense_Mutation_p.V159L|DRD2_uc009yyr.1_Missense_Mutation_p.V159L	p.V159L	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)	3	796	-		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)	159			Helical; Name=4; (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.475G>C	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099719	0.94197	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;0.999;0.998;1.0	D	0.90212	0.4265	10	0.87932	D	0	.	19.4311	0.94768	0.0:1.0:0.0:0.0	.	158;159;159;159	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	L	159;159;159;158;159;159;159	ENSP00000347474:V159L;ENSP00000278597:V159L;ENSP00000354859:V159L;ENSP00000441068:V158L;ENSP00000442172:V159L;ENSP00000438215:V159L;ENSP00000438419:V159L	ENSP00000278597:V159L	V	-	1	0	DRD2	112792852	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.814000	0.86154	2.557000	0.86248	0.655000	0.94253	GTC		0.592	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		3	20	0	0	0	0.004672	0	3	20				
HTR3A	3359	broad.mit.edu	37	11	113857438	113857438	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113857438A>T	ENST00000504030.2	+	7	1349	c.904A>T	c.(904-906)Act>Tct	p.T302S	HTR3A_ENST00000375498.2_Missense_Mutation_p.T308S|HTR3A_ENST00000355556.2_Missense_Mutation_p.T308S|HTR3A_ENST00000506841.2_Missense_Mutation_p.T302S|HTR3A_ENST00000535865.1_Missense_Mutation_p.T46S|HTR3A_ENST00000299961.5_Missense_Mutation_p.T287S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	302					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TGCCATCGGCACTCCTCTCAT	0.597																																							uc010rxb.1		NA																	0					0						c.(922-924)ACT>TCT		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						101.0	87.0	92.0					11																	113857438		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857438A>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.904A>T	11.37:g.113857438A>T	ENSP00000424189:p.Thr302Ser					HTR3A_uc010rxa.1_Missense_Mutation_p.T308S|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.T287S	p.T308S	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1155	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	302			Extracellular (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.922A>T		.	.	.	.	.	.	.	.	.	.	A	20.6	4.024407	0.75390	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.84800	-1.9;-0.57;-1.9;-0.57;-1.9;-1.9	4.89	3.74	0.42951	.	0.047858	0.85682	D	0.000000	D	0.91734	0.7386	M	0.82517	2.595	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.74023	0.942;0.982;0.942	D	0.91892	0.5524	10	0.87932	D	0	-14.0242	11.9576	0.52991	0.8545:0.1455:0.0:0.0	.	287;308;308	B4DSY6;G5E986;Q7KZM7	.;.;.	S	302;308;308;302;46;287	ENSP00000424189:T302S;ENSP00000347754:T308S;ENSP00000364648:T308S;ENSP00000424776:T302S;ENSP00000437776:T46S;ENSP00000299961:T287S	ENSP00000299961:T287S	T	+	1	0	HTR3A	113362648	1.000000	0.71417	0.957000	0.39632	0.692000	0.40212	9.287000	0.95975	0.791000	0.33826	0.459000	0.35465	ACT		0.597	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		16	17	0	0	0	0.00499	0	16	17				
HTR3A	3359	broad.mit.edu	37	11	113857618	113857618	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113857618G>A	ENST00000504030.2	+	8	1433	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	HTR3A_ENST00000375498.2_Missense_Mutation_p.V336M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V368M|HTR3A_ENST00000506841.2_Missense_Mutation_p.V362M|HTR3A_ENST00000535865.1_Missense_Mutation_p.V74M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V315M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	330					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TGTGCGGCTGGTGCACAAGCA	0.577																																							uc010rxb.1		NA																	0					0						c.(1102-1104)GTG>ATG		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						76.0	65.0	69.0					11																	113857618		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857618G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.988G>A	11.37:g.113857618G>A	ENSP00000424189:p.Val330Met					HTR3A_uc010rxa.1_Missense_Mutation_p.V336M|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V315M	p.V368M	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1335	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	330			Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1102G>A		.	.	.	.	.	.	.	.	.	.	G	27.3	4.818468	0.90790	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.84370	-1.84;-0.51;-1.84;-0.51;-1.84;-1.84	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.90222	0.6943	L	0.43923	1.385	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.85130	0.997;0.974;0.997	D	0.90884	0.4756	10	0.87932	D	0	-24.2931	19.4662	0.94943	0.0:0.0:1.0:0.0	.	315;368;336	B4DSY6;G5E986;Q7KZM7	.;.;.	M	330;368;336;362;74;315	ENSP00000424189:V330M;ENSP00000347754:V368M;ENSP00000364648:V336M;ENSP00000424776:V362M;ENSP00000437776:V74M;ENSP00000299961:V315M	ENSP00000299961:V315M	V	+	1	0	HTR3A	113362828	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.735000	0.74806	2.666000	0.90696	0.561000	0.74099	GTG		0.577	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		17	16	0	0	0	0.004007	0	17	16				
HTR3A	3359	broad.mit.edu	37	11	113857766	113857766	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:113857766C>T	ENST00000504030.2	+	8	1581	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	HTR3A_ENST00000375498.2_Missense_Mutation_p.S385L|HTR3A_ENST00000355556.2_Missense_Mutation_p.S417L|HTR3A_ENST00000506841.2_Missense_Mutation_p.S411L|HTR3A_ENST00000535865.1_Missense_Mutation_p.S123L|HTR3A_ENST00000299961.5_Missense_Mutation_p.S364L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	379					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GATGACTGCTCAGGTGAGAAA	0.577																																							uc010rxb.1		NA																	0					0						c.(1249-1251)TCA>TTA		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						24.0	27.0	26.0					11																	113857766		2197	4292	6489	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857766C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1136C>T	11.37:g.113857766C>T	ENSP00000424189:p.Ser379Leu					HTR3A_uc010rxa.1_Missense_Mutation_p.S385L|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.S364L	p.S417L	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1483	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	379			Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1250C>T		.	.	.	.	.	.	.	.	.	.	C	16.67	3.187543	0.57909	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.85411	-1.98;1.92;-1.98;1.92;-1.98;-1.98	5.5	4.56	0.56223	.	0.757107	0.11921	N	0.516713	T	0.81088	0.4750	L	0.29908	0.895	0.34061	D	0.657343	B;P;B	0.43826	0.298;0.818;0.43	B;B;B	0.43082	0.257;0.407;0.186	T	0.82729	-0.0313	10	0.41790	T	0.15	-0.0699	14.7186	0.69289	0.0:0.8554:0.1446:0.0	.	364;417;385	B4DSY6;G5E986;Q7KZM7	.;.;.	L	379;417;385;411;123;364	ENSP00000424189:S379L;ENSP00000347754:S417L;ENSP00000364648:S385L;ENSP00000424776:S411L;ENSP00000437776:S123L;ENSP00000299961:S364L	ENSP00000299961:S364L	S	+	2	0	HTR3A	113362976	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	2.506000	0.45433	1.398000	0.46701	0.655000	0.94253	TCA		0.577	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		8	21	0	0	0	0.006214	0	8	21				
APOA5	116519	broad.mit.edu	37	11	116661628	116661628	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:116661628C>T	ENST00000227665.4	-	3	351	c.317G>A	c.(316-318)cGc>cAc	p.R106H	APOA5_ENST00000542499.1_Missense_Mutation_p.R106H|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	106					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GGGCTGGAGGCGAGCCTTCAC	0.647																																							uc001ppr.2		NA																	0					0						c.(316-318)CGC>CAC		apolipoprotein AV precursor							49.0	50.0	49.0					11																	116661628		2201	4296	6497	SO:0001583	missense	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661628C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.317G>A	11.37:g.116661628C>T	ENSP00000227665:p.Arg106His					ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.R106H|APOA5_uc009yzf.2_Missense_Mutation_p.R106H|APOA5_uc009yzg.2_Missense_Mutation_p.R132H	p.R106H	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	3	325	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	106			Potential.		B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.317G>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104739	0.77096	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.78246	-1.16;-1.16;-1.16	4.98	4.07	0.47477	Apolipoprotein/apolipophorin (1);	0.109016	0.36665	N	0.002471	T	0.74199	0.3685	M	0.79123	2.44	0.27071	N	0.963315	P;P	0.37731	0.607;0.607	B;B	0.33690	0.168;0.168	T	0.71886	-0.4457	10	0.72032	D	0.01	-16.992	8.9671	0.35883	0.0:0.8261:0.0:0.1739	.	103;106	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	106	ENSP00000227665:R106H;ENSP00000445002:R106H;ENSP00000399701:R106H	ENSP00000227665:R106H	R	-	2	0	APOA5	116166838	0.916000	0.31088	0.988000	0.46212	0.961000	0.63080	2.327000	0.43858	1.321000	0.45227	0.650000	0.86243	CGC		0.647	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			15	17	0	0	0	0.003163	0	15	17				
DSCAML1	57453	broad.mit.edu	37	11	117332278	117332278	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:117332278C>A	ENST00000321322.6	-	18	3481	c.3480G>T	c.(3478-3480)ctG>ctT	p.L1160L	DSCAML1_ENST00000527706.1_Silent_p.L890L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1100	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.L1160L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AAGTGATGGACAGGGCCCGGA	0.607																																							uc001prh.1		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3478-3480)CTG>CTT		Down syndrome cell adhesion molecule like 1							60.0	63.0	62.0					11																	117332278		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117332278C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3480G>T	11.37:g.117332278C>A							p.L1160L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	18	3482	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1100			Fibronectin type-III 3.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.3480G>T	CCDS8384.1																																																																																				0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		26	16	1	0	2.48779e-11	0.005443	3.4834e-11	26	16				
TMPRSS13	84000	broad.mit.edu	37	11	117774772	117774772	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:117774772C>A	ENST00000430170.2	-	11	1513	c.1426G>T	c.(1426-1428)Gac>Tac	p.D476Y	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.D476Y|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.D476Y|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.D441Y	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	476	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D476N(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TTCTTGAAGTCGATGAGATTG	0.527																																							uc001prs.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(1)	1						c.(1426-1428)GAC>TAC		transmembrane protease, serine 13							74.0	83.0	80.0					11																	117774772		2035	4190	6225	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117774772C>A	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1426G>T	11.37:g.117774772C>A	ENSP00000387702:p.Asp476Tyr					TMPRSS13_uc009yzr.1_Missense_Mutation_p.D155Y|TMPRSS13_uc001prt.1_Missense_Mutation_p.D155Y	p.D476Y	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	11	1519	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	471			Extracellular (Potential).|Peptidase S1.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.1426G>T	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098041	0.56183	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.98	4.98	0.66077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.272209	0.31370	N	0.007772	T	0.80686	0.4670	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76071	0.961;0.979;0.987	D	0.83844	0.0259	10	0.87932	D	0	.	11.74	0.51788	0.0:0.9181:0.0:0.0819	.	471;471;476	E9PHM4;Q9BYE2;E9PRA0	.;TMPSD_HUMAN;.	Y	441;471;476;476;476	ENSP00000435813:D441Y;ENSP00000434279:D476Y;ENSP00000387702:D476Y;ENSP00000394114:D476Y	ENSP00000337113:D471Y	D	-	1	0	TMPRSS13	117279982	0.998000	0.40836	0.998000	0.56505	0.755000	0.42902	3.158000	0.50723	2.489000	0.83994	0.551000	0.68910	GAC		0.527	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		3	18	1	0	0.00024832	0.009096	0.000270549	3	18				
KMT2A	4297	broad.mit.edu	37	11	118376564	118376564	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118376564A>T	ENST00000389506.5	+	27	9948	c.9948A>T	c.(9946-9948)acA>acT	p.T3316T	KMT2A_ENST00000534358.1_Silent_p.T3319T|KMT2A_ENST00000354520.4_Silent_p.T3278T			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3316					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)										CGGCAGGCACATCAACAATAA	0.478																																							uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(9946-9948)ACA>ACT		myeloid/lymphoid or mixed-lineage leukemia							99.0	96.0	97.0					11																	118376564		2200	4295	6495	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118376564A>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9948A>T	11.37:g.118376564A>T						MLL_uc001ptb.2_Silent_p.T3319T	p.T3316T	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	9971	+	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)	3316					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.9948A>T	CCDS31686.1																																																																																				0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		40	31	0	0	0	0.00623	0	40	31				
PHLDB1	23187	broad.mit.edu	37	11	118498106	118498106	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118498106G>T	ENST00000361417.2	+	7	978	c.567G>T	c.(565-567)ctG>ctT	p.L189L	PHLDB1_ENST00000356063.5_Silent_p.L189L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	189										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACAGTTCCCTGGTGAGCTCTA	0.562																																							uc001ptr.1		NA																	0					0						c.(565-567)CTG>CTT		pleckstrin homology-like domain, family B,							67.0	61.0	63.0					11																	118498106		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118498106G>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.567G>T	11.37:g.118498106G>T						PHLDB1_uc010ryh.1_Silent_p.L188L|PHLDB1_uc001pts.2_Silent_p.L189L|PHLDB1_uc001ptt.2_Silent_p.L189L|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_5'UTR|PHLDB1_uc001ptw.1_5'Flank	p.L189L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	920	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	189					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.567G>T	CCDS8401.1																																																																																				0.562	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		17	29	1	0	3.41278e-10	0.00499	4.55038e-10	17	29				
DDX6	1656	broad.mit.edu	37	11	118650398	118650398	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118650398T>C	ENST00000526070.2	-	4	672	c.312A>G	c.(310-312)aaA>aaG	p.K104K	DDX6_ENST00000264018.4_Silent_p.K104K|DDX6_ENST00000534980.1_Silent_p.K104K	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	104					cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GTAACTCCCGTTTCAAACAGT	0.343			T	IGH@	B-NHL																																		uc001pub.2		NA		Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				ovary(1)	1						c.(310-312)AAA>AAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 6							79.0	71.0	73.0					11																	118650398		1822	4082	5904	SO:0001819	synonymous_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118650398T>C	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.312A>G	11.37:g.118650398T>C						DDX6_uc001puc.2_Silent_p.K104K	p.K104K	NM_004397	NP_004388	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	4	673	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	104			Q motif.		Q5D048	Silent	SNP	ENST00000526070.2	37	c.312A>G	CCDS44751.1																																																																																				0.343	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		8	6	0	0	0	0.004482	0	8	6				
BCL9L	283149	broad.mit.edu	37	11	118773205	118773205	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118773205T>A	ENST00000334801.3	-	6	2211	c.1247A>T	c.(1246-1248)gAc>gTc	p.D416V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	416	Necessary for interaction with CTNNB1. {ECO:0000250}.|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)			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)		TCGCTCAATGTCTCGCAGCGT	0.682																																							uc001pug.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1246-1248)GAC>GTC		B-cell CLL/lymphoma 9-like							28.0	30.0	29.0					11																	118773205		2199	4294	6493	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.chr11:118773205T>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.1247A>T	11.37:g.118773205T>A	ENSP00000335320:p.Asp416Val					BCL9L_uc009zal.2_Missense_Mutation_p.D411V	p.D416V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2212	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	416			Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1247A>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.736004	0.69189	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.76448	-1.02	4.52	4.52	0.55395	B-cell lymphoma 9, beta-catenin binding domain (1);	0.000000	0.44483	D	0.000445	T	0.80909	0.4714	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83644	0.0152	10	0.87932	D	0	-20.6162	13.9945	0.64388	0.0:0.0:0.0:1.0	.	411;416	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	416;379;416;416	ENSP00000335320:D416V	ENSP00000335320:D416V	D	-	2	0	BCL9L	118278415	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.612000	0.82975	1.915000	0.55452	0.254000	0.18369	GAC		0.682	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		9	11	0	0	0	0.008291	0	9	11				
C2CD2L	9854	broad.mit.edu	37	11	118982044	118982044	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:118982044A>T	ENST00000528586.1	+	2	184	c.114A>T	c.(112-114)ctA>ctT	p.L38L	C2CD2L_ENST00000336702.3_Silent_p.L290L			O14523	C2C2L_HUMAN	C2CD2-like	290						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGTTATTCCTACGGCAGCTTC	0.562																																							uc001pvo.2		NA																	0					0						c.(868-870)CTA>CTT		transmembrane protein 24							122.0	128.0	126.0					11																	118982044		2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118982044A>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.114A>T	11.37:g.118982044A>T						C2CD2L_uc001pvn.2_Silent_p.L290L	p.L290L	NM_014807	NP_055622	O14523	C2C2L_HUMAN			6	1229	+			290					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	37	c.870A>T																																																																																					0.562	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		16	64	0	0	0	0.00499	0	16	64				
TRIM29	23650	broad.mit.edu	37	11	119998114	119998114	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:119998114T>G	ENST00000341846.5	-	3	1485	c.1064A>C	c.(1063-1065)aAg>aCg	p.K355T	TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000541857.1_Missense_Mutation_p.K88T|TRIM29_ENST00000529044.1_Missense_Mutation_p.K94T	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	355					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATGCAGCACCTTGGCTCTCTC	0.562																																							uc001pwz.2		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(1063-1065)AAG>ACG		tripartite motif protein TRIM29							168.0	141.0	150.0					11																	119998114		2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119998114T>G	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1064A>C	11.37:g.119998114T>G	ENSP00000343129:p.Lys355Thr					TRIM29_uc010rzi.1_Missense_Mutation_p.K94T|TRIM29_uc010rzj.1_Missense_Mutation_p.K88T|TRIM29_uc001pxa.2_RNA	p.K355T	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	3	1188	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	355					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.1064A>C	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759514	0.49468	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.39787	1.06	5.14	5.14	0.70334	.	0.233984	0.37219	N	0.002183	T	0.36608	0.0973	N	0.19112	0.55	0.36969	D	0.893738	P;P;P	0.50819	0.939;0.939;0.883	P;P;B	0.48677	0.586;0.586;0.348	T	0.36383	-0.9750	9	.	.	.	.	14.9831	0.71327	0.0:0.0:0.0:1.0	.	88;94;355	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	T	355;88;94	ENSP00000343129:K355T	.	K	-	2	0	TRIM29	119503324	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	3.536000	0.53582	1.954000	0.56735	0.533000	0.62120	AAG		0.562	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		12	59	0	0	0	0.001368	0	12	59				
GRIK4	2900	broad.mit.edu	37	11	120833279	120833279	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:120833279G>T	ENST00000527524.2	+	18	2442	c.2155G>T	c.(2155-2157)Gcc>Tcc	p.A719S	GRIK4_ENST00000438375.2_Missense_Mutation_p.A719S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	719					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)			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)		TTCCAACTACGCCTTCCTCCT	0.537																																							uc001pxn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2155-2157)GCC>TCC		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						95.0	88.0	91.0					11																	120833279		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120833279G>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.2155G>T	11.37:g.120833279G>T	ENSP00000435648:p.Ala719Ser					GRIK4_uc009zav.1_Missense_Mutation_p.A719S|GRIK4_uc009zaw.1_Missense_Mutation_p.A719S|GRIK4_uc009zax.1_Missense_Mutation_p.A719S	p.A719S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	18	2442	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	719			Extracellular (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2155G>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581354	0.96565	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.20200	2.09;2.09	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;1.0	T	0.70637	-0.4817	10	0.87932	D	0	.	19.3996	0.94623	0.0:0.0:1.0:0.0	.	719;719	A6H8K8;Q16099	.;GRIK4_HUMAN	S	719	ENSP00000435648:A719S;ENSP00000404063:A719S	ENSP00000404063:A719S	A	+	1	0	GRIK4	120338489	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.869000	0.99810	2.676000	0.91093	0.655000	0.94253	GCC		0.537	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		28	19	1	0	5.61819e-17	0.005443	9.1432e-17	28	19				
UBASH3B	84959	broad.mit.edu	37	11	122669678	122669678	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:122669678T>A	ENST00000284273.5	+	10	1761	c.1386T>A	c.(1384-1386)atT>atA	p.I462I		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	462	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GCAATACCATTATCGATCATG	0.438																																							uc001pyi.3		NA																	0				central_nervous_system(1)	1						c.(1384-1386)ATT>ATA		ubiquitin associated and SH3 domain containing,							167.0	150.0	156.0					11																	122669678		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122669678T>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1386T>A	11.37:g.122669678T>A							p.I462I	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	10	1746	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	462			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.1386T>A	CCDS31694.1																																																																																				0.438	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		17	15	0	0	0	0.006122	0	17	15				
OR10S1	219873	broad.mit.edu	37	11	123847751	123847751	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:123847751G>T	ENST00000531945.1	-	1	737	c.648C>A	c.(646-648)agC>agA	p.S216R		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;0.0399)		CGATGCCAATGCTGGCAAGCA	0.562																																							uc001pzm.1		NA																	0				ovary(1)|skin(1)	2						c.(646-648)AGC>AGA		olfactory receptor, family 10, subfamily S,							65.0	55.0	58.0					11																	123847751		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847751G>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.648C>A	11.37:g.123847751G>T	ENSP00000431914:p.Ser216Arg						p.S216R	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	648	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	216			Helical; Name=5; (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.648C>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	8.400	0.841714	0.16963	.	.	ENSG00000196248	ENST00000531945	T	0.00115	8.71	4.85	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.149264	0.30565	U	0.009350	T	0.00144	0.0004	L	0.55990	1.75	0.09310	N	1	B	0.21606	0.058	B	0.25614	0.062	T	0.12863	-1.0531	10	0.25751	T	0.34	-11.6234	9.3098	0.37898	0.1654:0.0:0.8346:0.0	.	216	Q8NGN2	O10S1_HUMAN	R	216	ENSP00000431914:S216R	ENSP00000431914:S216R	S	-	3	2	OR10S1	123352961	0.000000	0.05858	0.799000	0.32177	0.380000	0.30137	-0.524000	0.06222	1.274000	0.44362	-0.140000	0.14226	AGC		0.562	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		8	15	1	0	5.18039e-06	0.00308	6.01703e-06	8	15				
OR10G7	390265	broad.mit.edu	37	11	123908878	123908878	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:123908878C>G	ENST00000330487.5	-	1	839	c.831G>C	c.(829-831)acG>acC	p.T277T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		GAGGAGTCAGCGTGGTGTAGA	0.502																																							uc001pzq.1		NA																	0				ovary(2)	2						c.(829-831)ACG>ACC		olfactory receptor, family 10, subfamily G,							101.0	93.0	96.0					11																	123908878		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123908878C>G	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.831G>C	11.37:g.123908878C>G							p.T277T	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	831	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	277			Helical; Name=7; (Potential).		Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.831G>C	CCDS31705.1																																																																																				0.502	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		12	23	0	0	0	0.000978	0	12	23				
OR8D1	283159	broad.mit.edu	37	11	124179963	124179963	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:124179963G>T	ENST00000357821.2	-	1	770	c.700C>A	c.(700-702)Cgg>Agg	p.R234R		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTTTGGACCGGCCCTCTGAG	0.502																																							uc010sag.1		NA																	0				ovary(2)|skin(1)	3						c.(700-702)CGG>AGG		olfactory receptor, family 8, subfamily D,							71.0	61.0	65.0					11																	124179963		2201	4299	6500	SO:0001819	synonymous_variant	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179963G>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.700C>A	11.37:g.124179963G>T							p.R234R	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	700	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	234			Cytoplasmic (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	c.700C>A	CCDS31706.1																																																																																				0.502	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		20	14	1	0	5.35267e-07	0.007413	6.40521e-07	20	14				
FEZ1	9638	broad.mit.edu	37	11	125325984	125325984	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:125325984C>A	ENST00000278919.3	-	6	920	c.686G>T	c.(685-687)gGg>gTg	p.G229V	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	229					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CAGCTCAGACCCAGACATGTG	0.657																																					Melanoma(180;509 2033 10762 15939 24711)	Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(685-687)GGG>GTG		zygin 1 isoform 1							45.0	46.0	46.0					11																	125325984		2201	4299	6500	SO:0001583	missense	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125325984C>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.686G>T	11.37:g.125325984C>A	ENSP00000278919:p.Gly229Val					FEZ1_uc001qbw.2_Missense_Mutation_p.G19V|FEZ1_uc010sbc.1_Missense_Mutation_p.G200V	p.G229V	NM_005103	NP_005094	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	6	838	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	229					O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	c.686G>T	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	0.564	-0.843858	0.02671	.	.	ENSG00000149557	ENST00000278919	T	0.26518	1.73	5.54	4.63	0.57726	.	0.091737	0.85682	D	0.000000	T	0.09774	0.0240	N	0.03154	-0.405	0.50313	D	0.999866	B;B	0.30068	0.267;0.008	B;B	0.31390	0.129;0.016	T	0.14727	-1.0462	10	0.02654	T	1	-20.8354	10.1354	0.42704	0.0:0.7458:0.1772:0.077	.	200;229	B4DKG5;Q99689	.;FEZ1_HUMAN	V	229	ENSP00000278919:G229V	ENSP00000278919:G229V	G	-	2	0	FEZ1	124831194	0.017000	0.18338	0.192000	0.23308	0.781000	0.44180	0.894000	0.28350	1.345000	0.45676	-0.136000	0.14681	GGG		0.657	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		11	8	1	0	3.86212e-05	0.008291	4.31346e-05	11	8				
SPATA19	219938	broad.mit.edu	37	11	133715043	133715043	+	Missense_Mutation	SNP	G	G	T	rs573134272		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:133715043G>T	ENST00000299140.3	-	2	175	c.121C>A	c.(121-123)Cat>Aat	p.H41N	SPATA19_ENST00000532889.1_Missense_Mutation_p.H41N	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	41					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		TTCAACCAATGATGTAGTACA	0.433																																							uc001qgv.1		NA																	0					0						c.(121-123)CAT>AAT		spermatogenesis associated 19 precursor							170.0	159.0	163.0					11																	133715043		2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133715043G>T	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.121C>A	11.37:g.133715043G>T	ENSP00000299140:p.His41Asn						p.H41N	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	2	172	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	41					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.121C>A	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936243	0.52972	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.55588	0.51;0.51	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000012	T	0.62048	0.2396	L	0.34521	1.04	0.37708	D	0.924456	D	0.67145	0.996	D	0.73708	0.981	T	0.68610	-0.5363	10	0.87932	D	0	-8.5173	14.4907	0.67649	0.0:0.0:1.0:0.0	.	41	Q7Z5L4	SPT19_HUMAN	N	41	ENSP00000299140:H41N;ENSP00000435248:H41N	ENSP00000299140:H41N	H	-	1	0	SPATA19	133220253	1.000000	0.71417	0.902000	0.35471	0.941000	0.58515	4.712000	0.61888	2.500000	0.84329	0.563000	0.77884	CAT		0.433	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		14	16	1	0	4.75885e-15	0.00499	7.31025e-15	14	16				
IQSEC3	440073	broad.mit.edu	37	12	247619	247619	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:247619C>A	ENST00000538872.1	+	4	1208	c.1090C>A	c.(1090-1092)Ctg>Atg	p.L364M	IQSEC3_ENST00000382841.2_Missense_Mutation_p.L61M|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.L364M|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	364					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGCCGAGAGCCTGGCGGCCGA	0.687																																							uc001qhw.1		NA																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(181-183)CTG>ATG		IQ motif and Sec7 domain 3							17.0	18.0	18.0					12																	247619		2197	4297	6494	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247619C>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1090C>A	12.37:g.247619C>A	ENSP00000437554:p.Leu364Met					IQSEC3_uc001qhu.1_Missense_Mutation_p.L61M|IQSEC3_uc001qht.1_Missense_Mutation_p.L146M|uc001qhv.1_Splice_Site	p.L61M	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	187	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		364					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.181C>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150167	0.37923	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.77358	-1.09;-1.09;-1.09	5.04	1.72	0.24424	.	0.580611	0.19147	N	0.121554	T	0.74351	0.3705	L	0.56769	1.78	0.23607	N	0.997307	P;D	0.53151	0.855;0.958	B;P	0.48141	0.365;0.568	T	0.63497	-0.6624	10	0.30078	T	0.28	.	8.6265	0.33892	0.0:0.6129:0.0:0.3871	.	364;61	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	M	364;364;61	ENSP00000437554:L364M;ENSP00000315662:L364M;ENSP00000372292:L61M	ENSP00000315662:L364M	L	+	1	2	IQSEC3	117880	1.000000	0.71417	0.998000	0.56505	0.229000	0.25112	2.247000	0.43151	0.534000	0.28695	0.462000	0.41574	CTG		0.687	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		3	9	1	0	0.004672	0.004672	0.00490267	3	9				
TEAD4	7004	broad.mit.edu	37	12	3104151	3104151	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:3104151G>T	ENST00000359864.2	+	3	409	c.219G>T	c.(217-219)aaG>aaT	p.K73N	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.K73N	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	73					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ACGAGGGCAAGATGTATGGTA	0.627																																							uc010sej.1		NA																	0					0						c.(214-216)AAG>AAT		TEA domain family member 4 isoform 1							69.0	75.0	73.0					12																	3104151		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3104151G>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.219G>T	12.37:g.3104151G>T	ENSP00000352926:p.Lys73Asn					TEAD4_uc010sek.1_Missense_Mutation_p.K72N|TEAD4_uc001qln.2_Intron	p.K72N	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		3	493	+	Ovarian(42;0.211)		73			TEA.		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000359864.2	37	c.216G>T	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558845	0.86231	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.40756	1.02;1.02;1.02	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	H	0.94423	3.535	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.79145	-0.1924	10	0.87932	D	0	-31.0626	11.5486	0.50708	0.081:0.0:0.919:0.0	.	73	Q15561	TEAD4_HUMAN	N	73	ENSP00000351184:K73N;ENSP00000352926:K73N;ENSP00000444528:K73N	ENSP00000351184:K73N	K	+	3	2	TEAD4	2974412	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.001000	0.63946	2.513000	0.84729	0.650000	0.86243	AAG		0.627	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1	NM_003213		50	5	1	0	1.89013e-27	0.00361	3.65202e-27	50	5				
VWF	7450	broad.mit.edu	37	12	6219732	6219732	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:6219732C>G	ENST00000261405.5	-	5	594	c.340G>C	c.(340-342)Gcc>Ccc	p.A114P	VWF_ENST00000572068.1_Missense_Mutation_p.A151P	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	114	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTTTGGAGGCATAGGGCATG	0.532																																							uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(340-342)GCC>CCC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						76.0	80.0	78.0					12																	6219732		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6219732C>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.340G>C	12.37:g.6219732C>G	ENSP00000261405:p.Ala114Pro					VWF_uc010set.1_Missense_Mutation_p.A114P|VWF_uc001qno.1_Missense_Mutation_p.A151P	p.A114P	NM_000552	NP_000543	P04275	VWF_HUMAN			5	590	-			114			VWFD 1.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.340G>C	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	19.43	3.825947	0.71143	.	.	ENSG00000110799	ENST00000261405	T	0.59906	0.23	5.9	5.01	0.66863	von Willebrand factor, type D domain (3);	0.000000	0.42821	D	0.000648	T	0.73016	0.3533	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.76033	-0.3107	10	0.72032	D	0.01	.	14.3255	0.66518	0.0:0.9291:0.0:0.0709	.	114;151;114	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	P	114	ENSP00000261405:A114P	ENSP00000261405:A114P	A	-	1	0	VWF	6089993	1.000000	0.71417	0.997000	0.53966	0.745000	0.42441	4.716000	0.61916	1.512000	0.48834	0.655000	0.94253	GCC		0.532	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		24	35	0	0	0	0.00278	0	24	35				
USP5	8078	broad.mit.edu	37	12	6970680	6970680	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:6970680G>T	ENST00000229268.8	+	13	1624	c.1572G>T	c.(1570-1572)cgG>cgT	p.R524R	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Silent_p.R524R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	524	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AACTGGTTCGGGCCCAGGTGC	0.607																																							uc001qri.3		NA																	0				lung(2)|breast(1)|skin(1)	4						c.(1570-1572)CGG>CGT		ubiquitin specific peptidase 5 isoform 1							67.0	67.0	67.0					12																	6970680		2203	4300	6503	SO:0001819	synonymous_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970680G>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1572G>T	12.37:g.6970680G>T						USP5_uc001qrh.3_Silent_p.R524R	p.R524R	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			13	1631	+			524					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.1572G>T	CCDS41743.1																																																																																				0.607	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			54	8	1	0	4.17328e-34	0.00361	8.47754e-34	54	8				
A2M	2	broad.mit.edu	37	12	9265129	9265129	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:9265129G>T	ENST00000318602.7	-	3	581	c.274C>A	c.(274-276)Cca>Aca	p.P92T		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	92					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)			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)	GAAGACTTTGGGACCTGAAAT	0.488																																							uc001qvk.1		NA																	0				central_nervous_system(4)|skin(1)	5						c.(274-276)CCA>ACA		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						71.0	66.0	67.0					12																	9265129		1928	4117	6045	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.chr12:9265129G>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.274C>A	12.37:g.9265129G>T	ENSP00000323929:p.Pro92Thr					A2M_uc009zgk.1_Intron	p.P92T	NM_000014	NP_000005	P01023	A2MG_HUMAN			3	387	-			92					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.274C>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372623	0.42003	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.07114	3.22;3.22	5.77	5.77	0.91146	.	0.173192	0.40222	N	0.001156	T	0.33847	0.0877	M	0.88775	2.98	0.36448	D	0.865934	D	0.64830	0.994	D	0.65140	0.932	T	0.45571	-0.9252	10	0.87932	D	0	.	15.4982	0.75673	0.0:0.0:1.0:0.0	.	92	P01023	A2MG_HUMAN	T	92;107;92	ENSP00000323929:P92T;ENSP00000385710:P92T	ENSP00000323929:P92T	P	-	1	0	A2M	9156396	1.000000	0.71417	0.220000	0.23810	0.005000	0.04900	5.230000	0.65321	2.729000	0.93468	0.655000	0.94253	CCA		0.488	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		12	1	1	0	5.50884e-06	0.001368	6.34675e-06	12	1				
PRB1	5542	broad.mit.edu	37	12	11506399	11506399	+	Intron	SNP	T	T	C	rs111543911	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:11506399T>C	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				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)			TGGAGGAGATTGGGAACTTCG	0.612													N|||	1192	0.238019	0.1808	0.1816	5008	,	,		11447	0.3393		0.1759	False		,,,				2504	0.3149						uc001qzw.1		NA																	0					0						c.(637-639)CAA>CGA		proline-rich protein BstNI subfamily 1 isoform 1							11.0	7.0	9.0					12																	11506399		1009	1967	2976	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506399T>C		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.314-75A>G	12.37:g.11506399T>C						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.Q213R	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	675	-			274	Q -> R (in Ref. 5; CAA30395).	Missing (in clone CP-4).|Missing (in clone CP-5).	11.|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.638A>G	CCDS8642.1																																																																																				0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		5	11	0	0	0	0.000978	0	5	11				
PIK3C2G	5288	broad.mit.edu	37	12	18641550	18641550	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:18641550A>T	ENST00000266497.5	+	17	2587	c.2549A>T	c.(2548-2550)gAc>gTc	p.D850V	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.D850V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D891V			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	850					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTGCCAGTGACCATCAAAGA	0.338																																							uc001rdt.2		NA																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(2548-2550)GAC>GTC		phosphoinositide-3-kinase, class 2 gamma							58.0	57.0	57.0					12																	18641550		1820	4083	5903	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18641550A>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2549A>T	12.37:g.18641550A>T	ENSP00000266497:p.Asp850Val					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.D891V|PIK3C2G_uc010sic.1_Missense_Mutation_p.D669V	p.D850V	NM_004570	NP_004561	O75747	P3C2G_HUMAN			18	2665	+		Hepatocellular(102;0.194)	850					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2549A>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084895	0.55861	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.82803	-1.65;-1.65;-1.65	4.34	4.34	0.51931	Protein kinase-like domain (1);	0.259165	0.38326	N	0.001733	D	0.83445	0.5256	L	0.53249	1.67	0.58432	D	0.999999	D;D;D	0.56521	0.96;0.976;0.96	P;P;P	0.54100	0.556;0.742;0.556	D	0.83518	0.0084	10	0.52906	T	0.07	-13.4892	8.4283	0.32742	0.9116:0.0:0.0884:0.0	.	890;891;850	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	V	850;850;891	ENSP00000404845:D850V;ENSP00000266497:D850V;ENSP00000445381:D891V	ENSP00000266497:D850V	D	+	2	0	PIK3C2G	18532817	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.705000	0.61838	2.198000	0.70561	0.529000	0.55759	GAC		0.338	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		6	3	0	0	0	0.001168	0	6	3				
PDE3A	5139	broad.mit.edu	37	12	20807033	20807033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:20807033G>A	ENST00000359062.3	+	15	3118	c.3078G>A	c.(3076-3078)tgG>tgA	p.W1026*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1026	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)			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)	CTGGAAAATGGGTGGAAGACA	0.483																																							uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(3076-3078)TGG>TGA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						126.0	121.0	123.0					12																	20807033		2203	4300	6503	SO:0001587	stop_gained	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.chr12:20807033G>A		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.3078G>A	12.37:g.20807033G>A	ENSP00000351957:p.Trp1026*						p.W1026*	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			15	3100	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1026			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	ENST00000359062.3	37	c.3078G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	41	9.161055	0.99085	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.31	5.31	0.75309	.	1.110990	0.06354	N	0.710501	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	19.3412	0.94342	0.0:0.0:1.0:0.0	.	.	.	.	X	1026	.	ENSP00000351957:W1026X	W	+	3	0	PDE3A	20698300	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.478000	0.81082	2.657000	0.90304	0.655000	0.94253	TGG		0.483	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			15	10	0	0	0	0.004007	0	15	10				
GYS2	2998	broad.mit.edu	37	12	21689983	21689983	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:21689983C>T	ENST00000261195.2	-	16	2271	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	673					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTTCAGCCTCCTCTTCCTCA	0.468																																					Colon(149;9 1820 3690 10544 50424)	Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NA																	0				lung(1)|skin(1)	2						c.(2017-2019)GAG>AAG		glycogen synthase 2							228.0	159.0	183.0					12																	21689983		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21689983C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.2017G>A	12.37:g.21689983C>T	ENSP00000261195:p.Glu673Lys						p.E673K	NM_021957	NP_068776	P54840	GYS2_HUMAN			16	2272	-			673					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.2017G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245160	0.95272	.	.	ENSG00000111713	ENST00000261195	T	0.64438	-0.1	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.68116	-0.5494	10	0.39692	T	0.17	-30.4016	18.343	0.90312	0.0:1.0:0.0:0.0	.	673	P54840	GYS2_HUMAN	K	673	ENSP00000261195:E673K	ENSP00000261195:E673K	E	-	1	0	GYS2	21581250	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.487000	0.81328	2.539000	0.85634	0.655000	0.94253	GAG		0.468	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		13	7	0	0	0	0.001368	0	13	7				
BCAT1	586	broad.mit.edu	37	12	25047340	25047341	+	Nonsense_Mutation	DNP	CA	CA	AG			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:25047340_25047341CA>AG	ENST00000261192.7	-	3	673_674	c.147_148TG>CT	c.(145-150)ttTGga>ttCTga	p.G50*	BCAT1_ENST00000342945.5_Nonsense_Mutation_p.G26*|BCAT1_ENST00000539282.1_Nonsense_Mutation_p.G62*|BCAT1_ENST00000539780.1_Nonsense_Mutation_p.G50*|BCAT1_ENST00000538118.1_Nonsense_Mutation_p.G49*|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	50					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	AACACAGTTCCAAAAACCAGAT	0.436																																							uc001rgd.3		NA																	0				lung(1)|breast(1)	2						c.(145-150)TTTGGA>TTCTGA		branched chain aminotransferase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)																																			SO:0001587	stop_gained	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25047340_25047341CA>AG		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.147_148delinsAG	12.37:g.25047340_25047341delinsAG	ENSP00000261192:p.Gly50*					BCAT1_uc001rgc.2_Nonsense_Mutation_p.G49*|BCAT1_uc010six.1_Nonsense_Mutation_p.G62*|BCAT1_uc010siy.1_Nonsense_Mutation_p.G50*|BCAT1_uc001rge.3_Nonsense_Mutation_p.G26*	p.G50*	NM_005504	NP_005495	P54687	BCAT1_HUMAN			3	589_590	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		50					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Nonsense_Mutation	DNP	ENST00000261192.7	37	c.147_148TG>CT	CCDS44845.1																																																																																				0.436	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		6	3	0	0	0	0.004672	0	6	3				
ALG10	84920	broad.mit.edu	37	12	34179644	34179644	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:34179644G>T	ENST00000266483.2	+	3	1535	c.1216G>T	c.(1216-1218)Gtt>Ttt	p.V406F	AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	406					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTGTTCACTGTTATAGTTCC	0.353																																							uc001rlm.2		NA																	0				skin(1)	1						c.(1216-1218)GTT>TTT		asparagine-linked glycosylation 10 homolog							175.0	177.0	176.0					12																	34179644		2203	4300	6503	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34179644G>T	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1216G>T	12.37:g.34179644G>T	ENSP00000266483:p.Val406Phe						p.V406F	NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN			3	1535	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	406			Helical; (Potential).		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.1216G>T	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	9.616	1.132506	0.21041	.	.	ENSG00000139133	ENST00000266483	T	0.58358	0.34	3.19	2.14	0.27477	.	0.338322	0.31461	N	0.007606	T	0.51517	0.1679	M	0.73962	2.25	0.43099	D	0.99478	P	0.44281	0.831	P	0.44696	0.458	T	0.46176	-0.9210	10	0.20519	T	0.43	.	8.7538	0.34633	0.0:0.0:0.6886:0.3114	.	406	Q5BKT4	AG10A_HUMAN	F	406	ENSP00000266483:V406F	ENSP00000266483:V406F	V	+	1	0	ALG10	34070911	1.000000	0.71417	0.032000	0.17829	0.141000	0.21300	5.113000	0.64640	0.262000	0.21774	0.184000	0.17185	GTT		0.353	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		43	17	1	0	2.2871e-25	0.007835	4.29094e-25	43	17				
KIF21A	55605	broad.mit.edu	37	12	39751058	39751058	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:39751058G>A	ENST00000361418.5	-	9	1412	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	KIF21A_ENST00000361961.3_Missense_Mutation_p.A466V|KIF21A_ENST00000395670.3_Missense_Mutation_p.A466V|KIF21A_ENST00000541463.2_Missense_Mutation_p.A466V|KIF21A_ENST00000544797.2_Missense_Mutation_p.A466V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	466					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)			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)				ACCTGCTCTGGCAAGAACATG	0.438																																							uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(1396-1398)GCC>GTC		kinesin family member 21A							137.0	133.0	134.0					12																	39751058		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39751058G>A	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.1397C>T	12.37:g.39751058G>A	ENSP00000354878:p.Ala466Val					KIF21A_uc001rlx.2_Missense_Mutation_p.A466V|KIF21A_uc001rlz.2_Missense_Mutation_p.A466V|KIF21A_uc010skl.1_Missense_Mutation_p.A466V|KIF21A_uc001rma.1_Missense_Mutation_p.A474V	p.A466V	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			9	1543	-		Lung NSC(34;0.179)|all_lung(34;0.213)	466			Potential.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.1397C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869100	0.72065	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;D	0.82893	-0.56;-0.5;-0.56;-0.43;-0.5;-1.66	4.55	3.66	0.41972	.	0.122893	0.36268	N	0.002692	D	0.87038	0.6078	L	0.52364	1.645	0.44447	D	0.997378	B;D;D;P;B	0.69078	0.202;0.997;0.981;0.757;0.057	B;D;P;B;B	0.70716	0.138;0.97;0.801;0.293;0.113	D	0.85889	0.1427	10	0.41790	T	0.15	.	12.8902	0.58068	0.0798:0.0:0.9202:0.0	.	466;466;466;466;466	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	V	466;466;466;466;466;466;289	ENSP00000354851:A466V;ENSP00000379029:A466V;ENSP00000445606:A466V;ENSP00000354878:A466V;ENSP00000438075:A466V;ENSP00000449700:A289V	ENSP00000344501:A466V	A	-	2	0	KIF21A	38037325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.396000	0.73234	1.037000	0.40024	0.655000	0.94253	GCC		0.438	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		32	11	0	0	0	0.003755	0	32	11				
NELL2	4753	broad.mit.edu	37	12	44913928	44913928	+	Missense_Mutation	SNP	G	G	T	rs147794047		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:44913928G>T	ENST00000429094.2	-	19	2764	c.2260C>A	c.(2260-2262)Cgc>Agc	p.R754S	NELL2_ENST00000437801.2_Missense_Mutation_p.R804S|NELL2_ENST00000551601.1_Missense_Mutation_p.R706S|NELL2_ENST00000452445.2_Missense_Mutation_p.R754S|NELL2_ENST00000395487.2_Missense_Mutation_p.R753S|NELL2_ENST00000549027.1_Missense_Mutation_p.R753S|NELL2_ENST00000333837.4_Missense_Mutation_p.R777S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	754	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTGACACAGCGCGGGCAGCAC	0.542																																							uc001rog.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(2260-2262)CGC>AGC		NEL-like protein 2 isoform b precursor							95.0	78.0	84.0					12																	44913928		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913928G>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2260C>A	12.37:g.44913928G>T	ENSP00000390680:p.Arg754Ser					NELL2_uc001rof.3_Missense_Mutation_p.R753S|NELL2_uc001roh.2_Missense_Mutation_p.R754S|NELL2_uc009zkd.2_Missense_Mutation_p.R706S|NELL2_uc010skz.1_Missense_Mutation_p.R804S|NELL2_uc010sla.1_Missense_Mutation_p.R777S	p.R754S	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2855	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	754			VWFC 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.2260C>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261896	0.80358	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.21	4.32	0.51571	von Willebrand factor, type C (4);	0.111907	0.64402	D	0.000007	T	0.78168	0.4241	L	0.53671	1.685	0.58432	D	0.999991	P;D;P;P;D	0.63046	0.546;0.992;0.841;0.868;0.985	B;D;P;P;D	0.66497	0.304;0.944;0.524;0.536;0.91	T	0.75291	-0.3369	10	0.27785	T	0.31	-10.7978	13.7063	0.62641	0.0744:0.0:0.9256:0.0	.	777;804;706;754;753	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	S	753;754;706;754;753;777;804	ENSP00000378866:R753S;ENSP00000390680:R754S;ENSP00000449332:R706S;ENSP00000394612:R754S;ENSP00000447927:R753S;ENSP00000327988:R777S;ENSP00000416341:R804S	ENSP00000327988:R777S	R	-	1	0	NELL2	43200195	1.000000	0.71417	0.818000	0.32626	0.895000	0.52256	9.864000	0.99589	1.188000	0.43014	-0.142000	0.14014	CGC		0.542	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		14	7	1	0	4.36969e-10	0.001855	5.78294e-10	14	7				
RAPGEF3	10411	broad.mit.edu	37	12	48145203	48145203	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:48145203C>A	ENST00000449771.2	-	5	569	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D161Y|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.D119Y|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D119Y|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.D119Y|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.D161Y|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D119Y			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	161	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCACCTTCATCCAGCAGCACC	0.672																																							uc009zkp.2		NA																	0				lung(2)|skin(1)|pancreas(1)	4						c.(355-357)GAT>TAT		Rap guanine nucleotide exchange factor 3 isoform							44.0	42.0	43.0					12																	48145203		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48145203C>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.481G>T	12.37:g.48145203C>A	ENSP00000395708:p.Asp161Tyr					RAPGEF3_uc009zkq.2_Missense_Mutation_p.D119Y|RAPGEF3_uc001rpz.3_Missense_Mutation_p.D161Y|RAPGEF3_uc009zkr.2_Intron|RAPGEF3_uc009zks.2_Missense_Mutation_p.D173Y|RAPGEF3_uc001rqb.3_Missense_Mutation_p.D161Y	p.D119Y	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	4	795	-	Lung SC(27;0.192)		119					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.355G>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419425	0.83559	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358;ENST00000466322;ENST00000495953	T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.34	4.43	0.53597	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.74674	0.936;0.972;0.984	T	0.54563	-0.8275	10	0.87932	D	0	.	13.8175	0.63301	0.0:0.9206:0.0:0.0794	.	173;161;161	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	Y	119;161;119;119;119;161;173;119;161;119;119	ENSP00000384521:D119Y;ENSP00000395708:D161Y;ENSP00000448619:D119Y;ENSP00000171000:D119Y;ENSP00000373864:D161Y;ENSP00000448480:D119Y;ENSP00000378764:D161Y;ENSP00000446731:D119Y;ENSP00000448804:D119Y	ENSP00000171000:D119Y	D	-	1	0	RAPGEF3	46431470	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.511000	0.67024	2.666000	0.90696	0.561000	0.74099	GAT		0.672	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		14	3	1	0	4.14922e-12	0.004007	5.92033e-12	14	3				
TUBA1B	10376	broad.mit.edu	37	12	49521984	49521984	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:49521984T>C	ENST00000336023.5	-	4	1207	c.1113A>G	c.(1111-1113)gtA>gtG	p.V371V	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	371					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CAGCTCTCTGTACCTTGGCCA	0.577																																							uc001rtm.2		NA																	0					0						c.(1111-1113)GTA>GTG		tubulin, alpha, ubiquitous							28.0	28.0	28.0					12																	49521984		2202	4278	6480	SO:0001819	synonymous_variant	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49521984T>C	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1113A>G	12.37:g.49521984T>C						TUBA1B_uc001rto.2_Silent_p.V336V|TUBA1B_uc001rtk.2_Silent_p.V336V|TUBA1B_uc001rtl.2_Silent_p.V336V|TUBA1B_uc001rtn.2_Silent_p.V218V|uc010smg.1_5'UTR	p.V371V	NM_006082	NP_006073	P68363	TBA1B_HUMAN			4	1334	-			371					P04687|P05209|Q27I68|Q8WU19	Silent	SNP	ENST00000336023.5	37	c.1113A>G	CCDS31792.1																																																																																				0.577	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		22	7	0	0	0	0.005443	0	22	7				
GALNT6	11226	broad.mit.edu	37	12	51752990	51752990	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:51752990C>A	ENST00000543196.2	-	7	1499	c.1294G>T	c.(1294-1296)Gca>Tca	p.A432S	GALNT6_ENST00000356317.3_Missense_Mutation_p.A432S			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	432					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CAGACCTCTGCCAGGCGCACT	0.542																																							uc001ryk.2		NA																	0				ovary(2)	2						c.(1294-1296)GCA>TCA		polypeptide N-acetylgalactosaminyltransferase 6							167.0	175.0	173.0					12																	51752990		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51752990C>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1294G>T	12.37:g.51752990C>A	ENSP00000444171:p.Ala432Ser					GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.A432S|GALNT6_uc001ryj.1_5'UTR	p.A432S	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			7	1519	-			432			Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1294G>T	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051644	0.93793	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.71698	-0.59;-0.59	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.87884	0.6290	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90999	0.4841	10	0.87932	D	0	.	16.6531	0.85222	0.0:1.0:0.0:0.0	.	432	Q8NCL4	GALT6_HUMAN	S	432;432;413	ENSP00000444171:A432S;ENSP00000348668:A432S	ENSP00000348668:A432S	A	-	1	0	GALNT6	50039257	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.609000	0.82925	2.661000	0.90470	0.561000	0.74099	GCA		0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		108	28	1	0	3.79737e-34	0.00361	7.72494e-34	108	28				
TBK1	29110	broad.mit.edu	37	12	64860683	64860683	+	Missense_Mutation	SNP	G	G	T	rs562577505		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:64860683G>T	ENST00000331710.5	+	5	700	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|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)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGTTGAAGTGGGTGGAATGAA	0.358																																							uc001ssc.1		NA																	0				central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5						c.(361-363)GGT>TGT		TANK-binding kinase 1							169.0	153.0	159.0					12																	64860683		2203	4300	6503	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64860683G>T	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.361G>T	12.37:g.64860683G>T	ENSP00000329967:p.Gly121Cys						p.G121C	NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	5	423	+			121			Protein kinase.		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.361G>T	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320981	0.81580	.	.	ENSG00000183735	ENST00000331710	T	0.65364	-0.15	5.16	5.16	0.70880	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052158	0.85682	D	0.000000	T	0.56790	0.2009	N	0.10760	0.04	0.58432	D	0.999994	D	0.54047	0.964	P	0.55112	0.769	T	0.58261	-0.7667	9	.	.	.	-9.1839	19.0325	0.92963	0.0:0.0:1.0:0.0	.	121	Q9UHD2	TBK1_HUMAN	C	121	ENSP00000329967:G121C	.	G	+	1	0	TBK1	63146950	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	6.495000	0.73665	2.583000	0.87209	0.591000	0.81541	GGT		0.358	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		28	8	1	0	7.01153e-11	0.007291	9.60041e-11	28	8				
CAND1	55832	broad.mit.edu	37	12	67699358	67699358	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:67699358G>T	ENST00000545606.1	+	10	2347	c.1910G>T	c.(1909-1911)gGg>gTg	p.G637V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	637					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CTGATTGCTGGGTCACCTTTG	0.408																																							uc001stn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1909-1911)GGG>GTG		TIP120 protein							105.0	109.0	107.0					12																	67699358		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699358G>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1910G>T	12.37:g.67699358G>T	ENSP00000442318:p.Gly637Val					CAND1_uc001sto.2_Missense_Mutation_p.G147V	p.G637V	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2347	+			637			HEAT 14.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.1910G>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	9.996	1.232119	0.22626	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.47177	0.85;0.85	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	N	0.17764	0.52	0.80722	D	1	P;B	0.42039	0.769;0.009	B;B	0.31946	0.138;0.01	T	0.08806	-1.0704	9	.	.	.	-9.0337	20.115	0.97926	0.0:0.0:1.0:0.0	.	469;637	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	637;637;177	ENSP00000442318:G637V;ENSP00000444089:G177V	.	G	+	2	0	CAND1	65985625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.793000	0.99091	2.761000	0.94854	0.650000	0.86243	GGG		0.408	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		57	8	1	0	2.93687e-30	0.00361	5.80043e-30	57	8				
RAB3IP	117177	broad.mit.edu	37	12	70195437	70195437	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:70195437G>A	ENST00000247833.7	+	8	1442	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	RAB3IP_ENST00000551641.1_Missense_Mutation_p.E150K|RAB3IP_ENST00000550536.1_Missense_Mutation_p.E372K|RAB3IP_ENST00000550847.1_Missense_Mutation_p.E63K|RAB3IP_ENST00000553099.1_Missense_Mutation_p.E150K|RAB3IP_ENST00000483530.2_Missense_Mutation_p.E356K|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E372K|AC025263.3_ENST00000550437.1_5'Flank|RAB3IP_ENST00000325555.9_Missense_Mutation_p.E150K					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTAAGCATTGAACCAGTGGG	0.398																																							uc001svp.2		NA																	0				ovary(1)	1						c.(1114-1116)GAA>AAA		RAB3A interacting protein isoform alpha 2							108.0	101.0	103.0					12																	70195437		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70195437G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1066G>A	12.37:g.70195437G>A	ENSP00000247833:p.Glu356Lys					RAB3IP_uc001svm.2_Missense_Mutation_p.E356K|RAB3IP_uc001svn.2_Missense_Mutation_p.E356K|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Missense_Mutation_p.E372K|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Missense_Mutation_p.E150K	p.E372K	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		8	1561	+	Esophageal squamous(21;0.187)		372						Missense_Mutation	SNP	ENST00000247833.7	37	c.1114G>A	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523883	0.85600	.	.	ENSG00000127328	ENST00000247833;ENST00000483530;ENST00000325555;ENST00000550536;ENST00000362025;ENST00000551641;ENST00000553099;ENST00000550847	T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.51	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	M	0.88105	2.93	0.80722	D	1	D;P;D	0.76494	0.999;0.489;0.998	D;B;D	0.71656	0.974;0.21;0.974	T	0.78831	-0.2049	10	0.87932	D	0	.	14.3108	0.66415	0.0714:0.0:0.9286:0.0	.	372;372;356	Q96QF0-4;Q96QF0;Q96QF0-3	.;RAB3I_HUMAN;.	K	356;356;150;372;372;150;150;63	ENSP00000247833:E356K;ENSP00000419216:E356K;ENSP00000323349:E150K;ENSP00000447300:E372K;ENSP00000355381:E372K;ENSP00000448773:E150K;ENSP00000448027:E150K;ENSP00000448102:E63K	ENSP00000247833:E356K	E	+	1	0	RAB3IP	68481704	1.000000	0.71417	0.997000	0.53966	0.773000	0.43773	9.352000	0.97076	1.318000	0.45170	0.591000	0.81541	GAA		0.398	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		19	6	0	0	0	0.001882	0	19	6				
E2F7	144455	broad.mit.edu	37	12	77444526	77444526	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:77444526T>A	ENST00000322886.7	-	4	605		c.e4-2		E2F7_ENST00000416496.2_Splice_Site	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7						chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AACATCAAGCTACAGAGGGCA	0.473																																							uc001sym.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.e4-1		E2F transcription factor 7							82.0	78.0	79.0					12																	77444526		2203	4300	6503	SO:0001630	splice_region_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77444526T>A	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.370-2A>T	12.37:g.77444526T>A						E2F7_uc001syn.2_Splice_Site_p.L124_splice	p.L124_splice	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			4	606	-								A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Splice_Site	SNP	ENST00000322886.7	37	c.370_splice	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.32|17.32	3.358681|3.358681	0.61403|0.61403	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669|ENST00000551058	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71796	.|0.3382	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70835	.|-0.4764	.|4	.|.	.|.	.|.	.|.	15.4071|15.4071	0.74887|0.74887	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|C	-1|1	.|.	.|.	.|S	-|-	.|1	.|0	E2F7|E2F7	75968657|75968657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.440000|4.440000	0.59975|0.59975	2.230000|2.230000	0.72887|0.72887	0.528000|0.528000	0.53228|0.53228	.|AGC		0.473	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	Intron	19	4	0	0	0	0.007413	0	19	4				
MYF5	4617	broad.mit.edu	37	12	81111175	81111175	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:81111175G>T	ENST00000228644.3	+	1	485	c.333G>T	c.(331-333)acG>acT	p.T111T		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	111	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGTGTACCACGACCAACCCCA	0.592																																							uc001szg.2		NA																	0				ovary(1)	1						c.(331-333)ACG>ACT		myogenic factor 5							76.0	71.0	73.0					12																	81111175		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111175G>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.333G>T	12.37:g.81111175G>T							p.T111T	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	468	+			111			Helix-loop-helix motif.		Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.333G>T	CCDS9020.1																																																																																				0.592	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		33	13	1	0	2.08457e-15	0.002096	3.2371e-15	33	13				
TMTC2	160335	broad.mit.edu	37	12	83251126	83251126	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:83251126G>T	ENST00000321196.3	+	2	1128	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	TMTC2_ENST00000548305.1_Missense_Mutation_p.D141Y|TMTC2_ENST00000549919.1_Missense_Mutation_p.D135Y	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	141					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGACGAGCCGATGTCGGGGC	0.542																																							uc001szt.2		NA																	0				ovary(2)	2						c.(421-423)GAT>TAT		transmembrane and tetratricopeptide repeat							108.0	92.0	97.0					12																	83251126		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251126G>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.421G>T	12.37:g.83251126G>T	ENSP00000322300:p.Asp141Tyr					TMTC2_uc001szr.1_Missense_Mutation_p.D141Y|TMTC2_uc001szs.1_Missense_Mutation_p.D141Y|TMTC2_uc010suk.1_Intron	p.D141Y	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	853	+			141			Helical; (Potential).		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.421G>T	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845573	0.71603	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.65364	0.5;-0.15;0.38	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.83977	0.5371	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86963	0.2093	10	0.87932	D	0	-24.6921	18.1624	0.89712	0.0:0.0:1.0:0.0	.	141;141	Q8N394;F8VSH2	TMTC2_HUMAN;.	Y	141;141;135	ENSP00000322300:D141Y;ENSP00000448292:D141Y;ENSP00000447609:D135Y	ENSP00000322300:D141Y	D	+	1	0	TMTC2	81775257	1.000000	0.71417	0.127000	0.21898	0.868000	0.49771	9.174000	0.94824	2.788000	0.95919	0.650000	0.86243	GAT		0.542	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		31	2	1	0	3.03874e-20	0.003271	5.3094e-20	31	2				
LRRIQ1	84125	broad.mit.edu	37	12	85460613	85460613	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:85460613G>T	ENST00000393217.2	+	10	2693	c.2632G>T	c.(2632-2634)Ggt>Tgt	p.G878C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	878										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)		TTCTCTTCATGGTTTGGATGG	0.284																																							uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2632-2634)GGT>TGT		leucine-rich repeats and IQ motif containing 1							79.0	78.0	78.0					12																	85460613		2202	4296	6498	SO:0001583	missense	84125							g.chr12:85460613G>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.2632G>T	12.37:g.85460613G>T	ENSP00000376910:p.Gly878Cys					LRRIQ1_uc001tab.1_Missense_Mutation_p.G878C	p.G878C	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	10	2743	+			878			LRR 3.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2632G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157394	0.78114	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.25250	1.81	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.58637	0.2136	M	0.84511	2.7	0.47778	D	0.999519	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64071	-0.6493	10	0.87932	D	0	.	19.6248	0.95674	0.0:0.0:1.0:0.0	.	878;853	Q96JM4;C9JI57	LRIQ1_HUMAN;.	C	878;853;878	ENSP00000376910:G878C	ENSP00000256007:G878C	G	+	1	0	LRRIQ1	83984744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.321000	0.79088	2.716000	0.92895	0.563000	0.77884	GGT		0.284	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		18	5	1	0	0.00074312	0.006122	0.000790884	18	5				
LRRIQ1	84125	broad.mit.edu	37	12	85500333	85500333	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:85500333G>A	ENST00000393217.2	+	15	3378	c.3317G>A	c.(3316-3318)tGc>tAc	p.C1106Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1106										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)		TTTGATGCATGCTATTCTCTC	0.328																																							uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3316-3318)TGC>TAC		leucine-rich repeats and IQ motif containing 1							137.0	136.0	136.0					12																	85500333		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85500333G>A	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.3317G>A	12.37:g.85500333G>A	ENSP00000376910:p.Cys1106Tyr					LRRIQ1_uc001tab.1_Missense_Mutation_p.C1106Y	p.C1106Y	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	15	3428	+			1106					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3317G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694468	0.48202	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.58210	0.35	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	L	0.34521	1.04	0.46185	D	0.998911	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.68205	-0.5470	10	0.87932	D	0	.	18.3372	0.90293	0.0:0.0:1.0:0.0	.	1106;1081	Q96JM4;C9JI57	LRIQ1_HUMAN;.	Y	1106;1081;1106	ENSP00000376910:C1106Y	ENSP00000256007:C1106Y	C	+	2	0	LRRIQ1	84024464	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	4.264000	0.58859	2.607000	0.88179	0.557000	0.71058	TGC		0.328	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		43	10	0	0	0	0.003214	0	43	10				
CCER1	196477	broad.mit.edu	37	12	91347991	91347991	+	Nonsense_Mutation	SNP	C	C	A	rs370019436		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:91347991C>A	ENST00000358859.2	-	1	962	c.529G>T	c.(529-531)Gag>Tag	p.E177*	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	177																	TCTCTCCACTCATACAGCTTG	0.667																																							uc001tbj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(529-531)GAG>TAG		hypothetical protein LOC196477							50.0	52.0	51.0					12																	91347991		2203	4300	6503	SO:0001587	stop_gained	196477							g.chr12:91347991C>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.529G>T	12.37:g.91347991C>A	ENSP00000351727:p.Glu177*						p.E177*	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	963	-			177					Q8TC47	Nonsense_Mutation	SNP	ENST00000358859.2	37	c.529G>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193423	0.94960	.	.	ENSG00000197651	ENST00000358859	.	.	.	4.52	2.63	0.31362	.	0.228496	0.22576	N	0.058276	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.5781	12.6528	0.56772	0.0:0.6812:0.3188:0.0	.	.	.	.	X	177	.	ENSP00000351727:E177X	E	-	1	0	C12orf12	89872122	0.052000	0.20516	0.356000	0.25785	0.024000	0.10985	1.334000	0.33827	0.482000	0.27582	0.462000	0.41574	GAG		0.667	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		36	12	1	0	1.60099e-16	0.004878	2.56158e-16	36	12				
SOCS2	8835	broad.mit.edu	37	12	93968550	93968550	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:93968550G>T	ENST00000340600.2	+	3	790	c.192G>T	c.(190-192)gaG>gaT	p.E64D	SOCS2_ENST00000551556.1_Missense_Mutation_p.E64D|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549206.1_Missense_Mutation_p.E64D|SOCS2_ENST00000549122.1_Missense_Mutation_p.E64D|SOCS2_ENST00000536696.2_Missense_Mutation_p.E64D	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	64	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AATTAAAAGAGGCACCAGAAG	0.373																																							uc001tcw.1		NA																	0				lung(1)	1						c.(190-192)GAG>GAT		suppressor of cytokine signaling-2							65.0	65.0	65.0					12																	93968550		2203	4300	6503	SO:0001583	missense	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968550G>T	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.192G>T	12.37:g.93968550G>T	ENSP00000339428:p.Glu64Asp					SOCS2_uc001tcx.1_Missense_Mutation_p.E64D|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.E64D|SOCS2_uc001tcz.2_3'UTR	p.E64D	NM_003877	NP_003868	O14508	SOCS2_HUMAN			3	782	+			64			SH2.		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	c.192G>T	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	G	3.360	-0.130607	0.06753	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.84	2.62	0.31277	SH2 motif (4);	0.044983	0.85682	D	0.000000	T	0.07593	0.0191	N	0.01168	-0.975	0.27102	N	0.962592	B	0.02656	0.0	B	0.01281	0.0	T	0.29366	-1.0014	10	0.10636	T	0.68	-2.5971	3.0092	0.06039	0.0825:0.2127:0.3659:0.3389	.	64	O14508	SOCS2_HUMAN	D	64;64;64;12;64;64;64;64	ENSP00000339428:E64D;ENSP00000448815:E64D;ENSP00000442898:E64D;ENSP00000447902:E64D;ENSP00000447161:E64D;ENSP00000448611:E64D;ENSP00000449227:E64D	ENSP00000339428:E64D	E	+	3	2	SOCS2	92492681	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.663000	0.25053	1.480000	0.48289	0.655000	0.94253	GAG		0.373	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2			9	1	1	0	7.48243e-07	0.006214	8.9163e-07	9	1				
PLXNC1	10154	broad.mit.edu	37	12	94562941	94562941	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:94562941C>A	ENST00000258526.4	+	2	1324	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K	RP11-74K11.2_ENST00000551029.1_RNA|RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	359	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGAAGGGGATCAACCTGAAAG	0.383																																							uc001tdc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1075-1077)CAA>AAA		plexin C1 precursor							153.0	118.0	130.0					12																	94562941		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94562941C>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1075C>A	12.37:g.94562941C>A	ENSP00000258526:p.Gln359Lys						p.Q359K	NM_005761	NP_005752	O60486	PLXC1_HUMAN			2	1324	+			359			Extracellular (Potential).|Sema.		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1075C>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	8.357	0.832231	0.16820	.	.	ENSG00000136040	ENST00000258526	T	0.04502	3.61	5.72	0.155	0.14906	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.547107	0.19045	N	0.124181	T	0.03564	0.0102	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48186	-0.9057	10	0.02654	T	1	.	10.2602	0.43423	0.2403:0.4088:0.3509:0.0	.	359	O60486	PLXC1_HUMAN	K	359	ENSP00000258526:Q359K	ENSP00000258526:Q359K	Q	+	1	0	PLXNC1	93087072	0.000000	0.05858	0.009000	0.14445	0.558000	0.35554	0.025000	0.13577	0.100000	0.17581	0.655000	0.94253	CAA		0.383	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			8	3	1	0	0.00307968	0.00308	0.00324849	8	3				
ANKS1B	56899	broad.mit.edu	37	12	100377919	100377919	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:100377919C>T	ENST00000547776.2	-	1	96	c.97G>A	c.(97-99)Ggt>Agt	p.G33S	ANKS1B_ENST00000547010.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G33S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	33						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCGGATCCACCGCCCAGGATC	0.577																																							uc001tge.1		NA																	0					0						c.(97-99)GGT>AGT		cajalin 2 isoform a							71.0	80.0	77.0					12																	100377919		1972	4134	6106	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100377919C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.97G>A	12.37:g.100377919C>T	ENSP00000449629:p.Gly33Ser					ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.G33S	p.G33S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	1	514	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	33					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.97G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	8.545	0.874211	0.17395	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.51817	0.69;0.69;0.95	4.5	3.36	0.38483	Ankyrin repeat-containing domain (3);	0.344787	0.20507	N	0.090966	T	0.25382	0.0617	N	0.16307	0.4	0.80722	D	1	B;B	0.22983	0.078;0.078	B;B	0.15052	0.006;0.012	T	0.08027	-1.0742	9	.	.	.	-1.6831	6.0224	0.19636	0.0:0.7553:0.0:0.2447	.	33;33	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	S	33	ENSP00000449629:G33S;ENSP00000331381:G33S;ENSP00000449894:G33S	.	G	-	1	0	ANKS1B	98902050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.524000	0.53495	2.048000	0.60808	0.462000	0.41574	GGT		0.577	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		23	6	0	0	0	0.00278	0	23	6				
SSH1	54434	broad.mit.edu	37	12	109192936	109192936	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:109192936C>A	ENST00000326495.5	-	13	1282	c.1189G>T	c.(1189-1191)Gtg>Ttg	p.V397L	SSH1_ENST00000326470.5_Missense_Mutation_p.V408L|SSH1_ENST00000551165.1_Missense_Mutation_p.V397L|SSH1_ENST00000360239.3_Missense_Mutation_p.V85L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	397	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGCGACTCACGCCCATTTTG	0.537																																							uc001tnm.2		NA																	0				ovary(4)	4						c.(1189-1191)GTG>TTG		slingshot 1 isoform 1							53.0	49.0	50.0					12																	109192936		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109192936C>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1189G>T	12.37:g.109192936C>A	ENSP00000315713:p.Val397Leu					SSH1_uc001tnl.2_Missense_Mutation_p.V85L|SSH1_uc010sxg.1_Missense_Mutation_p.V408L|SSH1_uc001tnn.3_Missense_Mutation_p.V397L	p.V397L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			13	1276	-			397			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1189G>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244355	0.95272	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;D;D;D	0.85484	1.48;-1.99;-1.99;-1.99	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92964	0.7761	M	0.82823	2.61	0.58432	D	0.999993	P;D;P;D	0.63880	0.852;0.971;0.759;0.993	P;P;P;D	0.70935	0.625;0.729;0.724;0.971	D	0.93626	0.6952	10	0.87932	D	0	-40.3197	19.2929	0.94110	0.0:1.0:0.0:0.0	.	408;397;397;85	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	L	85;397;397;408	ENSP00000353374:V85L;ENSP00000315713:V397L;ENSP00000448824:V397L;ENSP00000326107:V408L	ENSP00000326107:V408L	V	-	1	0	SSH1	107717065	1.000000	0.71417	0.862000	0.33874	0.816000	0.46133	7.818000	0.86416	2.636000	0.89361	0.655000	0.94253	GTG		0.537	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		11	1	1	0	0.00010058	0.001368	0.000111028	11	1				
CUX2	23316	broad.mit.edu	37	12	111731317	111731317	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:111731317C>A	ENST00000261726.6	+	6	658	c.504C>A	c.(502-504)ccC>ccA	p.P168P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	168					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGGCATTCCCGGGAAAGCCC	0.602																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(502-504)CCC>CCA		cut-like 2							29.0	38.0	35.0					12																	111731317		2043	4208	6251	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111731317C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.504C>A	12.37:g.111731317C>A						CUX2_uc001tsb.1_Silent_p.P223P	p.P168P	NM_015267	NP_056082	O14529	CUX2_HUMAN			6	657	+			168					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.504C>A	CCDS41837.1																																																																																				0.602	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		4	10	1	0	0.000602214	0.000602	0.000642362	4	10				
TMEM116	89894	broad.mit.edu	37	12	112375995	112375995	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:112375995C>A	ENST00000550831.3	-	5	427	c.59G>T	c.(58-60)cGa>cTa	p.R20L	TMEM116_ENST00000437003.2_Missense_Mutation_p.R20L|TMEM116_ENST00000355445.3_Missense_Mutation_p.R77L|TMEM116_ENST00000552374.2_Missense_Mutation_p.R112L|TMEM116_ENST00000549537.2_5'UTR|TMEM116_ENST00000354825.3_Missense_Mutation_p.R20L	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	20						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						TTGACAAACTCGACAAGTATA	0.323																																							uc001ttc.1		NA																	0				ovary(1)	1						c.(58-60)CGA>CTA		transmembrane protein 116							72.0	76.0	75.0					12																	112375995		2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112375995C>A	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.59G>T	12.37:g.112375995C>A	ENSP00000450377:p.Arg20Leu					TMEM116_uc001ttd.1_Missense_Mutation_p.R112L|TMEM116_uc001tte.1_Missense_Mutation_p.R77L|TMEM116_uc001ttf.1_Missense_Mutation_p.R20L|TMEM116_uc001ttg.1_RNA|TMEM116_uc001tth.1_5'UTR|TMEM116_uc001tti.1_Missense_Mutation_p.R112L	p.R20L	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN			8	715	-			20					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.59G>T	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	11.97	1.796705	0.31777	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000552374;ENST00000550037	T;T;T;T;T;T	0.46451	0.99;0.99;0.99;0.99;0.99;0.87	5.65	-2.12	0.07165	.	2.070430	0.02068	N	0.051357	T	0.32645	0.0836	L	0.40543	1.245	0.09310	N	1	B;B;B;P	0.35844	0.433;0.073;0.073;0.524	B;B;B;B	0.32583	0.072;0.035;0.063;0.148	T	0.20472	-1.0274	10	0.49607	T	0.09	3.2682	6.1177	0.20136	0.0:0.2811:0.141:0.5779	.	112;77;112;20	F8VNZ8;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	L	77;20;20;20;112;112	ENSP00000347620:R77L;ENSP00000346883:R20L;ENSP00000450377:R20L;ENSP00000395861:R20L;ENSP00000447731:R112L;ENSP00000446516:R112L	ENSP00000346883:R20L	R	-	2	0	TMEM116	110860378	0.000000	0.05858	0.001000	0.08648	0.834000	0.47266	-0.329000	0.07935	-0.810000	0.04375	0.467000	0.42956	CGA		0.323	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		14	42	1	0	2.61681e-11	0.00245	3.65328e-11	14	42				
RPH3A	22895	broad.mit.edu	37	12	113303256	113303256	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:113303256G>T	ENST00000389385.4	+	6	765	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L	RPH3A_ENST00000548866.1_Missense_Mutation_p.V41L|RPH3A_ENST00000447659.2_Missense_Mutation_p.V41L|RPH3A_ENST00000420983.2_Missense_Mutation_p.V90L|RPH3A_ENST00000543106.2_Missense_Mutation_p.V90L|RPH3A_ENST00000551052.1_Missense_Mutation_p.V86L|RPH3A_ENST00000415485.3_Missense_Mutation_p.V90L	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	90	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)			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)		GAGGAAGAACGTGGCTGGAGA	0.537																																							uc010syl.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(268-270)GTG>TTG		rabphilin 3A homolog isoform 1							209.0	183.0	192.0					12																	113303256		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113303256G>T	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.268G>T	12.37:g.113303256G>T	ENSP00000374036:p.Val90Leu					RPH3A_uc001ttz.2_Missense_Mutation_p.V90L|RPH3A_uc001tty.2_Missense_Mutation_p.V86L|RPH3A_uc009zwe.1_Missense_Mutation_p.V86L|RPH3A_uc010sym.1_Missense_Mutation_p.V41L|RPH3A_uc001tua.2_5'Flank	p.V90L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	6	630	+			90			RabBD.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.268G>T	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811295	0.90707	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.61	4.72	0.59763	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.105638	0.40144	N	0.001172	T	0.69278	0.3093	M	0.72894	2.215	0.58432	D	0.999998	P;P;B;B	0.45531	0.86;0.491;0.341;0.293	B;B;B;B	0.34346	0.18;0.091;0.063;0.038	T	0.72593	-0.4246	10	0.48119	T	0.1	.	13.3617	0.60659	0.0771:0.0:0.9229:0.0	.	41;90;90;86	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	L	90;90;90;90;90;90;90;90;90;90;41;23;90;86;90;90;41;90	ENSP00000446570:V90L;ENSP00000449705:V90L;ENSP00000440384:V90L;ENSP00000446780:V90L;ENSP00000447306:V90L;ENSP00000450382:V90L;ENSP00000449613:V90L;ENSP00000447505:V90L;ENSP00000449650:V90L;ENSP00000374036:V90L;ENSP00000413254:V41L;ENSP00000448100:V23L;ENSP00000447083:V90L;ENSP00000448297:V86L;ENSP00000405357:V90L;ENSP00000450216:V90L;ENSP00000450347:V41L;ENSP00000408889:V90L	ENSP00000374036:V90L	V	+	1	0	RPH3A	111787639	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.196000	0.77805	1.357000	0.45904	0.655000	0.94253	GTG		0.537	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		45	27	1	0	1.48734e-19	0.003214	2.57347e-19	45	27				
RPH3A	22895	broad.mit.edu	37	12	113307593	113307593	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:113307593C>G	ENST00000389385.4	+	9	1137	c.640C>G	c.(640-642)Cag>Gag	p.Q214E	RPH3A_ENST00000548866.1_Missense_Mutation_p.Q165E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Missense_Mutation_p.Q165E|RPH3A_ENST00000420983.2_Missense_Mutation_p.Q214E|RPH3A_ENST00000543106.2_Missense_Mutation_p.Q214E|RPH3A_ENST00000551052.1_Missense_Mutation_p.Q210E|RPH3A_ENST00000415485.3_Missense_Mutation_p.Q214E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	214	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)			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)		GGGCCCGGGTCAGAAGACAGG	0.453																																							uc010syl.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(640-642)CAG>GAG		rabphilin 3A homolog isoform 1							129.0	134.0	133.0					12																	113307593		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307593C>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.640C>G	12.37:g.113307593C>G	ENSP00000374036:p.Gln214Glu					RPH3A_uc001ttz.2_Missense_Mutation_p.Q214E|RPH3A_uc001tty.2_Missense_Mutation_p.Q210E|RPH3A_uc009zwe.1_Missense_Mutation_p.Q210E|RPH3A_uc010sym.1_Missense_Mutation_p.Q165E|RPH3A_uc001tua.2_5'UTR	p.Q214E	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	9	1002	+			214			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.640C>G	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	7.879	0.729808	0.15507	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.60299	0.2;0.2;0.21;0.22;0.2;0.21;0.2	4.42	4.42	0.53409	.	0.300312	0.24024	N	0.042247	T	0.48352	0.1495	L	0.43152	1.355	0.23138	N	0.998236	B;B;B;B	0.22211	0.017;0.01;0.01;0.066	B;B;B;B	0.21708	0.009;0.006;0.006;0.036	T	0.32719	-0.9896	10	0.28530	T	0.3	.	12.7544	0.57325	0.0:1.0:0.0:0.0	.	165;214;214;210	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	E	214;214;165;210;214;165;214	ENSP00000440384:Q214E;ENSP00000374036:Q214E;ENSP00000413254:Q165E;ENSP00000448297:Q210E;ENSP00000405357:Q214E;ENSP00000450347:Q165E;ENSP00000408889:Q214E	ENSP00000374036:Q214E	Q	+	1	0	RPH3A	111791976	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	3.015000	0.49599	2.471000	0.83476	0.655000	0.94253	CAG		0.453	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		59	30	0	0	0	0.00361	0	59	30				
OAS1	4938	broad.mit.edu	37	12	113354411	113354411	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:113354411C>A	ENST00000202917.5	+	4	1015	c.752C>A	c.(751-753)aCa>aAa	p.T251K	OAS1_ENST00000551241.1_Missense_Mutation_p.T251K|OAS1_ENST00000452357.2_Missense_Mutation_p.T251K|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.T251K	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	251					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CATTTCAACACAGCCCAGGGA	0.463																																							uc001tud.2		NA																	0				ovary(2)	2						c.(751-753)ACA>AAA		2',5'-oligoadenylate synthetase 1 isoform 1							110.0	100.0	103.0					12																	113354411		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113354411C>A	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.752C>A	12.37:g.113354411C>A	ENSP00000202917:p.Thr251Lys					OAS1_uc010syn.1_Missense_Mutation_p.T250K|OAS1_uc010syo.1_3'UTR|OAS1_uc001tub.2_Missense_Mutation_p.T251K|OAS1_uc001tuc.2_Missense_Mutation_p.T251K|OAS1_uc009zwf.2_Missense_Mutation_p.T250K	p.T251K	NM_016816	NP_058132	P00973	OAS1_HUMAN			4	858	+			251					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.752C>A	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856921	0.51376	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.84	3.03	0.35002	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	4.915250	0.00424	N	0.000071	T	0.76090	0.3939	M	0.91612	3.225	0.24006	N	0.99619	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;0.981;0.999;0.998;0.996	T	0.20773	-1.0265	10	0.87932	D	0	-13.386	7.1865	0.25803	0.0:0.8001:0.0:0.1999	.	251;251;251;251;251	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	K	251;251;251;251;251;247	ENSP00000202917:T251K;ENSP00000388001:T251K;ENSP00000415721:T251K;ENSP00000448790:T251K;ENSP00000448348:T247K	ENSP00000202917:T251K	T	+	2	0	OAS1	111838794	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	-0.242000	0.08928	0.669000	0.31146	0.467000	0.42956	ACA		0.463	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			36	18	1	0	3.03874e-20	0.003271	5.3094e-20	36	18				
RBM19	9904	broad.mit.edu	37	12	114397122	114397122	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:114397122C>A	ENST00000545145.2	-	5	544	c.466G>T	c.(466-468)Gct>Tct	p.A156S	RBM19_ENST00000392561.3_Missense_Mutation_p.A156S|RBM19_ENST00000261741.5_Missense_Mutation_p.A156S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	156					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAGGGCTCAGCATCCAGGCCA	0.602																																							uc009zwi.2		NA																	0				skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(466-468)GCT>TCT		RNA binding motif protein 19							107.0	94.0	98.0					12																	114397122		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114397122C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.466G>T	12.37:g.114397122C>A	ENSP00000442053:p.Ala156Ser					RBM19_uc001tvn.3_Missense_Mutation_p.A156S|RBM19_uc001tvm.2_Missense_Mutation_p.A156S	p.A156S	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			5	610	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		156					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.466G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	5.285	0.237986	0.10023	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06608	3.28;3.28;3.28	5.27	-6.79	0.01715	.	1.095560	0.06944	N	0.813287	T	0.05456	0.0144	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.40079	-0.9582	10	0.16420	T	0.52	1.0485	14.2979	0.66327	0.0:0.3841:0.0:0.6159	.	156	Q9Y4C8	RBM19_HUMAN	S	156	ENSP00000442053:A156S;ENSP00000376344:A156S;ENSP00000261741:A156S	ENSP00000261741:A156S	A	-	1	0	RBM19	112881505	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.784000	0.04633	-1.804000	0.01241	-0.142000	0.14014	GCT		0.602	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		10	56	1	0	1.33987e-11	0.008291	1.88722e-11	10	56				
TBX5	6910	broad.mit.edu	37	12	114793770	114793770	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:114793770C>A	ENST00000310346.4	-	9	1790	c.1124G>T	c.(1123-1125)cGg>cTg	p.R375L	TBX5_ENST00000405440.2_Missense_Mutation_p.R375L|TBX5_ENST00000349716.5_Missense_Mutation_p.R325L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	375					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCAAGCTTGCCGCTGTGCCGA	0.592																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	0		p.R375W(1)		ovary(6)|pancreas(1)|skin(1)	8						c.(1123-1125)CGG>CTG		T-box 5 isoform 1							93.0	81.0	85.0					12																	114793770		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793770C>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1124G>T	12.37:g.114793770C>A	ENSP00000309913:p.Arg375Leu					TBX5_uc001tvp.2_Missense_Mutation_p.R375L|TBX5_uc001tvq.2_Missense_Mutation_p.R325L	p.R375L	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1619	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		375					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1124G>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108391	0.94292	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.52295	0.67;0.67;0.67	5.27	5.27	0.74061	.	0.059422	0.64402	D	0.000001	T	0.66137	0.2759	M	0.80183	2.485	0.80722	D	1	D	0.62365	0.991	P	0.54815	0.761	T	0.71576	-0.4551	10	0.62326	D	0.03	.	18.8889	0.92391	0.0:1.0:0.0:0.0	.	375	Q99593	TBX5_HUMAN	L	325;375;272;375	ENSP00000337723:R325L;ENSP00000309913:R375L;ENSP00000384152:R375L	ENSP00000309913:R375L	R	-	2	0	TBX5	113278153	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.463000	0.83235	0.655000	0.94253	CGG		0.592	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		47	28	1	0	1.63429e-32	0.00361	3.28241e-32	47	28				
TBX3	6926	broad.mit.edu	37	12	115118881	115118881	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:115118881C>A	ENST00000257566.3	-	2	849	c.460G>T	c.(460-462)Gac>Tac	p.D154Y	TBX3_ENST00000349155.2_Missense_Mutation_p.D154Y	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	154					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCTATAATGTCCATCAATAAA	0.388																																							uc001tvt.1		NA																	0				ovary(2)|skin(1)	3						c.(460-462)GAC>TAC		T-box 3 protein isoform 2							136.0	142.0	140.0					12																	115118881		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115118881C>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.460G>T	12.37:g.115118881C>A	ENSP00000257566:p.Asp154Tyr					TBX3_uc001tvu.1_Missense_Mutation_p.D154Y|TBX3_uc010syw.1_Missense_Mutation_p.D154Y	p.D154Y	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1424	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		154			T-box; first part.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.460G>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111892	0.94339	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.90563	-2.69;-2.69	5.75	5.75	0.90469	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	H	0.98629	4.285	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	0.98727	1.0711	10	0.87932	D	0	.	18.9263	0.92546	0.0:1.0:0.0:0.0	.	154;154;154	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	Y	154	ENSP00000257567:D154Y;ENSP00000257566:D154Y	ENSP00000257566:D154Y	D	-	1	0	TBX3	113603264	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.485000	0.81204	2.721000	0.93114	0.655000	0.94253	GAC		0.388	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		52	32	1	0	1.11015e-26	0.00361	2.11627e-26	52	32				
KSR2	283455	broad.mit.edu	37	12	117968764	117968764	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:117968764G>A	ENST00000339824.5	-	12	2511	c.1784C>T	c.(1783-1785)cCg>cTg	p.P595L	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.P566L|KSR2_ENST00000302438.5_Missense_Mutation_p.P292L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	595					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P292Q(1)|p.P627Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGGTCACCGGATGCAGGAT	0.542																																							uc001two.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1696-1698)CCG>CTG		kinase suppressor of ras 2							100.0	116.0	111.0					12																	117968764		1923	4127	6050	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117968764G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1784C>T	12.37:g.117968764G>A	ENSP00000339952:p.Pro595Leu						p.P566L	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			12	1752	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		595					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1697C>T		.	.	.	.	.	.	.	.	.	.	G	15.44	2.832870	0.50951	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.86164	-1.2;-1.2;-2.08	5.13	5.13	0.70059	.	0.225340	0.46758	D	0.000261	T	0.81550	0.4846	L	0.51422	1.61	0.80722	D	1	B	0.33612	0.419	B	0.19666	0.026	T	0.79509	-0.1774	10	0.10111	T	0.7	.	18.9665	0.92698	0.0:0.0:1.0:0.0	.	595	Q6VAB6	KSR2_HUMAN	L	566;595;292;267	ENSP00000389715:P566L;ENSP00000339952:P595L;ENSP00000305466:P292L	ENSP00000305466:P292L	P	-	2	0	KSR2	116453147	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	7.781000	0.85668	2.540000	0.85666	0.650000	0.86243	CCG		0.542	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		36	70	0	0	0	0.006999	0	36	70				
CIT	11113	broad.mit.edu	37	12	120156602	120156602	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:120156602T>C	ENST00000261833.7	-	30	3831	c.3779A>G	c.(3778-3780)gAg>gGg	p.E1260G	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.E1302G	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1260	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGCTTCAGCTCATTGTACTG	0.547																																							uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(3778-3780)GAG>GGG		citron							78.0	82.0	81.0					12																	120156602		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120156602T>C	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3779A>G	12.37:g.120156602T>C	ENSP00000261833:p.Glu1260Gly					CIT_uc001txh.1_Missense_Mutation_p.E779G|CIT_uc001txj.1_Missense_Mutation_p.E1302G	p.E1260G	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	30	3832	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1260			Potential.|Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3779A>G	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.09|19.09	3.759633|3.759633	0.69763|0.69763	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.70282|.	-0.41;-0.47|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.056570|.	0.64402|.	D|.	0.000001|.	T|T	0.61590|0.61590	0.2359|0.2359	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P|.	0.49559|.	0.651;0.608;0.925|.	B;B;P|.	0.49752|.	0.115;0.156;0.621|.	T|T	0.58707|0.58707	-0.7589|-0.7589	10|5	0.59425|.	D|.	0.04|.	.|.	15.5612|15.5612	0.76249|0.76249	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1302;1260;778|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	G|G	1302;1260|873	ENSP00000376306:E1302G;ENSP00000261833:E1260G|.	ENSP00000261833:E1260G|.	E|S	-|-	2|1	0|0	CIT|CIT	118640985|118640985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	8.040000|8.040000	0.89188|0.89188	2.069000|2.069000	0.61940|0.61940	0.533000|0.533000	0.62120|0.62120	GAG|AGC		0.547	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		3	54	0	0	0	0.004672	0	3	54				
CIT	11113	broad.mit.edu	37	12	120171981	120171981	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:120171981T>A	ENST00000261833.7	-	25	3264	c.3212A>T	c.(3211-3213)gAg>gTg	p.E1071V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.E1113V	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1071					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTCTGTTTCTCGGTGTCCAG	0.562																																							uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(3211-3213)GAG>GTG		citron							101.0	88.0	92.0					12																	120171981		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120171981T>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3212A>T	12.37:g.120171981T>A	ENSP00000261833:p.Glu1071Val					CIT_uc001txh.1_Missense_Mutation_p.E605V|CIT_uc001txj.1_Missense_Mutation_p.E1113V	p.E1071V	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	25	3265	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1071			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3212A>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.529117|4.529117	0.85706|0.85706	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026|ENST00000392520	T;T;T|.	0.70399|.	-0.42;-0.48;1.28|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56247|.	0.1972|.	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	0.999;0.998;1.0|.	D;D;D|.	0.83275|.	0.996;0.987;0.993|.	T|.	0.53265|.	-0.8463|.	10|.	0.66056|.	D|.	0.02|.	.|.	15.0365|15.0365	0.71751|0.71751	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1113;1071;604|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	V|X	1113;1071;113|699	ENSP00000376306:E1113V;ENSP00000261833:E1071V;ENSP00000446105:E113V|.	ENSP00000261833:E1071V|.	E|R	-|-	2|1	0|2	CIT|CIT	118656364|118656364	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.920000|0.920000	0.55202|0.55202	8.040000|8.040000	0.89188|0.89188	1.963000|1.963000	0.57068|0.57068	0.383000|0.383000	0.25322|0.25322	GAG|AGA		0.562	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		28	13	0	0	0	0.009535	0	28	13				
KDM2B	84678	broad.mit.edu	37	12	122012500	122012500	+	Splice_Site	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:122012500T>C	ENST00000377071.4	-	4	423		c.e4-2		KDM2B_ENST00000538046.2_Splice_Site|KDM2B_ENST00000377069.4_Splice_Site|KDM2B_ENST00000536437.1_Splice_Site	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAGGCATCCTGGGGAAAGAG	0.547																																							uc001uat.2		NA																	0				ovary(1)|skin(1)	2						c.e4-1		F-box and leucine-rich repeat protein 10 isoform							75.0	76.0	76.0					12																	122012500		1965	4162	6127	SO:0001630	splice_region_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:122012500T>C	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.351-2A>G	12.37:g.122012500T>C						KDM2B_uc001uas.2_Splice_Site_p.K86_splice|KDM2B_uc001uau.2_Splice_Site|KDM2B_uc001uav.3_Splice_Site_p.K117_splice	p.K117_splice	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			4	455	-								A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Splice_Site	SNP	ENST00000377071.4	37	c.351_splice	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947059	0.73672	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000539371	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5185	0.75846	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDM2B	120496883	1.000000	0.71417	0.974000	0.42286	0.874000	0.50279	7.107000	0.77047	2.246000	0.74042	0.533000	0.62120	.		0.547	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	Intron	5	38	0	0	0	0.001984	0	5	38				
MLXIP	22877	broad.mit.edu	37	12	122615452	122615452	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:122615452C>T	ENST00000319080.7	+	7	1104	c.972C>T	c.(970-972)gaC>gaT	p.D324D	MLXIP_ENST00000377037.2_5'Flank|MLXIP_ENST00000538698.1_5'Flank					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTAACCTGGACTTCATGGACA	0.547											OREG0022218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(105;787 1493 16200 18566 52466)	Esophageal Squamous(105;787 1493 16200 18566 52466)	uc001ubq.2		NA																	0				ovary(2)	2						c.(970-972)GAC>GAT		MLX interacting protein							123.0	125.0	124.0					12																	122615452		2059	4235	6294	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122615452C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.972C>T	12.37:g.122615452C>T			OREG0022218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1520	MLXIP_uc001ubr.2_Silent_p.D75D|MLXIP_uc001ubs.1_5'UTR|MLXIP_uc001ubt.2_5'Flank	p.D324D	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	7	972	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	324			Transactivation domain.|Required for cytoplasmic localization.			Silent	SNP	ENST00000319080.7	37	c.972C>T																																																																																					0.547	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		46	24	0	0	0	0.00361	0	46	24				
DHX37	57647	broad.mit.edu	37	12	125449024	125449024	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:125449024G>T	ENST00000308736.2	-	15	2059	c.1961C>A	c.(1960-1962)tCc>tAc	p.S654Y	DHX37_ENST00000544745.1_Missense_Mutation_p.S441Y	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	654	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GACACGGAAGGAGGATACGCC	0.622																																							uc001ugy.2		NA																	0				skin(1)	1						c.(1960-1962)TCC>TAC		DEAH (Asp-Glu-Ala-His) box polypeptide 37							133.0	113.0	120.0					12																	125449024		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125449024G>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1961C>A	12.37:g.125449024G>T	ENSP00000311135:p.Ser654Tyr						p.S654Y	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	15	2060	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		654			Helicase C-terminal.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.1961C>A	CCDS9261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.536387|3.536387	0.65085|0.65085	.|.	.|.	ENSG00000150990|ENSG00000150990	ENST00000543962|ENST00000308736;ENST00000544745	.|T;T	.|0.03035	.|4.07;4.07	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Helicase, C-terminal (3);	.|0.053358	.|0.85682	.|D	.|0.000000	T|T	0.24275|0.24275	0.0588|0.0588	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.68943	.|0.961	T|T	0.07770|0.07770	-1.0755|-1.0755	6|10	0.87932|0.87932	D|D	0|0	-39.338|-39.338	18.2623|18.2623	0.90039|0.90039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|654	.|Q8IY37	.|DHX37_HUMAN	T|Y	106|654;441	.|ENSP00000311135:S654Y;ENSP00000439009:S441Y	ENSP00000443661:P106T|ENSP00000311135:S654Y	P|S	-|-	1|2	0|0	DHX37|DHX37	124014977|124014977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.359000|0.359000	0.29487|0.29487	7.566000|7.566000	0.82347|0.82347	2.419000|2.419000	0.82065|0.82065	0.462000|0.462000	0.41574|0.41574	CCT|TCC		0.622	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		25	18	1	0	9.57634e-11	0.00333	1.30871e-10	25	18				
TMEM132B	114795	broad.mit.edu	37	12	126139074	126139074	+	Missense_Mutation	SNP	C	C	A	rs111507651		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:126139074C>A	ENST00000299308.3	+	9	3063	c.3055C>A	c.(3055-3057)Cca>Aca	p.P1019T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P531T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1019						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCTTCGGGCCCAAAGAGGAA	0.453																																							uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(3055-3057)CCA>ACA		transmembrane protein 132B							58.0	56.0	57.0					12																	126139074		1867	4103	5970	SO:0001583	missense	114795					integral to membrane		g.chr12:126139074C>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3055C>A	12.37:g.126139074C>A	ENSP00000299308:p.Pro1019Thr					TMEM132B_uc001uhf.1_Missense_Mutation_p.P531T	p.P1019T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	3063	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1019			Cytoplasmic (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.3055C>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279286	0.23307	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.08720	3.86;3.06	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000020	T	0.07052	0.0179	N	0.17723	0.515	0.44048	D	0.996787	B	0.28350	0.208	B	0.27887	0.084	T	0.40213	-0.9575	10	0.35671	T	0.21	.	14.872	0.70465	0.1435:0.8565:0.0:0.0	.	1019	Q14DG7	T132B_HUMAN	T	1019;531	ENSP00000299308:P1019T;ENSP00000440436:P531T	ENSP00000299308:P1019T	P	+	1	0	TMEM132B	124705027	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.680000	0.54641	2.741000	0.93983	0.655000	0.94253	CCA		0.453	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		14	17	1	0	2.61681e-11	0.00245	3.65328e-11	14	17				
RIMBP2	23504	broad.mit.edu	37	12	130935811	130935811	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:130935811G>T	ENST00000261655.4	-	5	545	c.382C>A	c.(382-384)Ccg>Acg	p.P128T	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P36T|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P36T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	128					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGAGGCTCCGGCCTGTCACCA	0.612																																							uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(382-384)CCG>ACG		RIM-binding protein 2							53.0	52.0	53.0					12																	130935811		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130935811G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.382C>A	12.37:g.130935811G>T	ENSP00000261655:p.Pro128Thr					RIMBP2_uc001uim.2_Missense_Mutation_p.P36T	p.P128T	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	546	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	128					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.382C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	9.261	1.043223	0.19748	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20332	2.08;2.77;2.77	3.95	3.05	0.35203	.	0.090543	0.44902	U	0.000418	T	0.31513	0.0799	M	0.74881	2.28	0.27071	N	0.963313	P;B	0.40834	0.73;0.201	P;B	0.50231	0.635;0.107	T	0.12192	-1.0557	10	0.13853	T	0.58	-8.93	9.731	0.40361	0.0984:0.0:0.9016:0.0	.	36;128	O15034-2;O15034	.;RIMB2_HUMAN	T	128;36;36;36	ENSP00000261655:P128T;ENSP00000440347:P36T;ENSP00000439159:P36T	ENSP00000261655:P128T	P	-	1	0	RIMBP2	129501764	1.000000	0.71417	0.051000	0.19133	0.041000	0.13682	3.205000	0.51090	0.653000	0.30826	0.561000	0.74099	CCG		0.612	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		19	8	1	0	1.00905e-13	0.008871	1.49675e-13	19	8				
POLE	5426	broad.mit.edu	37	12	133244114	133244114	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:133244114C>A	ENST00000320574.5	-	20	2337	c.2294G>T	c.(2293-2295)cGt>cTt	p.R765L	POLE_ENST00000535270.1_Missense_Mutation_p.R738L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	765					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GAACTCGTAACGCCTGTCCCG	0.572								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2293-2295)CGT>CTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							198.0	175.0	182.0					12																	133244114		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133244114C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2294G>T	12.37:g.133244114C>A	ENSP00000322570:p.Arg765Leu					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R738L	p.R765L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	20	2338	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	765					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.2294G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736621	0.96865	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.86	5.86	0.93980	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70342	-0.4898	10	0.87932	D	0	-4.035	20.2526	0.98410	0.0:1.0:0.0:0.0	.	738;765	F5H1D6;Q07864	.;DPOE1_HUMAN	L	765;776;738;545;700	ENSP00000322570:R765L;ENSP00000406383:R776L;ENSP00000445753:R738L;ENSP00000442519:R545L	ENSP00000322570:R765L	R	-	2	0	POLE	131754187	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.770000	0.85390	2.789000	0.95967	0.558000	0.71614	CGT		0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		67	39	1	0	2.40655e-23	0.00361	4.41615e-23	67	39				
TUBA3C	7278	broad.mit.edu	37	13	19753574	19753574	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:19753574C>A	ENST00000400113.3	-	2	237	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	45					'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)			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)		GAGTCGTCCCCACCACCAATG	0.562																																							uc009zzj.2		NA																	0				ovary(3)|skin(2)	5						c.(133-135)GGG>TGG		tubulin, alpha 3c							224.0	182.0	197.0					13																	19753574		2203	4300	6503	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.chr13:19753574C>A	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.133G>T	13.37:g.19753574C>A	ENSP00000382982:p.Gly45Trp						p.G45W	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)	2	182	-		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)	45					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.133G>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	9.529	1.110268	0.20714	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.70164	-0.46	1.37	1.37	0.22104	.	0.000000	0.47455	U	0.000238	T	0.70885	0.3275	.	.	.	0.47994	D	0.999563	.	.	.	.	.	.	T	0.72852	-0.4167	7	0.87932	D	0	.	8.7074	0.34363	0.0:1.0:0.0:0.0	.	.	.	.	W	45	ENSP00000382982:G45W	ENSP00000354037:G45W	G	-	1	0	TUBA3C	18651574	1.000000	0.71417	0.948000	0.38648	0.468000	0.32798	6.436000	0.73417	1.070000	0.40811	0.194000	0.17425	GGG		0.562	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		21	47	1	0	4.26978e-12	0.00333	6.07409e-12	21	47				
ZMYM2	7750	broad.mit.edu	37	13	20579273	20579273	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:20579273A>G	ENST00000382874.2	+	6	1383	c.1193A>G	c.(1192-1194)cAg>cGg	p.Q398R	ZMYM2_ENST00000382869.3_Missense_Mutation_p.Q398R|ZMYM2_ENST00000382881.3_Missense_Mutation_p.Q311R|ZMYM2_ENST00000382871.2_Missense_Mutation_p.Q398R|ZMYM2_ENST00000382883.3_5'Flank	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GAGTCCTTCCAGGAATTCTGT	0.323																																							uc001umr.2		NA																	0				lung(3)|ovary(2)|prostate(1)	6						c.(1192-1194)CAG>CGG		zinc finger protein 198							95.0	93.0	93.0					13																	20579273		1818	4071	5889	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20579273A>G	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1193A>G	13.37:g.20579273A>G	ENSP00000372327:p.Gln398Arg					ZMYM2_uc001umq.2_Missense_Mutation_p.Q311R|ZMYM2_uc001ums.2_Missense_Mutation_p.Q398R|ZMYM2_uc001umt.2_Missense_Mutation_p.Q398R|ZMYM2_uc010tco.1_RNA	p.Q398R	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	6	1491	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	398			MYM-type 2.		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.1193A>G	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378501	0.82682	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.18338	2.22;2.26;2.22;2.22	5.29	5.29	0.74685	TRASH (1);Zinc finger, MYM-type (1);	0.051136	0.85682	D	0.000000	T	0.27933	0.0688	L	0.39147	1.195	0.80722	D	1	P;B	0.50272	0.933;0.443	P;B	0.56960	0.81;0.056	T	0.00998	-1.1486	10	0.33141	T	0.24	2.8703	15.2533	0.73564	1.0:0.0:0.0:0.0	.	398;311	Q9UBW7;Q9UBW7-2	ZMYM2_HUMAN;.	R	398;398;311;398;398	ENSP00000372322:Q398R;ENSP00000372334:Q311R;ENSP00000372327:Q398R;ENSP00000372324:Q398R	ENSP00000372322:Q398R	Q	+	2	0	ZMYM2	19477273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.849000	0.92178	1.998000	0.58463	0.482000	0.46254	CAG		0.323	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		14	25	0	0	0	0.006122	0	14	25				
MIPEP	4285	broad.mit.edu	37	13	24415500	24415500	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:24415500C>A	ENST00000382172.3	-	11	1332	c.1234G>T	c.(1234-1236)Gtg>Ttg	p.V412L		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	412					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TCGCTCCACACCTCTCCTTTT	0.493																																							uc001uox.3		NA																	0				central_nervous_system(1)	1						c.(1234-1236)GTG>TTG		mitochondrial intermediate peptidase precursor							107.0	93.0	98.0					13																	24415500		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24415500C>A		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1234G>T	13.37:g.24415500C>A	ENSP00000371607:p.Val412Leu						p.V412L	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	11	1334	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	412					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.1234G>T	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363744	0.41902	.	.	ENSG00000027001	ENST00000382172	T	0.08984	3.03	5.46	4.56	0.56223	Metallopeptidase, catalytic domain (1);	0.111073	0.64402	D	0.000010	T	0.10208	0.0250	M	0.62723	1.935	0.40907	D	0.984209	B	0.12630	0.006	B	0.20577	0.03	T	0.05305	-1.0893	10	0.46703	T	0.11	.	7.8151	0.29254	0.1219:0.6897:0.1185:0.0699	.	412	Q99797	MIPEP_HUMAN	L	412	ENSP00000371607:V412L	ENSP00000371607:V412L	V	-	1	0	MIPEP	23313500	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.442000	0.44873	2.720000	0.93068	0.591000	0.81541	GTG		0.493	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			7	19	1	0	0.000157383	0.00308	0.000172794	7	19				
RNF17	56163	broad.mit.edu	37	13	25433235	25433235	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:25433235C>A	ENST00000255324.5	+	26	3759	c.3707C>A	c.(3706-3708)gCa>gAa	p.A1236E	RNF17_ENST00000381921.1_Missense_Mutation_p.A1236E|RNF17_ENST00000339524.3_Missense_Mutation_p.A288E	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1236	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAGCATGTGCAGTAAGAGGA	0.383																																							uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(3706-3708)GCA>GAA		ring finger protein 17							118.0	116.0	117.0					13																	25433235		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25433235C>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3707C>A	13.37:g.25433235C>A	ENSP00000255324:p.Ala1236Glu					RNF17_uc010tdd.1_Missense_Mutation_p.A1095E|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.A1232E|RNF17_uc001ups.2_Missense_Mutation_p.A1175E|RNF17_uc010aac.2_Missense_Mutation_p.A434E|RNF17_uc010aad.2_Missense_Mutation_p.A288E	p.A1236E	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	26	3748	+		Lung SC(185;0.0225)|Breast(139;0.077)	1236			Tudor 3.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.3707C>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452364	0.63290	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.13	4.28	0.50868	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.285250	0.30510	N	0.009479	T	0.21962	0.0529	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.83275	0.966;0.989;0.935;0.996	T	0.01829	-1.1265	10	0.44086	T	0.13	-12.9624	6.93	0.24435	0.0:0.7416:0.0:0.2583	.	1232;288;1236;1236	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	E	1236;1236;560;288	ENSP00000255324:A1236E;ENSP00000371346:A1236E;ENSP00000388892:A560E;ENSP00000344776:A288E	ENSP00000255324:A1236E	A	+	2	0	RNF17	24331235	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	2.246000	0.43142	1.518000	0.48934	0.650000	0.86243	GCA		0.383	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		16	19	1	0	1.15088e-07	0.004007	1.40192e-07	16	19				
MTUS2	23281	broad.mit.edu	37	13	29598964	29598964	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:29598964G>T	ENST00000431530.3	+	1	217	c.159G>T	c.(157-159)gaG>gaT	p.E53D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	43						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCATGTTGGAGGTCAGCTCCT	0.423																																							uc001usl.3		NA																	0					0						c.(157-159)GAG>GAT		hypothetical protein LOC23281 isoform a							60.0	57.0	58.0					13																	29598964		1936	4131	6067	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29598964G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.159G>T	13.37:g.29598964G>T	ENSP00000392057:p.Glu53Asp						p.E53D	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	217	+			43					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.159G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	18.07	3.542731	0.65198	.	.	ENSG00000132938	ENST00000431530	T	0.14640	2.49	5.84	4.99	0.66335	.	0.463917	0.19833	N	0.105047	T	0.17959	0.0431	L	0.57536	1.79	0.42227	D	0.991872	P	0.46142	0.873	P	0.44811	0.461	T	0.01834	-1.1264	9	.	.	.	.	10.3059	0.43680	0.1655:0.0:0.8345:0.0	.	43	Q5JR59	MTUS2_HUMAN	D	53	ENSP00000392057:E53D	.	E	+	3	2	MTUS2	28496964	1.000000	0.71417	0.638000	0.29380	0.875000	0.50365	1.813000	0.38962	1.464000	0.47987	0.563000	0.77884	GAG		0.423	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		15	25	1	0	2.32078e-09	0.003163	3.00436e-09	15	25				
TEX26	122046	broad.mit.edu	37	13	31506870	31506870	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:31506870C>A	ENST00000380473.3	+	1	31	c.18C>A	c.(16-18)ccC>ccA	p.P6P	TEX26-AS1_ENST00000589840.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000591131.1_RNA|TEX26-AS1_ENST00000429200.2_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000585582.1_RNA|TEX26-AS1_ENST00000587596.1_RNA|TEX26-AS1_ENST00000411835.2_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000591300.1_RNA|TEX26-AS1_ENST00000586973.1_RNA	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	6																	AGCCTGGGCCCAGGGCTCCGG	0.687																																							uc001uti.2		NA																	0				ovary(2)|skin(1)	3						c.(16-18)CCC>CCA		hypothetical protein LOC122046							18.0	21.0	20.0					13																	31506870		2202	4300	6502	SO:0001819	synonymous_variant	122046							g.chr13:31506870C>A	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.18C>A	13.37:g.31506870C>A						uc001utg.1_5'Flank	p.P6P	NM_152325	NP_689538	Q8N6G2	CM026_HUMAN		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)	1	37	+		Lung SC(185;0.0281)	6						Silent	SNP	ENST00000380473.3	37	c.18C>A	CCDS9339.1																																																																																				0.687	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		8	16	1	0	1.12685e-05	0.004482	1.28783e-05	8	16				
RXFP2	122042	broad.mit.edu	37	13	32355867	32355867	+	Nonsense_Mutation	SNP	C	C	A	rs144275111		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:32355867C>A	ENST00000298386.2	+	10	916	c.845C>A	c.(844-846)tCg>tAg	p.S282*	RXFP2_ENST00000380314.1_Nonsense_Mutation_p.S282*	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	282					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCGTGCGATTCGCTCACAGTG	0.323																																							uc001utt.2		NA																	0					0						c.(844-846)TCG>TAG		relaxin/insulin-like family peptide receptor 2							86.0	85.0	85.0					13																	32355867		2203	4300	6503	SO:0001587	stop_gained	122042					integral to membrane|plasma membrane		g.chr13:32355867C>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.845C>A	13.37:g.32355867C>A	ENSP00000298386:p.Ser282*					RXFP2_uc010aba.2_Nonsense_Mutation_p.S265*	p.S282*	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	10	916	+		Lung SC(185;0.0262)	282			LRR 7.|Extracellular (Potential).		B1ALE9|Q3KU23	Nonsense_Mutation	SNP	ENST00000298386.2	37	c.845C>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997236	0.74818	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	.	.	.	5.73	3.83	0.44106	.	0.550723	0.20550	N	0.090129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2607	0.31783	0.2185:0.6969:0.0:0.0846	.	.	.	.	X	282	.	ENSP00000298386:S282X	S	+	2	0	RXFP2	31253867	0.001000	0.12720	0.045000	0.18777	0.416000	0.31233	0.799000	0.27028	1.454000	0.47793	-0.186000	0.12905	TCG		0.323	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		16	15	1	0	9.7654e-05	0.007413	0.000107965	16	15				
NBEA	26960	broad.mit.edu	37	13	35923251	35923251	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:35923251G>C	ENST00000400445.3	+	37	6444	c.5910G>C	c.(5908-5910)ctG>ctC	p.L1970L	NBEA_ENST00000379939.2_Silent_p.L1967L|NBEA_ENST00000540320.1_Silent_p.L1970L|NBEA_ENST00000310336.4_Silent_p.L1970L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1970					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTAGATTACTGTGCCATGCTA	0.323																																							uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(5908-5910)CTG>CTC		neurobeachin							80.0	74.0	76.0					13																	35923251		1821	4087	5908	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35923251G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5910G>C	13.37:g.35923251G>C						NBEA_uc010abi.2_Silent_p.L626L	p.L1970L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	37	6116	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1970					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.5910G>C	CCDS45026.1																																																																																				0.323	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		8	18	0	0	0	0.004482	0	8	18				
MAB21L1	4081	broad.mit.edu	37	13	36049778	36049778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:36049778G>T	ENST00000379919.4	-	1	1054	c.498C>A	c.(496-498)taC>taA	p.Y166*	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	166					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCTGCACCACGTACCTATCTC	0.592																																							uc001uvc.2		NA																	0				ovary(2)	2						c.(496-498)TAC>TAA		mab-21-like protein 1							75.0	78.0	77.0					13																	36049778		2203	4300	6503	SO:0001587	stop_gained	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049778G>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.498C>A	13.37:g.36049778G>T	ENSP00000369251:p.Tyr166*					NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.Y166*	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1055	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	166					Q6I9T5	Nonsense_Mutation	SNP	ENST00000379919.4	37	c.498C>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	40	8.004448	0.98605	.	.	ENSG00000180660	ENST00000379919	.	.	.	5.66	2.93	0.34026	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6536	8.7789	0.34778	0.2964:0.0:0.7036:0.0	.	.	.	.	X	166	.	ENSP00000369251:Y166X	Y	-	3	2	MAB21L1	34947778	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.596000	0.36718	0.734000	0.32515	0.655000	0.94253	TAC		0.592	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		16	18	1	0	1.5739e-10	0.004007	2.13247e-10	16	18				
CCNA1	8900	broad.mit.edu	37	13	37014166	37014166	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:37014166C>A	ENST00000255465.4	+	6	1208	c.944C>A	c.(943-945)aCc>aAc	p.T315N	CCNA1_ENST00000449823.1_Missense_Mutation_p.T271N|CCNA1_ENST00000418263.1_Missense_Mutation_p.T314N|CCNA1_ENST00000440264.1_Missense_Mutation_p.T271N			P78396	CCNA1_HUMAN	cyclin A1	315					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTCTATATCACCGATGATACA	0.383																																							uc001uvr.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(943-945)ACC>AAC		cyclin A1 isoform a							106.0	103.0	104.0					13																	37014166		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37014166C>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.944C>A	13.37:g.37014166C>A	ENSP00000255465:p.Thr315Asn					CCNA1_uc010teo.1_Missense_Mutation_p.T271N|CCNA1_uc010abq.2_Missense_Mutation_p.T271N|CCNA1_uc010abp.2_Missense_Mutation_p.T271N|CCNA1_uc001uvs.3_Missense_Mutation_p.T314N|CCNA1_uc010abr.2_RNA	p.T315N	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	6	1294	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	315					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.944C>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312888	0.60414	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.86	5.86	0.93980	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80933	-0.1161	10	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	314;315	P78396-2;P78396	.;CCNA1_HUMAN	N	271;271;314;315	ENSP00000400666:T271N;ENSP00000409873:T271N;ENSP00000396479:T314N;ENSP00000255465:T315N	ENSP00000255465:T315N	T	+	2	0	CCNA1	35912166	1.000000	0.71417	0.131000	0.22000	0.002000	0.02628	7.538000	0.82048	2.937000	0.99478	0.650000	0.86243	ACC		0.383	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		24	28	1	0	3.5997e-14	0.002299	5.44158e-14	24	28				
TRPC4	7223	broad.mit.edu	37	13	38211559	38211559	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:38211559C>A	ENST00000379705.3	-	11	3272	c.2415G>T	c.(2413-2415)ccG>ccT	p.P805P	TRPC4_ENST00000338947.5_Silent_p.P632P|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379679.1_Silent_p.P632P|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Silent_p.P810P			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	805	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGCTGATCTCGGATGAATCA	0.443																																							uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(2413-2415)CCG>CCT		transient receptor potential cation channel,							86.0	84.0	85.0					13																	38211559		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211559C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2415G>T	13.37:g.38211559C>A						TRPC4_uc010abv.2_Silent_p.P385P|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Silent_p.P632P|TRPC4_uc010abx.2_Silent_p.P810P|TRPC4_uc010aby.2_Intron	p.P805P	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	2650	-			805			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.2415G>T	CCDS9365.1																																																																																				0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		33	39	1	0	6.00712e-18	0.002445	1.00401e-17	33	39				
TRPC4	7223	broad.mit.edu	37	13	38248495	38248495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:38248495C>T	ENST00000379705.3	-	5	2101	c.1244G>A	c.(1243-1245)tGg>tAg	p.W415*	TRPC4_ENST00000338947.5_Nonsense_Mutation_p.W242*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.W242*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.W415*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.W415*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	415					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATTTCTCCCCATATGAAGCC	0.333																																							uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1243-1245)TGG>TAG		transient receptor potential cation channel,							89.0	86.0	87.0					13																	38248495		2203	4300	6503	SO:0001587	stop_gained	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38248495C>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1244G>A	13.37:g.38248495C>T	ENSP00000369027:p.Trp415*					TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Nonsense_Mutation_p.W415*|TRPC4_uc010tey.1_Nonsense_Mutation_p.W415*|TRPC4_uc010abw.2_Nonsense_Mutation_p.W242*|TRPC4_uc010abx.2_Nonsense_Mutation_p.W415*|TRPC4_uc010aby.2_Nonsense_Mutation_p.W415*	p.W415*	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	5	1479	-			415			Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	ENST00000379705.3	37	c.1244G>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	42	9.623204	0.99221	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8382	18.9997	0.92828	0.0:1.0:0.0:0.0	.	.	.	.	X	415;415;242;242;415;415;415;415;415	.	ENSP00000342580:W242X	W	-	2	0	TRPC4	37146495	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.549000	0.85964	0.591000	0.81541	TGG		0.333	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		10	17	0	0	0	0.006214	0	10	17				
STOML3	161003	broad.mit.edu	37	13	39542626	39542626	+	Silent	SNP	G	G	T	rs202188494		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:39542626G>T	ENST00000379631.4	-	6	906	c.562C>A	c.(562-564)Cga>Aga	p.R188R	STOML3_ENST00000423210.1_Silent_p.R179R	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	188					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATTTCCACTCGGGCCACCCGG	0.502																																							uc001uwx.2		NA																	0				ovary(1)	1						c.(562-564)CGA>AGA		stomatin-like 3 isoform 1							96.0	97.0	96.0					13																	39542626		2203	4300	6503	SO:0001819	synonymous_variant	161003					integral to membrane|plasma membrane		g.chr13:39542626G>T	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.562C>A	13.37:g.39542626G>T						STOML3_uc010tez.1_Silent_p.R179R	p.R188R	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	6	700	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	188			Cytoplasmic (Potential).		B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	c.562C>A	CCDS9367.1																																																																																				0.502	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			21	48	1	0	6.44725e-10	0.002299	8.51659e-10	21	48				
LHFP	10186	broad.mit.edu	37	13	40175298	40175298	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:40175298C>A	ENST00000379589.3	-	2	518	c.56G>T	c.(55-57)tGt>tTt	p.C19F	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	19						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GGTGGCAGCACAAAGAAAAGA	0.532			T	HMGA2	lipoma																																		uc001uxf.2		NA		Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				soft_tissue(2)|lung(1)|breast(1)	4						c.(55-57)TGT>TTT		lipoma HMGIC fusion partner precursor							73.0	66.0	68.0					13																	40175298		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:40175298C>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.56G>T	13.37:g.40175298C>A	ENSP00000368908:p.Cys19Phe						p.C19F	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	567	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	19					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.56G>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.832831	0.71258	.	.	ENSG00000183722	ENST00000379589	T	0.70399	-0.48	5.38	4.52	0.55395	.	0.070256	0.64402	D	0.000012	T	0.66177	0.2763	L	0.32530	0.975	0.38206	D	0.940332	P	0.52061	0.95	P	0.48227	0.571	T	0.67612	-0.5626	9	.	.	.	.	14.8017	0.69922	0.0:0.8497:0.1503:0.0	.	19	Q9Y693	LHFP_HUMAN	F	19	ENSP00000368908:C19F	.	C	-	2	0	LHFP	39073298	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	5.705000	0.68355	1.228000	0.43614	0.655000	0.94253	TGT		0.532	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		14	32	1	0	3.27435e-08	0.00245	4.07221e-08	14	32				
WBP4	11193	broad.mit.edu	37	13	41656988	41656988	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:41656988A>C	ENST00000379487.3	+	10	1469	c.1069A>C	c.(1069-1071)Aaa>Caa	p.K357Q	WBP4_ENST00000542082.1_Missense_Mutation_p.K336Q	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	357					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CCCAGTCTTCAAAAAGAGAAG	0.403																																							uc001uxt.2		NA																	0				breast(2)|kidney(1)	3						c.(1069-1071)AAA>CAA		WW domain-containing binding protein 4							65.0	64.0	65.0					13																	41656988		2203	4300	6503	SO:0001583	missense	11193				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding	g.chr13:41656988A>C	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.1069A>C	13.37:g.41656988A>C	ENSP00000368801:p.Lys357Gln					WBP4_uc010tfd.1_Missense_Mutation_p.K336Q	p.K357Q	NM_007187	NP_009118	O75554	WBP4_HUMAN		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)	10	1182	+		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	357					B7Z4M2|Q32P29	Missense_Mutation	SNP	ENST00000379487.3	37	c.1069A>C	CCDS9375.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347431	0.82022	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	6.06	6.06	0.98353	.	0.044578	0.85682	D	0.000000	T	0.80839	0.4700	M	0.83384	2.64	0.49483	D	0.999794	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.83449	0.0047	9	0.72032	D	0.01	-16.5809	15.1837	0.72982	1.0:0.0:0.0:0.0	.	336;357	B7Z4M2;O75554	.;WBP4_HUMAN	Q	357;336	.	ENSP00000368801:K357Q	K	+	1	0	WBP4	40554988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.768000	0.68858	2.322000	0.78497	0.528000	0.53228	AAA		0.403	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		11	16	0	0	0	0.001368	0	11	16				
LACC1	144811	broad.mit.edu	37	13	44455341	44455341	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:44455341G>A	ENST00000441843.1	+	2	705	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	CCDC122_ENST00000444614.3_5'Flank|CCDC122_ENST00000476570.2_5'Flank|LACC1_ENST00000325686.6_Missense_Mutation_p.E74K	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	74																	AGCTCTCTTGGAAGAATTTGA	0.358																																							uc010acg.2		NA																	0					0						c.(220-222)GAA>AAA		hypothetical protein LOC144811							82.0	81.0	81.0					13																	44455341		2203	4300	6503	SO:0001583	missense	144811							g.chr13:44455341G>A	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.220G>A	13.37:g.44455341G>A	ENSP00000391747:p.Glu74Lys					CCDC122_uc010acf.2_5'Flank|C13orf31_uc001uzf.3_Missense_Mutation_p.E74K	p.E74K	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)	2	705	+		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)	74					A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	c.220G>A	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	G	2.749	-0.260503	0.05791	.	.	ENSG00000179630	ENST00000441843;ENST00000425906;ENST00000325686	T;T	0.41400	1.0;1.0	5.66	0.0878	0.14451	.	0.762656	0.13331	N	0.395917	T	0.18551	0.0445	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	10	0.05436	T	0.98	-19.5073	6.703	0.23234	0.6512:0.1172:0.2316:0.0	.	74	Q8IV20	LACC1_HUMAN	K	74	ENSP00000391747:E74K;ENSP00000317619:E74K	ENSP00000317619:E74K	E	+	1	0	LACC1	43353341	0.034000	0.19679	0.267000	0.24556	0.887000	0.51463	0.361000	0.20267	-0.409000	0.07553	-0.797000	0.03246	GAA		0.358	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		15	18	0	0	0	0.00499	0	15	18				
SLC25A30	253512	broad.mit.edu	37	13	45975271	45975271	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:45975271C>A	ENST00000539591.1	-	6	571	c.408G>T	c.(406-408)aaG>aaT	p.K136N				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	187					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TAAGATGCTTCTTGGTGATGT	0.403																																							uc001vag.2		NA																	0				breast(1)	1						c.(559-561)AAG>AAT		solute carrier family 25, member 30							96.0	92.0	93.0					13																	45975271		2203	4300	6503	SO:0001583	missense	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45975271C>A	AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.408G>T	13.37:g.45975271C>A	ENSP00000443542:p.Lys136Asn					SLC25A30_uc010tfs.1_Missense_Mutation_p.K112N|SLC25A30_uc001vah.2_Missense_Mutation_p.K112N|SLC25A30_uc010tft.1_Missense_Mutation_p.K136N|SLC25A30_uc001vaf.2_Missense_Mutation_p.K43N	p.K187N	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	7	698	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	187			Solcar 2.		B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	37	c.561G>T		.	.	.	.	.	.	.	.	.	.	C	16.33	3.093112	0.56075	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547	D;D;D	0.83755	-1.76;-1.76;-1.76	5.52	3.63	0.41609	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90933	0.7150	M	0.88979	2.995	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90242	0.4287	10	0.87932	D	0	-11.7355	8.8596	0.35249	0.0:0.7979:0.0:0.2021	.	187;187	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	N	187;112;136;136	ENSP00000429168:K187N;ENSP00000443542:K136N;ENSP00000429308:K136N	ENSP00000429308:K136N	K	-	3	2	SLC25A30	44873271	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	2.994000	0.49433	0.671000	0.31185	0.561000	0.74099	AAG		0.403	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736		22	22	1	0	9.39395e-14	0.00632	1.4022e-13	22	22				
ZC3H13	23091	broad.mit.edu	37	13	46559869	46559869	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:46559869T>C	ENST00000242848.4	-	10	1631	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K428R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	428	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTTGAGTCCTTTTCTCTGTC	0.403																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	0				ovary(1)|lung(1)	2						c.(1282-1284)AAG>AGG		zinc finger CCCH-type containing 13							176.0	159.0	165.0					13																	46559869		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559869T>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1283A>G	13.37:g.46559869T>C	ENSP00000242848:p.Lys428Arg					ZC3H13_uc001vas.1_Missense_Mutation_p.K428R|ZC3H13_uc001vat.1_Missense_Mutation_p.K428R	p.K428R	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1289	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	428			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1283A>G		.	.	.	.	.	.	.	.	.	.	T	12.61	1.989235	0.35131	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.32753	2.46;1.44	5.72	5.72	0.89469	.	0.088906	0.48286	D	0.000186	T	0.16599	0.0399	N	0.19112	0.55	0.80722	D	1	B;B	0.17268	0.012;0.021	B;B	0.15484	0.006;0.013	T	0.10567	-1.0624	10	0.07813	T	0.8	.	8.5854	0.33655	0.0:0.1132:0.0:0.8868	.	428;428	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	R	428;428;244	ENSP00000242848:K428R;ENSP00000282007:K428R	ENSP00000242848:K428R	K	-	2	0	ZC3H13	45457870	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.211000	0.51137	2.184000	0.69523	0.482000	0.46254	AAG		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		3	68	0	0	0	0.004672	0	3	68				
HTR2A	3356	broad.mit.edu	37	13	47469908	47469908	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:47469908C>A	ENST00000378688.4	-	1	265	c.134G>T	c.(133-135)tGg>tTg	p.W45L	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Missense_Mutation_p.W45L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	45					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTCGACTGTCCAGTTAAATGC	0.448																																							uc001vbq.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(133-135)TGG>TTG		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						114.0	110.0	111.0					13																	47469908		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47469908C>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.134G>T	13.37:g.47469908C>A	ENSP00000367959:p.Trp45Leu					HTR2A_uc001vbr.2_Intron|HTR2A_uc010acr.2_Missense_Mutation_p.W45L	p.W45L	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	1	268	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	45			Extracellular (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.134G>T	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.142020	0.21205	.	.	ENSG00000102468	ENST00000378688;ENST00000542664	T;T	0.34859	1.34;1.34	5.59	5.59	0.84812	.	0.098984	0.46145	D	0.000303	T	0.21022	0.0506	N	0.17082	0.46	0.43588	D	0.995932	B	0.12013	0.005	B	0.08055	0.003	T	0.06844	-1.0804	10	0.06494	T	0.89	.	14.1236	0.65205	0.1596:0.8404:0.0:0.0	.	45	P28223	5HT2A_HUMAN	L	45	ENSP00000367959:W45L;ENSP00000437737:W45L	ENSP00000367959:W45L	W	-	2	0	HTR2A	46367909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.313000	0.43735	2.625000	0.88918	0.655000	0.94253	TGG		0.448	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		14	25	1	0	2.31682e-05	0.003163	2.61838e-05	14	25				
MLNR	2862	broad.mit.edu	37	13	49796399	49796399	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:49796399C>A	ENST00000218721.1	+	2	1125	c.1125C>A	c.(1123-1125)tcC>tcA	p.S375S	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	375					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CAAGGAAGTCCAGGCCGAGAG	0.542																																							uc010tgj.1		NA																	0					0						c.(1123-1125)TCC>TCA		motilin receptor							73.0	73.0	73.0					13																	49796399		2203	4300	6503	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796399C>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1125C>A	13.37:g.49796399C>A							p.S375S	NM_001507	NP_001498	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1125	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	375			Cytoplasmic (Potential).			Silent	SNP	ENST00000218721.1	37	c.1125C>A	CCDS9414.1																																																																																				0.542	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		39	26	1	0	6.97489e-18	0.004878	1.16439e-17	39	26				
SETDB2	83852	broad.mit.edu	37	13	50064963	50064963	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:50064963T>A	ENST00000317257.8	+	14	2784	c.1959T>A	c.(1957-1959)agT>agA	p.S653R	SETDB2_ENST00000354234.4_Missense_Mutation_p.S641R	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	653	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AACAGCATAGTTGTTGCCCAA	0.328																																							uc001vcz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1957-1959)AGT>AGA		SET domain, bifurcated 2 isoform a							89.0	82.0	84.0					13																	50064963		2203	4299	6502	SO:0001583	missense	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50064963T>A	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1959T>A	13.37:g.50064963T>A	ENSP00000326477:p.Ser653Arg					SETDB2_uc001vda.2_Missense_Mutation_p.S641R	p.S653R	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	14	2865	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	653			SET.		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	c.1959T>A	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186962	0.78789	.	.	ENSG00000136169	ENST00000354234;ENST00000317257	D;D	0.94828	-3.53;-3.53	5.82	2.17	0.27698	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.96380	0.8819	M	0.83953	2.67	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94814	0.7981	10	0.87932	D	0	.	6.7535	0.23499	0.0:0.4543:0.0:0.5457	.	641;653	Q96T68-2;Q96T68	.;SETB2_HUMAN	R	641;653	ENSP00000346175:S641R;ENSP00000326477:S653R	ENSP00000326477:S653R	S	+	3	2	SETDB2	48962964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.805000	0.27112	0.476000	0.27440	0.533000	0.62120	AGT		0.328	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		8	8	0	0	0	0.004482	0	8	8				
THSD1	55901	broad.mit.edu	37	13	52972231	52972231	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:52972231T>C	ENST00000258613.4	-	3	335	c.157A>G	c.(157-159)Aat>Gat	p.N53D	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.N53D|THSD1_ENST00000544466.1_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	53					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)				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)		AGTGTCCCATTAGCACCATCA	0.473																																							uc001vgo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(157-159)AAT>GAT		thrombospondin type I domain-containing 1							142.0	115.0	124.0					13																	52972231		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52972231T>C	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.157A>G	13.37:g.52972231T>C	ENSP00000258613:p.Asn53Asp					THSD1_uc001vgp.2_Missense_Mutation_p.N53D|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	p.N53D	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	702	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	53			Extracellular (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.157A>G	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127946	0.56721	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.19938	2.11;2.27	5.86	4.69	0.59074	.	0.231983	0.45126	N	0.000397	T	0.44623	0.1302	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.989	T	0.40905	-0.9538	10	0.72032	D	0.01	-14.7493	11.0011	0.47607	0.0:0.0723:0.0:0.9277	.	53;53	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	D	53	ENSP00000340650:N53D;ENSP00000258613:N53D	ENSP00000258613:N53D	N	-	1	0	THSD1	51870232	1.000000	0.71417	0.056000	0.19401	0.476000	0.33039	4.897000	0.63231	1.061000	0.40601	0.528000	0.53228	AAT		0.473	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			25	32	0	0	0	0.00278	0	25	32				
PCDH8	5100	broad.mit.edu	37	13	53419026	53419026	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:53419026G>C	ENST00000377942.3	-	3	3085	c.2882C>G	c.(2881-2883)tCt>tGt	p.S961C	PCDH8_ENST00000338862.4_Missense_Mutation_p.S864C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	961					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCAGCGGTCAGAGTGGCCCAG	0.542																																					GBM(36;25 841 9273 49207)	GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(2881-2883)TCT>TGT		protocadherin 8 isoform 1 precursor							93.0	60.0	71.0					13																	53419026		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419026G>C	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2882C>G	13.37:g.53419026G>C	ENSP00000367177:p.Ser961Cys					PCDH8_uc001vhj.2_Missense_Mutation_p.S864C	p.S961C	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3085	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	961			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2882C>G	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154749	0.78114	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.73897	-0.74;-0.79	5.95	5.95	0.96441	.	0.000000	0.42682	D	0.000663	D	0.86464	0.5939	M	0.72894	2.215	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.85176	0.1001	10	0.49607	T	0.09	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	864;961	O95206-2;O95206	.;PCDH8_HUMAN	C	961;864;487;804	ENSP00000367177:S961C;ENSP00000341350:S864C	ENSP00000341350:S864C	S	-	2	0	PCDH8	52317027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.817000	0.96982	0.563000	0.77884	TCT		0.542	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		16	28	0	0	0	0.004007	0	16	28				
PCDH17	27253	broad.mit.edu	37	13	58299198	58299198	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:58299198C>A	ENST00000377918.3	+	4	3276	c.3250C>A	c.(3250-3252)Caa>Aaa	p.Q1084K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1084					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACCTAGTAAGCAACCAAGAGA	0.532																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(3250-3252)CAA>AAA		protocadherin 17 precursor							128.0	124.0	125.0					13																	58299198		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299198C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3250C>A	13.37:g.58299198C>A	ENSP00000367151:p.Gln1084Lys					PCDH17_uc010aec.1_Missense_Mutation_p.Q1083K|PCDH17_uc001vhr.1_Missense_Mutation_p.Q173K	p.Q1084K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	4142	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1084			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3250C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816115	0.32145	.	.	ENSG00000118946	ENST00000377918	T	0.50813	0.73	5.96	5.96	0.96718	.	0.057524	0.64402	D	0.000001	T	0.43433	0.1247	L	0.40543	1.245	0.58432	D	0.999999	B	0.25105	0.118	B	0.24541	0.054	T	0.17868	-1.0355	9	.	.	.	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	1084	O14917	PCD17_HUMAN	K	1084	ENSP00000367151:Q1084K	.	Q	+	1	0	PCDH17	57197199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.769000	0.68865	2.826000	0.97356	0.655000	0.94253	CAA		0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		35	47	1	0	4.4194e-11	0.002836	6.12182e-11	35	47				
DACH1	1602	broad.mit.edu	37	13	72204847	72204847	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:72204847G>T	ENST00000359684.2	-	3	972	c.973C>A	c.(973-975)Ctg>Atg	p.L325M	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Missense_Mutation_p.L325M|DACH1_ENST00000305425.4_Missense_Mutation_p.L325M			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	325	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	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 transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		gctgcTGTCAGACCTTAAAAG	0.353																																							uc010thn.1		NA																	0				breast(1)	1						c.(967-969)CTG>ATG		dachshund homolog 1 isoform a							68.0	60.0	63.0					13																	72204847		1802	4060	5862	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204847G>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.973C>A	13.37:g.72204847G>T	ENSP00000352712:p.Leu325Met					DACH1_uc010tho.1_Missense_Mutation_p.L323M|DACH1_uc010thp.1_Intron	p.L323M	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	4	1390	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	323			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.967C>A		.	.	.	.	.	.	.	.	.	.	G	18.10	3.548167	0.65311	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000359684;ENST00000377826	T;T;T	0.37584	1.19;1.33;1.24	6.16	5.31	0.75309	.	0.142736	0.47852	D	0.000214	T	0.53626	0.1808	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.56263	-0.8008	10	0.72032	D	0.01	-7.5716	9.7749	0.40612	0.2176:0.0:0.7824:0.0	.	323;323	Q9UI36-3;Q9UI36-2	.;.	M	325	ENSP00000304994:L325M;ENSP00000318506:L325M;ENSP00000352712:L325M	ENSP00000304994:L325M	L	-	1	2	DACH1	71102848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.184000	0.42575	1.581000	0.49865	0.650000	0.86243	CTG		0.353	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		20	28	1	0	8.34094e-07	0.008871	9.91443e-07	20	28				
MYCBP2	23077	broad.mit.edu	37	13	77748563	77748563	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:77748563C>T	ENST00000544440.2	-	37	5437	c.5420G>A	c.(5419-5421)gGa>gAa	p.G1807E	MYCBP2_ENST00000407578.2_Missense_Mutation_p.G1845E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1807E|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGTCATTCCTCCATCTCCATT	0.438																																							uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(5419-5421)GGA>GAA		MYC binding protein 2							212.0	178.0	189.0					13																	77748563		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77748563C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5420G>A	13.37:g.77748563C>T	ENSP00000444596:p.Gly1807Glu					MYCBP2_uc010aev.2_Missense_Mutation_p.G1211E	p.G1807E	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	38	5511	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1807						Missense_Mutation	SNP	ENST00000544440.2	37	c.5420G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.140104	0.94560	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31510	1.49;1.49;1.49	5.45	5.45	0.79879	PHR (1);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46233	-0.9206	10	0.72032	D	0.01	.	19.6416	0.95760	0.0:1.0:0.0:0.0	.	1807	O75592	MYCB2_HUMAN	E	1807;1845;1807	ENSP00000349892:G1807E;ENSP00000384288:G1845E;ENSP00000444596:G1807E	ENSP00000349892:G1807E	G	-	2	0	MYCBP2	76646564	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.776000	0.85560	2.720000	0.93068	0.563000	0.77884	GGA		0.438	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		18	27	0	0	0	0.007413	0	18	27				
SLITRK5	26050	broad.mit.edu	37	13	88327910	88327910	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:88327910C>G	ENST00000325089.6	+	2	486	c.267C>G	c.(265-267)tcC>tcG	p.S89S	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	89					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTTGTTGTCCGGAAACCTTT	0.458																																							uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(265-267)TCC>TCG		SLIT and NTRK-like family, member 5 precursor							163.0	168.0	166.0					13																	88327910		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88327910C>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.267C>G	13.37:g.88327910C>G						SLITRK5_uc010tic.1_Intron	p.S89S	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	486	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		89			LRR 1.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.267C>G	CCDS9465.1																																																																																				0.458	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			58	83	0	0	0	0.00361	0	58	83				
SLITRK5	26050	broad.mit.edu	37	13	88329734	88329734	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:88329734C>A	ENST00000325089.6	+	2	2310	c.2091C>A	c.(2089-2091)agC>agA	p.S697R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S456R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	697					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGAACCAGAGCGACCACACCA	0.612																																							uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2089-2091)AGC>AGA		SLIT and NTRK-like family, member 5 precursor							120.0	126.0	124.0					13																	88329734		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329734C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2091C>A	13.37:g.88329734C>A	ENSP00000366283:p.Ser697Arg					SLITRK5_uc010tic.1_Missense_Mutation_p.S456R	p.S697R	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2310	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		697			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2091C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881764	0.33255	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57907	0.37;0.7	5.3	3.56	0.40772	.	0.198326	0.51477	D	0.000090	T	0.35189	0.0923	N	0.25201	0.72	0.42845	D	0.994061	B;B	0.20261	0.043;0.013	B;B	0.19946	0.027;0.008	T	0.11591	-1.0581	9	.	.	.	-17.6479	10.2788	0.43526	0.0:0.8328:0.0:0.1672	.	456;697	B4DSH5;O94991	.;SLIK5_HUMAN	R	697;456	ENSP00000366283:S697R;ENSP00000442244:S456R	.	S	+	3	2	SLITRK5	87127735	0.224000	0.23674	1.000000	0.80357	0.998000	0.95712	-0.362000	0.07602	1.230000	0.43646	0.555000	0.69702	AGC		0.612	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			21	29	1	0	1.10513e-12	0.002299	1.60419e-12	21	29				
HS6ST3	266722	broad.mit.edu	37	13	97485261	97485261	+	Missense_Mutation	SNP	G	G	A	rs368419692		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:97485261G>A	ENST00000376705.2	+	2	1249	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	409					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCAGCTTTACGAGTATGCAAA	0.572																																							uc001vmw.2		NA																	0				ovary(1)|skin(1)	2						c.(1225-1227)GAG>AAG		heparan sulfate 6-O-sulfotransferase 3		G	LYS/GLU	0,4406		0,0,2203	98.0	91.0	94.0		1225	5.9	0.1	13		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	HS6ST3	NM_153456.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	409/472	97485261	1,13005	2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97485261G>A	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1225G>A	13.37:g.97485261G>A	ENSP00000365895:p.Glu409Lys						p.E409K	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			2	1249	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		409			Lumenal (Potential).		Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.1225G>A	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506790	0.85282	0.0	1.16E-4	ENSG00000185352	ENST00000376705	T	0.74315	-0.83	5.89	5.89	0.94794	.	0.056075	0.64402	D	0.000001	T	0.82033	0.4949	L	0.53249	1.67	0.80722	D	1	D	0.67145	0.996	P	0.58391	0.838	T	0.79396	-0.1821	10	0.38643	T	0.18	-3.4413	20.2566	0.98424	0.0:0.0:1.0:0.0	.	409	Q8IZP7	H6ST3_HUMAN	K	409	ENSP00000365895:E409K	ENSP00000365895:E409K	E	+	1	0	HS6ST3	96283262	1.000000	0.71417	0.123000	0.21794	0.895000	0.52256	7.986000	0.88173	2.793000	0.96121	0.561000	0.74099	GAG		0.572	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		24	45	0	0	0	0.00278	0	24	45				
DOCK9	23348	broad.mit.edu	37	13	99505739	99505739	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:99505739C>A	ENST00000376460.1	-	35	3949	c.3869G>T	c.(3868-3870)cGc>cTc	p.R1290L	DOCK9_ENST00000448493.2_Missense_Mutation_p.R1302L|DOCK9_ENST00000339416.2_Missense_Mutation_p.R1291L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1291					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTATCACAGCGAACCACGGA	0.378																																							uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(3871-3873)CGC>CTC		dedicator of cytokinesis 9 isoform a							231.0	225.0	227.0					13																	99505739		1862	4096	5958	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99505739C>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3869G>T	13.37:g.99505739C>A	ENSP00000365643:p.Arg1290Leu					DOCK9_uc001vnw.2_Missense_Mutation_p.R1290L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1291L|DOCK9_uc010tip.1_5'UTR|DOCK9_uc010tiq.1_Missense_Mutation_p.R269L	p.R1291L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			35	3927	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1291					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.3872G>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531840	0.85706	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000449796	T;T;T;T	0.49720	2.27;2.35;1.86;0.77	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.78049	2.395	0.80722	D	1	P;B;B	0.42078	0.77;0.029;0.046	B;B;B	0.39805	0.31;0.046;0.031	T	0.62310	-0.6881	10	0.87932	D	0	-16.8265	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1291;1290;1291	A8MWZ5;Q9BZ29-5;Q9BZ29	.;.;DOCK9_HUMAN	L	1290;1291;1291;1291;1290;221;1291;1302;42	ENSP00000365643:R1290L;ENSP00000341086:R1291L;ENSP00000401958:R1302L;ENSP00000403528:R42L	ENSP00000341086:R1291L	R	-	2	0	DOCK9	98303740	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.437000	0.80417	2.937000	0.99478	0.650000	0.86243	CGC		0.378	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		62	84	1	0	6.05568e-20	0.00361	1.05548e-19	62	84				
NALCN	259232	broad.mit.edu	37	13	102051436	102051437	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:102051436_102051437TG>CT	ENST00000251127.6	-	2	122_123	c.41_42CA>AG	c.(40-42)cCA>cAG	p.P14Q	NALCN_ENST00000376200.5_Missense_Mutation_p.P14Q|NALCN_ENST00000376196.3_Missense_Mutation_p.P14Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	14					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTCAGTGACTGGCTGGGCTTC	0.455																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(40-42)CCA>CAG		voltage gated channel like 1																																				SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102051436_102051437TG>CT	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.41_42delinsCT	13.37:g.102051436_102051437delinsCT	ENSP00000251127:p.Pro14Gln					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P14Q|NALCN_uc001vpa.2_Missense_Mutation_p.P14Q	p.P14Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			2	230_231	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		14			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	DNP	ENST00000251127.6	37	c.41_42CA>AG	CCDS9498.1																																																																																				0.455	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		13	24	0	0	0	0.004672	0	13	24				
SLC10A2	6555	broad.mit.edu	37	13	103718339	103718339	+	Silent	SNP	C	C	A	rs200682819		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:103718339C>A	ENST00000245312.3	-	1	857	c.261G>T	c.(259-261)tcG>tcT	p.S87S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	87					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CAAAGGCCACCGACAGGATGA	0.522																																							uc001vpy.3		NA																	0				ovary(3)|skin(1)	4						c.(259-261)TCG>TCT		solute carrier family 10 (sodium/bile acid							107.0	102.0	104.0					13																	103718339		2203	4300	6503	SO:0001819	synonymous_variant	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103718339C>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.261G>T	13.37:g.103718339C>A							p.S87S	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			1	858	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		87			Helical; (Potential).		A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	c.261G>T	CCDS9506.1																																																																																				0.522	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			30	37	1	0	8.53417e-09	0.002836	1.0812e-08	30	37				
DAOA	267012	broad.mit.edu	37	13	106124955	106124955	+	Missense_Mutation	SNP	G	G	T	rs200951630		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:106124955G>T	ENST00000375936.3	+	3	248	c.202G>T	c.(202-204)Ggc>Tgc	p.G68C	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	68					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GCATGAGGACGGCTATTTGGA	0.413																																							uc001vqb.2		NA																	0					0						c.(202-204)GGC>TGC		D-amino acid oxidase activator isoform 1							176.0	175.0	175.0					13																	106124955		1930	4124	6054	SO:0001583	missense	267012					Golgi apparatus		g.chr13:106124955G>T	AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.202G>T	13.37:g.106124955G>T	ENSP00000365103:p.Gly68Cys					DAOA_uc010tjf.1_5'UTR|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Silent_p.T3T|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	p.G68C	NM_172370	NP_758958	P59103	DAOA_HUMAN			3	476	+	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		68					A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	ENST00000375936.3	37	c.202G>T	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	G	7.334	0.619446	0.14129	.	.	ENSG00000182346	ENST00000375936	T	0.32988	1.43	2.17	-3.85	0.04243	.	.	.	.	.	T	0.16257	0.0391	N	0.14661	0.345	0.09310	N	1	P	0.41978	0.767	B	0.42827	0.399	T	0.14699	-1.0463	9	0.87932	D	0	.	3.6044	0.08037	0.3201:0.0:0.494:0.186	.	68	P59103	DAOA_HUMAN	C	68	ENSP00000365103:G68C	ENSP00000365103:G68C	G	+	1	0	DAOA	104922956	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.494000	0.02296	-0.900000	0.03896	-0.351000	0.07748	GGC		0.413	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370		11	22	1	0	7.03913e-09	0.001368	8.96576e-09	11	22				
COL4A2	1284	broad.mit.edu	37	13	111138059	111138059	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:111138059G>T	ENST00000360467.5	+	34	3389	c.3083G>T	c.(3082-3084)aGg>aTg	p.R1028M		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1028	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGCCTGGGAGGCCCGGCCAC	0.627																																							uc001vqx.2		NA																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(3082-3084)AGG>ATG		alpha 2 type IV collagen preproprotein							45.0	53.0	50.0					13																	111138059		1891	4112	6003	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111138059G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3083G>T	13.37:g.111138059G>T	ENSP00000353654:p.Arg1028Met						p.R1028M	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		34	3372	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1028			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.3083G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549313	0.27652	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.11	-5.6	0.02497	.	1.003240	0.08034	N	0.993958	D	0.91593	0.7344	L	0.35854	1.095	0.09310	N	1	D	0.59767	0.986	P	0.61874	0.895	D	0.84020	0.0353	10	0.44086	T	0.13	.	5.7082	0.17921	0.4345:0.0:0.3532:0.2123	.	1028	P08572	CO4A2_HUMAN	M	1028	ENSP00000353654:R1028M	ENSP00000257309:R1028M	R	+	2	0	COL4A2	109936060	0.000000	0.05858	0.091000	0.20842	0.692000	0.40212	-0.995000	0.03712	-0.763000	0.04658	0.563000	0.77884	AGG		0.627	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		24	24	1	0	9.95505e-16	0.002299	1.56641e-15	24	24				
RASA3	22821	broad.mit.edu	37	13	114817632	114817632	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:114817632T>A	ENST00000334062.7	-	3	295		c.e3-2		RASA3_ENST00000542651.1_Splice_Site|RASA3_ENST00000389544.4_Splice_Site	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3						calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TAAAACGGGCTAGTGAGACAA	0.483																																							uc001vui.2		NA																	0				lung(3)|skin(1)	4						c.e3-1		RAS p21 protein activator 3							53.0	51.0	51.0					13																	114817632		2202	4300	6502	SO:0001630	splice_region_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114817632T>A		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.174-2A>T	13.37:g.114817632T>A						RASA3_uc010tkk.1_Splice_Site_p.C26_splice|RASA3_uc001vuj.2_Splice_Site|RASA3_uc010tkl.1_Splice_Site	p.C58_splice	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		3	305	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)						A6NL15|F8W6X8|Q8IUY2	Splice_Site	SNP	ENST00000334062.7	37	c.174_splice	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.879589	0.33162	.	.	ENSG00000185989	ENST00000334062;ENST00000389544;ENST00000542651	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6384	0.62235	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASA3	113835734	1.000000	0.71417	0.903000	0.35520	0.021000	0.10359	6.386000	0.73186	1.858000	0.53909	0.460000	0.39030	.		0.483	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368	Intron	7	9	0	0	0	0.001984	0	7	9				
OR4K15	81127	broad.mit.edu	37	14	20444383	20444383	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:20444383C>A	ENST00000305051.5	+	1	781	c.706C>A	c.(706-708)Ctc>Atc	p.L236I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L236I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGTTCCTTTCTCCTCTTGGT	0.463																																							uc010tkx.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(706-708)CTC>ATC		olfactory receptor, family 4, subfamily K,							123.0	119.0	121.0					14																	20444383		2203	4298	6501	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444383C>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.706C>A	14.37:g.20444383C>A	ENSP00000304077:p.Leu236Ile						p.L236I	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	706	+	all_cancers(95;0.00108)		236			Helical; Name=5; (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.706C>A	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.126083	0.00342	.	.	ENSG00000169488	ENST00000305051	T	0.38401	1.14	4.08	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000354	T	0.16557	0.0398	N	0.20328	0.56	0.09310	N	1	B	0.16802	0.019	B	0.21360	0.034	T	0.30621	-0.9972	10	0.05833	T	0.94	.	4.9413	0.13967	0.2104:0.6787:0.0:0.1109	.	236	Q8NH41	OR4KF_HUMAN	I	236	ENSP00000304077:L236I	ENSP00000304077:L236I	L	+	1	0	OR4K15	19514223	0.000000	0.05858	0.483000	0.27378	0.284000	0.27059	-1.150000	0.03178	2.093000	0.63338	0.585000	0.79938	CTC		0.463	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			34	51	1	0	3.86903e-22	0.002836	6.95644e-22	34	51				
OR4K13	390433	broad.mit.edu	37	14	20502144	20502144	+	Nonsense_Mutation	SNP	G	G	T	rs201842923		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:20502144G>T	ENST00000315693.2	-	1	775	c.774C>A	c.(772-774)taC>taA	p.Y258*	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGGCCAGACGTAGATAAAGA	0.403																																							uc010tkz.1		NA																	0				ovary(2)	2						c.(772-774)TAC>TAA		olfactory receptor, family 4, subfamily K,							96.0	87.0	90.0					14																	20502144		2203	4300	6503	SO:0001587	stop_gained	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502144G>T		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.774C>A	14.37:g.20502144G>T	ENSP00000319322:p.Tyr258*						p.Y258*	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	774	-	all_cancers(95;0.00108)		258			Helical; Name=6; (Potential).		Q6IF13	Nonsense_Mutation	SNP	ENST00000315693.2	37	c.774C>A	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	6.869	0.529629	0.13127	.	.	ENSG00000176253	ENST00000315693	.	.	.	3.46	-2.01	0.07410	.	0.000000	0.35646	U	0.003077	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6606	0.34091	0.6232:0.0:0.3768:0.0	.	.	.	.	X	258	.	ENSP00000319322:Y258X	Y	-	3	2	OR4K13	19571984	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	-0.229000	0.09098	-0.286000	0.09076	-1.541000	0.00910	TAC		0.403	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			12	19	1	0	3.07112e-06	0.000978	3.59348e-06	12	19				
TMEM55B	90809	broad.mit.edu	37	14	20926740	20926740	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:20926740T>A	ENST00000250489.4	-	7	1098	c.812A>T	c.(811-813)cAc>cTc	p.H271L	TMEM55B_ENST00000554028.1_Missense_Mutation_p.H104L|TMEM55B_ENST00000398020.4_Missense_Mutation_p.H278L			Q86T03	TM55B_HUMAN	transmembrane protein 55B	271						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CTGGACAGGGTGGCTGACCTT	0.572																																							uc001vxl.2		NA																	0					0						c.(811-813)CAC>CTC		transmembrane protein 55B isoform 2							67.0	61.0	63.0					14																	20926740		2203	4300	6503	SO:0001583	missense	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20926740T>A	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.812A>T	14.37:g.20926740T>A	ENSP00000250489:p.His271Leu					TMEM55B_uc001vxk.2_Missense_Mutation_p.H278L	p.H271L	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	7	965	-	all_cancers(95;0.00123)	all_lung(585;0.235)	271					B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	ENST00000250489.4	37	c.812A>T	CCDS9551.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.764228	0.49574	.	.	ENSG00000165782	ENST00000250489;ENST00000398020;ENST00000554028	.	.	.	4.8	4.8	0.61643	.	0.120349	0.56097	D	0.000029	T	0.37293	0.0998	N	0.14661	0.345	0.46260	D	0.998957	B;B	0.32160	0.244;0.358	B;B	0.32864	0.055;0.154	T	0.41556	-0.9502	9	0.66056	D	0.02	-5.5296	13.45	0.61165	0.0:0.0:0.0:1.0	.	271;278	Q86T03;Q86T03-2	TM55B_HUMAN;.	L	271;278;104	.	ENSP00000250489:H271L	H	-	2	0	TMEM55B	19996580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.976000	0.76135	2.017000	0.59298	0.460000	0.39030	CAC		0.572	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	NM_144568		13	15	0	0	0	0.00245	0	13	15				
MYH6	4624	broad.mit.edu	37	14	23868097	23868097	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:23868097G>A	ENST00000356287.3	-	14	1760	c.1731C>T	c.(1729-1731)caC>caT	p.H577H	MYH6_ENST00000405093.3_Silent_p.H577H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	577	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAGGGAGAAGTGGGCTTCCT	0.542																																							uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(1729-1731)CAC>CAT		myosin heavy chain 6							240.0	183.0	202.0					14																	23868097		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:23868097G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1731C>T	14.37:g.23868097G>A							p.H577H	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	15	1798	-	all_cancers(95;2.54e-05)		577			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1731C>T	CCDS9600.1																																																																																				0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			44	11	0	0	0	0.009718	0	44	11				
FOXG1	2290	broad.mit.edu	37	14	29237535	29237535	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:29237535G>A	ENST00000313071.4	+	1	1249	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	FOXG1_ENST00000382535.3_Silent_p.L350L	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	350					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGAACTCGCTGGGCAACAACC	0.667																																							uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(1048-1050)CTG>CTA		forkhead box G1							99.0	91.0	94.0					14																	29237535		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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.chr14:29237535G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1050G>A	14.37:g.29237535G>A							p.L350L	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1249	+			350					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.1050G>A	CCDS9636.1																																																																																				0.667	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			67	9	0	0	0	0.00361	0	67	9				
SSTR1	6751	broad.mit.edu	37	14	38678810	38678810	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:38678810G>A	ENST00000267377.2	+	3	833	c.216G>A	c.(214-216)ggG>ggA	p.G72G		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	72					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCCTGGTGGGGCTGTGTGGGA	0.567																																							uc001wul.1		NA																	0				central_nervous_system(3)|ovary(1)|lung(1)	5						c.(214-216)GGG>GGA		somatostatin receptor 1	Octreotide(DB00104)						147.0	133.0	138.0					14																	38678810		2203	4300	6503	SO:0001819	synonymous_variant	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678810G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.216G>A	14.37:g.38678810G>A						SSTR1_uc010amu.1_Intron	p.G72G	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	833	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		72			Helical; Name=1; (Potential).			Silent	SNP	ENST00000267377.2	37	c.216G>A	CCDS9666.1																																																																																				0.567	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			43	4	0	0	0	0.002522	0	43	4				
CLEC14A	161198	broad.mit.edu	37	14	38724269	38724269	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:38724269G>T	ENST00000342213.2	-	1	1305	c.959C>A	c.(958-960)cCa>cAa	p.P320Q		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	320						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GACCCTGATTGGCCATGTTCT	0.612																																							uc001wum.1		NA																	0				ovary(3)|skin(1)	4						c.(958-960)CCA>CAA		C-type lectin domain family 14, member A							79.0	76.0	77.0					14																	38724269		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724269G>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.959C>A	14.37:g.38724269G>T	ENSP00000353013:p.Pro320Gln						p.P320Q	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1306	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		320			Extracellular (Potential).		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.959C>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251761	0.39797	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.74002	-0.8	4.16	4.16	0.48862	.	1.151890	0.06733	N	0.776957	T	0.70780	0.3263	N	0.19112	0.55	0.09310	N	1	B	0.16603	0.018	B	0.38683	0.279	T	0.61739	-0.7001	10	0.51188	T	0.08	0.0122	12.2664	0.54681	0.0:0.0:1.0:0.0	.	320	Q86T13	CLC14_HUMAN	Q	320;85	ENSP00000353013:P320Q	ENSP00000353013:P320Q	P	-	2	0	CLEC14A	37794020	0.036000	0.19791	0.027000	0.17364	0.007000	0.05969	2.709000	0.47160	2.615000	0.88500	0.655000	0.94253	CCA		0.612	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		60	11	1	0	7.73544e-29	0.00361	1.51309e-28	60	11				
SAMD4A	23034	broad.mit.edu	37	14	55231218	55231218	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:55231218G>T	ENST00000554335.1	+	8	2219	c.1556G>T	c.(1555-1557)aGt>aTt	p.S519I	SAMD4A_ENST00000392067.3_Missense_Mutation_p.S519I|SAMD4A_ENST00000357634.3_Missense_Mutation_p.S518I|SAMD4A_ENST00000555192.1_Missense_Mutation_p.S110I|SAMD4A_ENST00000251091.5_Missense_Mutation_p.S431I			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	519					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GAAAATATAAGTTCCTATTTA	0.353																																							uc001xbb.2		NA																	0					0						c.(1552-1554)AGT>ATT		sterile alpha motif domain containing 4 isoform							156.0	164.0	162.0					14																	55231218		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55231218G>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1556G>T	14.37:g.55231218G>T	ENSP00000452535:p.Ser519Ile					SAMD4A_uc001xbc.2_Missense_Mutation_p.S430I|SAMD4A_uc001xbg.2_Missense_Mutation_p.S110I	p.S518I	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			7	1554	+			519					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.1553G>T	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660593	0.67586	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	4.78	4.78	0.61160	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	L	0.56769	1.78	0.58432	D	0.999994	B;D;B	0.53885	0.415;0.963;0.172	B;P;B	0.52672	0.219;0.706;0.034	T	0.68330	-0.5437	9	0.48119	T	0.1	-9.3567	17.9997	0.89195	0.0:0.0:1.0:0.0	.	110;431;519	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	I	519;519;431;430;518;110	.	ENSP00000251091:S148I	S	+	2	0	SAMD4A	54300968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.246000	0.95438	2.492000	0.84095	0.514000	0.50259	AGT		0.353	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		110	18	1	0	4.50961e-65	0.00361	9.67122e-65	110	18				
TMEM260	54916	broad.mit.edu	37	14	57078985	57078985	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:57078985G>T	ENST00000261556.6	+	7	961	c.839G>T	c.(838-840)aGt>aTt	p.S280I	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.S280I|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	280						integral component of membrane (GO:0016021)											ATAGGATCCAGTATGTCTGAA	0.299																																							uc001xcm.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(838-840)AGT>ATT		hypothetical protein LOC54916							135.0	133.0	134.0					14																	57078985		2203	4300	6503	SO:0001583	missense	54916					integral to membrane		g.chr14:57078985G>T	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.839G>T	14.37:g.57078985G>T	ENSP00000261556:p.Ser280Ile					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.S280I|C14orf101_uc010aot.1_Missense_Mutation_p.S280I|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	p.S280I	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	7	961	+			280					A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.839G>T	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070588	0.76301	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.49139	1.39;0.79	5.58	5.58	0.84498	.	0.123909	0.85682	D	0.000000	T	0.55178	0.1904	M	0.64997	1.995	0.80722	D	1	D	0.55605	0.972	P	0.48227	0.571	T	0.55528	-0.8127	10	0.45353	T	0.12	-14.8906	18.0974	0.89494	0.0:0.0:1.0:0.0	.	280	Q9NX78	CN101_HUMAN	I	280	ENSP00000261556:S280I;ENSP00000441934:S280I	ENSP00000261556:S280I	S	+	2	0	C14orf101	56148738	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.771000	0.47670	2.782000	0.95742	0.561000	0.74099	AGT		0.299	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		46	4	1	0	1.47857e-17	0.00361	2.44824e-17	46	4				
KCNH5	27133	broad.mit.edu	37	14	63447595	63447595	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:63447595C>G	ENST00000322893.7	-	6	1205	c.937G>C	c.(937-939)Gat>Cat	p.D313H	KCNH5_ENST00000394964.2_Missense_Mutation_p.D255H|KCNH5_ENST00000394968.1_Missense_Mutation_p.D255H|KCNH5_ENST00000420622.2_Missense_Mutation_p.D313H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	313					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTACCTCATCCACATTTTCA	0.358																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(937-939)GAT>CAT		potassium voltage-gated channel, subfamily H,							56.0	50.0	52.0					14																	63447595		2200	4295	6495	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447595C>G	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.937G>C	14.37:g.63447595C>G	ENSP00000321427:p.Asp313His					KCNH5_uc001xfy.2_Missense_Mutation_p.D313H|KCNH5_uc001xfz.1_Missense_Mutation_p.D255H|KCNH5_uc001xga.2_Missense_Mutation_p.D255H	p.D313H	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	988	-			313			Extracellular (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.937G>C	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763987	0.69878	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.54	5.54	0.83059	Ion transport (1);	0.047935	0.85682	D	0.000000	D	0.99032	0.9669	M	0.85542	2.76	0.80722	D	1	P;B;B;D	0.71674	0.571;0.1;0.1;0.998	B;B;B;D	0.73708	0.213;0.115;0.078;0.981	D	0.99755	1.1019	10	0.72032	D	0.01	.	19.4888	0.95042	0.0:1.0:0.0:0.0	.	255;255;313;313	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	H	313;313;255;255	ENSP00000321427:D313H;ENSP00000395439:D313H;ENSP00000378419:D255H;ENSP00000378415:D255H	ENSP00000321427:D313H	D	-	1	0	KCNH5	62517348	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.028000	0.70889	2.607000	0.88179	0.585000	0.79938	GAT		0.358	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		20	2	0	0	0	0.002299	0	20	2				
SYNE2	23224	broad.mit.edu	37	14	64447428	64447428	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:64447428T>A	ENST00000344113.4	+	15	1838	c.1626T>A	c.(1624-1626)tgT>tgA	p.C542*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.C542*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.C542*|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	542					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)			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)		TTCAAAAATGTGGAGAAATTT	0.289																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(1624-1626)TGT>TGA		spectrin repeat containing, nuclear envelope 2							38.0	36.0	37.0					14																	64447428		1789	4051	5840	SO:0001587	stop_gained	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.chr14:64447428T>A	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.1626T>A	14.37:g.64447428T>A	ENSP00000341781:p.Cys542*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.C542*	p.C542*	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)	15	1856	+			542			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.1626T>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	38	6.875503	0.97904	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6288	0.68640	0.0:0.0:0.0:1.0	.	.	.	.	X	542	.	ENSP00000261678:C542X	C	+	3	2	SYNE2	63517181	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.361000	0.44160	2.270000	0.75569	0.482000	0.46254	TGT		0.289	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		9	3	0	0	0	0.004482	0	9	3				
YBX1P1	50631	broad.mit.edu	37	14	66479676	66479677	+	RNA	DNP	GG	GG	TT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:66479676_66479677GG>TT	ENST00000458915.1	-	0	0																											AAGTTGCGGCGGTACCGACGTT	0.525																																							uc001xit.2		NA																	0					NA						c.(829-834)TACCGC>TAAAGC		SubName: Full=Nuclease sensitive element binding protein-1;																																						0							g.chr14:66479676_66479677GG>TT																												Exception_encountered	14.37:g.66479676_66479677delinsTT							p.277_278YR>*S							1	956_957	-									Nonsense_Mutation	DNP	ENST00000458915.1	37	c.831_832CC>AA																																																																																					0.525	AL391261.1-201	NOVEL	basic	miRNA	miRNA				17	7	0	0	0	0.004672	0	17	7				
ELMSAN1	91748	broad.mit.edu	37	14	74206148	74206148	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:74206148C>T	ENST00000286523.5	-	2	1346	c.564G>A	c.(562-564)caG>caA	p.Q188Q	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Silent_p.Q188Q	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CTACCTCCAGCTGCACCTTCT	0.607																																							uc001xot.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(562-564)CAG>CAA		hypothetical protein LOC91748							48.0	54.0	52.0					14																	74206148		2203	4300	6503	SO:0001819	synonymous_variant	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74206148C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.564G>A	14.37:g.74206148C>T						C14orf43_uc001xou.2_Silent_p.Q188Q|C14orf43_uc010tud.1_Silent_p.Q188Q|C14orf43_uc010arw.2_RNA	p.Q188Q	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	2	1347	-			188					Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	c.564G>A	CCDS9819.1																																																																																				0.607	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		60	16	0	0	0	0.00361	0	60	16				
CATSPERB	79820	broad.mit.edu	37	14	92136302	92136302	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:92136302G>T	ENST00000256343.3	-	14	1299	c.1143C>A	c.(1141-1143)gcC>gcA	p.A381A		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	381					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CAGAGGCAATGGCAGTTTTCC	0.368																																							uc001xzs.1		NA																	0				breast(2)|skin(2)|ovary(1)	5						c.(1141-1143)GCC>GCA		cation channel, sperm-associated, beta							110.0	115.0	113.0					14																	92136302		2203	4300	6503	SO:0001819	synonymous_variant	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92136302G>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1143C>A	14.37:g.92136302G>T						CATSPERB_uc010aub.1_5'UTR	p.A381A	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			14	1283	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	381					A0AV51	Silent	SNP	ENST00000256343.3	37	c.1143C>A	CCDS32142.1																																																																																				0.368	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		14	24	1	0	1.56452e-12	0.007413	2.25723e-12	14	24				
LINC00521	256369	broad.mit.edu	37	14	94469586	94469586	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:94469586G>T	ENST00000444118.1	+	0	1164					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		AGATCCGGCTGTGTCAGCTGC	0.562																																							uc001ycg.1		NA																	0					0						c.(181-183)CTG>CTT		Homo sapiens cDNA FLJ40422 fis, clone TESTI2038858.							78.0	65.0	69.0					14																	94469586		2203	4300	6503			256369							g.chr14:94469586G>T	BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94469586G>T						C14orf48_uc001ycf.2_RNA|C14orf48_uc010twp.1_RNA	p.L61L	NR_024184					Epithelial(152;0.114)|all cancers(159;0.191)|COAD - Colon adenocarcinoma(157;0.208)	5	789	+								Q8N7S1	Silent	SNP	ENST00000444118.1	37	c.183G>T																																																																																					0.562	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1			18	3	1	0	5.03518e-11	0.007413	6.96126e-11	18	3				
RTL1	388015	broad.mit.edu	37	14	101350919	101350919	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:101350919C>T	ENST00000534062.1	-	1	265	c.207G>A	c.(205-207)ctG>ctA	p.L69L	MIR432_ENST00000606207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	69					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATCAGTGGGCAGCTCTTCCA	0.607																																							uc010txj.1		NA																	0				pancreas(1)	1						c.(205-207)CTG>CTA		retrotransposon-like 1							59.0	54.0	56.0					14																	101350919		1568	3582	5150	SO:0001819	synonymous_variant	388015							g.chr14:101350919C>T		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.207G>A	14.37:g.101350919C>T						uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	p.L69L	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN			1	266	-			69					E9PKS8	Silent	SNP	ENST00000534062.1	37	c.207G>A	CCDS53910.1																																																																																				0.607	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		29	6	0	0	0	0.007291	0	29	6				
DIO3	1735	broad.mit.edu	37	14	102028296	102028296	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:102028296G>T	ENST00000510508.4	+	1	609	c.463G>T	c.(463-465)Gcg>Tcg	p.A155S	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.A129S			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	155					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCTCGACTACGCGCAAGGGAA	0.627																																							uc010txq.1		NA																	0		p.A129V(1)		ovary(1)|central_nervous_system(1)|skin(1)	3						c.(385-387)GCG>TCG		deiodinase, iodothyronine, type III							33.0	38.0	37.0					14																	102028296		2063	4201	6264	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028296G>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.463G>T	14.37:g.102028296G>T	ENSP00000427336:p.Ala155Ser					DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.A129S	NM_001362	NP_001353	P55073	IOD3_HUMAN			1	609	+		all_neural(303;0.185)	129			Extracellular (Potential).		G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.385G>T	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342679	0.41498	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.32272	1.46;1.46	3.51	3.51	0.40186	Thioredoxin-like fold (1);	0.102467	0.37577	U	0.002034	T	0.23649	0.0572	L	0.59912	1.85	0.26974	N	0.96552	P	0.39964	0.697	B	0.33890	0.172	T	0.11991	-1.0565	10	0.17832	T	0.49	.	9.7498	0.40468	0.0:0.0:0.7936:0.2063	.	129	P55073	IOD3_HUMAN	S	129;155	ENSP00000352273:A129S;ENSP00000427336:A155S	ENSP00000352273:A155S	A	+	1	0	DIO3;AL049836.1	101098049	0.999000	0.42202	0.746000	0.31095	0.983000	0.72400	5.059000	0.64306	1.799000	0.52666	0.462000	0.41574	GCG		0.627	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		33	5	1	0	3.86903e-22	0.002836	6.95644e-22	33	5				
TECPR2	9895	broad.mit.edu	37	14	102874864	102874864	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:102874864A>G	ENST00000359520.7	+	4	614	c.388A>G	c.(388-390)Att>Gtt	p.I130V	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.I130V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	130					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAAAAATAGCATTACAGCTCT	0.378																																							uc001ylw.1		NA																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(388-390)ATT>GTT		tectonin beta-propeller repeat containing 2							124.0	127.0	126.0					14																	102874864		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102874864A>G	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.388A>G	14.37:g.102874864A>G	ENSP00000352510:p.Ile130Val					TECPR2_uc010txw.1_Missense_Mutation_p.I130V|TECPR2_uc010awl.2_Missense_Mutation_p.I130V|TECPR2_uc010txx.1_Intron	p.I130V	NM_014844	NP_055659	O15040	TCPR2_HUMAN			4	536	+			130			WD 2.		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.388A>G	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.705151	0.30232	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.01203	5.18	5.82	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046858	0.85682	D	0.000000	T	0.01254	0.0041	L	0.28504	0.86	0.32480	N	0.541635	B;B;B	0.19935	0.001;0.014;0.04	B;B;B	0.17098	0.004;0.015;0.017	T	0.29671	-1.0004	10	0.30854	T	0.27	.	11.8241	0.52256	0.9315:0.0:0.0684:0.0	.	130;130;130	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	V	130	ENSP00000352510:I130V	ENSP00000352510:I130V	I	+	1	0	TECPR2	101944617	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.294000	0.51787	1.035000	0.39972	0.455000	0.32223	ATT		0.378	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		70	8	0	0	0	0.00361	0	70	8				
TECPR2	9895	broad.mit.edu	37	14	102918939	102918939	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:102918939G>T	ENST00000359520.7	+	16	3841	c.3615G>T	c.(3613-3615)tgG>tgT	p.W1205C	TECPR2_ENST00000558678.1_Missense_Mutation_p.W1205C	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1205					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCATGCACTGGACCAGGCTGG	0.647																																							uc001ylw.1		NA																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(3613-3615)TGG>TGT		tectonin beta-propeller repeat containing 2							16.0	13.0	14.0					14																	102918939		2194	4287	6481	SO:0001583	missense	9895						protein binding	g.chr14:102918939G>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3615G>T	14.37:g.102918939G>T	ENSP00000352510:p.Trp1205Cys					TECPR2_uc010awl.2_Missense_Mutation_p.W1205C|TECPR2_uc010txx.1_Missense_Mutation_p.W368C	p.W1205C	NM_014844	NP_055659	O15040	TCPR2_HUMAN			16	3763	+			1205			TECPR 3.		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.3615G>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743756	0.89663	.	.	ENSG00000196663	ENST00000359520	T	0.52057	0.68	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.973;0.985;0.985	T	0.62723	-0.6794	10	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	388;1205;1205	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	C	1205	ENSP00000352510:W1205C	ENSP00000352510:W1205C	W	+	3	0	TECPR2	101988692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.387000	0.97232	2.769000	0.95229	0.655000	0.94253	TGG		0.647	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		14	1	1	0	7.93312e-07	0.00245	9.43756e-07	14	1				
KLC1	3831	broad.mit.edu	37	14	104121095	104121095	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:104121095T>C	ENST00000348520.6	+	2	513	c.194T>C	c.(193-195)gTg>gCg	p.V65A	KLC1_ENST00000334553.6_Missense_Mutation_p.V65A|KLC1_ENST00000557575.1_Missense_Mutation_p.V65A|KLC1_ENST00000389744.4_Missense_Mutation_p.V65A|KLC1_ENST00000553286.1_Missense_Mutation_p.V65A|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.V237A|KLC1_ENST00000246489.7_Missense_Mutation_p.V65A|KLC1_ENST00000380038.3_Missense_Mutation_p.V65A|KLC1_ENST00000557450.1_Missense_Mutation_p.V65A|KLC1_ENST00000555836.1_Missense_Mutation_p.V65A|KLC1_ENST00000445352.4_Missense_Mutation_p.V65A|KLC1_ENST00000347839.6_Missense_Mutation_p.V65A|KLC1_ENST00000554280.1_Missense_Mutation_p.V65A|KLC1_ENST00000452929.2_Missense_Mutation_p.V65A	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	65					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGTAATTTGGTGGAGGAGAAA	0.443																																							uc001yno.2		NA																	0					0						c.(193-195)GTG>GCG		kinesin light chain 1 isoform 2							99.0	96.0	97.0					14																	104121095		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104121095T>C	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.194T>C	14.37:g.104121095T>C	ENSP00000341154:p.Val65Ala					KLC1_uc010tyd.1_Missense_Mutation_p.V224A|KLC1_uc010tye.1_Missense_Mutation_p.V61A|KLC1_uc001ynm.1_Missense_Mutation_p.V65A|KLC1_uc001ynn.1_Missense_Mutation_p.V61A|KLC1_uc010tyf.1_Missense_Mutation_p.V65A	p.V65A	NM_182923	NP_891553	Q07866	KLC1_HUMAN			2	502	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	65					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.194T>C	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216720	0.58452	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;D;T;T;T;T;T;T;T;D;T;T;D;T	0.83250	0.93;-1.11;-1.67;-1.11;-1.09;-1.11;-1.09;-1.1;-1.12;-1.11;-1.7;-1.09;-1.11;-1.7;-0.35	5.34	5.34	0.76211	.	0.157214	0.44097	D	0.000497	D	0.86892	0.6042	L	0.48642	1.525	0.58432	D	0.999995	D;B;B;D;B	0.71674	0.998;0.082;0.02;0.969;0.001	D;B;B;D;B	0.72625	0.978;0.053;0.028;0.93;0.011	D	0.83751	0.0209	10	0.17369	T	0.5	-22.2921	15.328	0.74182	0.0:0.0:0.0:1.0	.	65;65;237;65;65	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	A	65;65;65;65;65;65;65;65;65;65;65;65;65;65;65;237	ENSP00000450786:V65A;ENSP00000341154:V65A;ENSP00000369377:V65A;ENSP00000374394:V65A;ENSP00000450617:V65A;ENSP00000452487:V65A;ENSP00000334618:V65A;ENSP00000452481:V65A;ENSP00000334523:V65A;ENSP00000246489:V65A;ENSP00000450648:V65A;ENSP00000451242:V65A;ENSP00000414982:V65A;ENSP00000412693:V65A;ENSP00000439065:V237A	ENSP00000246489:V65A	V	+	2	0	KLC1;RP11-73M18.2	103190848	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.158000	0.58150	2.015000	0.59207	0.455000	0.32223	GTG		0.443	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		8	28	0	0	0	0.00308	0	8	28				
AHNAK2	113146	broad.mit.edu	37	14	105410035	105410035	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:105410035G>T	ENST00000333244.5	-	7	11872	c.11753C>A	c.(11752-11754)cCc>cAc	p.P3918H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3918						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCACCTTGGGGTCTTTTAG	0.602																																							uc010axc.1		NA																	0				ovary(1)	1						c.(11752-11754)CCC>CAC		AHNAK nucleoprotein 2							144.0	150.0	148.0					14																	105410035		1894	4106	6000	SO:0001583	missense	113146					nucleus		g.chr14:105410035G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11753C>A	14.37:g.105410035G>T	ENSP00000353114:p.Pro3918His					AHNAK2_uc001ypx.2_Missense_Mutation_p.P3818H	p.P3918H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11873	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3918					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11753C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	13.64	2.297486	0.40694	.	.	ENSG00000185567	ENST00000333244	T	0.02709	4.19	3.48	2.51	0.30379	.	1198.740000	0.00520	U	0.000199	T	0.22898	0.0553	M	0.91038	3.17	0.09310	N	1	D	0.63880	0.993	D	0.77004	0.989	T	0.03043	-1.1079	10	0.72032	D	0.01	.	9.7604	0.40528	0.1133:0.0:0.8867:0.0	.	3918	Q8IVF2	AHNK2_HUMAN	H	3918	ENSP00000353114:P3918H	ENSP00000353114:P3918H	P	-	2	0	AHNAK2	104481080	0.303000	0.24463	0.011000	0.14972	0.044000	0.14063	3.249000	0.51437	0.738000	0.32606	0.306000	0.20318	CCC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		166	30	1	0	1.6305e-70	0.00361	3.51793e-70	166	30				
OR4M2	390538	broad.mit.edu	37	15	22368844	22368844	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:22368844A>G	ENST00000332663.2	+	1	367	c.269A>G	c.(268-270)aAg>aGg	p.K90R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTGGAGAGGAAGATAATTTCT	0.438																																							uc010tzu.1		NA																	0				ovary(1)	1						c.(268-270)AAG>AGG		olfactory receptor, family 4, subfamily M,							346.0	293.0	311.0					15																	22368844		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368844A>G	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.269A>G	15.37:g.22368844A>G	ENSP00000329467:p.Lys90Arg					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.K90R	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	269	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	90			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.269A>G	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	14.83	2.651936	0.47362	.	.	ENSG00000182974	ENST00000332663	T	0.37584	1.19	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.47358	0.1441	L	0.50847	1.595	0.09310	N	1	D	0.69078	0.997	D	0.67725	0.953	T	0.18650	-1.0330	10	0.66056	D	0.02	-11.6614	8.5824	0.33637	1.0:0.0:0.0:0.0	.	90	Q8NGB6	OR4M2_HUMAN	R	90	ENSP00000329467:K90R	ENSP00000329467:K90R	K	+	2	0	OR4M2	19870208	0.516000	0.26218	0.983000	0.44433	0.949000	0.60115	2.099000	0.41767	1.167000	0.42706	0.368000	0.22195	AAG		0.438	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			57	288	0	0	0	0.00361	0	57	288				
OR4N4	283694	broad.mit.edu	37	15	22382695	22382695	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:22382695T>C	ENST00000328795.4	+	1	314	c.223T>C	c.(223-225)Ttc>Ctc	p.F75L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTACTCCTTCATTGTGGC	0.473																																							uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(223-225)TTC>CTC		olfactory receptor, family 4, subfamily N,							156.0	148.0	151.0					15																	22382695		2203	4300	6503	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382695T>C	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.223T>C	15.37:g.22382695T>C	ENSP00000332500:p.Phe75Leu					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.F75L	p.F75L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1204	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	75			Helical; Name=2; (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.223T>C	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	4.776	0.144323	0.09134	.	.	ENSG00000183706	ENST00000328795	T	0.00388	7.59	3.24	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.00178	0.0005	N	0.11023	0.085	0.21445	N	0.99968	B	0.17465	0.022	B	0.17098	0.017	T	0.42999	-0.9418	10	0.87932	D	0	-21.6554	7.9381	0.29941	0.0:0.0:0.2093:0.7907	.	75	Q8N0Y3	OR4N4_HUMAN	L	75	ENSP00000332500:F75L	ENSP00000332500:F75L	F	+	1	0	OR4N4	19884059	0.000000	0.05858	1.000000	0.80357	0.072000	0.16883	0.252000	0.18278	0.430000	0.26230	-1.332000	0.01269	TTC		0.473	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			9	339	0	0	0	0.003954	0	9	339				
MAGEL2	54551	broad.mit.edu	37	15	23890725	23890725	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:23890725C>A	ENST00000532292.1	-	1	450	c.356G>T	c.(355-357)aGg>aTg	p.R119M		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAAGAGGCCCTGCATTCTCC	0.602																																							uc001ywj.3		NA																	0					0						c.(355-357)AGG>ATG		MAGE-like protein 2							22.0	23.0	23.0					15																	23890725		1866	4104	5970	SO:0001583	missense	54551							g.chr15:23890725C>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.356G>T	15.37:g.23890725C>A	ENSP00000433433:p.Arg119Met						p.R119M	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	451	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.356G>T		.	.	.	.	.	.	.	.	.	.	c	10.12	1.264378	0.23136	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.51	1.59	0.23543	.	.	.	.	.	T	0.37892	0.1020	L	0.55481	1.735	0.09310	N	0.999996	.	.	.	.	.	.	T	0.30357	-0.9981	5	.	.	.	.	3.171	0.06552	0.2081:0.5627:0.0:0.2292	.	.	.	.	W	151	.	.	G	-	1	0	MAGEL2	21441818	0.000000	0.05858	0.532000	0.27989	0.032000	0.12392	0.110000	0.15437	0.463000	0.27118	0.556000	0.70494	GGG		0.602	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		6	12	1	0	0.000157383	0.00308	0.000172794	6	12				
NDN	4692	broad.mit.edu	37	15	23932277	23932277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:23932277C>A	ENST00000331837.4	-	1	173	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	30					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGAACCCCCTCCGAAACCCCA	0.682									Prader-Willi syndrome																														uc001ywk.2		NA																	0					0						c.(88-90)GAG>TAG		necdin							15.0	14.0	15.0					15																	23932277		1709	3416	5125	SO:0001587	stop_gained	4692	Prader-Willsyndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932277C>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.88G>T	15.37:g.23932277C>A	ENSP00000332643:p.Glu30*						p.E30*	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	174	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	30					B2R6Z5	Nonsense_Mutation	SNP	ENST00000331837.4	37	c.88G>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091114	0.76756	.	.	ENSG00000182636	ENST00000331837	.	.	.	3.75	1.75	0.24633	.	4.777300	0.00735	N	0.000977	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	7.6529	0.28358	0.0:0.8141:0.0:0.1859	.	.	.	.	X	30	.	ENSP00000332643:E30X	E	-	1	0	NDN	21483370	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.022000	0.13511	0.328000	0.23435	0.561000	0.74099	GAG		0.682	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		7	9	1	0	0.00307968	0.00308	0.00324849	7	9				
NPAP1	23742	broad.mit.edu	37	15	24921513	24921513	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24921513G>T	ENST00000329468.2	+	1	973	c.499G>T	c.(499-501)Gtg>Ttg	p.V167L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	167					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGAGGATCCGGTGCAGATCGA	0.627																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(499-501)GTG>TTG		hypothetical protein LOC23742							43.0	38.0	39.0					15																	24921513		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921513G>T	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.499G>T	15.37:g.24921513G>T	ENSP00000333735:p.Val167Leu						p.V167L	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	973	+		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)	167						Missense_Mutation	SNP	ENST00000329468.2	37	c.499G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	7.755	0.704146	0.15172	.	.	ENSG00000185823	ENST00000329468	T	0.10960	2.82	1.62	-3.23	0.05109	.	2.614030	0.02190	N	0.061274	T	0.12732	0.0309	L	0.29908	0.895	0.09310	N	1	P	0.47910	0.902	P	0.49665	0.618	T	0.18903	-1.0322	10	0.40728	T	0.16	.	7.0124	0.24869	0.3491:0.0:0.6509:0.0	.	167	Q9NZP6	CO002_HUMAN	L	167	ENSP00000333735:V167L	ENSP00000333735:V167L	V	+	1	0	C15orf2	22472606	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.399000	0.02506	-1.174000	0.02754	-0.450000	0.05554	GTG		0.627	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		11	21	1	0	1.08611e-07	0.000978	1.32871e-07	11	21				
NPAP1	23742	broad.mit.edu	37	15	24922265	24922265	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24922265T>A	ENST00000329468.2	+	1	1725	c.1251T>A	c.(1249-1251)acT>acA	p.T417T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	417	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCACTTACACTTCCCAGGTCT	0.552																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1249-1251)ACT>ACA		hypothetical protein LOC23742							100.0	97.0	98.0					15																	24922265		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922265T>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.1251T>A	15.37:g.24922265T>A							p.T417T	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	1725	+		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)	417			Pro-rich.			Silent	SNP	ENST00000329468.2	37	c.1251T>A	CCDS10015.1																																																																																				0.552	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		18	32	0	0	0	0.010504	0	18	32				
NPAP1	23742	broad.mit.edu	37	15	24922352	24922352	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24922352C>T	ENST00000329468.2	+	1	1812	c.1338C>T	c.(1336-1338)acC>acT	p.T446T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	446	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CACTTTCCACCACACCAAAAA	0.502																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1336-1338)ACC>ACT		hypothetical protein LOC23742							160.0	145.0	150.0					15																	24922352		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922352C>T	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.1338C>T	15.37:g.24922352C>T							p.T446T	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	1812	+		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)	446			Pro-rich.			Silent	SNP	ENST00000329468.2	37	c.1338C>T	CCDS10015.1																																																																																				0.502	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		24	42	0	0	0	0.00278	0	24	42				
NPAP1	23742	broad.mit.edu	37	15	24922627	24922627	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24922627C>A	ENST00000329468.2	+	1	2087	c.1613C>A	c.(1612-1614)aCc>aAc	p.T538N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	538					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTCCCTTCCACCGGGACCTCA	0.527																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1612-1614)ACC>AAC		hypothetical protein LOC23742							177.0	176.0	176.0					15																	24922627		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922627C>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.1613C>A	15.37:g.24922627C>A	ENSP00000333735:p.Thr538Asn						p.T538N	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	2087	+		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)	538						Missense_Mutation	SNP	ENST00000329468.2	37	c.1613C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.96	2.393351	0.42410	.	.	ENSG00000185823	ENST00000329468	T	0.06933	3.24	1.58	0.641	0.17759	.	1.241270	0.06047	N	0.655962	T	0.11665	0.0284	L	0.38175	1.15	0.09310	N	1	D	0.65815	0.995	P	0.54889	0.763	T	0.29119	-1.0022	10	0.27082	T	0.32	.	3.8322	0.08879	0.0:0.7627:0.0:0.2373	.	538	Q9NZP6	CO002_HUMAN	N	538	ENSP00000333735:T538N	ENSP00000333735:T538N	T	+	2	0	C15orf2	22473720	0.000000	0.05858	0.000000	0.03702	0.406000	0.30931	-0.991000	0.03728	0.235000	0.21160	0.205000	0.17691	ACC		0.527	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		67	80	1	0	2.165e-29	0.00361	4.25236e-29	67	80				
NPAP1	23742	broad.mit.edu	37	15	24924332	24924332	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:24924332C>A	ENST00000329468.2	+	1	3792	c.3318C>A	c.(3316-3318)ggC>ggA	p.G1106G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1106					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GAGGGGATGGCACCAGATCCA	0.488																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(3316-3318)GGC>GGA		hypothetical protein LOC23742							145.0	125.0	132.0					15																	24924332		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24924332C>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.3318C>A	15.37:g.24924332C>A							p.G1106G	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	3792	+		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)	1106						Silent	SNP	ENST00000329468.2	37	c.3318C>A	CCDS10015.1																																																																																				0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		32	56	1	0	2.81731e-10	0.002096	3.76347e-10	32	56				
OCA2	4948	broad.mit.edu	37	15	28096607	28096607	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28096607C>A	ENST00000354638.3	-	22	2414	c.2259G>T	c.(2257-2259)ctG>ctT	p.L753L	OCA2_ENST00000353809.5_Silent_p.L729L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	753					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGCTCAGGTTCAGGAGCACGG	0.577									Oculocutaneous Albinism																														uc001zbh.3		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(2257-2259)CTG>CTT		oculocutaneous albinism II							58.0	44.0	49.0					15																	28096607		2201	4300	6501	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28096607C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2259G>T	15.37:g.28096607C>A						OCA2_uc010ayv.2_Silent_p.L729L	p.L753L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	22	2369	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	753			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.2259G>T	CCDS10020.1																																																																																				0.577	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		3	11	1	0	0.004672	0.004672	0.00490267	3	11				
OCA2	4948	broad.mit.edu	37	15	28211927	28211927	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28211927C>A	ENST00000354638.3	-	15	1700	c.1545G>T	c.(1543-1545)ggG>ggT	p.G515G	OCA2_ENST00000382996.2_Silent_p.G515G|OCA2_ENST00000353809.5_Silent_p.G491G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	515					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAAGGCAAATCCCAATGAACA	0.488									Oculocutaneous Albinism																														uc001zbh.3		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(1543-1545)GGG>GGT		oculocutaneous albinism II							106.0	85.0	92.0					15																	28211927		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28211927C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1545G>T	15.37:g.28211927C>A						OCA2_uc010ayv.2_Silent_p.G491G	p.G515G	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	15	1655	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	515			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1545G>T	CCDS10020.1																																																																																				0.488	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		8	10	1	0	5.4927e-09	0.004482	7.02119e-09	8	10				
OCA2	4948	broad.mit.edu	37	15	28260048	28260048	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28260048G>T	ENST00000354638.3	-	9	1073	c.918C>A	c.(916-918)gcC>gcA	p.A306A	OCA2_ENST00000382996.2_Silent_p.A306A|OCA2_ENST00000353809.5_Silent_p.A306A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	306					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGCAGGGAGGCCCGGATGC	0.577									Oculocutaneous Albinism																														uc001zbh.3		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(916-918)GCC>GCA		oculocutaneous albinism II							108.0	80.0	90.0					15																	28260048		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28260048G>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.918C>A	15.37:g.28260048G>T						OCA2_uc010ayv.2_Silent_p.A306A	p.A306A	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	9	1028	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	306			Extracellular (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.918C>A	CCDS10020.1																																																																																				0.577	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		8	16	1	0	5.18039e-06	0.00308	6.01703e-06	8	16				
OCA2	4948	broad.mit.edu	37	15	28263615	28263615	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28263615C>T	ENST00000354638.3	-	7	890	c.735G>A	c.(733-735)ggG>ggA	p.G245G	OCA2_ENST00000382996.2_Silent_p.G245G|OCA2_ENST00000353809.5_Silent_p.G245G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	245					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTCTTCCCTCCCAGGACGAC	0.612									Oculocutaneous Albinism																														uc001zbh.3		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(733-735)GGG>GGA		oculocutaneous albinism II							38.0	34.0	36.0					15																	28263615		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28263615C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.735G>A	15.37:g.28263615C>T						OCA2_uc010ayv.2_Silent_p.G245G	p.G245G	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	7	845	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	245			Extracellular (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.735G>A	CCDS10020.1																																																																																				0.612	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		7	9	0	0	0	0.001984	0	7	9				
HERC2	8924	broad.mit.edu	37	15	28538048	28538048	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28538048C>A	ENST00000261609.7	-	4	416	c.308G>T	c.(307-309)tGg>tTg	p.W103L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		TTGCTTGCCCCATACCCAGCT	0.393																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(307-309)TGG>TTG		hect domain and RLD 2							48.0	48.0	48.0					15																	28538048		2203	4300	6503	SO:0001583	missense	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.chr15:28538048C>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.308G>T	15.37:g.28538048C>A	ENSP00000261609:p.Trp103Leu					HERC2_uc001zbl.1_5'UTR	p.W103L	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)	4	414	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	103						Missense_Mutation	SNP	ENST00000261609.7	37	c.308G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242920	0.79912	.	.	ENSG00000128731	ENST00000261609	T	0.75477	-0.94	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000001	D	0.84969	0.5590	M	0.73962	2.25	0.80722	D	1	D	0.54601	0.967	P	0.62382	0.901	D	0.87385	0.2359	10	0.87932	D	0	.	17.8397	0.88712	0.0:1.0:0.0:0.0	.	103	O95714	HERC2_HUMAN	L	103	ENSP00000261609:W103L	ENSP00000261609:W103L	W	-	2	0	HERC2	26211643	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.500000	0.60387	2.209000	0.71365	0.650000	0.86243	TGG		0.393	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		18	15	1	0	9.16793e-09	0.00499	1.15737e-08	18	15				
TRPM1	4308	broad.mit.edu	37	15	31358394	31358394	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:31358394G>T	ENST00000256552.6	-	7	822	c.675C>A	c.(673-675)aaC>aaA	p.N225K	TRPM1_ENST00000542188.1_Missense_Mutation_p.N242K|TRPM1_ENST00000397795.2_Missense_Mutation_p.N203K|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGTGGGAGTTGTTGAGCACAG	0.542																																							uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(607-609)AAC>AAA		transient receptor potential cation channel,							188.0	190.0	189.0					15																	31358394		2116	4262	6378	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31358394G>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.675C>A	15.37:g.31358394G>T	ENSP00000256552:p.Asn225Lys					TRPM1_uc010azy.2_Missense_Mutation_p.N116K|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank	p.N203K	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	6	737	-		all_lung(180;1.92e-11)	203			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.609C>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279664	0.80692	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.03212	4.01;4.01;4.01	4.97	4.02	0.46733	.	0.088396	0.85682	D	0.000000	T	0.18759	0.0450	M	0.89414	3.03	0.58432	D	0.999999	D;D	0.67145	0.995;0.996	D;D	0.77557	0.99;0.967	T	0.00308	-1.1829	10	0.87932	D	0	-33.9183	8.2965	0.31988	0.0781:0.0:0.7652:0.1567	.	203;203	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	K	203;242;225;203	ENSP00000380897:N203K;ENSP00000437849:N242K;ENSP00000256552:N225K	ENSP00000256552:N225K	N	-	3	2	TRPM1	29145686	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	5.731000	0.68554	1.173000	0.42796	0.655000	0.94253	AAC		0.542	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		23	24	1	0	7.87624e-14	0.00278	1.17689e-13	23	24				
OTUD7A	161725	broad.mit.edu	37	15	31779767	31779767	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:31779767C>T	ENST00000307050.4	-	9	1245	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	OTUD7A_ENST00000382902.1_Missense_Mutation_p.V392M	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	385	Catalytic. {ECO:0000250}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AGGGGGATCACGGCTGGAACA	0.587																																							uc001zfq.2		NA																	0				pancreas(1)|skin(1)	2						c.(1153-1155)GTG>ATG		OTU domain containing 7A							58.0	52.0	54.0					15																	31779767		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31779767C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1153G>A	15.37:g.31779767C>T	ENSP00000305926:p.Val385Met					OTUD7A_uc001zfr.2_Missense_Mutation_p.V392M	p.V385M	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	9	1246	-		all_lung(180;1.6e-09)	385			Catalytic (By similarity).|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1153G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513601	0.85389	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.36520	1.26;1.25	4.44	4.44	0.53790	.	0.185405	0.46442	D	0.000295	T	0.58609	0.2134	M	0.64997	1.995	0.50467	D	0.999876	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.63910	-0.6530	10	0.72032	D	0.01	-33.3305	17.4453	0.87577	0.0:1.0:0.0:0.0	.	392;385	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	M	385;392	ENSP00000305926:V385M;ENSP00000372358:V392M	ENSP00000305926:V385M	V	-	1	0	OTUD7A	29567059	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	5.430000	0.66501	2.147000	0.66899	0.555000	0.69702	GTG		0.587	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		15	4	0	0	0	0.003163	0	15	4				
RYR3	6263	broad.mit.edu	37	15	33939623	33939623	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:33939623A>T	ENST00000389232.4	+	30	4011		c.e30-1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						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)			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)		TCTTTCCCCCAGGAAACAGAT	0.358																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.e30-2		ryanodine receptor 3							141.0	140.0	140.0					15																	33939623		1859	4099	5958	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33939623A>T		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.3942-1A>T	15.37:g.33939623A>T						RYR3_uc010bar.2_Splice_Site_p.R1314_splice	p.R1314_splice	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)	30	4012	+		all_lung(180;7.18e-09)						O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.3942_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394305	0.83011	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31726915	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.869000	0.69613	2.304000	0.77564	0.528000	0.53228	.		0.358	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	14	17	0	0	0	0.003163	0	14	17				
KATNBL1	79768	broad.mit.edu	37	15	34446862	34446862	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:34446862C>A	ENST00000256544.3	-	3	283	c.141G>T	c.(139-141)ttG>ttT	p.L47F		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	47						nucleolus (GO:0005730)											TGTAAGCAGCCAACTGTTTTG	0.358																																							uc001zhp.2		NA																	0				ovary(1)	1						c.(139-141)TTG>TTT		hypothetical protein LOC79768							68.0	64.0	66.0					15																	34446862		2201	4297	6498	SO:0001583	missense	79768					nucleolus		g.chr15:34446862C>A	AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 29"""	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.141G>T	15.37:g.34446862C>A	ENSP00000256544:p.Leu47Phe					C15orf29_uc010ubz.1_5'UTR|C15orf29_uc010uca.1_Missense_Mutation_p.L47F	p.L47F	NM_024713	NP_078989	Q9H079	CO029_HUMAN		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)	3	301	-		all_lung(180;1.86e-06)	47					A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	c.141G>T	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894201	0.72639	.	.	ENSG00000134152	ENST00000256544	.	.	.	4.9	4.9	0.64082	.	0.163302	0.41294	D	0.000905	T	0.67822	0.2934	L	0.32530	0.975	0.50813	D	0.999892	D	0.71674	0.998	D	0.83275	0.996	T	0.69847	-0.5034	9	0.52906	T	0.07	.	18.0346	0.89296	0.0:1.0:0.0:0.0	.	47	Q9H079	CO029_HUMAN	F	47	.	ENSP00000256544:L47F	L	-	3	2	C15orf29	32234154	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.090000	0.64498	2.430000	0.82344	0.555000	0.69702	TTG		0.358	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1	NM_024713		7	16	1	0	0.00198382	0.001984	0.00209878	7	16				
GOLGA8B	440270	broad.mit.edu	37	15	34825090	34825090	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:34825090C>T	ENST00000342314.5	-	3	339	c.242G>A	c.(241-243)aGg>aAg	p.R81K	GOLGA8B_ENST00000438958.2_Missense_Mutation_p.R111K|GOLGA8A_ENST00000543376.1_Intron|GOLGA8B_ENST00000267731.7_Missense_Mutation_p.R81K	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	81						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTTTATGGACCTCGAGTTCAG	0.557																																							uc001ziq.2		NA																	0					0						c.(241-243)AGG>AAG		golgi autoantigen, golgin subfamily a, 8B							34.0	19.0	24.0					15																	34825090		686	1358	2044	SO:0001583	missense	440270					Golgi cisterna membrane		g.chr15:34825090C>T	AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"""golgi autoantigen, golgin subfamily a, 8B"""				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.242G>A	15.37:g.34825090C>T	ENSP00000343064:p.Arg81Lys					GOLGA8B_uc010ucf.1_5'UTR|GOLGA8B_uc001zip.2_5'UTR	p.R81K	NM_001023567	NP_001018861	A8MQT2	GOG8B_HUMAN		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	3	351	-		all_lung(180;2.78e-08)	81					A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	ENST00000342314.5	37	c.242G>A	CCDS45211.1	.	.	.	.	.	.	.	.	.	.	c	13.24	2.178532	0.38511	.	.	ENSG00000215252	ENST00000342314;ENST00000267731;ENST00000438958	T;T;T	0.20738	2.05;2.05;2.62	1.55	1.55	0.23275	.	.	.	.	.	T	0.20981	0.0505	M	0.66939	2.045	0.18873	N	0.999982	P	0.36837	0.571	B	0.36608	0.229	T	0.12604	-1.0541	9	0.36615	T	0.2	.	6.5813	0.22596	0.0:1.0:0.0:0.0	.	81	A8MQT2	GOG8B_HUMAN	K	81;81;111	ENSP00000343064:R81K;ENSP00000267731:R81K;ENSP00000400063:R111K	ENSP00000267731:R81K	R	-	2	0	GOLGA8B	32612382	1.000000	0.71417	0.325000	0.25375	0.004000	0.04260	4.182000	0.58310	1.174000	0.42811	0.298000	0.19748	AGG		0.557	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251739.2	NM_001023567		18	91	0	0	0	0.001882	0	18	91				
THBS1	7057	broad.mit.edu	37	15	39883723	39883723	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:39883723G>A	ENST00000260356.5	+	16	2596	c.2431G>A	c.(2431-2433)Gac>Aac	p.D811N	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	811					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAATGAACGGGACAACTGCCA	0.483																																							uc001zkh.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(2431-2433)GAC>AAC		thrombospondin 1 precursor	Becaplermin(DB00102)						170.0	145.0	153.0					15																	39883723		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39883723G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2431G>A	15.37:g.39883723G>A	ENSP00000260356:p.Asp811Asn					THBS1_uc010bbi.2_Missense_Mutation_p.D283N	p.D811N	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	16	2610	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	811			TSP type-3 4.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2431G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	36	5.673193	0.96754	.	.	ENSG00000137801	ENST00000260356	D	0.99919	-8.0	5.7	5.7	0.88788	.	0.000000	0.38217	N	0.001775	D	0.99949	0.9978	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.96226	0.9164	10	0.87932	D	0	-36.0127	19.8163	0.96569	0.0:0.0:1.0:0.0	.	726;811	B4E3J7;P07996	.;TSP1_HUMAN	N	811	ENSP00000260356:D811N	ENSP00000260356:D811N	D	+	1	0	THBS1	37671015	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.864000	0.99589	2.684000	0.91462	0.655000	0.94253	GAC		0.483	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		12	43	0	0	0	0.000978	0	12	43				
INO80	54617	broad.mit.edu	37	15	41347448	41347448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:41347448C>A	ENST00000361937.3	-	18	2609	c.2185G>T	c.(2185-2187)Gag>Tag	p.E729*	INO80_ENST00000401393.3_Nonsense_Mutation_p.E729*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	729	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TACTCACTCTCATCAATAGCA	0.348																																							uc001zni.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2185-2187)GAG>TAG		INO80 complex homolog 1							144.0	129.0	134.0					15																	41347448		2203	4300	6503	SO:0001587	stop_gained	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41347448C>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2185G>T	15.37:g.41347448C>A	ENSP00000355205:p.Glu729*					INO80_uc010ucu.1_RNA	p.E729*	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			18	2398	-			729			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	c.2185G>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	39	7.844073	0.98522	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.6488	0.88157	0.0:1.0:0.0:0.0	.	.	.	.	X	729	.	ENSP00000355205:E729X	E	-	1	0	INO80	39134740	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.805000	0.86005	2.179000	0.69175	0.305000	0.20034	GAG		0.348	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		9	12	1	0	4.68919e-08	0.008291	5.81656e-08	9	12				
PLA2G4F	255189	broad.mit.edu	37	15	42436328	42436328	+	Missense_Mutation	SNP	C	C	T	rs375162581		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:42436328C>T	ENST00000382396.4	-	18	2076	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.A666T			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	664	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TTGGGGAAGGCGTCCGGGTGT	0.572																																							uc001zoz.2		NA																	0				ovary(4)	4						c.(1990-1992)GCC>ACC		phospholipase A2, group IVF		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	89.0	74.0	79.0		1990	0.3	0.0	15		79	0,8598		0,0,4299	no	missense	PLA2G4F	NM_213600.3	58	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	664/850	42436328	1,13003	2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42436328C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1990G>A	15.37:g.42436328C>T	ENSP00000371833:p.Ala664Thr					PLA2G4F_uc010bcq.2_Intron|PLA2G4F_uc001zoy.2_Missense_Mutation_p.A296T|PLA2G4F_uc010bcr.2_Missense_Mutation_p.A415T|PLA2G4F_uc001zpa.2_Missense_Mutation_p.A415T|PLA2G4F_uc010bcs.2_Missense_Mutation_p.A451T	p.A664T	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	18	2053	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	664			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1990G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805440	0.50315	2.27E-4	0.0	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.12465	2.68;2.68	5.79	0.312	0.15837	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.356774	0.26241	N	0.025510	T	0.11410	0.0278	L	0.29908	0.895	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.51193	0.662;0.57	T	0.20306	-1.0279	10	0.27082	T	0.32	-14.472	5.3965	0.16273	0.2448:0.5567:0.0:0.1985	.	451;664	A2RRC4;Q68DD2	.;PA24F_HUMAN	T	660;666;664;664	ENSP00000380442:A666T;ENSP00000371833:A664T	ENSP00000290497:A660T	A	-	1	0	PLA2G4F	40223620	0.199000	0.23386	0.008000	0.14137	0.387000	0.30353	0.580000	0.23803	0.334000	0.23590	0.609000	0.83330	GCC		0.572	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		17	24	0	0	0	0.008871	0	17	24				
TGM7	116179	broad.mit.edu	37	15	43577146	43577146	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:43577146C>G	ENST00000452443.2	-	7	874	c.870G>C	c.(868-870)atG>atC	p.M290I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	290					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTAAGCATCTCATTACTAAAG	0.413																																							uc001zrf.1		NA																	0				ovary(2)	2						c.(868-870)ATG>ATC		transglutaminase 7	L-Glutamine(DB00130)						93.0	82.0	86.0					15																	43577146		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43577146C>G	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.870G>C	15.37:g.43577146C>G	ENSP00000389466:p.Met290Ile						p.M290I	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	7	875	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	290						Missense_Mutation	SNP	ENST00000452443.2	37	c.870G>C	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877581	0.72294	.	.	ENSG00000159495	ENST00000452443	T	0.50813	0.73	5.63	5.63	0.86233	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	M	0.82716	2.605	0.38724	D	0.953517	D	0.69078	0.997	D	0.79108	0.992	T	0.75436	-0.3318	10	0.66056	D	0.02	-36.3866	12.8595	0.57906	0.0:0.8364:0.1636:0.0	.	290	Q96PF1	TGM7_HUMAN	I	290	ENSP00000389466:M290I	ENSP00000389466:M290I	M	-	3	0	TGM7	41364438	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.292000	0.43549	2.665000	0.90641	0.655000	0.94253	ATG		0.413	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		15	16	0	0	0	0.00245	0	15	16				
MAP1A	4130	broad.mit.edu	37	15	43815578	43815578	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:43815578A>G	ENST00000300231.5	+	4	2357	c.1907A>G	c.(1906-1908)gAc>gGc	p.D636G	MAP1A_ENST00000382031.1_Missense_Mutation_p.D874G|MAP1A_ENST00000399453.1_Missense_Mutation_p.D636G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	636					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGCTCCCAGACAGAACAGAA	0.498																																							uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(1906-1908)GAC>GGC		microtubule-associated protein 1A	Estramustine(DB01196)						36.0	37.0	36.0					15																	43815578		1917	4108	6025	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815578A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1907A>G	15.37:g.43815578A>G	ENSP00000300231:p.Asp636Gly						p.D636G	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	2374	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	636					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.1907A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	a	3.751	-0.051584	0.07362	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.49720	0.77;0.77;0.77	5.02	3.9	0.45041	.	0.511420	0.14634	N	0.307648	T	0.44850	0.1313	M	0.63428	1.95	0.09310	N	1	P	0.42692	0.787	B	0.41813	0.367	T	0.39643	-0.9604	10	0.52906	T	0.07	-2.4195	6.4271	0.21776	0.763:0.1571:0.08:0.0	.	636	P78559	MAP1A_HUMAN	G	874;636;636	ENSP00000371462:D874G;ENSP00000382380:D636G;ENSP00000300231:D636G	ENSP00000300231:D636G	D	+	2	0	MAP1A	41602870	0.931000	0.31567	0.587000	0.28692	0.696000	0.40369	3.115000	0.50391	0.950000	0.37743	-0.359000	0.07587	GAC		0.498	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		2	7	0	0	0	0.004672	0	2	7				
PPIP5K1	9677	broad.mit.edu	37	15	43851102	43851102	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:43851102G>A	ENST00000396923.3	-	28	3397	c.3276C>T	c.(3274-3276)acC>acT	p.T1092T	PPIP5K1_ENST00000381885.1_Silent_p.T1088T|PPIP5K1_ENST00000381879.4_Silent_p.T1068T|PPIP5K1_ENST00000360301.4_Silent_p.T1067T|PPIP5K1_ENST00000348806.6_Silent_p.T1025T|PPIP5K1_ENST00000420765.1_Silent_p.T1092T|PPIP5K1_ENST00000334933.4_Silent_p.T1067T|PPIP5K1_ENST00000360135.4_Silent_p.T1025T			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1092					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						GAGGGTAGATGGTAGGCACCA	0.507																																							uc001zrw.2		NA																	0					0						c.(3274-3276)ACC>ACT		histidine acid phosphatase domain containing 2A							152.0	135.0	141.0					15																	43851102		2201	4298	6499	SO:0001819	synonymous_variant	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43851102G>A	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3276C>T	15.37:g.43851102G>A						PPIP5K1_uc001zrx.1_Silent_p.T1025T|PPIP5K1_uc001zru.2_Silent_p.T1067T|PPIP5K1_uc001zry.3_Silent_p.T1067T|PPIP5K1_uc001zrv.2_Silent_p.T987T	p.T1092T	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN			29	3459	-			1092					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Silent	SNP	ENST00000396923.3	37	c.3276C>T	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	5.877	0.345909	0.11126	.	.	ENSG00000168781	ENST00000439195	.	.	.	6.06	-0.385	0.12470	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24333	-1.0163	4	.	.	.	-14.8504	4.2965	0.10904	0.3195:0.0:0.4474:0.2331	.	.	.	.	L	172	.	.	P	-	2	0	PPIP5K1	41638394	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	2.128000	0.42045	-0.060000	0.13132	0.655000	0.94253	CCA		0.507	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		27	44	0	0	0	0.00632	0	27	44				
SPG11	80208	broad.mit.edu	37	15	44876469	44876469	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:44876469C>G	ENST00000261866.7	-	30	5425	c.5409G>C	c.(5407-5409)ctG>ctC	p.L1803L	SPG11_ENST00000427534.2_Silent_p.L1803L|SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000558319.1_Silent_p.L1803L|SPG11_ENST00000535302.2_Silent_p.L1803L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1803					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGATGCGGCACAGCCAGATCT	0.542																																							uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(5407-5409)CTG>CTC		spatacsin isoform 1							79.0	76.0	77.0					15																	44876469		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876469C>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5409G>C	15.37:g.44876469C>G						SPG11_uc010bdw.2_Silent_p.L92L|SPG11_uc010ueh.1_Silent_p.L1803L|SPG11_uc010uei.1_Silent_p.L1803L|SPG11_uc001zty.1_Silent_p.L532L	p.L1803L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	30	5440	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1803			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.5409G>C	CCDS10112.1																																																																																				0.542	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			17	20	0	0	0	0.00499	0	17	20				
DUOXA1	90527	broad.mit.edu	37	15	45411404	45411404	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:45411404G>A	ENST00000560572.1	-	6	937	c.932C>T	c.(931-933)gCt>gTt	p.A311V	DUOXA1_ENST00000559014.1_Missense_Mutation_p.A311V|DUOXA1_ENST00000267803.4_Missense_Mutation_p.A311V|DUOXA1_ENST00000430224.2_Missense_Mutation_p.A266V|DUOXA1_ENST00000558422.1_Missense_Mutation_p.A266V|DUOXA1_ENST00000558996.1_Missense_Mutation_p.A266V	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	311					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GGGACTGTCAGCCATGGACCG	0.552																																							uc001zuq.1		NA																	0				ovary(1)	1						c.(931-933)GCT>GTT		Numb-interacting protein							95.0	95.0	95.0					15																	45411404		2198	4298	6496	SO:0001583	missense	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45411404G>A	BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.932C>T	15.37:g.45411404G>A	ENSP00000454084:p.Ala311Val					DUOXA1_uc010uem.1_Missense_Mutation_p.A266V|DUOXA1_uc001zup.2_Missense_Mutation_p.A311V|DUOXA1_uc010bec.2_Missense_Mutation_p.A311V|DUOXA1_uc001zur.1_Missense_Mutation_p.A266V|DUOXA1_uc010bed.1_Missense_Mutation_p.A266V	p.A311V	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	6	961	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	311			Cytoplasmic (Potential).		Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	37	c.932C>T		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329897	0.24167	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.58506	0.75;0.33	5.31	2.24	0.28232	.	1.113020	0.06486	N	0.733695	T	0.42787	0.1218	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.31581	0.264;0.003;0.104;0.329	B;B;B;B	0.25987	0.044;0.002;0.039;0.065	T	0.33394	-0.9870	10	0.36615	T	0.2	-1.6908	5.4023	0.16303	0.0929:0.0:0.545:0.3621	.	266;266;311;311	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	V	311;266	ENSP00000267803:A311V;ENSP00000415512:A266V	ENSP00000267803:A311V	A	-	2	0	DUOXA1	43198696	0.002000	0.14202	0.430000	0.26722	0.239000	0.25481	1.241000	0.32743	1.421000	0.47157	0.655000	0.94253	GCT		0.552	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		37	38	0	0	0	0.00623	0	37	38				
SEMA6D	80031	broad.mit.edu	37	15	48063806	48063806	+	Missense_Mutation	SNP	C	C	A	rs34884840	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:48063806C>A	ENST00000316364.5	+	19	3485	c.3046C>A	c.(3046-3048)Cca>Aca	p.P1016T	SEMA6D_ENST00000389432.2_Missense_Mutation_p.P973T|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P941T|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P954T|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P954T|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P960T|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P1016T|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P997T|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P954T	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1016					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCAGGGAACACCAGTGAGTGT	0.517																																							uc010bek.2		NA																	0				skin(3)|breast(1)	4						c.(3046-3048)CCA>ACA		semaphorin 6D isoform 4 precursor							126.0	119.0	122.0					15																	48063806		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063806C>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.3046C>A	15.37:g.48063806C>A	ENSP00000324857:p.Pro1016Thr					SEMA6D_uc001zvw.2_Missense_Mutation_p.P954T|SEMA6D_uc001zvy.2_Missense_Mutation_p.P1016T|SEMA6D_uc001zvz.2_Missense_Mutation_p.P960T|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.P954T|SEMA6D_uc001zwc.2_Missense_Mutation_p.P941T	p.P1016T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3406	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	1016			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.3046C>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623014	0.46840	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16597	2.34;2.34;2.34;2.33;2.34;2.34;2.34;2.34	5.8	4.88	0.63580	.	0.247938	0.42053	D	0.000770	T	0.26268	0.0641	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.47106	0.769;0.652;0.873;0.89	B;B;P;B	0.51516	0.344;0.344;0.672;0.442	T	0.00313	-1.1825	10	0.59425	D	0.04	.	14.2971	0.66321	0.0:0.9294:0.0:0.0706	.	941;960;1016;954	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	T	954;1016;1016;997;973;960;954;941	ENSP00000442040:P954T;ENSP00000446152:P1016T;ENSP00000324857:P1016T;ENSP00000374084:P997T;ENSP00000374083:P973T;ENSP00000346786:P960T;ENSP00000350770:P954T;ENSP00000374079:P941T	ENSP00000324857:P1016T	P	+	1	0	SEMA6D	45851098	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.141000	0.50593	2.758000	0.94735	0.563000	0.77884	CCA		0.517	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		55	53	1	0	1.51943e-15	0.00361	2.37765e-15	55	53				
FAM227B	196951	broad.mit.edu	37	15	49800546	49800546	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:49800546C>T	ENST00000299338.6	-	11	1178		c.e11-1		FAM227B_ENST00000561064.1_Splice_Site	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B																		GGTTTTAAACCTGTTAATATA	0.299																																							uc001zxl.2		NA																	0				ovary(1)	1						c.e11-1		hypothetical protein LOC196951							72.0	73.0	73.0					15																	49800546		2196	4295	6491	SO:0001630	splice_region_variant	196951							g.chr15:49800546C>T		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.875-1G>A	15.37:g.49800546C>T						C15orf33_uc001zxm.2_Splice_Site_p.G258_splice	p.G292_splice	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	11	1169	-		all_lung(180;0.00187)						Q86WS2	Splice_Site	SNP	ENST00000299338.6	37	c.875_splice	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203195	0.38905	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8012	0.52128	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C15orf33	47587838	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.266000	0.51569	2.221000	0.72209	0.557000	0.71058	.		0.299	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	Intron	14	31	0	0	0	0.003163	0	14	31				
TMOD3	29766	broad.mit.edu	37	15	52192420	52192420	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:52192420G>A	ENST00000308580.7	+	8	1085	c.804G>A	c.(802-804)acG>acA	p.T268T	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Silent_p.T268T	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	268						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.T268T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		ACTTTATCACGGGAGTTGGGA	0.368																																					Colon(122;1837 2251 18387 22826)	Colon(122;1837 2251 18387 22826)	uc002abm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(802-804)ACG>ACA		tropomodulin 3 (ubiquitous)							94.0	89.0	90.0					15																	52192420		2195	4293	6488	SO:0001819	synonymous_variant	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52192420G>A	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.804G>A	15.37:g.52192420G>A						TMOD3_uc010bfc.1_RNA	p.T268T	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	8	1023	+			268					B2R6G7|Q9NT43|Q9NZR0	Silent	SNP	ENST00000308580.7	37	c.804G>A	CCDS10145.1																																																																																				0.368	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			7	18	0	0	0	0.001984	0	7	18				
MYZAP	100820829	broad.mit.edu	37	15	57910261	57910261	+	Missense_Mutation	SNP	A	A	G	rs377330516		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:57910261A>G	ENST00000267853.5	+	3	287	c.193A>G	c.(193-195)Agg>Ggg	p.R65G	GCOM1_ENST00000574161.1_Missense_Mutation_p.R65G|GCOM1_ENST00000380560.2_Missense_Mutation_p.R65G|GCOM1_ENST00000396180.1_Missense_Mutation_p.R65G|GCOM1_ENST00000380568.3_Missense_Mutation_p.R65G|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.R65G|GCOM1_ENST00000587652.1_Missense_Mutation_p.R65G|GCOM1_ENST00000380561.2_Missense_Mutation_p.R65G|MYZAP_ENST00000380565.4_Missense_Mutation_p.R65G|GCOM1_ENST00000572390.1_Missense_Mutation_p.R65G			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	65					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											AGAACCTACCAGGAAACTTCC	0.428																																							uc002aei.2		NA																	0				ovary(1)	1						c.(193-195)AGG>GGG		GRINL1A upstream protein isoform 7		A	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	1,4383	2.1+/-5.4	0,1,2191	167.0	160.0	163.0		193,193,193,193	3.8	1.0	15		163	0,8584		0,0,4292	no	missense,missense,missense,missense	GCOM1	NM_001018090.3,NM_001018091.3,NM_001018100.3,NM_152451.6	125,125,125,125	0,1,6483	GG,GA,AA		0.0,0.0228,0.0077	benign,benign,benign,benign	65/551,65/446,65/467,65/439	57910261	1,12967	2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57910261A>G	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.193A>G	15.37:g.57910261A>G	ENSP00000267853:p.Arg65Gly					GCOM1_uc002aej.2_Missense_Mutation_p.R65G|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.R65G|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.R65G|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	p.R65G	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN			3	312	+			65					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.193A>G	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441647	0.43326	2.28E-4	0.0	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.22539	1.96;1.95;1.97;1.98;1.96;1.95;1.95	6.17	3.77	0.43336	.	0.430897	0.28996	N	0.013466	T	0.12347	0.0300	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.14924	-1.0455	10	0.19590	T	0.45	-13.6973	6.4825	0.22071	0.6193:0.3044:0.0763:0.0	.	65;65;65;65	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	G	65	ENSP00000369943:R65G;ENSP00000369935:R65G;ENSP00000379483:R65G;ENSP00000369933:R65G;ENSP00000267853:R65G;ENSP00000369939:R65G;ENSP00000369942:R65G	ENSP00000267853:R65G	R	+	1	2	GCOM1	55697553	0.973000	0.33851	1.000000	0.80357	0.979000	0.70002	1.265000	0.33027	0.503000	0.28060	0.533000	0.62120	AGG		0.428	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		12	24	0	0	0	0.001855	0	12	24				
MYO1E	4643	broad.mit.edu	37	15	59523934	59523934	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:59523934G>A	ENST00000288235.4	-	6	876	c.477C>T	c.(475-477)gcC>gcT	p.A159A	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	159	Myosin motor.		A -> P (in FSGS6; the mutant shows diffuse cytosolic localization with a punctate pattern). {ECO:0000269|PubMed:21697813, ECO:0000269|PubMed:21756023}.		actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGACGGTCTTGGCGTTCCCGA	0.522																																							uc002aga.2		NA																	0				central_nervous_system(3)	3						c.(475-477)GCC>GCT		myosin IE							139.0	114.0	123.0					15																	59523934		2190	4290	6480	SO:0001819	synonymous_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59523934G>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.477C>T	15.37:g.59523934G>A							p.A159A	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	6	849	-			159			Myosin head-like.		Q14778	Silent	SNP	ENST00000288235.4	37	c.477C>T	CCDS32254.1																																																																																				0.522	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		25	37	0	0	0	0.00632	0	25	37				
VPS13C	54832	broad.mit.edu	37	15	62283946	62283946	+	Missense_Mutation	SNP	C	C	A	rs142155201		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:62283946C>A	ENST00000261517.5	-	17	1482	c.1409G>T	c.(1408-1410)cGt>cTt	p.R470L	VPS13C_ENST00000395896.4_Missense_Mutation_p.R470L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R427L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R427L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCAGCCTCCACGTTTCTCGCC	0.368																																							uc002agz.2		NA																	0				ovary(2)	2						c.(1408-1410)CGT>CTT		vacuolar protein sorting 13C protein isoform 2A							155.0	167.0	163.0					15																	62283946		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62283946C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1409G>T	15.37:g.62283946C>A	ENSP00000261517:p.Arg470Leu					VPS13C_uc002aha.2_Missense_Mutation_p.R427L|VPS13C_uc002ahb.1_Missense_Mutation_p.R470L|VPS13C_uc002ahc.1_Missense_Mutation_p.R427L	p.R470L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			17	1483	-			470						Missense_Mutation	SNP	ENST00000261517.5	37	c.1409G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301937	0.60195	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.44482	0.92;0.92;1.09	5.78	5.78	0.91487	.	0.228496	0.39834	N	0.001256	T	0.45135	0.1327	L	0.50333	1.59	0.34602	D	0.716664	B;B;B;B	0.34329	0.05;0.413;0.13;0.449	B;B;B;B	0.36608	0.031;0.229;0.093;0.201	T	0.56007	-0.8050	10	0.51188	T	0.08	.	20.0119	0.97458	0.0:1.0:0.0:0.0	.	427;470;427;470	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	427;470;470;470	ENSP00000249837:R427L;ENSP00000261517:R470L;ENSP00000379233:R470L	ENSP00000249837:R427L	R	-	2	0	VPS13C	60071238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.651000	0.61447	2.733000	0.93635	0.591000	0.81541	CGT		0.368	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		60	47	1	0	1.14856e-27	0.00361	2.22828e-27	60	47				
TLN2	83660	broad.mit.edu	37	15	63058585	63058585	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:63058585A>T	ENST00000561311.1	+	40	5390	c.5160A>T	c.(5158-5160)acA>acT	p.T1720T	TLN2_ENST00000306829.6_Silent_p.T1720T|TLN2_ENST00000472902.1_Silent_p.T113T			Q9Y4G6	TLN2_HUMAN	talin 2	1720					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)			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						CCATCGCCACAGCGGCTCGGG	0.547																																							uc002alb.3		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(5158-5160)ACA>ACT		talin 2							62.0	52.0	56.0					15																	63058585		2203	4300	6503	SO:0001819	synonymous_variant	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.chr15:63058585A>T	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.5160A>T	15.37:g.63058585A>T						TLN2_uc002alc.3_Silent_p.T113T|TLN2_uc002ald.2_Silent_p.T113T	p.T1720T	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			38	5160	+			1720					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.5160A>T	CCDS32261.1																																																																																				0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			18	29	0	0	0	0.002299	0	18	29				
CSNK1G1	53944	broad.mit.edu	37	15	64499794	64499794	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:64499794C>T	ENST00000303052.7	-	7	1103		c.e7-1		CSNK1G1_ENST00000303032.6_Splice_Site|CSNK1G1_ENST00000607537.1_Splice_Site|CTD-2116N17.1_ENST00000606793.1_Splice_Site	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1						Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CGGCTTTGCTCTAAAAGGGAA	0.453																																							uc002anf.2		NA																	0					0						c.e7-1		casein kinase 1, gamma 1							80.0	73.0	75.0					15																	64499794		2203	4300	6503	SO:0001630	splice_region_variant	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64499794C>T	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.680-1G>A	15.37:g.64499794C>T						CSNK1G1_uc002ane.2_Splice_Site|CSNK1G1_uc002ang.1_Splice_Site_p.E227_splice|CSNK1G1_uc002anh.1_Splice_Site_p.E227_splice|CSNK1G1_uc002anj.2_Splice_Site_p.E209_splice	p.E227_splice	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			7	1160	-								Q5JPH1|Q96AE9|Q9HCP1	Splice_Site	SNP	ENST00000303052.7	37	c.680_splice	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	C	33	5.260415	0.95368	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK1G1	62286847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	.		0.453	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048	Intron	11	16	0	0	0	0.008291	0	11	16				
IGDCC3	9543	broad.mit.edu	37	15	65667730	65667730	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:65667730G>T	ENST00000327987.4	-	2	365	c.114C>A	c.(112-114)caC>caA	p.H38Q		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	38	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTCAGCAGAGTGGCCAAGAC	0.552																																							uc002aos.2		NA																	0				ovary(3)	3						c.(112-114)CAC>CAA		putative neuronal cell adhesion molecule							28.0	26.0	26.0					15																	65667730		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65667730G>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.114C>A	15.37:g.65667730G>T	ENSP00000332773:p.His38Gln						p.H38Q	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			2	366	-			38			Extracellular (Potential).|Ig-like C2-type 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.114C>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.233250	0.01505	.	.	ENSG00000174498	ENST00000327987	T	0.64085	-0.08	5.54	4.61	0.57282	Immunoglobulin-like (1);	0.334809	0.31071	N	0.008317	T	0.29684	0.0741	N	0.02539	-0.55	0.09310	N	1	P	0.36959	0.575	B	0.26517	0.07	T	0.11717	-1.0576	10	0.27082	T	0.32	-9.211	10.2039	0.43101	0.2115:0.0:0.7885:0.0	.	38	Q8IVU1	IGDC3_HUMAN	Q	38	ENSP00000332773:H38Q	ENSP00000332773:H38Q	H	-	3	2	IGDCC3	63454783	1.000000	0.71417	0.986000	0.45419	0.070000	0.16714	1.676000	0.37565	1.312000	0.45043	0.591000	0.81541	CAC		0.552	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		7	4	1	0	1.06961e-07	0.00308	1.31304e-07	7	4				
DENND4A	10260	broad.mit.edu	37	15	65993503	65993503	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:65993503T>C	ENST00000431932.2	-	19	2795	c.2587A>G	c.(2587-2589)Aga>Gga	p.R863G	DENND4A_ENST00000443035.3_Missense_Mutation_p.R863G	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	863					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTACGACTTCTTGAAGGCCAG	0.299																																							uc002aph.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2587-2589)AGA>GGA		DENN/MADD domain containing 4A isoform 2							76.0	65.0	69.0					15																	65993503		1807	4069	5876	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65993503T>C	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2587A>G	15.37:g.65993503T>C	ENSP00000396830:p.Arg863Gly					DENND4A_uc002api.2_Missense_Mutation_p.R863G|DENND4A_uc002apj.3_Missense_Mutation_p.R863G	p.R863G	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			19	2965	-			863					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.2587A>G	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	T	8.937	0.964873	0.18583	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04917	3.56;3.53	5.98	3.58	0.41010	.	0.396311	0.32719	N	0.005723	T	0.03095	0.0091	N	0.10916	0.065	0.32567	N	0.53033	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36672	-0.9738	10	0.13470	T	0.59	.	7.5308	0.27681	0.0:0.0673:0.2725:0.6601	.	863;863	E7EPL3;Q7Z401	.;MYCPP_HUMAN	G	863	ENSP00000391167:R863G;ENSP00000396830:R863G	ENSP00000396830:R863G	R	-	1	2	DENND4A	63780557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.792000	0.47837	0.450000	0.26774	0.482000	0.46254	AGA		0.299	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		7	11	0	0	0	0.004482	0	7	11				
CLN6	54982	broad.mit.edu	37	15	68504016	68504016	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:68504016C>A	ENST00000249806.5	-	4	640	c.483G>T	c.(481-483)acG>acT	p.T161T	CLN6_ENST00000566347.1_Intron|CLN6_ENST00000418702.2_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Silent_p.T193T|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000564752.1_Silent_p.T161T	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	161					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCTCACCAGCGTCTCCGGCT	0.612																																							uc002arf.2		NA																	0					0						c.(481-483)ACG>ACT		CLN6 protein							126.0	129.0	128.0					15																	68504016		2200	4298	6498	SO:0001819	synonymous_variant	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68504016C>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.483G>T	15.37:g.68504016C>A						CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.T193T	p.T161T	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN			4	641	-			161					A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP	ENST00000249806.5	37	c.483G>T	CCDS10227.1																																																																																				0.612	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		50	72	1	0	5.57489e-27	0.00361	1.06846e-26	50	72				
RPLP1	6176	broad.mit.edu	37	15	69747561	69747561	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:69747561G>T	ENST00000260379.6	+	3	365	c.200G>T	c.(199-201)gGa>gTa	p.G67V	U3_ENST00000384391.1_RNA|RPLP1_ENST00000560274.1_Intron|RPLP1_ENST00000357790.5_Missense_Mutation_p.G42V	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	67					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)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			ovary(1)	1						GGGGCCGGTGGACCTGCTCCA	0.562																																							uc002asd.1		NA																	0					0						c.(199-201)GGA>GTA		ribosomal protein P1 isoform 1							52.0	53.0	53.0					15																	69747561		2199	4298	6497	SO:0001583	missense	6176				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr15:69747561G>T		CCDS10233.1, CCDS10234.1	15q22	2011-07-29			ENSG00000137818	ENSG00000137818		"""L ribosomal proteins"""	10372	protein-coding gene	gene with protein product		180520					Standard	NM_001003		Approved	LP1	uc002asd.1	P05386	OTTHUMG00000133359	ENST00000260379.6:c.200G>T	15.37:g.69747561G>T	ENSP00000346037:p.Gly67Val					RPLP1_uc002ase.1_Missense_Mutation_p.G42V	p.G67V	NM_001003	NP_000994	P05386	RLA1_HUMAN			3	329	+			67					A6NIB2	Missense_Mutation	SNP	ENST00000260379.6	37	c.200G>T	CCDS10233.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978913	0.92982	.	.	ENSG00000137818	ENST00000260379;ENST00000357790	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	M	0.81112	2.525	0.80722	D	1	D;D	0.56968	0.978;0.975	P;P	0.62491	0.864;0.903	T	0.76841	-0.2810	9	0.33940	T	0.23	.	16.9064	0.86130	0.0:0.0:1.0:0.0	.	42;67	A6NIB2;P05386	.;RLA1_HUMAN	V	67;42	.	ENSP00000346037:G67V	G	+	2	0	RPLP1	67534615	1.000000	0.71417	0.871000	0.34182	0.813000	0.45954	9.103000	0.94232	2.594000	0.87642	0.557000	0.71058	GGA		0.562	RPLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257195.2	NM_001003		21	27	1	0	1.64113e-05	0.010504	1.86809e-05	21	27				
MYO9A	4649	broad.mit.edu	37	15	72195371	72195371	+	Nonsense_Mutation	SNP	G	G	A	rs374172306		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:72195371G>A	ENST00000356056.5	-	22	3383	c.2911C>T	c.(2911-2913)Cga>Tga	p.R971*	MYO9A_ENST00000566885.1_Nonsense_Mutation_p.R591*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R971*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R952*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R971*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	971	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R971R(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATAATATTTCGGGGAAGAAGT	0.274																																							uc002atl.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2911-2913)CGA>TGA		myosin IXA		G	stop/ARG	0,4386		0,0,2193	46.0	51.0	49.0		2911	4.8	1.0	15		49	1,8563	1.2+/-3.3	0,1,4281	no	stop-gained	MYO9A	NM_006901.2		0,1,6474	AA,AG,GG		0.0117,0.0,0.0077		971/2549	72195371	1,12949	2193	4282	6475	SO:0001587	stop_gained	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72195371G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2911C>T	15.37:g.72195371G>A	ENSP00000348349:p.Arg971*					MYO9A_uc010biq.2_Nonsense_Mutation_p.R591*|MYO9A_uc002atn.1_Nonsense_Mutation_p.R952*	p.R971*	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			22	3384	-			971			Myosin head-like 2.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.2911C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	43	9.843928	0.99277	0.0	1.17E-4	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	.	.	.	5.8	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	13.522	0.61574	0.0:0.0:0.727:0.273	.	.	.	.	X	971;971;952;952	.	ENSP00000261864:R952X	R	-	1	2	MYO9A	69982425	0.873000	0.30073	1.000000	0.80357	0.744000	0.42396	2.021000	0.41020	2.742000	0.94016	0.655000	0.94253	CGA		0.274	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		5	20	0	0	0	0.001168	0	5	20				
ARIH1	25820	broad.mit.edu	37	15	72873134	72873134	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:72873134G>T	ENST00000379887.4	+	12	1592	c.1278G>T	c.(1276-1278)caG>caT	p.Q426H	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	426					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						ACCACATGCAGAGCCTGCGCT	0.453																																							uc002aut.3		NA																	0					0						c.(1276-1278)CAG>CAT		ariadne ubiquitin-conjugating enzyme E2 binding							127.0	96.0	107.0					15																	72873134		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72873134G>T	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1278G>T	15.37:g.72873134G>T	ENSP00000369217:p.Gln426His						p.Q426H	NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN			12	1592	+			426					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.1278G>T	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081597	0.55753	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.81499	-1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	M	0.68728	2.09	0.80722	D	1	B	0.20671	0.047	B	0.20384	0.029	T	0.74651	-0.3594	10	0.46703	T	0.11	.	13.2915	0.60274	0.0719:0.0:0.9281:0.0	.	426	Q9Y4X5	ARI1_HUMAN	H	426;396	ENSP00000369217:Q426H	ENSP00000299305:Q396H	Q	+	3	2	ARIH1	70660188	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.355000	0.66046	2.763000	0.94921	0.650000	0.86243	CAG		0.453	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		9	23	1	0	0.00448238	0.004482	0.00472109	9	23				
HCN4	10021	broad.mit.edu	37	15	73616435	73616435	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:73616435C>T	ENST00000261917.3	-	7	3131	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	713					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTCACCAATGCGGTCCAGGCG	0.652																																							uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(2137-2139)CGC>CAC		hyperpolarization activated cyclic							50.0	47.0	48.0					15																	73616435		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616435C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2138G>A	15.37:g.73616435C>T	ENSP00000261917:p.Arg713His						p.R713H	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	7	3132	-			713			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2138G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495270	0.64186	.	.	ENSG00000138622	ENST00000261917	T	0.56444	0.46	3.99	3.99	0.46301	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	.	.	.	.	T	0.72170	0.3427	M	0.78637	2.42	0.58432	D	0.999998	D	0.89917	1.0	D	0.70716	0.97	T	0.78272	-0.2268	9	0.87932	D	0	.	16.0902	0.81086	0.0:1.0:0.0:0.0	.	713	Q9Y3Q4	HCN4_HUMAN	H	713	ENSP00000261917:R713H	ENSP00000261917:R713H	R	-	2	0	HCN4	71403488	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.275000	0.78548	1.761000	0.52028	0.313000	0.20887	CGC		0.652	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		19	27	0	0	0	0.006122	0	19	27				
HCN4	10021	broad.mit.edu	37	15	73616437	73616437	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:73616437G>T	ENST00000261917.3	-	7	3129	c.2136C>A	c.(2134-2136)gaC>gaA	p.D712E		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	712					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CACCAATGCGGTCCAGGCGGT	0.652																																							uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(2134-2136)GAC>GAA		hyperpolarization activated cyclic							56.0	51.0	53.0					15																	73616437		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616437G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2136C>A	15.37:g.73616437G>T	ENSP00000261917:p.Asp712Glu						p.D712E	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	7	3130	-			712			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2136C>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634949	0.47049	.	.	ENSG00000138622	ENST00000261917	T	0.48522	0.81	3.99	1.9	0.25705	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	.	.	.	.	T	0.43100	0.1232	M	0.76328	2.33	0.51767	D	0.999934	P	0.42735	0.788	B	0.42163	0.378	T	0.38499	-0.9658	9	0.10111	T	0.7	.	7.8314	0.29344	0.0878:0.0:0.754:0.1582	.	712	Q9Y3Q4	HCN4_HUMAN	E	712	ENSP00000261917:D712E	ENSP00000261917:D712E	D	-	3	2	HCN4	71403490	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.296000	0.33389	0.650000	0.30769	0.313000	0.20887	GAC		0.652	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		19	29	1	0	6.94344e-10	0.006122	9.1297e-10	19	29				
UBE2Q2	92912	broad.mit.edu	37	15	76152291	76152291	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:76152291G>C	ENST00000267938.4	+	3	737	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	UBE2Q2_ENST00000338677.4_Missense_Mutation_p.E119Q|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.E103Q|UBE2Q2_ENST00000569423.1_Intron	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	119					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						CCTGGATGTTGAGATGCTAGA	0.378																																							uc002bbg.2		NA																	0				ovary(2)	2						c.(355-357)GAG>CAG		ubiquitin-conjugating enzyme E2Q 2 isoform 1							88.0	76.0	80.0					15																	76152291		2197	4294	6491	SO:0001583	missense	92912				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr15:76152291G>C	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.355G>C	15.37:g.76152291G>C	ENSP00000267938:p.Glu119Gln					UBE2Q2_uc002bbh.2_Intron|UBE2Q2_uc010umn.1_Missense_Mutation_p.E103Q|UBE2Q2_uc002bbi.2_5'UTR	p.E119Q	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN			3	741	+			119					B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	ENST00000267938.4	37	c.355G>C	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727308	0.89390	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	.	.	.	5.17	5.17	0.71159	RWD domain (1);	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.80847	2.515	0.52099	D	0.999949	P;B	0.43973	0.823;0.417	B;B	0.42062	0.374;0.14	T	0.73369	-0.4004	9	0.52906	T	0.07	.	16.1555	0.81664	0.0:0.0:1.0:0.0	.	103;119	E9PHD0;Q8WVN8	.;UB2Q2_HUMAN	Q	119;119;103	.	ENSP00000267938:E119Q	E	+	1	0	UBE2Q2	73939346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.315000	0.89983	2.431000	0.82371	0.637000	0.83480	GAG		0.378	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		9	16	0	0	0	0.008291	0	9	16				
PEAK1	79834	broad.mit.edu	37	15	77406890	77406890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:77406890C>A	ENST00000560626.2	-	7	5324	c.4849G>T	c.(4849-4851)Gag>Tag	p.E1617*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.E1617*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1617	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TATTCCCTCTCCTTCAGCTCT	0.562																																							uc002bcm.2		NA																	0					0						c.(4849-4851)GAG>TAG		NKF3 kinase family member							109.0	108.0	109.0					15																	77406890		1980	4167	6147	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77406890C>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4849G>T	15.37:g.77406890C>A	ENSP00000452796:p.Glu1617*						p.E1617*	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	6	5157	-			1617			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.4849G>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	47	13.778718	0.99762	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.4514	19.5476	0.95305	0.0:1.0:0.0:0.0	.	.	.	.	X	1617	.	ENSP00000309230:E1617X	E	-	1	0	AC087465.1	75193945	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.629000	0.89072	0.561000	0.74099	GAG		0.562	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			9	12	1	0	7.48243e-07	0.006214	8.9163e-07	9	12				
TBC1D2B	23102	broad.mit.edu	37	15	78316866	78316866	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:78316866G>A	ENST00000300584.3	-	6	1101	c.1102C>T	c.(1102-1104)Ctc>Ttc	p.L368F	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L368F	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	368							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTCTGCTGGAGCAGTCGAACA	0.507																																							uc002bcy.3		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(1102-1104)CTC>TTC		TBC1 domain family, member 2B isoform a							43.0	47.0	46.0					15																	78316866		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78316866G>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1102C>T	15.37:g.78316866G>A	ENSP00000300584:p.Leu368Phe					TBC1D2B_uc010bla.2_Missense_Mutation_p.L368F	p.L368F	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN			6	1102	-			368			Potential.		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.1102C>T	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834246	0.71373	.	.	ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468	T;T	0.25749	1.79;1.78	5.55	3.34	0.38264	.	0.000000	0.64402	D	0.000001	T	0.49541	0.1563	M	0.80847	2.515	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.53885	-0.8375	10	0.87932	D	0	.	9.9856	0.41839	0.2417:0.0:0.7583:0.0	.	368;368	Q9UPU7-2;Q9UPU7	.;TBD2B_HUMAN	F	368;368;256	ENSP00000387165:L368F;ENSP00000300584:L368F	ENSP00000300584:L368F	L	-	1	0	TBC1D2B	76103921	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	1.999000	0.40806	1.336000	0.45506	0.491000	0.48974	CTC		0.507	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		20	19	0	0	0	0.007413	0	20	19				
WDR61	80349	broad.mit.edu	37	15	78585583	78585583	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:78585583C>A	ENST00000267973.2	-	4	343	c.72G>T	c.(70-72)tgG>tgT	p.W24C	WDR61_ENST00000558311.1_Missense_Mutation_p.W24C|RP11-762H8.1_ENST00000560057.1_RNA|WDR61_ENST00000558459.1_Intron			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	24					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TGTTTGTCCCCCAAGCAACTG	0.458																																							uc002bdn.2		NA																	0				ovary(1)|skin(1)	2						c.(70-72)TGG>TGT		WD repeat domain 61							163.0	140.0	148.0					15																	78585583		2196	4293	6489	SO:0001583	missense	80349						protein binding	g.chr15:78585583C>A		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.72G>T	15.37:g.78585583C>A	ENSP00000267973:p.Trp24Cys					WDR61_uc002bdo.2_Missense_Mutation_p.W24C|WDR61_uc010umz.1_RNA|WDR61_uc010una.1_Missense_Mutation_p.W24C	p.W24C	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN			4	148	-			24			WD 1.		D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	c.72G>T	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746449	0.89663	.	.	ENSG00000140395	ENST00000267973	T	0.66280	-0.2	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.954	D	0.86737	0.1952	10	0.87932	D	0	-6.189	19.3129	0.94198	0.0:1.0:0.0:0.0	.	24;24	B4E387;Q9GZS3	.;WDR61_HUMAN	C	24	ENSP00000267973:W24C	ENSP00000267973:W24C	W	-	3	0	WDR61	76372638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.634000	0.83273	2.818000	0.97014	0.655000	0.94253	TGG		0.458	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234		21	54	1	0	1.00905e-13	0.008871	1.49675e-13	21	54				
ADAMTS7	11173	broad.mit.edu	37	15	79058984	79058984	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:79058984C>T	ENST00000388820.4	-	19	3479	c.3269G>A	c.(3268-3270)gGg>gAg	p.G1090E	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1090					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCCCCTGTCCCCGCCAGGTC	0.627																																							uc002bej.3		NA																	0					0						c.(3268-3270)GGG>GAG		ADAM metallopeptidase with thrombospondin type 1							18.0	24.0	22.0					15																	79058984		2187	4278	6465	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058984C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3269G>A	15.37:g.79058984C>T	ENSP00000373472:p.Gly1090Glu					ADAMTS7_uc010und.1_3'UTR	p.G1090E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			19	3480	-			1090					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3269G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	10.24	1.296135	0.23650	.	.	ENSG00000136378	ENST00000388820	T	0.55052	0.54	4.66	-2.73	0.05950	.	0.970519	0.08472	N	0.940804	T	0.40767	0.1130	L	0.47716	1.5	0.09310	N	1	B	0.15930	0.015	B	0.17433	0.018	T	0.30679	-0.9970	10	0.21540	T	0.41	.	8.2375	0.31636	0.1016:0.6984:0.0:0.2	.	1090	Q9UKP4	ATS7_HUMAN	E	1090	ENSP00000373472:G1090E	ENSP00000373472:G1090E	G	-	2	0	ADAMTS7	76846039	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.662000	0.05305	-0.824000	0.04295	-1.712000	0.00714	GGG		0.627	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		11	16	0	0	0	0.000978	0	11	16				
TMED3	23423	broad.mit.edu	37	15	79614395	79614395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:79614395G>T	ENST00000299705.5	+	3	681	c.493G>T	c.(493-495)Gag>Tag	p.E165*	TMED3_ENST00000424155.2_Intron|TMED3_ENST00000558562.1_3'UTR|TMED3_ENST00000536821.1_Intron	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	165					protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						CCGGCTGCGGGAGGCCCAGGA	0.577																																							uc002beu.2		NA																	0				ovary(1)|skin(1)	2						c.(493-495)GAG>TAG		transmembrane emp24 domain containing 3							72.0	69.0	70.0					15																	79614395		2196	4293	6489	SO:0001587	stop_gained	23423				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane		g.chr15:79614395G>T	BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 22"", ""transmembrane emp24 domain containing 3"""	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.493G>T	15.37:g.79614395G>T	ENSP00000299705:p.Glu165*					TMED3_uc010unj.1_Intron|TMED3_uc002bev.2_RNA	p.E165*	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN			3	594	+			165			Lumenal (Potential).		A8K069|B4DN05|Q2T9F8	Nonsense_Mutation	SNP	ENST00000299705.5	37	c.493G>T	CCDS10310.1	.	.	.	.	.	.	.	.	.	.	G	38	6.884549	0.97908	.	.	ENSG00000166557	ENST00000299705	.	.	.	4.86	4.86	0.63082	.	0.062952	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.98	15.532	0.75970	0.0:0.0:1.0:0.0	.	.	.	.	X	165	.	ENSP00000299705:E165X	E	+	1	0	TMED3	77401450	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.068000	0.93961	2.507000	0.84556	0.591000	0.81541	GAG		0.577	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364		19	35	1	0	6.94344e-10	0.006122	9.1297e-10	19	35				
FAH	2184	broad.mit.edu	37	15	80460463	80460463	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:80460463G>A	ENST00000407106.1	+	7	680	c.525G>A	c.(523-525)agG>agA	p.R175R	FAH_ENST00000539156.1_Silent_p.R105R|FAH_ENST00000558627.1_3'UTR|RP11-2E17.2_ENST00000568836.1_lincRNA|FAH_ENST00000561421.1_Silent_p.R175R|FAH_ENST00000261755.5_Silent_p.R175R			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	175					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAATCCGAAGGCCCATGGGAC	0.587									Tyrosinemia, type 1																														uc002bfj.2		NA																	0					0						c.(523-525)AGG>AGA		fumarylacetoacetase							112.0	94.0	101.0					15																	80460463		2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80460463G>A	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.525G>A	15.37:g.80460463G>A						FAH_uc002bfk.1_Silent_p.R175R|FAH_uc002bfm.1_Silent_p.R175R|FAH_uc002bfn.1_Silent_p.R105R	p.R175R	NM_000137	NP_000128	P16930	FAAA_HUMAN			7	607	+			175					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.525G>A	CCDS10314.1																																																																																				0.587	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			14	14	0	0	0	0.00245	0	14	14				
IL16	3603	broad.mit.edu	37	15	81598783	81598783	+	Silent	SNP	G	G	A	rs145510224		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:81598783G>A	ENST00000302987.4	+	17	3702	c.3702G>A	c.(3700-3702)acG>acA	p.T1234T	IL16_ENST00000394660.2_Silent_p.T1233T|IL16_ENST00000394652.2_Silent_p.T533T|RP11-761I4.4_ENST00000607019.1_RNA			Q14005	IL16_HUMAN	interleukin 16	1234	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGTCTGCACGGTGACACTGG	0.572																																							uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(3700-3702)ACG>ACA		interleukin 16 isoform 2		G	,,	0,4406		0,0,2203	128.0	129.0	129.0		3699,1599,3702	-6.9	0.9	15	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	IL16	NM_001172128.1,NM_004513.5,NM_172217.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1233/1332,533/632,1234/1333	81598783	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598783G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3702G>A	15.37:g.81598783G>A						IL16_uc010blq.1_Silent_p.T1188T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.T1275T|IL16_uc002bgg.2_Silent_p.T1233T|IL16_uc002bgi.1_Silent_p.T623T|IL16_uc002bgj.2_Silent_p.T727T|IL16_uc002bgk.2_Silent_p.T533T|IL16_uc002bgl.1_Silent_p.T533T|IL16_uc010unq.1_Silent_p.T532T	p.T1234T	NM_172217	NP_757366	Q14005	IL16_HUMAN			18	4078	+			1234			PDZ 4.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.3702G>A	CCDS42069.1																																																																																				0.572	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		54	72	0	0	0	0.00361	0	54	72				
EFTUD1	79631	broad.mit.edu	37	15	82422771	82422771	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:82422771C>A	ENST00000268206.7	-	20	3474	c.3306G>T	c.(3304-3306)gtG>gtT	p.V1102V	EFTUD1_ENST00000359445.3_Silent_p.V1051V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	1102					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCTTTTCTTCCACATAAAGCC	0.443																																							uc002bgt.1		NA																	0				ovary(1)	1						c.(3304-3306)GTG>GTT		elongation factor Tu GTP binding domain							146.0	135.0	138.0					15																	82422771		1902	4131	6033	SO:0001819	synonymous_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82422771C>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.3306G>T	15.37:g.82422771C>A						EFTUD1_uc002bgs.1_Silent_p.V473V|EFTUD1_uc002bgu.1_Silent_p.V1051V	p.V1102V	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			20	3475	-			1102					A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	c.3306G>T	CCDS42071.1																																																																																				0.443	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		28	26	1	0	4.22769e-11	0.00632	5.86768e-11	28	26				
ADAMTSL3	57188	broad.mit.edu	37	15	84442319	84442319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:84442319G>A	ENST00000286744.5	+	4	458	c.234G>A	c.(232-234)tgG>tgA	p.W78*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.W78*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	78	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGGCAACTGGGATGCTTGGG	0.458																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(232-234)TGG>TGA		ADAMTS-like 3 precursor							135.0	126.0	129.0					15																	84442319		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84442319G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.234G>A	15.37:g.84442319G>A	ENSP00000286744:p.Trp78*					ADAMTSL3_uc002bjy.1_Nonsense_Mutation_p.W78*|ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.W78*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.W78*	p.W78*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		4	458	+			78			TSP type-1 1.		A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.234G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	38	6.801258	0.97849	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2168	0.86946	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	ENSP00000286744:W78X	W	+	3	0	ADAMTSL3	82233323	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.511000	0.81718	2.587000	0.87381	0.585000	0.79938	TGG		0.458	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		17	22	0	0	0	0.007413	0	17	22				
NTRK3	4916	broad.mit.edu	37	15	88576188	88576188	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:88576188A>C	ENST00000360948.2	-	13	1646	c.1485T>G	c.(1483-1485)gaT>gaG	p.D495E	NTRK3_ENST00000317501.3_Missense_Mutation_p.D495E|NTRK3_ENST00000557856.1_Missense_Mutation_p.D487E|NTRK3_ENST00000558676.1_Missense_Mutation_p.D487E|NTRK3_ENST00000542733.2_Missense_Mutation_p.D397E|NTRK3_ENST00000355254.2_Missense_Mutation_p.D495E|NTRK3_ENST00000394480.2_Missense_Mutation_p.D495E|NTRK3_ENST00000357724.2_Missense_Mutation_p.D487E|NTRK3_ENST00000540489.2_Missense_Mutation_p.D495E|NTRK3_ENST00000558306.1_5'UTR	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	495					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CGGGCCCGGCATCCAGTGACG	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1483-1485)GAT>GAG		neurotrophic tyrosine kinase, receptor, type 3							98.0	64.0	75.0					15																	88576188		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576188A>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1485T>G	15.37:g.88576188A>C	ENSP00000354207:p.Asp495Glu	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.D487E|NTRK3_uc002bmf.1_Missense_Mutation_p.D495E|NTRK3_uc010upl.1_Missense_Mutation_p.D397E|NTRK3_uc010bnh.1_Missense_Mutation_p.D487E|NTRK3_uc002bmg.2_Missense_Mutation_p.D495E|NTRK3_uc010bni.2_RNA	p.D495E	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1647	-			495			Cytoplasmic (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1485T>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	0.037	-1.302208	0.01353	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.71934	-0.61;-0.57;-0.61;-0.61;-0.5;0.38;0.38	4.91	-6.85	0.01681	.	0.047454	0.85682	D	0.000000	T	0.59932	0.2230	N	0.10945	0.07	0.40240	D	0.977949	D;D;B;P;D;B	0.67145	0.994;0.994;0.015;0.952;0.996;0.015	D;D;B;P;D;B	0.77557	0.978;0.978;0.019;0.452;0.99;0.019	T	0.71971	-0.4431	10	0.02654	T	1	.	16.6747	0.85275	0.6677:0.0:0.3323:0.0	.	397;487;487;495;495;495	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	E	495;495;487;495;397;495;495	ENSP00000377990:D495E;ENSP00000354207:D495E;ENSP00000350356:D487E;ENSP00000347397:D495E;ENSP00000437773:D397E;ENSP00000444673:D495E;ENSP00000318328:D495E	ENSP00000318328:D495E	D	-	3	2	NTRK3	86377192	0.004000	0.15560	0.006000	0.13384	0.164000	0.22412	-1.323000	0.02692	-1.946000	0.01035	-1.025000	0.02430	GAT		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				11	13	0	0	0	0.001368	0	11	13				
ISG20	3669	broad.mit.edu	37	15	89198669	89198669	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:89198669G>T	ENST00000306072.5	+	4	811	c.453G>T	c.(451-453)tcG>tcT	p.S151S	ISG20_ENST00000560741.1_Silent_p.S151S|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	151					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GACACAGCTCGGTGGAAGATG	0.592																																							uc002bmv.1		NA																	0					0						c.(451-453)TCG>TCT		interferon stimulated exonuclease							68.0	68.0	68.0					15																	89198669		2200	4299	6499	SO:0001819	synonymous_variant	3669				cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	g.chr15:89198669G>T	X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"""interferon stimulated gene (20kD)"""			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.453G>T	15.37:g.89198669G>T						ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	p.S151S	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.12)		4	746	+	Lung NSC(78;0.0554)|all_lung(78;0.103)		151					O00441|O00586	Silent	SNP	ENST00000306072.5	37	c.453G>T	CCDS10345.1																																																																																				0.592	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309069.2	NM_002201		20	21	1	0	8.10497e-08	0.010504	9.99262e-08	20	21				
ACAN	176	broad.mit.edu	37	15	89398775	89398775	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:89398775C>A	ENST00000561243.1	+	11	2959	c.2959C>A	c.(2959-2961)Cct>Act	p.P987T	ACAN_ENST00000559004.1_Missense_Mutation_p.P987T|ACAN_ENST00000352105.7_Missense_Mutation_p.P987T|ACAN_ENST00000439576.2_Missense_Mutation_p.P987T			P16112	PGCA_HUMAN	aggrecan	986	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACCACTGCCCCTGGAGTAGA	0.542																																							uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2959-2961)CCT>ACT		aggrecan isoform 2 precursor							85.0	85.0	85.0					15																	89398775		1798	4068	5866	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398775C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2959C>A	15.37:g.89398775C>A	ENSP00000453342:p.Pro987Thr					ACAN_uc010upp.1_Missense_Mutation_p.P987T|ACAN_uc002bna.2_Intron	p.P987T	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3333	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		987					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2959C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	1.382	-0.583185	0.03827	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.94138	-3.36;-3.36	3.95	1.59	0.23543	.	.	.	.	.	T	0.81955	0.4932	N	0.14661	0.345	0.19775	N	0.999958	B;P	0.46220	0.425;0.874	B;B	0.40329	0.326;0.297	T	0.74893	-0.3509	9	0.06365	T	0.9	-8.7221	5.1713	0.15112	0.1609:0.0986:0.0:0.7404	.	987;987	E7ENV9;E7EX88	.;.	T	987	ENSP00000387356:P987T;ENSP00000341615:P987T	ENSP00000268134:P987T	P	+	1	0	ACAN	87199779	0.024000	0.19004	0.777000	0.31699	0.015000	0.08874	0.740000	0.26188	0.222000	0.20900	-1.486000	0.00981	CCT		0.542	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		52	88	1	0	7.05995e-25	0.00361	1.32107e-24	52	88				
TMEM8A	58986	broad.mit.edu	37	16	424377	424377	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:424377C>A	ENST00000431232.2	-	10	1759	c.1599G>T	c.(1597-1599)acG>acT	p.T533T	TMEM8A_ENST00000250930.3_Silent_p.T340T|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	533	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGCTGTTGTCCGTGCAGCTCC	0.682											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc002cgu.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(1597-1599)ACG>ACT		transmembrane protein 8 (five membrane-spanning							59.0	61.0	61.0					16																	424377		2198	4298	6496	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:424377C>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1599G>T	16.37:g.424377C>A			OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	TMEM8A_uc002cgv.3_Silent_p.T340T	p.T533T	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN			10	1728	-			533			EGF-like.|Extracellular (Potential).		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.1599G>T	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	3.632	-0.075428	0.07184	.	.	ENSG00000129925	ENST00000424078	.	.	.	3.6	-7.19	0.01500	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37314	-0.9711	4	.	.	.	-1.179	0.8004	0.01074	0.1851:0.2042:0.2725:0.3382	.	.	.	.	L	40	.	.	R	-	2	0	TMEM8A	364378	0.000000	0.05858	0.822000	0.32727	0.514000	0.34195	-4.991000	0.00162	-1.833000	0.01195	-0.344000	0.07964	CGG		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		10	23	1	0	0.000442599	0.006214	0.000474237	10	23				
PKD1	5310	broad.mit.edu	37	16	2156625	2156625	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:2156625G>A	ENST00000262304.4	-	18	7471	c.7263C>T	c.(7261-7263)acC>acT	p.T2421T	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.T2421T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2421	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1). {ECO:0000269|PubMed:11857740}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGTGGATGTGGTGGTCTCAT	0.672																																							uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(7261-7263)ACC>ACT		polycystin 1 isoform 1 precursor																																				SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2156625G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7263C>T	16.37:g.2156625G>A						PKD1_uc002cot.1_Silent_p.T2421T|PKD1_uc010bse.1_5'Flank	p.T2421T	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			18	7472	-			2421		Missing (in ADPKD1).	Extracellular (Potential).|REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.7263C>T	CCDS32369.1																																																																																				0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			6	13	0	0	0	0.001984	0	6	13				
ZSCAN10	84891	broad.mit.edu	37	16	3140419	3140419	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:3140419G>T	ENST00000252463.2	-	5	938	c.851C>A	c.(850-852)cCc>cAc	p.P284H	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	284					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						ATTGGGCTCGGGGACGCCCTC	0.657																																							uc002ctv.1		NA																	0				ovary(1)	1						c.(850-852)CCC>CAC		zinc finger and SCAN domain containing 10							68.0	71.0	70.0					16																	3140419		2180	4270	6450	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140419G>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.851C>A	16.37:g.3140419G>T	ENSP00000252463:p.Pro284His					ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.P202H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.P212H	p.P284H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	939	-			284					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.851C>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960788	0.34565	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.06449	3.3	4.56	1.2	0.21068	.	1.415250	0.04617	N	0.401312	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	P;P	0.36438	0.553;0.553	B;B	0.40901	0.343;0.258	T	0.35674	-0.9779	10	0.54805	T	0.06	-1.2691	3.4639	0.07543	0.1017:0.1691:0.5557:0.1735	.	217;284	Q1WWM2;Q96SZ4	.;ZSC10_HUMAN	H	217;284	ENSP00000252463:P284H	ENSP00000252463:P284H	P	-	2	0	ZSCAN10	3080420	0.010000	0.17322	0.001000	0.08648	0.122000	0.20287	1.050000	0.30404	0.895000	0.36342	0.563000	0.77884	CCC		0.657	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		32	44	1	0	2.48696e-23	0.003271	4.55782e-23	32	44				
RBFOX1	54715	broad.mit.edu	37	16	7657325	7657325	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:7657325C>A	ENST00000550418.1	+	10	1649	c.661C>A	c.(661-663)Ccc>Acc	p.P221T	RBFOX1_ENST00000547338.1_Missense_Mutation_p.P221T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P241T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P241T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P178T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P238T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P264T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P221T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P241T|RBFOX1_ENST00000340209.4_Missense_Mutation_p.P226T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P264T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	221					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGTCTACAGTCCCGAATTCTA	0.348																																					Ovarian(157;934 2567 15163 39509)		uc002cys.2		NA																	0					0						c.(661-663)CCC>ACC		ataxin 2-binding protein 1 isoform 4							196.0	178.0	184.0					16																	7657325		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7657325C>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.661C>A	16.37:g.7657325C>A	ENSP00000450031:p.Pro221Thr					A2BP1_uc010buf.1_Missense_Mutation_p.P221T|A2BP1_uc002cyr.1_Missense_Mutation_p.P220T|A2BP1_uc002cyt.2_Missense_Mutation_p.P221T|A2BP1_uc010uxz.1_Missense_Mutation_p.P264T|A2BP1_uc010uya.1_Missense_Mutation_p.P178T|A2BP1_uc002cyv.1_Missense_Mutation_p.P221T|A2BP1_uc010uyb.1_Missense_Mutation_p.P221T|A2BP1_uc002cyw.2_Missense_Mutation_p.P241T|A2BP1_uc002cyy.2_Missense_Mutation_p.P241T|A2BP1_uc002cyx.2_Missense_Mutation_p.P241T|A2BP1_uc010uyc.1_Missense_Mutation_p.P241T	p.P221T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	10	1649	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	221					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.661C>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712288	0.68730	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.42900	1.43;0.98;1.26;1.26;1.23;1.37;0.98;1.06;1.17;1.14;0.96	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	L	0.52905	1.665	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998;1.0;0.995;0.997;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.982;0.999;0.996;0.956;0.976;0.996;0.936;0.964;0.987	T	0.63292	-0.6670	10	0.72032	D	0.01	-9.389	17.8771	0.88828	0.0:1.0:0.0:0.0	.	241;178;264;241;241;241;221;221;264	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	T	220;221;221;264;264;178;238;221;221;241;241;241;241;226	ENSP00000450402:P220T;ENSP00000450031:P221T;ENSP00000447753:P221T;ENSP00000446842:P264T;ENSP00000391269:P264T;ENSP00000447281:P221T;ENSP00000447717:P221T;ENSP00000402745:P241T;ENSP00000309117:P241T;ENSP00000347855:P241T;ENSP00000344196:P226T	ENSP00000309117:P241T	P	+	1	0	RBFOX1	7597326	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	6.428000	0.73383	2.573000	0.86826	0.555000	0.69702	CCC		0.348	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		22	32	1	0	4.72057e-08	0.003954	5.8453e-08	22	32				
GRIN2A	2903	broad.mit.edu	37	16	9943701	9943701	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:9943701C>T	ENST00000396573.2	-	6	1549	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	GRIN2A_ENST00000396575.2_Missense_Mutation_p.A414T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A414T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A414T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A257T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A414T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	414					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACGAATGGGGCCTCCTCCAGG	0.582																																							uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1240-1242)GCC>ACC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						179.0	142.0	154.0					16																	9943701		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.chr16:9943701C>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.1240G>A	16.37:g.9943701C>T	ENSP00000379818:p.Ala414Thr					GRIN2A_uc010uym.1_Missense_Mutation_p.A414T|GRIN2A_uc010uyn.1_Missense_Mutation_p.A257T|GRIN2A_uc002czr.3_Missense_Mutation_p.A414T	p.A414T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			5	1788	-			414			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1240G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186850	0.57909	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.22	5.22	0.72569	.	0.104265	0.64402	D	0.000003	T	0.15998	0.0385	M	0.65498	2.005	0.39933	D	0.974312	B;B;P	0.38565	0.092;0.251;0.637	B;B;B	0.28465	0.04;0.031;0.09	T	0.06991	-1.0796	9	.	.	.	.	17.7785	0.88516	0.0:1.0:0.0:0.0	.	257;414;414	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	414;414;257;414;414	ENSP00000379818:A414T;ENSP00000385872:A414T;ENSP00000441572:A257T;ENSP00000332549:A414T;ENSP00000379820:A414T	.	A	-	1	0	GRIN2A	9851202	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.717000	0.54911	2.430000	0.82344	0.655000	0.94253	GCC		0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	52	0	0	0	0.001168	0	6	52				
NPIPA1	9284	broad.mit.edu	37	16	15045757	15045757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:15045757G>T	ENST00000328085.6	+	8	928	c.928G>T	c.(928-930)Gag>Tag	p.E310*	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	310	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											GACACCTCCCGAGTGTCTGCT	0.557																																							uc002dcy.3		NA																	0					0						c.(928-930)GAG>TAG		nuclear pore complex interacting protein							13.0	17.0	16.0					16																	15045757		1249	2259	3508	SO:0001587	stop_gained	9284				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		g.chr16:15045757G>T	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.928G>T	16.37:g.15045757G>T	ENSP00000331843:p.Glu310*					NPIP_uc002dcx.3_RNA	p.E310*	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN			8	928	+			310			Pro-rich.		O15102	Nonsense_Mutation	SNP	ENST00000328085.6	37	c.928G>T	CCDS10557.1	.	.	.	.	.	.	.	.	.	.	.	0.531	-0.858020	0.02610	.	.	ENSG00000183426	ENST00000432470;ENST00000328085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44359	D	0.997259	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	.	.	.	.	.	.	.	X	310	.	ENSP00000331843:E310X	E	+	1	0	NPIP	14953258	0.011000	0.17503	0.004000	0.12327	0.004000	0.04260	0.136000	0.15974	-1.666000	0.01475	-1.681000	0.00736	GAG		0.557	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		14	32	1	0	7.45023e-12	0.010504	1.05458e-11	14	32				
C16orf62	57020	broad.mit.edu	37	16	19584460	19584460	+	Missense_Mutation	SNP	G	G	A	rs534959158		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:19584460G>A	ENST00000251143.5	+	4	317	c.305G>A	c.(304-306)cGt>cAt	p.R102H	C16orf62_ENST00000438132.3_Missense_Mutation_p.R191H|C16orf62_ENST00000417362.2_Missense_Mutation_p.R102H|C16orf62_ENST00000542263.1_Missense_Mutation_p.R191H|C16orf62_ENST00000538853.1_Missense_Mutation_p.R191H			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	102						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGAAGGAAACGTGATAGAGAT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16097	0.0		0.0	False		,,,				2504	0.0						uc002dgn.1		NA																	0				ovary(1)	1						c.(304-306)CGT>CAT		hypothetical protein LOC57020							132.0	130.0	131.0					16																	19584460		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19584460G>A		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.305G>A	16.37:g.19584460G>A	ENSP00000251143:p.Arg102His					C16orf62_uc002dgo.1_Missense_Mutation_p.R102H|C16orf62_uc010vas.1_Translation_Start_Site|C16orf62_uc002dgm.1_Missense_Mutation_p.R102H	p.R102H	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			4	317	+			102					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.305G>A		.	.	.	.	.	.	.	.	.	.	G	14.13	2.444957	0.43429	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.48836	1.49;0.8;1.49;1.49;1.49	5.32	5.32	0.75619	.	0.294944	0.30419	N	0.009667	T	0.39064	0.1064	L	0.36672	1.1	0.80722	D	1	D;P;B	0.54047	0.964;0.771;0.159	B;B;B	0.43082	0.407;0.195;0.026	T	0.21381	-1.0247	10	0.41790	T	0.15	-6.1474	11.4661	0.50239	0.0819:0.0:0.9181:0.0	.	191;102;191	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	H	191;191;191;102;102	ENSP00000400815:R191H;ENSP00000444363:R191H;ENSP00000442468:R191H;ENSP00000251143:R102H;ENSP00000395973:R102H	ENSP00000251143:R102H	R	+	2	0	C16orf62	19491961	1.000000	0.71417	0.966000	0.40874	0.378000	0.30076	5.260000	0.65490	2.488000	0.83962	0.557000	0.71058	CGT		0.403	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		32	38	0	0	0	0.002836	0	32	38				
GPRC5B	51704	broad.mit.edu	37	16	19883423	19883423	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:19883423C>T	ENST00000300571.2	-	2	936	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	249					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)			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						GTCATCCAGGCCACCCAGATG	0.622																																							uc002dgt.2		NA																	0				lung(1)|breast(1)|skin(1)	3						c.(745-747)GCC>ACC		G protein-coupled receptor, family C, group 5,							103.0	106.0	105.0					16																	19883423		2197	4300	6497	SO:0001583	missense	51704							g.chr16:19883423C>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.745G>A	16.37:g.19883423C>T	ENSP00000300571:p.Ala249Thr					GPRC5B_uc010vav.1_Missense_Mutation_p.A275T	p.A249T	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN			2	853	-			249			Helical; Name=6; (Potential).		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.745G>A	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371618	0.61624	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89270	-2.49;-2.49;-2.49	5.44	2.43	0.29744	GPCR, family 3, C-terminal (2);	0.185119	0.47093	N	0.000251	D	0.85031	0.5604	L	0.59436	1.845	0.48135	D	0.999599	B;P	0.36683	0.125;0.565	B;B	0.37015	0.043;0.239	T	0.79279	-0.1869	9	.	.	.	.	10.1545	0.42814	0.0:0.7848:0.0:0.2152	.	275;249	B7Z831;Q9NZH0	.;GPC5B_HUMAN	T	249;249;98;275	ENSP00000300571:A249T;ENSP00000442858:A249T;ENSP00000441775:A275T	.	A	-	1	0	GPRC5B	19790924	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.802000	0.62539	0.414000	0.25790	0.655000	0.94253	GCC		0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			9	30	0	0	0	0.004482	0	9	30				
GPR139	124274	broad.mit.edu	37	16	20043302	20043302	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:20043302G>T	ENST00000570682.1	-	2	1117	c.817C>A	c.(817-819)Cta>Ata	p.L273I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	273					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						AGAAGGGCTAGCATGTTGGCA	0.547																																							uc002dgu.1		NA																	0				ovary(2)	2						c.(817-819)CTA>ATA		G protein-coupled receptor 139							86.0	87.0	87.0					16																	20043302		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043302G>T	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.817C>A	16.37:g.20043302G>T	ENSP00000458791:p.Leu273Ile					GPR139_uc010vaw.1_Missense_Mutation_p.L180I	p.L273I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	979	-			273			Helical; Name=7; (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.817C>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255707	0.59321	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.84	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.50650	0.1628	L	0.46157	1.445	0.49915	D	0.999834	P	0.46277	0.875	P	0.48815	0.591	T	0.48281	-0.9049	9	0.72032	D	0.01	-18.3907	8.3757	0.32442	0.3047:0.0:0.6953:0.0	.	273	Q6DWJ6	GP139_HUMAN	I	273	.	ENSP00000370779:L273I	L	-	1	2	GPR139	19950803	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.501000	0.66950	0.343000	0.23821	0.655000	0.94253	CTA		0.547	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		27	37	1	0	2.27525e-19	0.003954	3.91773e-19	27	37				
GP2	2813	broad.mit.edu	37	16	20335515	20335515	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:20335515G>T	ENST00000381362.4	-	3	234	c.158C>A	c.(157-159)aCc>aAc	p.T53N	GP2_ENST00000302555.5_Missense_Mutation_p.T53N|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	53					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCTCTGGGGTGCCAGGAGC	0.557																																							uc002dgv.2		NA																	0				ovary(3)|skin(1)	4						c.(157-159)ACC>AAC		zymogen granule membrane glycoprotein 2 isoform							51.0	50.0	50.0					16																	20335515		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335515G>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.158C>A	16.37:g.20335515G>T	ENSP00000370767:p.Thr53Asn					GP2_uc002dgw.2_Missense_Mutation_p.T53N|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	p.T53N	NM_001007240	NP_001007241	P55259	GP2_HUMAN			3	241	-			53					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.158C>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350921	0.24512	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.95447	-3.71;-3.71	4.18	3.23	0.37069	.	.	.	.	.	D	0.91690	0.7373	L	0.29908	0.895	0.20563	N	0.999884	P;B	0.43701	0.815;0.006	P;B	0.45829	0.494;0.003	D	0.84394	0.0556	9	0.40728	T	0.16	-15.2877	5.7609	0.18199	0.1072:0.1978:0.695:0.0	.	53;53	P55259-3;P55259	.;GP2_HUMAN	N	53	ENSP00000304044:T53N;ENSP00000370767:T53N	ENSP00000304044:T53N	T	-	2	0	GP2	20243016	0.109000	0.22037	0.023000	0.16930	0.123000	0.20343	0.903000	0.28475	0.960000	0.38005	0.411000	0.27672	ACC		0.557	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		16	30	1	0	1.99824e-07	0.00499	2.41963e-07	16	30				
PDILT	204474	broad.mit.edu	37	16	20386194	20386194	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:20386194C>T	ENST00000302451.4	-	5	879	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	211					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CGCCCAATGACATTGCCAATC	0.433																																							uc002dhc.1		NA																	0				large_intestine(1)	1						c.(631-633)GTC>ATC		protein disulfide isomerase-like, testis							191.0	163.0	172.0					16																	20386194		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20386194C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.631G>A	16.37:g.20386194C>T	ENSP00000305465:p.Val211Ile						p.V211I	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			5	854	-			211					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.631G>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	7.674	0.687622	0.14973	.	.	ENSG00000169340	ENST00000302451	T	0.34859	1.34	4.15	-2.74	0.05932	Thioredoxin-like fold (2);	0.697598	0.14714	N	0.302773	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.20955	0.032	T	0.25916	-1.0118	10	0.18276	T	0.48	.	5.3174	0.15862	0.1512:0.3152:0.0:0.5336	.	211	Q8N807	PDILT_HUMAN	I	211	ENSP00000305465:V211I	ENSP00000305465:V211I	V	-	1	0	PDILT	20293695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.154000	0.03166	-0.474000	0.06862	-0.793000	0.03317	GTC		0.433	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		29	48	0	0	0	0.008361	0	29	48				
DNAH3	55567	broad.mit.edu	37	16	20996710	20996710	+	Missense_Mutation	SNP	C	C	A	rs181641902		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:20996710C>A	ENST00000261383.3	-	48	7353	c.7354G>T	c.(7354-7356)Gca>Tca	p.A2452S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2452	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCTCGTATGCGTTCATGAAT	0.547																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7354-7356)GCA>TCA		dynein, axonemal, heavy chain 3							61.0	45.0	50.0					16																	20996710		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20996710C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7354G>T	16.37:g.20996710C>A	ENSP00000261383:p.Ala2452Ser					DNAH3_uc010vbd.1_5'Flank	p.A2452S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7354	-			2452			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7354G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	7.907	0.735633	0.15574	.	.	ENSG00000158486	ENST00000261383	T	0.38887	1.11	5.51	-1.2	0.09554	Dynein heavy chain, P-loop containing D4 domain (1);	1.286350	0.05237	N	0.511527	T	0.11836	0.0288	N	0.00507	-1.42	0.29473	N	0.856918	B	0.06786	0.001	B	0.06405	0.002	T	0.14420	-1.0473	10	0.22109	T	0.4	.	2.7259	0.05214	0.3265:0.2981:0.0608:0.3146	.	2452	Q8TD57	DYH3_HUMAN	S	2452	ENSP00000261383:A2452S	ENSP00000261383:A2452S	A	-	1	0	DNAH3	20904211	0.560000	0.26570	0.314000	0.25224	0.823000	0.46562	0.038000	0.13862	-0.533000	0.06323	-1.179000	0.01719	GCA		0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		9	14	1	0	0.000274275	0.004482	0.000296559	9	14				
ERN2	10595	broad.mit.edu	37	16	23718351	23718351	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:23718351C>A	ENST00000457008.2	-	5	394	c.356G>T	c.(355-357)aGc>aTc	p.S119I	ERN2_ENST00000256797.4_Missense_Mutation_p.S167I					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCATCAGAGCTGCGGCAGGG	0.542																																							uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(499-501)AGC>ATC		endoplasmic reticulum to nucleus signalling 2							77.0	71.0	73.0					16																	23718351		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718351C>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.356G>T	16.37:g.23718351C>A	ENSP00000413812:p.Ser119Ile					ERN2_uc010bxp.2_Missense_Mutation_p.S167I|ERN2_uc010bxq.1_5'UTR	p.S167I	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	669	-			119			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.500G>T		.	.	.	.	.	.	.	.	.	.	C	23.7	4.448562	0.84101	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.58506	0.33;0.33	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.86651	2.83	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.81858	-0.0739	10	0.52906	T	0.07	.	16.5704	0.84611	0.0:1.0:0.0:0.0	.	119;119	E7ETG2;A5YM65	.;.	I	167;119	ENSP00000256797:S167I;ENSP00000413812:S119I	ENSP00000256797:S167I	S	-	2	0	ERN2	23625852	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.714000	0.74692	2.507000	0.84556	0.557000	0.71058	AGC		0.542	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			14	15	1	0	2.31682e-05	0.003163	2.61838e-05	14	15				
PRKCB	5579	broad.mit.edu	37	16	24196448	24196448	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:24196448C>A	ENST00000321728.7	+	14	1725	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	PRKCB_ENST00000303531.7_Missense_Mutation_p.P517H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	517	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)	GCTTATCAGCCCTATGGGAAG	0.428																																							uc002dmd.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1549-1551)CCC>CAC		protein kinase C, beta isoform 1	Vitamin E(DB00163)						180.0	167.0	171.0					16																	24196448		2197	4300	6497	SO:0001583	missense	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.chr16:24196448C>A	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.1550C>A	16.37:g.24196448C>A	ENSP00000318315:p.Pro517His					PRKCB_uc002dme.2_Missense_Mutation_p.P517H	p.P517H	NM_212535	NP_997700	P05771	KPCB_HUMAN			14	1747	+			517			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1550C>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774723	0.90108	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.65364	-0.15;-0.15	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76821	0.4041	L	0.58302	1.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.78448	-0.2200	10	0.62326	D	0.03	.	17.7723	0.88496	0.0:1.0:0.0:0.0	.	517;517	P05771-2;P05771	.;KPCB_HUMAN	H	517	ENSP00000318315:P517H;ENSP00000305355:P517H	ENSP00000305355:P517H	P	+	2	0	PRKCB	24103949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.500000	0.84329	0.650000	0.86243	CCC		0.428	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		26	44	1	0	1.42536e-11	0.004656	2.00564e-11	26	44				
AQP8	343	broad.mit.edu	37	16	25235842	25235842	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:25235842G>T	ENST00000219660.5	+	4	672	c.547G>T	c.(547-549)Ggc>Tgc	p.G183C	AQP8_ENST00000566125.1_Missense_Mutation_p.G177C	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	183					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.G183C(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAAGACAAAGGGCCCTCTGGC	0.622																																							uc002doc.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3						c.(547-549)GGC>TGC		aquaporin 8							87.0	72.0	77.0					16																	25235842		2197	4300	6497	SO:0001583	missense	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25235842G>T	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.547G>T	16.37:g.25235842G>T	ENSP00000219660:p.Gly183Cys						p.G183C	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	4	629	+			183			Cytoplasmic (Potential).		Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	37	c.547G>T	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689983	0.29962	.	.	ENSG00000103375	ENST00000219660	D	0.88818	-2.43	5.49	-1.93	0.07594	Aquaporin-like (2);	0.321813	0.38778	N	0.001570	D	0.90310	0.6969	M	0.86740	2.835	0.09310	N	1	D	0.55800	0.973	P	0.56474	0.799	T	0.81953	-0.0697	10	0.87932	D	0	-0.4125	1.3549	0.02180	0.4611:0.1529:0.231:0.1549	.	183	O94778	AQP8_HUMAN	C	183	ENSP00000219660:G183C	ENSP00000219660:G183C	G	+	1	0	AQP8	25143343	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.758000	0.38410	-0.176000	0.10707	-0.868000	0.02995	GGC		0.622	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		11	19	1	0	0.000978159	0.000978	0.0010387	11	19				
GTF3C1	2975	broad.mit.edu	37	16	27480842	27480842	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:27480842T>A	ENST00000356183.4	-	32	4859	c.4844A>T	c.(4843-4845)gAc>gTc	p.D1615V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1615V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1615	Asp/Glu-rich (acidic).				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)			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						TTCATCCTCGTCATCCTCCAG	0.587																																							uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(4843-4845)GAC>GTC		general transcription factor IIIC, polypeptide							172.0	147.0	156.0					16																	27480842		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27480842T>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.4844A>T	16.37:g.27480842T>A	ENSP00000348510:p.Asp1615Val					GTF3C1_uc002dou.2_Missense_Mutation_p.D1615V	p.D1615V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			32	4884	-			1615			Asp/Glu-rich (acidic).		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4844A>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714569	0.48622	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27104	1.69	4.11	4.11	0.48088	.	0.137716	0.48767	D	0.000161	T	0.45836	0.1362	M	0.72118	2.19	0.58432	D	0.999998	P;D	0.67145	0.704;0.996	B;P	0.62298	0.346;0.9	T	0.49890	-0.8891	10	0.72032	D	0.01	-16.7412	12.7944	0.57551	0.0:0.0:0.0:1.0	.	1615;1615	Q12789;Q12789-3	TF3C1_HUMAN;.	V	1615;1611	ENSP00000348510:D1615V	ENSP00000348510:D1615V	D	-	2	0	GTF3C1	27388343	1.000000	0.71417	0.372000	0.25991	0.084000	0.17831	7.485000	0.81204	1.502000	0.48669	0.402000	0.26972	GAC		0.587	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		34	35	0	0	0	0.004289	0	34	35				
XPO6	23214	broad.mit.edu	37	16	28164033	28164033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:28164033G>A	ENST00000304658.5	-	8	1671	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	XPO6_ENST00000561488.1_5'Flank|XPO6_ENST00000565698.1_Nonsense_Mutation_p.Q377*	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	391					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACAGGGAACTGGGAGTAAGAC	0.403																																							uc002dpa.1		NA																	0				ovary(1)|skin(1)	2						c.(1171-1173)CAG>TAG		exportin 6							84.0	76.0	78.0					16																	28164033		1859	4099	5958	SO:0001587	stop_gained	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28164033G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1171C>T	16.37:g.28164033G>A	ENSP00000302790:p.Gln391*					XPO6_uc002dpb.1_Nonsense_Mutation_p.Q377*|XPO6_uc010vcp.1_Nonsense_Mutation_p.Q391*	p.Q391*	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			8	1672	-			391					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Nonsense_Mutation	SNP	ENST00000304658.5	37	c.1171C>T	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	43	10.075011	0.99331	.	.	ENSG00000169180	ENST00000304658	.	.	.	5.71	4.73	0.59995	.	0.056260	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-9.2129	14.278	0.66194	0.0:0.15:0.85:0.0	.	.	.	.	X	391	.	ENSP00000302790:Q391X	Q	-	1	0	XPO6	28071534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.433000	0.73404	1.369000	0.46134	0.655000	0.94253	CAG		0.403	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		10	24	0	0	0	0.008291	0	10	24				
SRCAP	10847	broad.mit.edu	37	16	30718950	30718950	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:30718950C>T	ENST00000262518.4	+	6	935	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	SRCAP_ENST00000344771.4_Missense_Mutation_p.R184W|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.R184W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	184	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAACGGGCCCGGAGGGAGGA	0.587																																							uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(550-552)CGG>TGG		Snf2-related CBP activator protein							90.0	66.0	74.0					16																	30718950		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30718950C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.550C>T	16.37:g.30718950C>T	ENSP00000262518:p.Arg184Trp					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R41W|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank	p.R184W	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		6	935	+			184			HSA.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.550C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275889	0.40294	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91237	-2.81;-2.8;-2.8	5.29	1.93	0.25924	Helicase/SANT-associated, DNA binding (1);HSA (1);	0.169614	0.28409	N	0.015459	D	0.90909	0.7143	L	0.29908	0.895	0.37362	D	0.911257	D;D	0.76494	0.999;0.999	D;D	0.68765	0.932;0.96	D	0.92057	0.5653	10	0.87932	D	0	-11.5848	12.9682	0.58497	0.4797:0.5203:0.0:0.0	.	184;184	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	184	ENSP00000262518:R184W;ENSP00000378499:R184W;ENSP00000343042:R184W	ENSP00000262518:R184W	R	+	1	2	SRCAP	30626451	0.986000	0.35501	0.990000	0.47175	0.990000	0.78478	2.754000	0.47532	0.746000	0.32786	0.561000	0.74099	CGG		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		15	21	0	0	0	0.003163	0	15	21				
ITGAM	3684	broad.mit.edu	37	16	31340583	31340583	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:31340583G>T	ENST00000287497.8	+	24	2902	c.2827G>T	c.(2827-2829)Gcc>Tcc	p.A943S	ITGAM_ENST00000544665.3_Missense_Mutation_p.A944S			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	943					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAACTTCACGGCCTCAGAGAA	0.547																																							uc002ebq.2		NA																	0				kidney(1)	1						c.(2827-2829)GCC>TCC		integrin alpha M isoform 2 precursor							70.0	69.0	69.0					16																	31340583		1950	4156	6106	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31340583G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2827G>T	16.37:g.31340583G>T	ENSP00000287497:p.Ala943Ser					ITGAM_uc002ebr.2_Missense_Mutation_p.A944S|ITGAM_uc010can.2_Missense_Mutation_p.A349S	p.A943S	NM_000632	NP_000623	P11215	ITAM_HUMAN			24	2925	+			943			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2827G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	1.024	-0.683818	0.03353	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.38722	1.12;1.12	4.96	1.88	0.25563	Integrin alpha-2 (1);	.	.	.	.	T	0.32615	0.0835	L	0.60455	1.87	0.09310	N	1	P;P	0.36438	0.553;0.553	B;B	0.34779	0.189;0.189	T	0.17289	-1.0374	9	0.12103	T	0.63	.	6.8363	0.23937	0.0932:0.3434:0.5635:0.0	.	943;943	Q4VAK1;P11215	.;ITAM_HUMAN	S	944;943	ENSP00000441691:A944S;ENSP00000287497:A943S	ENSP00000287497:A943S	A	+	1	0	ITGAM	31248084	0.012000	0.17670	0.043000	0.18650	0.184000	0.23303	0.694000	0.25512	0.264000	0.21851	-0.181000	0.13052	GCC		0.547	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		7	6	1	0	2.0095e-06	0.001984	2.3649e-06	7	6				
ABCC11	85320	broad.mit.edu	37	16	48209260	48209260	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:48209260C>T	ENST00000394747.1	-	25	3956	c.3607G>A	c.(3607-3609)Ggc>Agc	p.G1203S	ABCC11_ENST00000353782.5_Missense_Mutation_p.G1203S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.G1203S|ABCC11_ENST00000356608.2_Missense_Mutation_p.G1203S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1203	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)	ATGTCCACGCCGTCAATGAGA	0.597																																							uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3607-3609)GGC>AGC		ATP-binding cassette, sub-family C, member 11							72.0	60.0	64.0					16																	48209260		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48209260C>T	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.3607G>A	16.37:g.48209260C>T	ENSP00000378230:p.Gly1203Ser					ABCC11_uc002efg.1_Missense_Mutation_p.G1203S|ABCC11_uc002efh.1_Missense_Mutation_p.G1203S|ABCC11_uc010cbg.1_RNA	p.G1203S	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			25	3957	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1203			ABC transporter 2.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3607G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008638	0.75046	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.18	3.09	0.35607	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.197126	0.44483	D	0.000442	D	0.95284	0.8470	M	0.89287	3.02	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.70935	0.777;0.971	D	0.93595	0.6925	10	0.44086	T	0.13	-17.1034	6.7848	0.23668	0.2187:0.6888:0.0:0.0925	.	1203;1203	Q96J66-2;Q96J66	.;ABCCB_HUMAN	S	1203	ENSP00000311326:G1203S;ENSP00000349017:G1203S;ENSP00000378231:G1203S;ENSP00000378230:G1203S	ENSP00000311326:G1203S	G	-	1	0	ABCC11	46766761	0.012000	0.17670	0.238000	0.24106	0.699000	0.40488	1.827000	0.39102	1.028000	0.39785	0.591000	0.81541	GGC		0.597	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		16	26	0	0	0	0.00499	0	16	26				
ZNF423	23090	broad.mit.edu	37	16	49671762	49671762	+	Missense_Mutation	SNP	G	G	T	rs142517429		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:49671762G>T	ENST00000561648.1	-	4	1354	c.1301C>A	c.(1300-1302)gCg>gAg	p.A434E	ZNF423_ENST00000535559.1_Missense_Mutation_p.A317E|ZNF423_ENST00000562520.1_Missense_Mutation_p.A374E|ZNF423_ENST00000562871.1_Missense_Mutation_p.A374E|ZNF423_ENST00000567169.1_Missense_Mutation_p.A317E|ZNF423_ENST00000563137.2_Missense_Mutation_p.A374E|ZNF423_ENST00000262383.2_Missense_Mutation_p.A434E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	434					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGGCTTGTCCGCGTGGATGGT	0.582																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1300-1302)GCG>GAG		zinc finger protein 423							112.0	99.0	103.0					16																	49671762		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671762G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1301C>A	16.37:g.49671762G>T	ENSP00000455426:p.Ala434Glu					ZNF423_uc010vgn.1_Missense_Mutation_p.A317E	p.A434E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1599	-		all_cancers(37;0.0155)	434					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1301C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	2.845	-0.239524	0.05944	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27104	1.69;1.69	5.05	2.71	0.32032	.	0.105188	0.64402	D	0.000004	T	0.17704	0.0425	N	0.24115	0.695	0.39347	D	0.965685	P	0.43973	0.823	B	0.43658	0.426	T	0.04621	-1.0938	9	.	.	.	.	9.2289	0.37425	0.31:0.0:0.69:0.0	.	434	Q2M1K9	ZN423_HUMAN	E	434;317	ENSP00000262383:A434E;ENSP00000442321:A317E	.	A	-	2	0	ZNF423	48229263	1.000000	0.71417	0.750000	0.31169	0.825000	0.46686	3.461000	0.53035	1.124000	0.41980	0.561000	0.74099	GCG		0.582	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		22	34	1	0	4.72057e-08	0.003954	5.8453e-08	22	34				
FTO	79068	broad.mit.edu	37	16	53859963	53859963	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:53859963G>T	ENST00000471389.1	+	3	533	c.311G>T	c.(310-312)tGc>tTc	p.C104F	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	104	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AATCCAGGCTGCACCTACAAG	0.512																																							uc002ehr.2		NA																	0					0						c.(310-312)TGC>TTC		fat mass and obesity associated							90.0	79.0	83.0					16																	53859963		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53859963G>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.311G>T	16.37:g.53859963G>T	ENSP00000418823:p.Cys104Phe					FTO_uc010vha.1_Intron	p.C104F	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			3	533	+			104			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.311G>T	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	7.274	0.607757	0.14002	.	.	ENSG00000140718	ENST00000471389	T	0.76186	-1.0	5.46	0.551	0.17225	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.368522	0.36066	N	0.002803	T	0.63438	0.2511	L	0.51422	1.61	0.80722	D	1	B	0.31351	0.32	B	0.34301	0.179	T	0.50882	-0.8775	10	0.14656	T	0.56	-1.2715	9.3015	0.37849	0.4683:0.0:0.5317:0.0	.	104	Q9C0B1	FTO_HUMAN	F	104	ENSP00000418823:C104F	ENSP00000418823:C104F	C	+	2	0	FTO	52417464	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	1.188000	0.32102	0.225000	0.20959	-0.355000	0.07637	TGC		0.512	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		20	32	1	0	6.33239e-15	0.010504	9.67523e-15	20	32				
OGFOD1	55239	broad.mit.edu	37	16	56485445	56485445	+	5'UTR	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:56485445G>T	ENST00000566157.1	+	0	44				OGFOD1_ENST00000568397.1_5'Flank|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1						cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ACACGATAAAGGGGACATGCC	0.562																																							uc002ejb.2		NA																	0				skin(1)	1						c.(-81--77)AAGGG>AATGG		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)																																			SO:0001623	5_prime_UTR_variant	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56485445G>T	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.-80G>T	16.37:g.56485445G>T						OGFOD1_uc002ejc.2_Translation_Start_Site|NUDT21_uc002eja.2_5'Flank		NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			1	22	+								H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Translation_Start_Site	SNP	ENST00000566157.1	37	c.-79G>T	CCDS10761.2																																																																																				0.562	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		23	47	1	0	1.10923e-09	0.00278	1.4478e-09	23	47				
GPR114	221188	broad.mit.edu	37	16	57608834	57608834	+	Missense_Mutation	SNP	G	G	A	rs373284862		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:57608834G>A	ENST00000340339.4	+	11	1839	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.R439H	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	439					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGGACCCTGCGCAGGCTGCGG	0.682																																							uc002elx.3		NA																	0				central_nervous_system(1)	1						c.(1315-1317)CGC>CAC		G protein-coupled receptor 114 precursor		G	HIS/ARG	0,4396		0,0,2198	61.0	50.0	53.0		1316	-1.4	0.1	16		53	2,8596	2.2+/-6.3	0,2,4297	no	missense	GPR114	NM_153837.1	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	439/529	57608834	2,12992	2198	4299	6497	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57608834G>A	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1316G>A	16.37:g.57608834G>A	ENSP00000342981:p.Arg439His					GPR114_uc010vhr.1_Missense_Mutation_p.A400T|GPR114_uc002ely.2_Missense_Mutation_p.R439H	p.R439H	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			11	1401	+			439			Cytoplasmic (Potential).		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.1316G>A	CCDS10785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.00|12.00	1.806134|1.806134	0.31961|0.31961	0.0|0.0	2.33E-4|2.33E-4	ENSG00000159618|ENSG00000159618	ENST00000394361|ENST00000340339;ENST00000349457	.|T;T	.|0.44083	.|0.93;0.93	5.56|5.56	-1.36|-1.36	0.09085|0.09085	.|GPCR, family 2-like (1);	.|0.636227	.|0.14499	.|N	.|0.315851	T|T	0.23688|0.23688	0.0573|0.0573	N|N	0.25992|0.25992	0.78|0.78	0.20196|0.20196	N|N	0.999927|0.999927	B|B	0.25312|0.26081	0.123|0.141	B|B	0.12837|0.20184	0.008|0.028	T|T	0.23762|0.23762	-1.0179|-1.0179	8|10	0.39692|0.15499	T|T	0.17|0.54	.|.	9.7072|9.7072	0.40222|0.40222	0.4362:0.0:0.5638:0.0|0.4362:0.0:0.5638:0.0	.|.	400|439	B4E148|Q8IZF4	.|GP114_HUMAN	T|H	400|439	.|ENSP00000342981:R439H;ENSP00000290823:R439H	ENSP00000377888:A400T|ENSP00000342981:R439H	A|R	+|+	1|2	0|0	GPR114|GPR114	56166335|56166335	0.003000|0.003000	0.15002|0.15002	0.100000|0.100000	0.21137|0.21137	0.921000|0.921000	0.55340|0.55340	1.209000|1.209000	0.32357|0.32357	-0.183000|-0.183000	0.10585|0.10585	0.491000|0.491000	0.48974|0.48974	GCA|CGC		0.682	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		20	19	0	0	0	0.007413	0	20	19				
DRC7	84229	broad.mit.edu	37	16	57741492	57741492	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:57741492A>T	ENST00000360716.3	+	8	1200	c.979A>T	c.(979-981)Agc>Tgc	p.S327C	CCDC135_ENST00000394337.4_Missense_Mutation_p.S327C|CCDC135_ENST00000336825.8_Missense_Mutation_p.S262C			Q8IY82	CC135_HUMAN		327					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CACAGGACATAGCTACAGCAC	0.567																																							uc002emi.2		NA																	0				central_nervous_system(1)	1						c.(979-981)AGC>TGC		coiled-coil domain containing 135							90.0	75.0	80.0					16																	57741492		2196	4300	6496	SO:0001583	missense	84229					cytoplasm		g.chr16:57741492A>T																												ENST00000360716.3:c.979A>T	16.37:g.57741492A>T	ENSP00000353942:p.Ser327Cys					CCDC135_uc002emj.2_Missense_Mutation_p.S327C|CCDC135_uc002emk.2_Missense_Mutation_p.S262C	p.S327C	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			7	1068	+			327					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.979A>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	13.20	2.167315	0.38315	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.22945	1.93;1.93;1.93	5.03	5.03	0.67393	.	0.042116	0.85682	D	0.000000	T	0.49508	0.1561	M	0.79475	2.455	0.43890	D	0.996515	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.52646	-0.8548	10	0.62326	D	0.03	-36.8867	10.0825	0.42399	0.9181:0.0:0.0819:0.0	.	262;327	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	327;262;327	ENSP00000377869:S327C;ENSP00000338938:S262C;ENSP00000353942:S327C	ENSP00000338938:S262C	S	+	1	0	CCDC135	56298993	0.853000	0.29707	0.992000	0.48379	0.057000	0.15508	1.894000	0.39768	1.890000	0.54733	0.519000	0.50382	AGC		0.567	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			24	22	0	0	0	0.002299	0	24	22				
CNOT1	23019	broad.mit.edu	37	16	58617059	58617059	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:58617059C>A	ENST00000317147.5	-	9	1166	c.834G>T	c.(832-834)gtG>gtT	p.V278V	CNOT1_ENST00000569240.1_Silent_p.V278V|CNOT1_ENST00000441024.2_Silent_p.V278V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	278					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CACCAAACTGCACGATTATAT	0.423																																							uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(832-834)GTG>GTT		CCR4-NOT transcription complex, subunit 1							96.0	87.0	90.0					16																	58617059		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58617059C>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.834G>T	16.37:g.58617059C>A						CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.V278V|CNOT1_uc002enx.2_Silent_p.V278V|CNOT1_uc002enz.1_Intron	p.V278V	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	9	1127	-			278					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.834G>T	CCDS10799.1																																																																																				0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		16	8	1	0	1.15088e-07	0.004007	1.40192e-07	16	8				
CDH5	1003	broad.mit.edu	37	16	66422325	66422325	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:66422325T>A	ENST00000341529.3	+	4	746	c.598T>A	c.(598-600)Ttt>Att	p.F200I	CDH5_ENST00000563425.2_Missense_Mutation_p.F200I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	200	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GAAAGAGTATTTTGCCATCGA	0.522																																							uc002eom.3		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(598-600)TTT>ATT		cadherin 5, type 2 preproprotein							243.0	197.0	213.0					16																	66422325		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66422325T>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.598T>A	16.37:g.66422325T>A	ENSP00000344115:p.Phe200Ile					CDH5_uc002eon.1_Missense_Mutation_p.F200I	p.F200I	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	4	754	+		Ovarian(137;0.0955)	200			Cadherin 2.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.598T>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742737	0.89573	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.71934	-0.61	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88164	0.6363	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91338	0.5095	9	0.87932	D	0	.	14.367	0.66812	0.0:0.0:0.0:1.0	.	200	P33151	CADH5_HUMAN	I	200	ENSP00000344115:F200I	ENSP00000344115:F200I	F	+	1	0	CDH5	64979826	1.000000	0.71417	0.061000	0.19648	0.949000	0.60115	7.552000	0.82192	2.074000	0.62210	0.460000	0.39030	TTT		0.522	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		31	41	0	0	0	0.002836	0	31	41				
KCTD19	146212	broad.mit.edu	37	16	67325561	67325561	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:67325561G>T	ENST00000304372.5	-	13	2453	c.2398C>A	c.(2398-2400)Ccc>Acc	p.P800T		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	800					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGGGGCTGGGGACTGGCTGTG	0.627																																							uc002esu.2		NA																	0				skin(1)	1						c.(2398-2400)CCC>ACC		potassium channel tetramerisation domain							55.0	66.0	62.0					16																	67325561		2060	4183	6243	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325561G>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2398C>A	16.37:g.67325561G>T	ENSP00000305702:p.Pro800Thr					KCTD19_uc002est.2_Missense_Mutation_p.P572T|KCTD19_uc010vjj.1_Missense_Mutation_p.P543T	p.P800T	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	13	2449	-		Ovarian(137;0.192)	800					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2398C>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	3.976	-0.007447	0.07773	.	.	ENSG00000168676	ENST00000304372	T	0.58652	0.32	5.12	1.88	0.25563	.	0.522173	0.17621	N	0.167721	T	0.33585	0.0868	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23297	-1.0192	10	0.44086	T	0.13	-3.8462	8.932	0.35677	0.0:0.1419:0.5655:0.2926	.	800	Q17RG1	KCD19_HUMAN	T	800	ENSP00000305702:P800T	ENSP00000305702:P800T	P	-	1	0	KCTD19	65883062	0.852000	0.29690	0.992000	0.48379	0.307000	0.27823	0.036000	0.13819	0.728000	0.32382	0.462000	0.41574	CCC		0.627	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		18	29	1	0	1.00905e-13	0.008871	1.49675e-13	18	29				
ACD	65057	broad.mit.edu	37	16	67694282	67694282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:67694282G>A	ENST00000393919.4	-	1	364	c.100C>T	c.(100-102)Cga>Tga	p.R34*	PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Nonsense_Mutation_p.R34*			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	34					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGTCCTGCTCGGGGGCCTGTG	0.706																																							uc002etq.3		NA																	0				pancreas(1)	1						c.(100-102)CGA>TGA		adrenocortical dysplasia homolog isoform 1							11.0	14.0	13.0					16																	67694282		2175	4283	6458	SO:0001587	stop_gained	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67694282G>A	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.100C>T	16.37:g.67694282G>A	ENSP00000377496:p.Arg34*					ACD_uc002etp.3_Nonsense_Mutation_p.R34*|ACD_uc002etr.3_Nonsense_Mutation_p.R34*|ACD_uc010vjt.1_Nonsense_Mutation_p.R24*|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	p.R34*	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	437	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	34					Q562H5|Q9H8F9	Nonsense_Mutation	SNP	ENST00000393919.4	37	c.100C>T	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828574	0.90955	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	.	.	.	3.42	1.35	0.21983	.	0.988927	0.08184	N	0.984986	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.4671	5.7956	0.18385	0.266:0.0:0.734:0.0	.	.	.	.	X	34	.	ENSP00000219251:R34X	R	-	1	2	ACD	66251783	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-2.131000	0.01311	0.651000	0.30788	0.407000	0.27541	CGA		0.706	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		6	5	0	0	0	0.001168	0	6	5				
PSKH1	5681	broad.mit.edu	37	16	67943054	67943054	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:67943054G>T	ENST00000291041.5	+	2	572	c.402G>T	c.(400-402)cgG>cgT	p.R134R		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CCAAGTACCGGGAGGGGCGGG	0.622																																							uc002euv.2		NA																	0					0						c.(400-402)CGG>CGT		protein serine kinase H1							72.0	72.0	72.0					16																	67943054		2198	4300	6498	SO:0001819	synonymous_variant	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67943054G>T	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.402G>T	16.37:g.67943054G>T						PSKH1_uc010cet.2_Silent_p.R134R	p.R134R	NM_006742	NP_006733	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	2	572	+		Ovarian(137;0.192)	134			Protein kinase.		Q9NY19	Silent	SNP	ENST00000291041.5	37	c.402G>T	CCDS10851.1																																																																																				0.622	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		26	35	1	0	2.79863e-10	0.004656	3.74554e-10	26	35				
CALB2	794	broad.mit.edu	37	16	71418248	71418248	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:71418248G>C	ENST00000302628.4	+	8	617	c.540G>C	c.(538-540)ctG>ctC	p.L180L	CALB2_ENST00000349553.5_Intron	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	180	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CCAGACTCCTGCCTGTCCAGG	0.547																																							uc002faa.3		NA																	0					0						c.(538-540)CTG>CTC		calbindin 2 isoform 1							167.0	143.0	151.0					16																	71418248		2198	4300	6498	SO:0001819	synonymous_variant	794						calcium ion binding	g.chr16:71418248G>C	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.540G>C	16.37:g.71418248G>C						CALB2_uc010vme.1_Intron|CALB2_uc002fac.3_Intron	p.L180L	NM_001740	NP_001731	P22676	CALB2_HUMAN			8	610	+		Ovarian(137;0.125)	180			EF-hand 4.		A8K4Y1|Q53HD2|Q96BK4	Silent	SNP	ENST00000302628.4	37	c.540G>C	CCDS10899.1																																																																																				0.547	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		30	38	0	0	0	0.007291	0	30	38				
PMFBP1	83449	broad.mit.edu	37	16	72170413	72170413	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:72170413C>A	ENST00000237353.10	-	9	1398	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	PMFBP1_ENST00000355636.6_Missense_Mutation_p.Q234H|PMFBP1_ENST00000537465.1_Missense_Mutation_p.Q379H	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	379						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCAGCCGGCACTGCAGGATGG	0.542																																							uc002fcc.3		NA																	0				ovary(2)	2						c.(1135-1137)CAG>CAT		polyamine modulated factor 1 binding protein 1							130.0	118.0	122.0					16																	72170413		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72170413C>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1137G>T	16.37:g.72170413C>A	ENSP00000237353:p.Gln379His					PMFBP1_uc002fcd.2_Missense_Mutation_p.Q379H|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.Q234H	p.Q379H	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			9	1309	-		Ovarian(137;0.179)	379			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1137G>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823969	0.71143	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.13657	2.57;2.58;2.57	5.21	-6.12	0.02124	.	0.000000	0.38663	N	0.001605	T	0.21801	0.0525	L	0.36672	1.1	0.19775	N	0.999956	D;D;D	0.69078	0.997;0.994;0.994	D;P;P	0.66847	0.947;0.906;0.906	T	0.13202	-1.0518	10	0.66056	D	0.02	-5.3435	17.6801	0.88240	0.0:0.8679:0.0:0.1321	.	379;379;379	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	H	379;379;234	ENSP00000443817:Q379H;ENSP00000237353:Q379H;ENSP00000347854:Q234H	ENSP00000237353:Q379H	Q	-	3	2	PMFBP1	70727914	0.000000	0.05858	0.002000	0.10522	0.342000	0.28953	-1.288000	0.02783	-1.378000	0.02120	-0.251000	0.11542	CAG		0.542	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		42	51	1	0	7.53189e-24	0.007835	1.3911e-23	42	51				
PSMD7	5713	broad.mit.edu	37	16	74339560	74339560	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:74339560G>A	ENST00000219313.4	+	7	1044	c.904G>A	c.(904-906)Gag>Aag	p.E302K	PSMD7_ENST00000540379.1_Missense_Mutation_p.E225K|AC009120.6_ENST00000565313.1_RNA|AC009120.6_ENST00000566411.1_RNA	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	302	Glu/Lys-rich.				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 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)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ggataggaaagaggacaagga	0.388																																							uc002fcq.2		NA																	0					0						c.(904-906)GAG>AAG		proteasome 26S non-ATPase subunit 7							46.0	44.0	44.0					16																	74339560		2198	4300	6498	SO:0001583	missense	5713				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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr16:74339560G>A	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.904G>A	16.37:g.74339560G>A	ENSP00000219313:p.Glu302Lys					PSMD7_uc010vmr.1_Missense_Mutation_p.E225K	p.E302K	NM_002811	NP_002802	P51665	PSD7_HUMAN			7	1036	+			302			Glu/Lys-rich.		D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	c.904G>A	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825022	0.50739	.	.	ENSG00000103035	ENST00000219313;ENST00000540379	T;T	0.58060	0.36;0.36	5.68	5.68	0.88126	.	0.091207	0.85682	D	0.000000	T	0.40040	0.1101	N	0.19112	0.55	0.50813	D	0.999891	B	0.14438	0.01	B	0.14023	0.01	T	0.24977	-1.0145	10	0.12766	T	0.61	-27.7965	19.8003	0.96504	0.0:0.0:1.0:0.0	.	302	P51665	PSD7_HUMAN	K	302;225	ENSP00000219313:E302K;ENSP00000443925:E225K	ENSP00000219313:E302K	E	+	1	0	PSMD7	72897061	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.837000	0.99465	2.672000	0.90937	0.650000	0.86243	GAG		0.388	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		8	20	0	0	0	0.00308	0	8	20				
CNTNAP4	85445	broad.mit.edu	37	16	76486650	76486650	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:76486650C>A	ENST00000476707.1	+	7	1465	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.P366P|CNTNAP4_ENST00000377504.4_Silent_p.P390P|CNTNAP4_ENST00000307431.8_Silent_p.P438P			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	439	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)				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						GAAAATTACCCAGTGACATCA	0.403																																							uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1315-1317)CCC>CCA		cell recognition protein CASPR4 isoform 1							35.0	36.0	36.0					16																	76486650		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486650C>A	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.1326C>A	16.37:g.76486650C>A						CNTNAP4_uc002fev.1_Silent_p.P303P|CNTNAP4_uc010chb.1_Silent_p.P366P|CNTNAP4_uc002fex.1_Silent_p.P442P|CNTNAP4_uc002few.2_Silent_p.P414P	p.P439P	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			10	1702	+			439			Extracellular (Potential).|Laminin G-like 2.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.1317C>A																																																																																					0.403	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		10	11	1	0	7.48243e-07	0.006214	8.9163e-07	10	11				
PKD1L2	114780	broad.mit.edu	37	16	81151043	81151043	+	RNA	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:81151043C>A	ENST00000534142.1	-	0	1093				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACAAACACCGCCAGGGCGCTC	0.622																																							uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6706-6708)GCG>TCG		polycystin 1-like 2 isoform a							60.0	63.0	62.0					16																	81151043		1977	4154	6131			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81151043C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81151043C>A						PKD1L2_uc002fgf.1_Missense_Mutation_p.A36S|PKD1L2_uc002fgg.1_RNA	p.A2236S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			41	6706	-			2236			Helical; (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.6706G>T																																																																																					0.622	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			24	37	1	0	3.28513e-13	0.003954	4.82768e-13	24	37				
PKD1L2	114780	broad.mit.edu	37	16	81187854	81187854	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:81187854G>T	ENST00000525539.1	-	0	4214				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGAGGACGTGGCTGCCCCTC	0.537																																							uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4213-4215)GCC>GCA		polycystin 1-like 2 isoform a							111.0	110.0	110.0					16																	81187854		2109	4228	6337			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81187854G>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81187854G>T						PKD1L2_uc002fgg.1_RNA	p.A1405A	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			25	4215	-			1405			Cytoplasmic (Potential).|PLAT.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.4215C>A																																																																																					0.537	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			10	14	1	0	1.5842e-08	0.001855	1.99285e-08	10	14				
PKD1L2	114780	broad.mit.edu	37	16	81241150	81241150	+	RNA	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:81241150A>T	ENST00000525539.1	-	0	850				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TATACAGGACAGGTTTCCTAT	0.488																																							uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(850-852)CTG>CAG		polycystin 1-like 2 isoform a							130.0	132.0	132.0					16																	81241150		1955	4143	6098			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81241150A>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81241150A>T						PKD1L2_uc002fgj.2_Missense_Mutation_p.L284Q	p.L284Q	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			5	851	-			284			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.851T>A		.	.	.	.	.	.	.	.	.	.	A	22.8	4.339992	0.81911	.	.	ENSG00000166473	ENST00000337114	D	0.87650	-2.28	5.25	5.25	0.73442	.	0.197825	0.31809	N	0.007030	D	0.93167	0.7824	.	.	.	0.32497	N	0.539442	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.95112	0.8239	9	0.87932	D	0	-11.1548	15.1489	0.72681	1.0:0.0:0.0:0.0	.	284;284	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	Q	284	ENSP00000337397:L284Q	ENSP00000337397:L284Q	L	-	2	0	PKD1L2	79798651	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.369000	0.79578	1.984000	0.57885	0.460000	0.39030	CTG		0.488	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			27	58	0	0	0	0.009535	0	27	58				
SDR42E1	93517	broad.mit.edu	37	16	82034396	82034396	+	Splice_Site	SNP	C	C	A	rs371497769	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:82034396C>A	ENST00000328945.5	-	2	195	c.68G>T	c.(67-69)cGc>cTc	p.R23L	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	23					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ATACACTTACCGAAAACCAAA	0.383																																							uc002fgu.2		NA																	0					0						c.(67-69)CGC>CTC		short chain dehydrogenase/reductase family 42E,							88.0	87.0	87.0					16																	82034396		1851	4090	5941	SO:0001630	splice_region_variant	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82034396C>A	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.68+1G>T	16.37:g.82034396C>A							p.R23L	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			2	196	-			23					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.68G>T	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528763	0.64860	.	.	ENSG00000184860	ENST00000328945	D	0.88046	-2.33	5.59	5.59	0.84812	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.049609	0.85682	D	0.000000	D	0.87981	0.6315	M	0.79123	2.44	0.58432	D	0.999999	B	0.19706	0.038	B	0.23150	0.044	D	0.83937	0.0309	9	.	.	.	-10.6134	18.5909	0.91212	0.0:1.0:0.0:0.0	.	23	Q8WUS8	D42E1_HUMAN	L	23	ENSP00000332407:R23L	.	R	-	2	0	SDR42E1	80591897	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	5.236000	0.65354	2.611000	0.88343	0.650000	0.86243	CGC		0.383	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168	Missense_Mutation	9	13	1	0	3.09899e-07	0.004482	3.73663e-07	9	13				
NECAB2	54550	broad.mit.edu	37	16	84031857	84031857	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:84031857G>C	ENST00000305202.4	+	10	914	c.897G>C	c.(895-897)ctG>ctC	p.L299L	NECAB2_ENST00000565691.1_Silent_p.L216L|NECAB2_ENST00000567703.1_3'UTR	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	299	ABM.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCGAGCAACTGAGCGAGTTTC	0.652																																							uc002fhd.2		NA																	0				ovary(2)	2						c.(895-897)CTG>CTC		neuronal calcium-binding protein 2							43.0	38.0	40.0					16																	84031857		2200	4300	6500	SO:0001819	synonymous_variant	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84031857G>C	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.897G>C	16.37:g.84031857G>C						NECAB2_uc002fhe.2_Silent_p.L216L	p.L299L	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			10	914	+			299			ABM.		A2RRG3|O75547|Q6ZSK0	Silent	SNP	ENST00000305202.4	37	c.897G>C	CCDS10940.1																																																																																				0.652	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		20	22	0	0	0	0.010504	0	20	22				
SLC38A8	146167	broad.mit.edu	37	16	84050271	84050271	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:84050271C>A	ENST00000299709.3	-	8	1014	c.1015G>T	c.(1015-1017)Gcc>Tcc	p.A339S		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	339					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGTCGGCCAGGGCGCTG	0.647																																							uc002fhg.1		NA																	0					0						c.(1015-1017)GCC>TCC		solute carrier family 38, member 8							45.0	49.0	47.0					16																	84050271		2200	4299	6499	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050271C>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1015G>T	16.37:g.84050271C>A	ENSP00000299709:p.Ala339Ser						p.A339S	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			8	1015	-			339						Missense_Mutation	SNP	ENST00000299709.3	37	c.1015G>T	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	0.814	-0.750997	0.03041	.	.	ENSG00000166558	ENST00000299709	T	0.02177	4.41	3.84	2.89	0.33648	.	1.054530	0.07386	N	0.888336	T	0.02047	0.0064	L	0.29908	0.895	0.25992	N	0.982232	B	0.20887	0.049	B	0.17433	0.018	T	0.47497	-0.9113	10	0.07644	T	0.81	.	7.9148	0.29812	0.0:0.7938:0.0:0.2062	.	339	A6NNN8	S38A8_HUMAN	S	339	ENSP00000299709:A339S	ENSP00000299709:A339S	A	-	1	0	SLC38A8	82607772	0.000000	0.05858	0.794000	0.32065	0.360000	0.29518	0.036000	0.13819	0.828000	0.34709	-0.455000	0.05494	GCC		0.647	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		26	15	1	0	1.66031e-10	0.003954	2.23678e-10	26	15				
JPH3	57338	broad.mit.edu	37	16	87636837	87636837	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:87636837G>A	ENST00000284262.2	+	1	327	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	RP11-482M8.3_ENST00000602388.1_RNA	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	29	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGGCCATGGCGTCTGCACCGG	0.637																																							uc002fkd.2		NA																	0				ovary(1)|pancreas(1)	2						c.(85-87)GTC>ATC		junctophilin 3							55.0	57.0	56.0					16																	87636837		2198	4300	6498	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87636837G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.85G>A	16.37:g.87636837G>A	ENSP00000284262:p.Val29Ile					JPH3_uc010vou.1_Intron	p.V29I	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	1	339	+			29			Gly-rich.|MORN 1.|Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.85G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	g	0.609	-0.825761	0.02734	.	.	ENSG00000154118	ENST00000301008;ENST00000284262	T	0.60040	0.22	4.04	2.91	0.33838	.	0.193819	0.42821	U	0.000645	T	0.28134	0.0694	N	0.12637	0.245	0.31761	N	0.633405	B	0.06786	0.001	B	0.15484	0.013	T	0.29912	-0.9996	10	0.02654	T	1	.	4.0035	0.09590	0.6318:0.0:0.3682:0.0	.	29	Q8WXH2	JPH3_HUMAN	I	29	ENSP00000284262:V29I	ENSP00000284262:V29I	V	+	1	0	JPH3	86194338	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	2.329000	0.43876	0.630000	0.30394	0.450000	0.29827	GTC		0.637	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			18	31	0	0	0	0.001882	0	18	31				
RPH3AL	9501	broad.mit.edu	37	17	96918	96918	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:96918C>A	ENST00000331302.7	-	7	904	c.597G>T	c.(595-597)acG>acT	p.T199T	RPH3AL_ENST00000323434.8_Silent_p.T170T|RPH3AL_ENST00000536489.2_Silent_p.T170T|RPH3AL_ENST00000576001.1_5'UTR	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	199					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCGGGCCCACGTGTAGATGC	0.617																																							uc002frd.1		NA																	0				skin(1)	1						c.(595-597)ACG>ACT		rabphilin 3A-like (without C2 domains)							97.0	90.0	93.0					17																	96918		2203	4300	6503	SO:0001819	synonymous_variant	9501				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	g.chr17:96918C>A		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.597G>T	17.37:g.96918C>A						RPH3AL_uc010vpy.1_Silent_p.T199T|RPH3AL_uc002fre.1_Silent_p.T199T|RPH3AL_uc002frf.1_Silent_p.T170T|RPH3AL_uc010cjl.1_Silent_p.T170T	p.T199T	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)	5	641	-			199					D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	c.597G>T	CCDS10994.1																																																																																				0.617	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		72	8	1	0	7.33394e-39	0.00361	1.51575e-38	72	8				
TRPV3	162514	broad.mit.edu	37	17	3458053	3458053	+	Missense_Mutation	SNP	G	G	T	rs146728389		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:3458053G>T	ENST00000576742.1	-	2	413	c.92C>A	c.(91-93)cCg>cAg	p.P31Q	TRPV3_ENST00000301365.4_Missense_Mutation_p.P31Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.P31Q	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	31					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.P31L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATCTCCGCCGGCCTCTTCTC	0.642																																							uc002fvt.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)	4						c.(91-93)CCG>CAG		transient receptor potential cation channel,	Menthol(DB00825)						39.0	41.0	41.0					17																	3458053		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3458053G>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.92C>A	17.37:g.3458053G>T	ENSP00000461518:p.Pro31Gln					TRPV3_uc010vrj.1_5'UTR|TRPV3_uc010vrk.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.P31Q|TRPV3_uc002fvu.2_Missense_Mutation_p.P31Q	p.P31Q	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			2	414	-			31			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.92C>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298108	0.23650	.	.	ENSG00000167723	ENST00000381913;ENST00000301365	T	0.41758	0.99	4.79	2.78	0.32641	.	0.104424	0.42821	D	0.000653	T	0.25717	0.0626	N	0.19112	0.55	0.23559	N	0.997419	P;B;B	0.42161	0.772;0.175;0.268	B;B;B	0.39617	0.243;0.161;0.305	T	0.07770	-1.0755	10	0.46703	T	0.11	-1.713	8.2076	0.31465	0.1907:0.0:0.8093:0.0	.	31;31;31	Q8NET8-3;Q8NET8;Q8NET8-2	.;TRPV3_HUMAN;.	Q	31	ENSP00000301365:P31Q	ENSP00000301365:P31Q	P	-	2	0	TRPV3	3404803	0.949000	0.32298	0.217000	0.23759	0.012000	0.07955	2.711000	0.47177	0.565000	0.29255	-0.448000	0.05591	CCG		0.642	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		33	2	1	0	1.04594e-18	0.00623	1.77735e-18	33	2				
SHPK	23729	broad.mit.edu	37	17	3514000	3514000	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:3514000C>A	ENST00000225519.3	-	7	1393	c.1291G>T	c.(1291-1293)Ggg>Tgg	p.G431W	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	431					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AGCGCACTCCCACTGCCCATC	0.617																																							uc002fvz.1		NA																	0				ovary(1)	1						c.(1291-1293)GGG>TGG		carbohydrate kinase-like							151.0	151.0	151.0					17																	3514000		2203	4300	6503	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3514000C>A	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1291G>T	17.37:g.3514000C>A	ENSP00000225519:p.Gly431Trp					TRPV1_uc010vru.1_5'Flank	p.G431W	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1394	-			431					B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.1291G>T	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975966	0.74360	.	.	ENSG00000197417	ENST00000225519	D	0.89343	-2.5	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.94693	0.8288	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95511	0.8586	10	0.87932	D	0	-20.5999	16.9394	0.86213	0.0:1.0:0.0:0.0	.	431	Q9UHJ6	SHPK_HUMAN	W	431	ENSP00000225519:G431W	ENSP00000225519:G431W	G	-	1	0	SHPK	3460749	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	6.827000	0.75303	2.314000	0.78098	0.563000	0.77884	GGG		0.617	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			81	13	1	0	9.04243e-43	0.00361	1.89081e-42	81	13				
CAMKK1	84254	broad.mit.edu	37	17	3779708	3779708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:3779708G>A	ENST00000348335.2	-	10	953	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	CAMKK1_ENST00000381769.2_Nonsense_Mutation_p.Q296*|CAMKK1_ENST00000381771.2_Nonsense_Mutation_p.Q307*|CAMKK1_ENST00000158166.5_Nonsense_Mutation_p.Q307*	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACGATCTTCTGGCAGTGCACT	0.642																																							uc002fwt.2		NA																	0				ovary(1)	1						c.(805-807)CAG>TAG		calcium/calmodulin-dependent protein kinase 1							130.0	93.0	105.0					17																	3779708		2203	4300	6503	SO:0001587	stop_gained	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3779708G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.805C>T	17.37:g.3779708G>A	ENSP00000323118:p.Gln269*					CAMKK1_uc002fwu.2_Nonsense_Mutation_p.Q269*|CAMKK1_uc002fwv.2_Nonsense_Mutation_p.Q307*	p.Q269*	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	899	-			269			Protein kinase.		Q9BQH3	Nonsense_Mutation	SNP	ENST00000348335.2	37	c.805C>T	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	G	37	6.429145	0.97559	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	.	.	.	5.72	5.72	0.89469	.	0.062102	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-31.1654	18.8711	0.92315	0.0:0.0:1.0:0.0	.	.	.	.	X	296;269;307;307	.	ENSP00000158166:Q307X	Q	-	1	0	CAMKK1	3726457	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	9.267000	0.95665	2.717000	0.92951	0.650000	0.86243	CAG		0.642	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		35	11	0	0	0	0.004289	0	35	11				
ZZEF1	23140	broad.mit.edu	37	17	3955431	3955431	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:3955431C>A	ENST00000381638.2	-	35	5559		c.e35-1			NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1								calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCACCCCACCTGAGGAGAAA	0.557																																							uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.e35-1		zinc finger, ZZ type with EF hand domain 1							45.0	38.0	41.0					17																	3955431		2203	4300	6503	SO:0001630	splice_region_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3955431C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5435-1G>T	17.37:g.3955431C>A						ZZEF1_uc002fxh.2_Splice_Site_p.G126_splice|ZZEF1_uc002fxi.2_Splice_Site_p.G47_splice|ZZEF1_uc002fxj.1_Splice_Site_p.G425_splice	p.G1812_splice	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			35	5499	-								A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Splice_Site	SNP	ENST00000381638.2	37	c.5435_splice	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641985	0.47153	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.172	0.89749	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZZEF1	3902180	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	7.478000	0.81082	2.723000	0.93209	0.655000	0.94253	.		0.557	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	Intron	11	0	1	0	4.68919e-08	0.008291	5.81656e-08	11	0				
NLRP1	22861	broad.mit.edu	37	17	5485233	5485233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:5485233C>A	ENST00000572272.1	-	3	597	c.598G>T	c.(598-600)Gag>Tag	p.E200*	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.E200*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.E200*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.E200*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.E200*|NLRP1_ENST00000345221.3_Nonsense_Mutation_p.E200*			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	200					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAGGAGCCTCCTGCTCTCTG	0.622																																							uc002gci.2		NA																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(598-600)GAG>TAG		NLR family, pyrin domain containing 1 isoform 1							84.0	91.0	89.0					17																	5485233		2203	4300	6503	SO:0001587	stop_gained	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5485233C>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.598G>T	17.37:g.5485233C>A	ENSP00000460475:p.Glu200*					NLRP1_uc002gcg.1_Nonsense_Mutation_p.E200*|NLRP1_uc002gck.2_Nonsense_Mutation_p.E200*|NLRP1_uc002gcj.2_Nonsense_Mutation_p.E200*|NLRP1_uc002gcl.2_Nonsense_Mutation_p.E200*|NLRP1_uc002gch.3_Nonsense_Mutation_p.E200*|NLRP1_uc010clh.2_Nonsense_Mutation_p.E200*	p.E200*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			3	1153	-		Colorectal(1115;3.48e-05)	200					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Nonsense_Mutation	SNP	ENST00000572272.1	37	c.598G>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766898	0.98477	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	.	.	.	2.95	-0.214	0.13161	.	1.324280	0.05766	N	0.605768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	5.1996	0.15256	0.0:0.576:0.0:0.424	.	.	.	.	X	200	.	ENSP00000262467:E200X	E	-	1	0	NLRP1	5425957	0.000000	0.05858	0.006000	0.13384	0.314000	0.28054	-0.098000	0.11024	-0.010000	0.14271	0.561000	0.74099	GAG		0.622	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		61	16	1	0	9.61844e-40	0.00361	1.9966e-39	61	16				
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L	p.R158L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	6	1	0	1.0096e-33	0.00361	2.03636e-33	46	6				
MYH13	8735	broad.mit.edu	37	17	10213109	10213109	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10213109C>A	ENST00000418404.3	-	33	4858	c.4695G>T	c.(4693-4695)gtG>gtT	p.V1565V	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.V1565V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1565					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTCTAGCTGCACGCGCAAGA	0.512																																							uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(4693-4695)GTG>GTT		myosin, heavy polypeptide 13, skeletal muscle							33.0	33.0	33.0					17																	10213109		2032	4196	6228	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10213109C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4695G>T	17.37:g.10213109C>A							p.V1565V	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			34	4785	-			1565			Potential.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.4695G>T	CCDS45613.1																																																																																				0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		5	0	1	0	0.000602214	0.000602	0.000642362	5	0				
MYH4	4622	broad.mit.edu	37	17	10367997	10367997	+	Splice_Site	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10367997C>G	ENST00000255381.2	-	6	644		c.e6+1		RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AATCTACATACGTAATCAAGA	0.333																																							uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.e6+1		myosin, heavy polypeptide 4, skeletal muscle							91.0	82.0	85.0					17																	10367997		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10367997C>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.533+1G>C	17.37:g.10367997C>G						uc002gml.1_Intron	p.T178_splice	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			6	644	-									Splice_Site	SNP	ENST00000255381.2	37	c.533_splice	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700685	0.68501	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.22	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5789	0.45244	0.0:0.8507:0.0:0.1493	.	.	.	.	.	-1	.	.	.	-	.	.	MYH4	10308722	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.952000	0.56691	1.332000	0.45431	-0.126000	0.14955	.		0.333	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Intron	14	8	0	0	0	0.003163	0	14	8				
MYH4	4622	broad.mit.edu	37	17	10368006	10368006	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10368006G>T	ENST00000255381.2	-	6	635	c.525C>A	c.(523-525)atC>atA	p.I175I	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	175	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACGTAATCAAGATTGACTGGT	0.323																																							uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(523-525)ATC>ATA		myosin, heavy polypeptide 4, skeletal muscle							86.0	77.0	80.0					17																	10368006		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10368006G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.525C>A	17.37:g.10368006G>T						uc002gml.1_Intron	p.I175I	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			6	636	-			175			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.525C>A	CCDS11154.1																																																																																				0.323	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		15	8	1	0	2.23348e-06	0.004007	2.62416e-06	15	8				
MYH2	4620	broad.mit.edu	37	17	10424660	10424660	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10424660G>T	ENST00000245503.5	-	40	6147	c.5763C>A	c.(5761-5763)tcC>tcA	p.S1921S	MYH2_ENST00000397183.2_Silent_p.S1921S|RP11-799N11.1_ENST00000399342.2_RNA|MYH1_ENST00000226207.5_5'Flank|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Silent_p.S688S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1921					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTTCACCTGGGACTCAGCAA	0.502																																							uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5761-5763)TCC>TCA		myosin heavy chain IIa							182.0	175.0	177.0					17																	10424660		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10424660G>T		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.5763C>A	17.37:g.10424660G>T						uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Silent_p.S1921S|MYH2_uc010coj.2_Silent_p.S688S	p.S1921S	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			40	5891	-			1921			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.5763C>A	CCDS11156.1																																																																																				0.502	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		86	18	1	0	2.35699e-46	0.00361	4.96501e-46	86	18				
MYH3	4621	broad.mit.edu	37	17	10532963	10532963	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10532963G>A	ENST00000583535.1	-	40	5834	c.5747C>T	c.(5746-5748)tCt>tTt	p.S1916F	MYH3_ENST00000226209.7_Missense_Mutation_p.S1916F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1916					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTTGACTTGAGATTCTGCGAT	0.547																																							uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(5746-5748)TCT>TTT		myosin, heavy chain 3, skeletal muscle,							85.0	76.0	79.0					17																	10532963		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10532963G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5747C>T	17.37:g.10532963G>A	ENSP00000464317:p.Ser1916Phe						p.S1916F	NM_002470	NP_002461	P11055	MYH3_HUMAN			39	5824	-			1916			Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.5747C>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396983	0.62177	.	.	ENSG00000109063	ENST00000226209	T	0.79749	-1.3	5.0	5.0	0.66597	Myosin tail (1);	.	.	.	.	D	0.92361	0.7576	H	0.96080	3.765	0.41863	D	0.990238	D	0.53745	0.962	D	0.66979	0.948	D	0.94192	0.7442	9	0.87932	D	0	.	14.4638	0.67470	0.0:0.1468:0.8532:0.0	.	1916	P11055	MYH3_HUMAN	F	1916	ENSP00000226209:S1916F	ENSP00000226209:S1916F	S	-	2	0	MYH3	10473688	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	4.325000	0.59234	2.769000	0.95229	0.655000	0.94253	TCT		0.547	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		32	5	0	0	0	0.008361	0	32	5				
MYH3	4621	broad.mit.edu	37	17	10552923	10552923	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:10552923G>T	ENST00000583535.1	-	7	700	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	MYH3_ENST00000226209.7_Missense_Mutation_p.L205M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	205	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTGGCCAGGTCCCCAGTA	0.488																																							uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(613-615)CTG>ATG		myosin, heavy chain 3, skeletal muscle,							186.0	153.0	164.0					17																	10552923		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10552923G>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.613C>A	17.37:g.10552923G>T	ENSP00000464317:p.Leu205Met						p.L205M	NM_002470	NP_002461	P11055	MYH3_HUMAN			6	690	-			205			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.613C>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049895	0.55218	.	.	ENSG00000109063	ENST00000226209	D	0.87256	-2.23	4.46	4.46	0.54185	Myosin head, motor domain (2);	.	.	.	.	D	0.83257	0.5215	N	0.17082	0.46	0.25205	N	0.990026	B	0.30542	0.284	B	0.43916	0.436	T	0.76471	-0.2947	9	0.66056	D	0.02	.	9.8725	0.41182	0.0:0.1389:0.699:0.1622	.	205	P11055	MYH3_HUMAN	M	205	ENSP00000226209:L205M	ENSP00000226209:L205M	L	-	1	2	MYH3	10493648	0.008000	0.16893	1.000000	0.80357	0.995000	0.86356	0.728000	0.26013	2.481000	0.83766	0.557000	0.71058	CTG		0.488	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		67	11	1	0	9.07738e-34	0.00361	1.83611e-33	67	11				
DNAH9	1770	broad.mit.edu	37	17	11737983	11737983	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:11737983C>A	ENST00000262442.4	+	49	9343	c.9275C>A	c.(9274-9276)gCc>gAc	p.A3092D	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3092D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3092	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGCTGGCTGCCCAGGAAGTA	0.512																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9274-9276)GCC>GAC		dynein, axonemal, heavy chain 9 isoform 2							66.0	57.0	60.0					17																	11737983		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11737983C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9275C>A	17.37:g.11737983C>A	ENSP00000262442:p.Ala3092Asp					DNAH9_uc010coo.2_Missense_Mutation_p.A2386D	p.A3092D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	49	9343	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3092			Stalk (By similarity).|Potential.		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9275C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	5.335	0.247124	0.10130	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75821	-0.97;-0.97	5.17	4.14	0.48551	Dynein heavy chain, coiled coil stalk (1);	0.416890	0.25726	N	0.028704	T	0.67192	0.2867	L	0.46885	1.475	0.46044	D	0.998838	B	0.10296	0.003	B	0.21151	0.033	T	0.61461	-0.7058	10	0.23891	T	0.37	.	14.2868	0.66251	0.0:0.9182:0.0:0.0818	.	3092	Q9NYC9	DYH9_HUMAN	D	3092;3092;1674	ENSP00000262442:A3092D;ENSP00000414874:A3092D	ENSP00000262442:A3092D	A	+	2	0	DNAH9	11678708	0.002000	0.14202	0.809000	0.32408	0.173000	0.22820	1.695000	0.37763	2.683000	0.91414	0.655000	0.94253	GCC		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		14	5	1	0	0.000219431	0.00245	0.000240547	14	5				
TRPV2	51393	broad.mit.edu	37	17	16325967	16325967	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:16325967G>A	ENST00000338560.7	+	4	788	c.389G>A	c.(388-390)gGa>gAa	p.G130E	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	130	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTAAGGACGGAGTCAATGCC	0.572																																							uc002gpy.2		NA																	0				ovary(1)	1						c.(388-390)GGA>GAA		transient receptor potential cation channel,							82.0	66.0	72.0					17																	16325967		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16325967G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.389G>A	17.37:g.16325967G>A	ENSP00000342222:p.Gly130Glu					TRPV2_uc002gpz.2_5'UTR	p.G130E	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	4	756	+			130			Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 2.		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.389G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542997	0.65198	.	.	ENSG00000187688	ENST00000338560	D	0.88046	-2.33	5.24	5.24	0.73138	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.92037	0.5638	10	0.40728	T	0.16	-7.0661	18.3537	0.90348	0.0:0.0:1.0:0.0	.	130	Q9Y5S1	TRPV2_HUMAN	E	130	ENSP00000342222:G130E	ENSP00000342222:G130E	G	+	2	0	TRPV2	16266692	1.000000	0.71417	0.657000	0.29651	0.089000	0.18198	8.795000	0.91872	2.884000	0.98904	0.655000	0.94253	GGA		0.572	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		8	4	0	0	0	0.004482	0	8	4				
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:16734855C>T	ENST00000579062.1	-	0	460									keratin 16 pseudogene 2									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632																																							uc010vwr.1		NA																	1	Substitution - Missense(1)		endometrium(1)		NA						c.(277-279)CGG>CAG		SubName: Full=cDNA FLJ53570, highly similar to Keratin, type I cytoskeletal 16;																																						0							g.chr17:16734855C>T			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734855C>T							p.R93Q							3	720	-									Missense_Mutation	SNP	ENST00000579062.1	37	c.278G>A																																																																																					0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		5	19	0	0	0	0.00308	0	5	19				
RAI1	10743	broad.mit.edu	37	17	17700138	17700138	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:17700138C>T	ENST00000353383.1	+	3	4345	c.3876C>T	c.(3874-3876)ctC>ctT	p.L1292L	RAI1_ENST00000261641.6_Silent_p.L1292L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1292					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCACAAAGCTCCCACCCCCGG	0.657																																							uc002grm.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(3874-3876)CTC>CTT		retinoic acid induced 1							53.0	66.0	61.0					17																	17700138		2203	4299	6502	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700138C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3876C>T	17.37:g.17700138C>T						RAI1_uc002grn.1_Silent_p.L1292L	p.L1292L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4345	+			1292					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.3876C>T	CCDS11188.1																																																																																				0.657	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		58	15	0	0	0	0.00361	0	58	15				
MAP2K3	5606	broad.mit.edu	37	17	21201777	21201777	+	Silent	SNP	C	C	A	rs145057136		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:21201777C>A	ENST00000342679.4	+	2	351	c.102C>A	c.(100-102)ccC>ccA	p.P34P	MAP2K3_ENST00000316920.6_Silent_p.P5P|MAP2K3_ENST00000361818.5_Silent_p.P5P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	34					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAAGCCACCCGCACCCAACC	0.562																																							uc002gys.2		NA																	0					0						c.(100-102)CCC>CCA		mitogen-activated protein kinase kinase 3		C	,	0,4406		0,0,2203	224.0	198.0	207.0		15,102	-9.1	0.0	17	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MAP2K3	NM_002756.4,NM_145109.2	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	5/319,34/348	21201777	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21201777C>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.102C>A	17.37:g.21201777C>A						MAP2K3_uc002gyt.2_Silent_p.P5P|MAP2K3_uc002gyu.2_Silent_p.P5P	p.P34P	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	2	367	+			34					B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.102C>A	CCDS11217.1																																																																																				0.562	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		47	116	1	0	1.22102e-19	0.00361	2.11782e-19	47	116				
UBBP4	23666	broad.mit.edu	37	17	21731007	21731007	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:21731007G>T	ENST00000578713.1	+	1	313	c.309G>T	c.(307-309)aaG>aaT	p.K103N	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.K103N					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAATGTGAAGGCCAAGATCC	0.547																																							uc002gyy.3		NA																	0					NA						c.(307-309)AAG>AAT		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001583	missense	0							g.chr17:21731007G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.309G>T	17.37:g.21731007G>T	ENSP00000464265:p.Lys103Asn						p.K103N							2	434	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.309G>T																																																																																					0.547	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			15	36	1	0	8.28177e-16	0.007413	1.30601e-15	15	36				
MYO18A	399687	broad.mit.edu	37	17	27425126	27425126	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:27425126C>A	ENST00000527372.1	-	25	4167	c.3987G>T	c.(3985-3987)ctG>ctT	p.L1329L	MYO18A_ENST00000354329.4_Silent_p.L1329L|MYO18A_ENST00000531253.1_Silent_p.L1329L|MYO18A_ENST00000533112.1_Silent_p.L1329L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1329					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCTCACCTGCAGTTCCTTCA	0.612																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	0					0						c.(3985-3987)CTG>CTT		myosin 18A isoform a							115.0	127.0	123.0					17																	27425126		2158	4256	6414	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27425126C>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3987G>T	17.37:g.27425126C>A						MYO18A_uc010wbc.1_Silent_p.L871L|MYO18A_uc002hds.2_Silent_p.L871L|MYO18A_uc010csa.1_Silent_p.L1329L|MYO18A_uc002hdu.1_Silent_p.L1329L|MYO18A_uc010wbd.1_Silent_p.L998L	p.L1329L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		25	4145	-			1329			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.3987G>T	CCDS45642.1																																																																																				0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		60	154	1	0	8.02648e-44	0.00361	1.68331e-43	60	154				
SSH2	85464	broad.mit.edu	37	17	27958261	27958261	+	Missense_Mutation	SNP	C	C	G	rs577159039	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:27958261C>G	ENST00000269033.3	-	15	4021	c.3870G>C	c.(3868-3870)caG>caC	p.Q1290H	SSH2_ENST00000540801.1_Missense_Mutation_p.Q1317H|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1290					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGGAAAGGCTGAAGCAGTT	0.537																																							uc002heo.1		NA																	0				skin(2)	2						c.(3868-3870)CAG>CAC		slingshot 2							92.0	87.0	89.0					17																	27958261		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958261C>G	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3870G>C	17.37:g.27958261C>G	ENSP00000269033:p.Gln1290His					SSH2_uc010wbh.1_Missense_Mutation_p.Q1317H	p.Q1290H	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	3870	-			1290					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.3870G>C	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065106	0.55432	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.41758	0.99;0.99	6.11	5.14	0.70334	.	0.402560	0.24054	N	0.041972	T	0.55784	0.1942	L	0.60455	1.87	0.80722	D	1	D;D	0.61080	0.989;0.981	P;P	0.58172	0.834;0.592	T	0.58601	-0.7608	10	0.59425	D	0.04	-12.0742	14.3026	0.66362	0.0:0.9297:0.0:0.0703	.	1317;1290	F5H527;Q76I76	.;SSH2_HUMAN	H	1290;1317	ENSP00000269033:Q1290H;ENSP00000444743:Q1317H	ENSP00000269033:Q1290H	Q	-	3	2	SSH2	24982387	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.200000	0.32247	1.600000	0.50102	0.655000	0.94253	CAG		0.537	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		39	39	0	0	0	0.004878	0	39	39				
NF1	4763	broad.mit.edu	37	17	29562765	29562765	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:29562765G>T	ENST00000358273.4	+	28	4228	c.3845G>T	c.(3844-3846)aGt>aTt	p.S1282I	NF1_ENST00000356175.3_Missense_Mutation_p.S1282I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1282	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCTTGGCCAGTAAAATAATG	0.408			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(3844-3846)AGT>ATT		neurofibromin isoform 1							146.0	142.0	144.0					17																	29562765		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562765G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3845G>T	17.37:g.29562765G>T	ENSP00000351015:p.Ser1282Ile	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.S1282I|NF1_uc010csn.1_Missense_Mutation_p.S1142I|NF1_uc002hgi.1_Missense_Mutation_p.S315I	p.S1282I	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	28	4178	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1282			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.3845G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114672	0.94339	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.82619	-1.63;-1.63;-1.63	6.16	6.16	0.99307	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (3);	0.082176	0.85682	D	0.000000	D	0.92619	0.7655	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;0.994;0.993	D;D;D;D	0.81914	0.995;0.96;0.983;0.969	D	0.92427	0.5950	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1282;332;1282;1282	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	I	1282;1282;948	ENSP00000351015:S1282I;ENSP00000348498:S1282I;ENSP00000389907:S948I	ENSP00000348498:S1282I	S	+	2	0	NF1	26586891	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.278000	0.95766	2.937000	0.99478	0.650000	0.86243	AGT		0.408	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		80	52	1	0	9.42754e-34	0.00361	1.90423e-33	80	52				
NF1	4763	broad.mit.edu	37	17	29653020	29653020	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:29653020A>G	ENST00000358273.4	+	37	5401	c.5018A>G	c.(5017-5019)aAc>aGc	p.N1673S	NF1_ENST00000356175.3_Missense_Mutation_p.N1652S|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1673	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTTACGACAACGTCTCCGCA	0.463			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(5017-5019)AAC>AGC		neurofibromin isoform 1							134.0	123.0	127.0					17																	29653020		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29653020A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5018A>G	17.37:g.29653020A>G	ENSP00000351015:p.Asn1673Ser	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.N1652S|NF1_uc002hgi.1_Missense_Mutation_p.N685S|NF1_uc010cso.2_5'UTR	p.N1673S	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5351	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1673			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5018A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726018	0.89298	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.70749	-0.51;-0.51;-0.51	5.83	5.83	0.93111	Cellular retinaldehyde-binding/triple function, C-terminal (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	0.974;0.973;1.0	P;D;D	0.76575	0.587;0.928;0.988	D	0.86254	0.1651	10	0.62326	D	0.03	.	15.3809	0.74654	1.0:0.0:0.0:0.0	.	702;1652;1673	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	S	1673;1652;1318	ENSP00000351015:N1673S;ENSP00000348498:N1652S;ENSP00000389907:N1318S	ENSP00000348498:N1652S	N	+	2	0	NF1	26677146	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.923000	0.92808	2.240000	0.73641	0.528000	0.53228	AAC		0.463	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		21	63	0	0	0	0.010504	0	21	63				
CCL7	6354	broad.mit.edu	37	17	32598262	32598262	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:32598262C>T	ENST00000378569.2	+	2	244	c.174C>T	c.(172-174)caC>caT	p.H58H	CCL7_ENST00000200307.4_Silent_p.H68H|CCL7_ENST00000394627.1_Missense_Mutation_p.T76I|CCL7_ENST00000394630.3_Intron	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	58					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCAGTAGCCACTGTCCCCGGG	0.493																																							uc002hhz.2		NA																	0				ovary(1)	1						c.(172-174)CAC>CAT		chemokine (C-C motif) ligand 7 precursor							96.0	101.0	99.0					17																	32598262		2203	4300	6503	SO:0001819	synonymous_variant	6354				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr17:32598262C>T	AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"""Chemokine ligands"", ""Endogenous ligands"""	10634	protein-coding gene	gene with protein product	"""monocyte chemoattractant protein 3"", ""monocyte chemotactic protein 3"""	158106	"""small inducible cytokine A7 (monocyte chemotactic protein 3)"""	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:c.174C>T	17.37:g.32598262C>T						CCL7_uc010ctf.2_Intron	p.H58H	NM_006273	NP_006264	P80098	CCL7_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	244	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	58					Q569J6	Silent	SNP	ENST00000378569.2	37	c.174C>T	CCDS11278.1	.	.	.	.	.	.	.	.	.	.	C	7.331	0.618927	0.14129	.	.	ENSG00000108688	ENST00000394627	.	.	.	4.43	-8.85	0.00799	.	.	.	.	.	T	0.53433	0.1796	.	.	.	0.43403	D	0.995535	.	.	.	.	.	.	T	0.66044	-0.6021	5	0.87932	D	0	.	6.0069	0.19551	0.0781:0.5696:0.1606:0.1917	.	.	.	.	I	86	.	ENSP00000378124:T86I	T	+	2	0	CCL7	29622375	0.000000	0.05858	0.553000	0.28255	0.004000	0.04260	-2.437000	0.01018	-1.294000	0.02360	-0.910000	0.02820	ACT		0.493	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256386.2	NM_006273		49	42	0	0	0	0.00361	0	49	42				
SLFN5	162394	broad.mit.edu	37	17	33592371	33592371	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:33592371A>T	ENST00000299977.4	+	5	2288	c.2140A>T	c.(2140-2142)Aat>Tat	p.N714Y	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	714					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGTGGTCCGCAATGCAGGTCC	0.507																																							uc002hjf.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2140-2142)AAT>TAT		schlafen family member 5							98.0	98.0	98.0					17																	33592371		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33592371A>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2140A>T	17.37:g.33592371A>T	ENSP00000299977:p.Asn714Tyr					SLFN5_uc010wcg.1_3'UTR	p.N714Y	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	5	2257	+		Ovarian(249;0.17)	714					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.2140A>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	a	9.883	1.202133	0.22121	.	.	ENSG00000166750	ENST00000299977	D	0.82167	-1.58	3.14	0.66	0.17868	.	0.954002	0.08539	N	0.930824	T	0.79082	0.4386	M	0.70595	2.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66404	-0.5932	10	0.66056	D	0.02	.	3.6179	0.08085	0.5432:0.2323:0.0:0.2245	.	714	Q08AF3	SLFN5_HUMAN	Y	714	ENSP00000299977:N714Y	ENSP00000299977:N714Y	N	+	1	0	SLFN5	30616484	0.023000	0.18921	0.000000	0.03702	0.003000	0.03518	1.283000	0.33237	-0.019000	0.14055	0.455000	0.32223	AAT		0.507	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		29	86	0	0	0	0.008361	0	29	86				
SLFN12	55106	broad.mit.edu	37	17	33738442	33738442	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:33738442G>A	ENST00000394562.1	-	6	2175	c.1652C>T	c.(1651-1653)gCa>gTa	p.A551V	SLFN12_ENST00000460530.1_5'UTR|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000304905.5_Missense_Mutation_p.A551V|SLFN12_ENST00000452764.3_Missense_Mutation_p.A551V			Q8IYM2	SLN12_HUMAN	schlafen family member 12	551							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAGATTTTCTGCAAAGGAAAA	0.368																																							uc002hji.3		NA																	0				skin(1)	1						c.(1651-1653)GCA>GTA		schlafen family member 12							47.0	51.0	49.0					17																	33738442		2202	4298	6500	SO:0001583	missense	55106						ATP binding	g.chr17:33738442G>A	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1652C>T	17.37:g.33738442G>A	ENSP00000378063:p.Ala551Val					SLFN12_uc002hjj.3_Missense_Mutation_p.A551V|SLFN12_uc010cts.2_Missense_Mutation_p.A551V	p.A551V	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	2029	-		Ovarian(249;0.17)	551					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.1652C>T	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	G	0.222	-1.027642	0.02045	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03272	3.99;3.99;3.99	1.72	0.515	0.17013	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B	0.28350	0.208	B	0.16722	0.016	T	0.45862	-0.9232	9	0.62326	D	0.03	.	4.4372	0.11555	0.0:0.0:0.3664:0.6336	.	551	Q8IYM2	SLN12_HUMAN	V	551	ENSP00000378063:A551V;ENSP00000302077:A551V;ENSP00000394903:A551V	ENSP00000302077:A551V	A	-	2	0	SLFN12	30762555	0.001000	0.12720	0.004000	0.12327	0.024000	0.10985	0.643000	0.24750	-0.048000	0.13401	0.195000	0.17529	GCA		0.368	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		42	30	0	0	0	0.006999	0	42	30				
GAS2L2	246176	broad.mit.edu	37	17	34072312	34072312	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:34072312C>A	ENST00000254466.6	-	6	2231	c.2204G>T	c.(2203-2205)aGc>aTc	p.S735I	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S719I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	735					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCCTCCGGGCTGGCAGACAC	0.632																																							uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(2203-2205)AGC>ATC		growth arrest-specific 2 like 2							92.0	99.0	97.0					17																	34072312		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072312C>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2204G>T	17.37:g.34072312C>A	ENSP00000254466:p.Ser735Ile						p.S735I	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2232	-		Ovarian(249;0.17)	735					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.2204G>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	9.929	1.214239	0.22289	.	.	ENSG00000132139	ENST00000254466	T	0.18657	2.2	4.44	1.08	0.20341	.	0.592256	0.17302	N	0.179207	T	0.12561	0.0305	L	0.27053	0.805	0.09310	N	1	P	0.44877	0.845	B	0.42522	0.39	T	0.11518	-1.0584	10	0.49607	T	0.09	-10.7694	2.6262	0.04930	0.189:0.5191:0.1837:0.1082	.	735	Q8NHY3	GA2L2_HUMAN	I	735	ENSP00000254466:S735I	ENSP00000254466:S735I	S	-	2	0	GAS2L2	31096425	0.000000	0.05858	0.798000	0.32154	0.032000	0.12392	-0.119000	0.10676	0.493000	0.27837	0.313000	0.20887	AGC		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		76	76	1	0	8.79861e-51	0.00361	1.86447e-50	76	76				
SYNRG	11276	broad.mit.edu	37	17	35945436	35945436	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:35945436G>T	ENST00000339208.6	-	5	614	c.474C>A	c.(472-474)ccC>ccA	p.P158P	SYNRG_ENST00000394378.2_Silent_p.P158P|SYNRG_ENST00000585472.1_Silent_p.P157P|SYNRG_ENST00000591288.1_Silent_p.P158P|SYNRG_ENST00000502449.2_Silent_p.P158P|SYNRG_ENST00000345615.4_Silent_p.P158P|SYNRG_ENST00000346661.4_Silent_p.P158P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	158					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATACTACCTTGGGTTTCACAC	0.443																																							uc002hoa.2		NA																	0				ovary(2)	2						c.(472-474)CCC>CCA		synergin, gamma isoform 1							213.0	202.0	206.0					17																	35945436		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35945436G>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.474C>A	17.37:g.35945436G>T						SYNRG_uc010wde.1_Silent_p.P158P|SYNRG_uc010wdf.1_Silent_p.P158P|SYNRG_uc002hoc.2_Silent_p.P157P|SYNRG_uc002hoe.2_Silent_p.P158P|SYNRG_uc002hod.2_Silent_p.P158P|SYNRG_uc010wdg.1_Silent_p.P158P|SYNRG_uc002hob.2_Silent_p.P158P|SYNRG_uc002hog.1_Silent_p.P191P|SYNRG_uc010wdh.1_Silent_p.P158P	p.P158P	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			5	557	-			158					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.474C>A	CCDS11321.1																																																																																				0.443	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		35	112	1	0	1.90571e-15	0.004289	2.97232e-15	35	112				
ORMDL3	94103	broad.mit.edu	37	17	38079405	38079405	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:38079405T>A	ENST00000394169.1	-	5	1780	c.286A>T	c.(286-288)Acg>Tcg	p.T96S	ORMDL3_ENST00000584220.1_Missense_Mutation_p.T80S|ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000304046.2_Missense_Mutation_p.T96S|ORMDL3_ENST00000579695.1_Missense_Mutation_p.T96S			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	96					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CGAGAGGCCGTGAACTGGACC	0.617																																							uc002htj.1		NA																	0					0						c.(286-288)ACG>TCG		ORM1-like 3							156.0	142.0	146.0					17																	38079405		2203	4300	6503	SO:0001583	missense	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38079405T>A		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.286A>T	17.37:g.38079405T>A	ENSP00000377724:p.Thr96Ser					ORMDL3_uc002hti.1_RNA|ORMDL3_uc002htk.1_Missense_Mutation_p.T96S	p.T96S	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Lung(15;0.0234)		3	426	-	Colorectal(19;0.000442)		96			Helical; (Potential).		B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	37	c.286A>T	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801815	0.90538	.	.	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	M	0.86573	2.825	0.80722	D	1	D	0.64830	0.994	D	0.79108	0.992	D	0.86066	0.1535	9	0.54805	T	0.06	-9.3512	15.414	0.74948	0.0:0.0:0.0:1.0	.	96	Q8N138	ORML3_HUMAN	S	96	.	ENSP00000304858:T96S	T	-	1	0	ORMDL3	35332931	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	8.040000	0.89188	2.046000	0.60703	0.533000	0.62120	ACG		0.617	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		43	75	0	0	0	0.00874	0	43	75				
KRTAP1-1	81851	broad.mit.edu	37	17	39197547	39197547	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39197547A>G	ENST00000306271.4	-	1	166	c.103T>C	c.(103-105)Tgc>Cgc	p.C35R		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	35			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CGTGGCTGGCAGGAGCTGGTC	0.617																																							uc002hvw.1		NA																	0					0						c.(103-105)TGC>CGC		keratin associated protein 1-1							49.0	63.0	58.0					17																	39197547		2017	4197	6214	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197547A>G	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.103T>C	17.37:g.39197547A>G	ENSP00000305975:p.Cys35Arg						p.C35R	NM_030967	NP_112229	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	167	-		Breast(137;0.000496)	35		Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.103T>C	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.897532	0.52121	.	.	ENSG00000188581	ENST00000306271	T	0.50001	0.76	3.25	2.14	0.27477	.	.	.	.	.	T	0.61899	0.2384	M	0.89353	3.025	0.53688	D	0.999975	D	0.53462	0.96	P	0.54100	0.742	T	0.64206	-0.6462	9	0.66056	D	0.02	.	7.5183	0.27614	0.8086:0.0:0.0:0.1913	.	35	Q07627	KRA11_HUMAN	R	35	ENSP00000305975:C35R	ENSP00000305975:C35R	C	-	1	0	KRTAP1-1	36451073	0.998000	0.40836	0.975000	0.42487	0.794000	0.44872	0.832000	0.27490	0.584000	0.29591	0.491000	0.48974	TGC		0.617	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		37	106	0	0	0	0.004878	0	37	106				
KRT34	3885	broad.mit.edu	37	17	39535648	39535648	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39535648G>T	ENST00000394001.1	-	5	989	c.959C>A	c.(958-960)aCa>aAa	p.T320K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	320	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)			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)				GGCGTTGACTGTGCGTCTCAG	0.597																																							uc002hwm.2		NA																	0				central_nervous_system(1)	1						c.(958-960)ACA>AAA		keratin 34							132.0	107.0	115.0					17																	39535648		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535648G>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.959C>A	17.37:g.39535648G>T	ENSP00000377570:p.Thr320Lys						p.T320K	NM_021013	NP_066293	O76011	KRT34_HUMAN			5	971	-		Breast(137;0.000496)	320			Rod.|Coil 2.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.959C>A	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.224365	0.39300	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	4.9	3.92	0.45320	Filament (1);	0.000000	0.64402	D	0.000003	T	0.63651	0.2529	M	0.87097	2.86	0.33824	D	0.629376	P	0.35192	0.489	B	0.39935	0.314	T	0.75516	-0.3290	9	0.87932	D	0	.	8.5318	0.33340	0.0837:0.0:0.7558:0.1606	.	320	O76011	KRT34_HUMAN	K	278;320	.	ENSP00000251648:T320K	T	-	2	0	KRT34	36789174	0.001000	0.12720	0.998000	0.56505	0.061000	0.15899	0.955000	0.29188	1.188000	0.43014	-0.300000	0.09419	ACA		0.597	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		20	94	1	0	3.5997e-14	0.002299	5.44158e-14	20	94				
KRT31	3881	broad.mit.edu	37	17	39551818	39551818	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39551818C>A	ENST00000251645.2	-	4	698	c.646G>T	c.(646-648)Gct>Tct	p.A216S		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	216	Linker 12.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACAGTGGGAGCAGCATCCACC	0.542																																							uc002hwn.2		NA																	0					0						c.(646-648)GCT>TCT		keratin 31							91.0	81.0	84.0					17																	39551818		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551818C>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.646G>T	17.37:g.39551818C>A	ENSP00000251645:p.Ala216Ser					KRT31_uc010cxn.2_Missense_Mutation_p.A216S	p.A216S	NM_002277	NP_002268	Q15323	K1H1_HUMAN			4	699	-		Breast(137;0.000496)	216			Linker 12.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.646G>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.149172	0.78001	.	.	ENSG00000094796	ENST00000251645	T	0.80824	-1.42	5.1	5.1	0.69264	Filament (1);	0.000000	0.64402	D	0.000007	D	0.90191	0.6934	M	0.79693	2.465	0.33768	D	0.622712	D	0.89917	1.0	D	0.87578	0.998	D	0.93697	0.7012	10	0.87932	D	0	.	17.8786	0.88833	0.0:1.0:0.0:0.0	.	216	Q15323	K1H1_HUMAN	S	216	ENSP00000251645:A216S	ENSP00000251645:A216S	A	-	1	0	KRT31	36805344	0.991000	0.36638	0.982000	0.44146	0.748000	0.42578	3.383000	0.52471	2.516000	0.84829	0.563000	0.77884	GCT		0.542	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		25	41	1	0	5.35047e-06	0.00333	6.20446e-06	25	41				
KRT31	3881	broad.mit.edu	37	17	39553206	39553206	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39553206C>A	ENST00000251645.2	-	2	442	c.390G>T	c.(388-390)caG>caT	p.Q130H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	130	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGTTGTCGATCTGCACCACAA	0.428																																							uc002hwn.2		NA																	0					0						c.(388-390)CAG>CAT		keratin 31							96.0	88.0	91.0					17																	39553206		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39553206C>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.390G>T	17.37:g.39553206C>A	ENSP00000251645:p.Gln130His					KRT31_uc010cxn.2_Missense_Mutation_p.Q130H	p.Q130H	NM_002277	NP_002268	Q15323	K1H1_HUMAN			2	443	-		Breast(137;0.000496)	130			Rod.|Coil 1B.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.390G>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	16.34	3.094778	0.56075	.	.	ENSG00000094796	ENST00000251645	D	0.89617	-2.54	5.26	4.28	0.50868	Filament (1);	0.223003	0.31897	N	0.006882	D	0.87422	0.6173	M	0.62266	1.93	0.35793	D	0.822526	B	0.18863	0.031	B	0.23852	0.049	D	0.87477	0.2418	10	0.59425	D	0.04	.	13.225	0.59909	0.0:0.9225:0.0:0.0775	.	130	Q15323	K1H1_HUMAN	H	130	ENSP00000251645:Q130H	ENSP00000251645:Q130H	Q	-	3	2	KRT31	36806732	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	0.894000	0.28350	1.193000	0.43086	0.655000	0.94253	CAG		0.428	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		29	30	1	0	3.90053e-15	0.002445	5.99822e-15	29	30				
KRT19	3880	broad.mit.edu	37	17	39684352	39684352	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39684352C>A	ENST00000361566.3	-	1	208	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	50	Head.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				ACAAAGCGGGCGGAGGACACG	0.741																																							uc002hxd.3		NA																	0					0						c.(148-150)GCC>TCC		keratin 19							12.0	19.0	16.0					17																	39684352		2182	4253	6435	SO:0001583	missense	3880				interspecies interaction between organisms|response to estrogen stimulus|sarcomere organization	costamere|intermediate filament	protein binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr17:39684352C>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.148G>T	17.37:g.39684352C>A	ENSP00000355124:p.Ala50Ser					JUP_uc010wfs.1_Intron	p.A50S	NM_002276	NP_002267	P08727	K1C19_HUMAN			1	290	-		Breast(137;0.00038)	50			Head.		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.148G>T	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.279360	0.01410	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;T	0.82167	-1.58;-1.29	3.83	0.742	0.18341	.	0.174943	0.27650	N	0.018426	T	0.64046	0.2563	N	0.19112	0.55	0.26339	N	0.977399	B	0.12013	0.005	B	0.17979	0.02	T	0.47898	-0.9081	10	0.05525	T	0.97	.	9.0686	0.36478	0.0:0.748:0.0:0.252	.	50	P08727	K1C19_HUMAN	S	50	ENSP00000355124:A50S;ENSP00000408759:A50S	ENSP00000355124:A50S	A	-	1	0	KRT19	36937878	0.059000	0.20769	0.089000	0.20774	0.002000	0.02628	0.285000	0.18883	0.206000	0.20587	-1.036000	0.02392	GCC		0.741	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		16	22	1	0	3.32936e-07	0.006122	4.00085e-07	16	22				
KRT16	3868	broad.mit.edu	37	17	39766755	39766755	+	Missense_Mutation	SNP	T	T	A	rs201334428	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39766755T>A	ENST00000301653.4	-	6	1172	c.1108A>T	c.(1108-1110)Atg>Ttg	p.M370L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	370	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GACAGCTGCATGCAGTAGCGG	0.562																																							uc002hxg.3		NA																	0				skin(1)	1						c.(1108-1110)ATG>TTG		keratin 16							62.0	61.0	61.0					17																	39766755		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39766755T>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1108A>T	17.37:g.39766755T>A	ENSP00000301653:p.Met370Leu					JUP_uc010wfs.1_Intron	p.M370L	NM_005557	NP_005548	P08779	K1C16_HUMAN			6	1247	-		Breast(137;0.000307)	370			Rod.|Coil 2.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.1108A>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674220	0.29693	.	.	ENSG00000186832	ENST00000301653	D	0.88046	-2.33	4.28	-0.499	0.12015	Filament (1);	0.337465	0.25310	N	0.031589	T	0.72137	0.3423	N	0.16567	0.415	0.22185	N	0.999304	B	0.06786	0.001	B	0.11329	0.006	T	0.59537	-0.7436	10	0.42905	T	0.14	.	5.6158	0.17430	0.0:0.3111:0.2813:0.4076	.	370	P08779	K1C16_HUMAN	L	370	ENSP00000301653:M370L	ENSP00000301653:M370L	M	-	1	0	KRT16	37020281	0.000000	0.05858	0.995000	0.50966	0.992000	0.81027	-2.130000	0.01312	-0.004000	0.14419	0.379000	0.24179	ATG		0.562	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		40	38	0	0	0	0.006999	0	40	38				
JUP	3728	broad.mit.edu	37	17	39913690	39913690	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:39913690G>T	ENST00000393931.3	-	12	2141	c.2023C>A	c.(2023-2025)Cat>Aat	p.H675N	JUP_ENST00000393930.1_Missense_Mutation_p.H675N|JUP_ENST00000310706.5_Missense_Mutation_p.H675N|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	675					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCGGGTCATGCTTGAAGAGG	0.592																																					Colon(16;42 520 6044 17852 28530)	Colon(16;42 520 6044 17852 28530)	uc002hxq.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(2023-2025)CAT>AAT		junction plakoglobin							117.0	107.0	110.0					17																	39913690		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39913690G>T	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2023C>A	17.37:g.39913690G>T	ENSP00000377508:p.His675Asn					JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.H675N|JUP_uc002hxs.2_Missense_Mutation_p.H675N	p.H675N	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	12	2300	-		Breast(137;0.000162)	675					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.2023C>A	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334089	0.24253	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.61040	0.14;0.14;0.14	5.15	5.15	0.70609	.	0.052525	0.85682	D	0.000000	T	0.47728	0.1461	L	0.32530	0.975	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33523	-0.9865	10	0.22706	T	0.39	-26.7042	17.3724	0.87382	0.0:0.0:1.0:0.0	.	675	P14923	PLAK_HUMAN	N	675	ENSP00000377507:H675N;ENSP00000311113:H675N;ENSP00000377508:H675N	ENSP00000311113:H675N	H	-	1	0	JUP	37167216	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.406000	0.52637	2.677000	0.91161	0.561000	0.74099	CAT		0.592	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			46	37	1	0	2.77807e-22	0.003214	5.02027e-22	46	37				
KCNH4	23415	broad.mit.edu	37	17	40328139	40328139	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:40328139A>T	ENST00000264661.3	-	5	1094	c.762T>A	c.(760-762)gaT>gaA	p.D254E	KCNH4_ENST00000607371.1_Missense_Mutation_p.D254E	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	254					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGGGTGTCATCGTCACCCG	0.577																																					NSCLC(117;707 1703 2300 21308 31858)	NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NA																	0				large_intestine(1)	1						c.(760-762)GAT>GAA		potassium voltage-gated channel, subfamily H,							152.0	123.0	133.0					17																	40328139		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328139A>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.762T>A	17.37:g.40328139A>T	ENSP00000264661:p.Asp254Glu						p.D254E	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	1095	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	254			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264661.3	37	c.762T>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	A	8.664	0.901330	0.17760	.	.	ENSG00000089558	ENST00000264661	D	0.97303	-4.33	5.45	-10.9	0.00192	.	0.000000	0.42053	D	0.000770	D	0.89567	0.6752	N	0.20986	0.625	0.21675	N	0.999592	B	0.16802	0.019	B	0.15484	0.013	T	0.70963	-0.4729	10	0.20046	T	0.44	.	12.6132	0.56561	0.7638:0.0716:0.0967:0.0679	.	254	Q9UQ05	KCNH4_HUMAN	E	254	ENSP00000264661:D254E	ENSP00000264661:D254E	D	-	3	2	KCNH4	37581665	0.001000	0.12720	0.088000	0.20740	0.349000	0.29174	-1.406000	0.02490	-2.673000	0.00413	-1.151000	0.01829	GAT		0.577	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		75	57	0	0	0	0.00361	0	75	57				
ATP6V0A1	535	broad.mit.edu	37	17	40673079	40673079	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:40673079G>T	ENST00000343619.4	+	22	2578	c.2455G>T	c.(2455-2457)Ggt>Tgt	p.G819C	ATP6V0A1_ENST00000587797.1_3'UTR|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G465C|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G770C|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G813C|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G820C|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G776C|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G819C	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	819					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CAGCGGGACCGGTTTCAAGTT	0.483																																							uc002hzr.2		NA																	0				pancreas(1)	1						c.(2455-2457)GGT>TGT		ATPase, H+ transporting, lysosomal V0 subunit a1							160.0	167.0	165.0					17																	40673079		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40673079G>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2455G>T	17.37:g.40673079G>T	ENSP00000342951:p.Gly819Cys					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.G813C|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.G820C|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.G776C|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.G770C|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.G465C|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.G678C|ATP6V0A1_uc002hzt.2_Missense_Mutation_p.G103C|ATP6V0A1_uc002hzu.2_Silent_p.P103P	p.G819C	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	22	2622	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	819			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.2455G>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126335	0.94429	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	H	0.97918	4.105	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99406	1.0929	10	0.87932	D	0	-14.2457	18.8291	0.92130	0.0:0.0:1.0:0.0	.	770;776;820;819;813	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	C	819;819;813;820;770;465	ENSP00000342951:G819C;ENSP00000444676:G819C;ENSP00000377415:G813C;ENSP00000264649:G820C;ENSP00000443991:G770C;ENSP00000446377:G465C	ENSP00000264649:G820C	G	+	1	0	ATP6V0A1	37926605	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.601000	0.98297	2.781000	0.95711	0.650000	0.86243	GGT		0.483	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		69	168	1	0	9.07738e-34	0.00361	1.83611e-33	69	168				
ETV4	2118	broad.mit.edu	37	17	41622670	41622670	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:41622670C>T	ENST00000319349.5	-	3	424	c.126G>A	c.(124-126)ccG>ccA	p.P42P	ETV4_ENST00000393664.2_Silent_p.P42P|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545954.1_Silent_p.P3P|ETV4_ENST00000538265.1_Silent_p.P3P|ETV4_ENST00000591713.1_Silent_p.P42P|ETV4_ENST00000545089.1_Silent_p.P42P	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	42					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCAGGGAGCCCGGGTCCATGA	0.627			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	Esophageal Squamous(116;1540 1611 12927 31103 34118)	uc002idw.2		NA		Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	EWSR1|TMPRSS2|DDX5|KLK2|CANT1		Ewing sarcoma|Prostate carcinoma	EWSR1/ETV4(6)	0				bone(4)|soft_tissue(2)|ovary(1)	7						c.(124-126)CCG>CCA		ets variant gene 4 (E1A enhancer binding							16.0	18.0	17.0					17																	41622670		2189	4274	6463	SO:0001819	synonymous_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41622670C>T	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.126G>A	17.37:g.41622670C>T						ETV4_uc010wih.1_Silent_p.P42P|ETV4_uc010czh.2_Silent_p.P42P|ETV4_uc010wii.1_Silent_p.P3P|ETV4_uc002idx.2_Silent_p.P42P|ETV4_uc010wij.1_Silent_p.P3P|ETV4_uc002idy.1_Silent_p.P3P	p.P42P	NM_001986	NP_001977	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	3	254	-		Breast(137;0.00908)	42					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	c.126G>A	CCDS11465.1																																																																																				0.627	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		7	13	0	0	0	0.00308	0	7	13				
NPEPPS	9520	broad.mit.edu	37	17	45669379	45669379	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:45669379A>G	ENST00000322157.4	+	11	1555	c.1318A>G	c.(1318-1320)Aaa>Gaa	p.K440E	NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436E|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360E	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	440					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ATCATATAGCAAAGGTGCATC	0.383																																							uc002ilr.3		NA																	0					0						c.(1318-1320)AAA>GAA		aminopeptidase puromycin sensitive							154.0	90.0	111.0					17																	45669379		1977	4119	6096	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45669379A>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1318A>G	17.37:g.45669379A>G	ENSP00000320324:p.Lys440Glu					NPEPPS_uc010wkt.1_Missense_Mutation_p.K436E|NPEPPS_uc010wku.1_Missense_Mutation_p.K404E|NPEPPS_uc010wkv.1_5'UTR	p.K440E	NM_006310	NP_006301	P55786	PSA_HUMAN			11	1541	+			440					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.1318A>G	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.903713	0.92035	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.51	5.51	0.81932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.80065	-0.1538	10	0.87932	D	0	.	15.6257	0.76855	1.0:0.0:0.0:0.0	.	440;436;440	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	E	436;440;427;360;123;137	ENSP00000433287:K436E;ENSP00000320324:K440E;ENSP00000442461:K360E;ENSP00000435639:K123E;ENSP00000435966:K137E	ENSP00000320324:K440E	K	+	1	0	NPEPPS	43024378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	2.099000	0.63709	0.528000	0.53228	AAA		0.383	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		4	72	0	0	0	0.000602	0	4	72				
HOXB3	3213	broad.mit.edu	37	17	46629746	46629746	+	Missense_Mutation	SNP	C	C	A	rs189100448		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:46629746C>A	ENST00000470495.1	-	1	1538	c.91G>T	c.(91-93)Gtc>Ttc	p.V31F	HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.V31F|HOXB3_ENST00000476342.1_Missense_Mutation_p.V31F|HOXB3_ENST00000489475.1_Intron|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.V31F|HOXB3_ENST00000485909.2_Intron			P14651	HXB3_HUMAN	homeobox B3	31					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGGGGGGGGACATCGAAGCCG	0.642																																							uc002inn.2		NA																	0					0						c.(91-93)GTC>TTC		homeobox B3							33.0	39.0	37.0					17																	46629746		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629746C>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.91G>T	17.37:g.46629746C>A	ENSP00000417207:p.Val31Phe					HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Missense_Mutation_p.V31F|HOXB3_uc010dbg.2_Missense_Mutation_p.V31F|HOXB3_uc002ino.2_Missense_Mutation_p.V31F|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Intron	p.V31F	NM_002146	NP_002137	P14651	HXB3_HUMAN			1	491	-			31					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.91G>T	CCDS11528.1	40	0.018315018315018316	10	0.02032520325203252	4	0.011049723756906077	11	0.019230769230769232	15	0.01978891820580475	C	10.36	1.329746	0.24167	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	3.94	2.96	0.34315	.	0.374396	0.26362	U	0.024815	T	0.68595	0.3018	N	0.08118	0	0.80722	D	1	B	0.15141	0.012	B	0.15052	0.012	T	0.72544	-0.4261	10	0.87932	D	0	.	11.9172	0.52771	0.0:0.9134:0.0:0.0866	.	31	P14651	HXB3_HUMAN	F	31	ENSP00000417207:V31F;ENSP00000308252:V31F;ENSP00000420595:V31F;ENSP00000418892:V31F	ENSP00000308252:V31F	V	-	1	0	HOXB3	43984745	0.542000	0.26426	0.526000	0.27913	0.004000	0.04260	3.444000	0.52914	0.994000	0.38892	0.561000	0.74099	GTC		0.642	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			13	58	1	0	1.41608e-15	0.001855	2.22081e-15	13	58				
HOXB9	3219	broad.mit.edu	37	17	46703298	46703298	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:46703298C>A	ENST00000311177.5	-	1	541	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C	HOXB-AS4_ENST00000480386.1_RNA|HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	112					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GCCGCCTGGCCCTGCCCCGGG	0.741																																							uc002inx.2		NA																	0					0						c.(334-336)GGC>TGC		homeobox B9							5.0	6.0	6.0					17																	46703298		1965	3984	5949	SO:0001583	missense	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703298C>A		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.334G>T	17.37:g.46703298C>A	ENSP00000309439:p.Gly112Cys						p.G112C	NM_024017	NP_076922	P17482	HXB9_HUMAN			1	538	-			112					B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	c.334G>T	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545942	0.65198	.	.	ENSG00000170689	ENST00000311177	D	0.94138	-3.36	4.56	3.52	0.40303	Hox9, N-terminal activation domain (1);	0.194806	0.43416	D	0.000568	D	0.92414	0.7592	L	0.36672	1.1	0.80722	D	1	D	0.55172	0.97	P	0.53266	0.722	D	0.92799	0.6255	10	0.52906	T	0.07	.	15.0965	0.72238	0.0:0.858:0.142:0.0	.	112	P17482	HXB9_HUMAN	C	112	ENSP00000309439:G112C	ENSP00000309439:G112C	G	-	1	0	HOXB9	44058297	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.376000	0.52417	2.220000	0.72140	0.555000	0.69702	GGC		0.741	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			11	3	1	0	0.000673444	0.008291	0.000717266	11	3				
IGF2BP1	10642	broad.mit.edu	37	17	47115774	47115774	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:47115774G>A	ENST00000290341.3	+	6	980	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	216	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAAGGAGGGGGCCACCATCCG	0.587																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2		NA																	0				kidney(1)	1						c.(646-648)GCC>ACC		insulin-like growth factor 2 mRNA binding							14.0	15.0	15.0					17																	47115774		2199	4300	6499	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47115774G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.646G>A	17.37:g.47115774G>A	ENSP00000290341:p.Ala216Thr					IGF2BP1_uc010dbj.2_Intron	p.A216T	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			6	980	+			216			KH 1.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.646G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799835	0.50208	.	.	ENSG00000159217	ENST00000290341	T	0.32515	1.45	5.66	5.66	0.87406	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.45422	1.42	0.80722	D	1	B	0.21071	0.051	B	0.29077	0.098	T	0.05582	-1.0876	10	0.23302	T	0.38	-14.1235	19.3509	0.94384	0.0:0.0:1.0:0.0	.	216	Q9NZI8	IF2B1_HUMAN	T	216	ENSP00000290341:A216T	ENSP00000290341:A216T	A	+	1	0	IGF2BP1	44470773	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	3.910000	0.56371	2.656000	0.90262	0.655000	0.94253	GCC		0.587	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		7	14	0	0	0	0.001984	0	7	14				
LUC7L3	51747	broad.mit.edu	37	17	48821101	48821101	+	Missense_Mutation	SNP	A	A	C	rs367575476		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:48821101A>C	ENST00000505658.1	+	6	650	c.461A>C	c.(460-462)gAa>gCa	p.E154A	LUC7L3_ENST00000393227.2_Missense_Mutation_p.E154A|LUC7L3_ENST00000240304.1_Missense_Mutation_p.E154A|LUC7L3_ENST00000544170.1_Missense_Mutation_p.E78A			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	154					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAGTAGAAGAAGCCCAGGGG	0.373													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17384	0.0		0.0	False		,,,				2504	0.0						uc002isr.2		NA																	0					0						c.(460-462)GAA>GCA		LUC7-like 3							88.0	88.0	88.0					17																	48821101		2203	4300	6503	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48821101A>C		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.461A>C	17.37:g.48821101A>C	ENSP00000425092:p.Glu154Ala					LUC7L3_uc002isp.1_Missense_Mutation_p.E78A|LUC7L3_uc010wmw.1_Missense_Mutation_p.E78A|LUC7L3_uc002isq.2_Missense_Mutation_p.E154A|LUC7L3_uc002iss.2_Missense_Mutation_p.E154A	p.E154A	NM_006107	NP_006098	O95232	LC7L3_HUMAN			6	578	+			154			Potential.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.461A>C	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.729415	0.89390	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.35236	1.32;1.32;1.32;1.57	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.64997	1.995	0.80722	D	1	P;D;D	0.69078	0.935;0.979;0.997	P;D;D	0.77004	0.841;0.973;0.989	T	0.59129	-0.7512	10	0.54805	T	0.06	-18.0499	15.873	0.79136	1.0:0.0:0.0:0.0	.	78;154;154	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	A	154;154;154;154;78	ENSP00000425092:E154A;ENSP00000376919:E154A;ENSP00000240304:E154A;ENSP00000444253:E78A	ENSP00000240304:E154A	E	+	2	0	LUC7L3	46176100	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	9.287000	0.95975	2.201000	0.70794	0.460000	0.39030	GAA		0.373	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		47	19	0	0	0	0.00361	0	47	19				
KIF2B	84643	broad.mit.edu	37	17	51902054	51902054	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:51902054C>A	ENST00000268919.4	+	1	1816	c.1660C>A	c.(1660-1662)Cac>Aac	p.H554N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	554					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)			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						CCATCGTGGCCACTATCCGAT	0.393																																							uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(1660-1662)CAC>AAC		kinesin family member 2B							79.0	79.0	79.0					17																	51902054		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.chr17:51902054C>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.1660C>A	17.37:g.51902054C>A	ENSP00000268919:p.His554Asn					uc010wna.1_RNA	p.H554N	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1816	+			554					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1660C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.670955	0.00758	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73047	-0.71	5.42	-0.216	0.13153	.	0.841724	0.09660	N	0.772580	T	0.44307	0.1287	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.20955	0.032	T	0.25606	-1.0127	10	0.16896	T	0.51	.	5.0324	0.14417	0.0:0.4435:0.2624:0.2941	.	554	Q8N4N8	KIF2B_HUMAN	N	554;442	ENSP00000268919:H554N	ENSP00000268919:H554N	H	+	1	0	KIF2B	49257053	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.054000	0.14205	-0.147000	0.11254	-0.136000	0.14681	CAC		0.393	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		73	25	1	0	3.94896e-32	0.00361	7.89793e-32	73	25				
VEZF1	7716	broad.mit.edu	37	17	56060145	56060145	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:56060145C>A	ENST00000581208.1	-	2	683	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	VEZF1_ENST00000584396.1_Missense_Mutation_p.D206Y	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	215					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|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)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTCATCCGGTCCTTCCTCTTG	0.473																																							uc002ivf.1		NA																	0				ovary(1)|breast(1)	2						c.(643-645)GAC>TAC		zinc finger protein 161							121.0	106.0	111.0					17																	56060145		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060145C>A	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.643G>T	17.37:g.56060145C>A	ENSP00000462337:p.Asp215Tyr					VEZF1_uc010dcn.1_Missense_Mutation_p.D59Y	p.D215Y	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			2	786	-			215			C2H2-type 3.			Missense_Mutation	SNP	ENST00000581208.1	37	c.643G>T	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710000	0.68730	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	N	0.21617	0.685	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.68800	-0.5313	9	0.56958	D	0.05	-3.7562	19.3617	0.94442	0.0:1.0:0.0:0.0	.	215	Q14119	VEZF1_HUMAN	Y	215	.	ENSP00000258963:D215Y	D	-	1	0	VEZF1	53415144	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.590000	0.87494	0.643000	0.83706	GAC		0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			26	87	1	0	8.58068e-18	0.007291	1.42744e-17	26	87				
HSF5	124535	broad.mit.edu	37	17	56565295	56565295	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:56565295G>A	ENST00000323777.3	-	1	450	c.341C>T	c.(340-342)cCg>cTg	p.P114L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	114					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGGAAGTGCGGGTTGTGGAA	0.701																																							uc002iwi.1		NA																	0				ovary(2)|skin(1)	3						c.(340-342)CCG>CTG		heat shock transcription factor family member 5							34.0	38.0	37.0					17																	56565295		2202	4296	6498	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565295G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.341C>T	17.37:g.56565295G>A	ENSP00000313243:p.Pro114Leu						p.P114L	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			1	465	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		114			By similarity.		Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.341C>T	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885696	0.33255	.	.	ENSG00000176160	ENST00000323777	D	0.91945	-2.94	3.36	3.36	0.38483	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.000000	0.41823	D	0.000808	D	0.91150	0.7213	M	0.83774	2.66	0.80722	D	1	P	0.44816	0.844	B	0.38296	0.27	D	0.91753	0.5414	9	.	.	.	.	13.8717	0.63624	0.0:0.0:1.0:0.0	.	114	Q4G112	HSF5_HUMAN	L	114	ENSP00000313243:P114L	.	P	-	2	0	HSF5	53920294	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	4.987000	0.63857	1.910000	0.55303	0.456000	0.33151	CCG		0.701	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		14	54	0	0	0	0.001855	0	14	54				
BRIP1	83990	broad.mit.edu	37	17	59793421	59793421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:59793421C>A	ENST00000259008.2	-	17	2650	c.2383G>T	c.(2383-2385)Gaa>Taa	p.E795*	BRIP1_ENST00000577598.1_Nonsense_Mutation_p.E795*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	795					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CGTTTTAGTTCAACCtaataa	0.294			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(2383-2385)GAA>TAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							39.0	36.0	37.0					17																	59793421		2203	4300	6503	SO:0001587	stop_gained	83990	FanconAnemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59793421C>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2383G>T	17.37:g.59793421C>A	ENSP00000259008:p.Glu795*					BRIP1_uc002izl.1_Nonsense_Mutation_p.E176*	p.E795*	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			17	2524	-			795					Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	ENST00000259008.2	37	c.2383G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	40	8.498193	0.98836	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6748	18.6735	0.91519	0.0:1.0:0.0:0.0	.	.	.	.	X	795	.	.	E	-	1	0	BRIP1	57148203	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.263000	0.78421	2.646000	0.89796	0.561000	0.74099	GAA		0.294	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		24	9	1	0	1.96895e-08	0.00278	2.46378e-08	24	9				
GH1	2688	broad.mit.edu	37	17	61994796	61994796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:61994796G>T	ENST00000323322.5	-	5	569	c.527C>A	c.(526-528)tCa>tAa	p.S176*	GH1_ENST00000351388.4_Nonsense_Mutation_p.S136*|GH1_ENST00000342364.4_Nonsense_Mutation_p.S81*|GH1_ENST00000458650.2_Nonsense_Mutation_p.S161*|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	176					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)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ATCGTTGTGTGAGTTTGTGTC	0.552																																							uc002jdj.2		NA																	0					0						c.(526-528)TCA>TAA		growth hormone 1 isoform 1							293.0	224.0	248.0					17																	61994796		2203	4300	6503	SO:0001587	stop_gained	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.chr17:61994796G>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.527C>A	17.37:g.61994796G>T	ENSP00000312673:p.Ser176*					GH1_uc002jdi.2_Nonsense_Mutation_p.S161*|GH1_uc002jdk.2_Nonsense_Mutation_p.S136*|GH1_uc002jdl.2_Nonsense_Mutation_p.S81*|GH1_uc002jdm.2_Silent_p.L27L|GH1_uc002jdn.2_Missense_Mutation_p.H130N	p.S176*	NM_000515	NP_000506	P01241	SOMA_HUMAN			5	589	-			176					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Nonsense_Mutation	SNP	ENST00000323322.5	37	c.527C>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	0.461	-0.889140	0.02511	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	.	.	.	2.62	1.52	0.23074	.	1.417830	0.05002	N	0.469349	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	6.0832	0.19952	0.8574:0.0:0.1426:0.0	.	.	.	.	X	176;161;136;81	.	ENSP00000312673:S176X	S	-	2	0	GH1	59348528	0.886000	0.30341	0.005000	0.12908	0.005000	0.04900	4.283000	0.58977	0.261000	0.21753	0.298000	0.19748	TCA		0.552	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		96	46	1	0	5.62478e-27	0.00361	1.07657e-26	96	46				
ERN1	2081	broad.mit.edu	37	17	62126469	62126469	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:62126469C>T	ENST00000433197.3	-	18	2442	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						AGGATGTTGGCCTGCCGCTGC	0.587																																							uc002jdz.2		NA																	0				central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(2347-2349)GCC>ACC		endoplasmic reticulum to nucleus signalling 1							47.0	51.0	50.0					17																	62126469		1981	4163	6144	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62126469C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2347G>A	17.37:g.62126469C>T	ENSP00000401445:p.Ala783Thr						p.A783T	NM_001433	NP_001424	O75460	ERN1_HUMAN			18	2460	-			783			Cytoplasmic (Potential).|Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2347G>A	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153403	0.94645	.	.	ENSG00000178607	ENST00000433197	T	0.65364	-0.15	6.04	6.04	0.98038	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	0.67088	0.2856	N	0.25957	0.775	0.80722	D	1	D	0.58620	0.983	D	0.65573	0.936	T	0.68123	-0.5492	10	0.59425	D	0.04	-31.6865	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	783	O75460	ERN1_HUMAN	T	783	ENSP00000401445:A783T	ENSP00000401445:A783T	A	-	1	0	ERN1	59480201	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.656000	0.67988	2.873000	0.98535	0.561000	0.74099	GCC		0.587	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		19	56	0	0	0	0.008871	0	19	56				
ABCA5	23461	broad.mit.edu	37	17	67266797	67266797	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:67266797T>A	ENST00000392676.3	-	22	3051	c.2987A>T	c.(2986-2988)aAt>aTt	p.N996I	ABCA5_ENST00000392677.2_Missense_Mutation_p.N997I|ABCA5_ENST00000588877.1_Missense_Mutation_p.N996I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	996					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)			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)	TTCAGTCACATTTAAATGATA	0.303																																							uc002jif.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2986-2988)AAT>ATT		ATP-binding cassette, sub-family A , member 5							111.0	126.0	121.0					17																	67266797		2203	4273	6476	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.chr17:67266797T>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.2987A>T	17.37:g.67266797T>A	ENSP00000376443:p.Asn996Ile					ABCA5_uc002jib.2_5'Flank|ABCA5_uc002jic.2_Missense_Mutation_p.N219I|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.N996I	p.N996I	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			21	4205	-	Breast(10;3.72e-11)		996					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2987A>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978199	0.74360	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.81579	-1.51;-1.51	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000002	D	0.88303	0.6400	M	0.79926	2.475	0.48901	D	0.999724	D	0.89917	1.0	D	0.78314	0.991	D	0.88576	0.3133	9	.	.	.	.	9.0953	0.36636	0.0:0.0833:0.0:0.9167	.	996	Q8WWZ7	ABCA5_HUMAN	I	997;996	ENSP00000376444:N997I;ENSP00000376443:N996I	.	N	-	2	0	ABCA5	64778392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.102000	0.57776	2.062000	0.61559	0.482000	0.46254	AAT		0.303	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		65	208	0	0	0	0.00361	0	65	208				
KCNJ16	3773	broad.mit.edu	37	17	68128878	68128878	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:68128878G>T	ENST00000589377.1	+	2	813	c.650G>T	c.(649-651)aGa>aTa	p.R217I	KCNJ16_ENST00000585558.1_Missense_Mutation_p.R252I|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R217I|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R217I|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R256I|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R217I	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	217					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GGAACAGTTAGAGCCCAACTT	0.473																																							uc002jin.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(649-651)AGA>ATA		potassium inwardly-rectifying channel J16							70.0	62.0	65.0					17																	68128878		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128878G>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.650G>T	17.37:g.68128878G>T	ENSP00000465967:p.Arg217Ile					KCNJ16_uc002jio.2_Missense_Mutation_p.R217I|KCNJ16_uc002jip.2_Missense_Mutation_p.R217I|KCNJ16_uc002jiq.2_Missense_Mutation_p.R249I	p.R217I	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	1136	+	Breast(10;2.96e-09)		217			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000589377.1	37	c.650G>T	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153167	0.38021	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.92858	-3.12;-3.12;-3.12	5.84	5.84	0.93424	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.321775	0.33916	N	0.004435	D	0.96565	0.8879	M	0.87097	2.86	0.21473	N	0.999674	D;D	0.76494	0.999;0.997	D;P	0.66847	0.947;0.852	D	0.91515	0.5230	9	.	.	.	.	19.7486	0.96260	0.0:0.0:1.0:0.0	.	217;217	A8K434;Q9NPI9	.;IRK16_HUMAN	I	217	ENSP00000283936:R217I;ENSP00000376439:R217I;ENSP00000376438:R217I	.	R	+	2	0	KCNJ16	65640473	0.854000	0.29725	0.074000	0.20217	0.002000	0.02628	3.990000	0.56965	2.764000	0.94973	0.650000	0.86243	AGA		0.473	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		59	19	1	0	6.3091e-27	0.00361	1.20593e-26	59	19				
SUMO2	6613	broad.mit.edu	37	17	73177235	73177235	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:73177235C>A	ENST00000420826.2	-	2	218	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	SUMO2_ENST00000578238.1_5'UTR|SUMO2_ENST00000314523.7_Missense_Mutation_p.G24W	NM_006937.3	NP_008868.3			small ubiquitin-like modifier 2											NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCATCCTGCCCCGCCACCTTC	0.383																																							uc002jne.2		NA																	0					0						c.(70-72)GGG>TGG		SMT3 suppressor of mif two 3 homolog 2 isoform a							46.0	50.0	49.0					17																	73177235		2202	4295	6497	SO:0001583	missense	6613				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding	g.chr17:73177235C>A		CCDS45773.1, CCDS45774.1	17q25	2013-06-05	2013-06-05	2004-05-19	ENSG00000188612	ENSG00000188612			11125	protein-coding gene	gene with protein product		603042	"""SMT3 (suppressor of mif two 3, yeast) homolog 2"", ""SMT3 suppressor of mif two 3 homolog 2 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)"""	SMT3H2		8630065	Standard	NM_006937		Approved	SMT3B	uc002jne.3	P61956		ENST00000420826.2:c.70G>T	17.37:g.73177235C>A	ENSP00000405965:p.Gly24Trp					SUMO2_uc002jnf.2_Missense_Mutation_p.G24W	p.G24W	NM_006937	NP_008868	P61956	SUMO2_HUMAN			2	239	-	all_lung(278;0.14)|Lung NSC(278;0.168)		24			Ubiquitin-like.			Missense_Mutation	SNP	ENST00000420826.2	37	c.70G>T	CCDS45774.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914805	0.92178	.	.	ENSG00000188612	ENST00000420826;ENST00000314523	T;T	0.34667	1.35;1.35	5.67	5.67	0.87782	Ubiquitin supergroup (1);Small ubiquitin-related modifier, SUMO (1);Ubiquitin (1);	.	.	.	.	T	0.65176	0.2666	.	.	.	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.79108	0.992;0.99	T	0.68447	-0.5406	8	0.87932	D	0	-4.8039	19.7629	0.96329	0.0:1.0:0.0:0.0	.	24;24	F2Z3D0;P61956	.;SUMO2_HUMAN	W	24	ENSP00000405965:G24W;ENSP00000400886:G24W	ENSP00000400886:G24W	G	-	1	0	SUMO2	70688830	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.432000	0.80349	2.666000	0.90696	0.561000	0.74099	GGG		0.383	SUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446614.1	NM_006937		50	26	1	0	4.88482e-21	0.00361	8.65173e-21	50	26				
LLGL2	3993	broad.mit.edu	37	17	73567787	73567787	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:73567787G>T	ENST00000392550.3	+	18	2333	c.2216G>T	c.(2215-2217)gGg>gTg	p.G739V	LLGL2_ENST00000577200.1_Missense_Mutation_p.G739V|LLGL2_ENST00000167462.5_Missense_Mutation_p.G739V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	739					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCACCAATGGGGGCACCATC	0.662																																							uc002joh.2		NA																	0				ovary(2)	2						c.(2215-2217)GGG>GTG		lethal giant larvae homolog 2 isoform c							37.0	35.0	36.0					17																	73567787		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73567787G>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2216G>T	17.37:g.73567787G>T	ENSP00000376333:p.Gly739Val					LLGL2_uc002joi.2_Missense_Mutation_p.G739V|LLGL2_uc010dgg.1_Missense_Mutation_p.G739V|LLGL2_uc002joj.2_Missense_Mutation_p.G728V|LLGL2_uc010wsd.1_Missense_Mutation_p.G366V	p.G739V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		18	2370	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		739			WD 11.		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2216G>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752722	0.49362	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.04862	3.54;3.65	5.4	5.4	0.78164	.	0.047428	0.85682	D	0.000000	T	0.25082	0.0609	M	0.67953	2.075	0.80722	D	1	D;D;D;P;D	0.89917	0.991;1.0;1.0;0.936;0.985	D;D;D;P;P	0.97110	0.948;0.999;1.0;0.674;0.843	T	0.00206	-1.1920	10	0.40728	T	0.16	-5.5715	19.1611	0.93533	0.0:0.0:1.0:0.0	.	366;728;728;739;739	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	V	739;739;728	ENSP00000167462:G739V;ENSP00000376333:G739V	ENSP00000167462:G739V	G	+	2	0	LLGL2	71079382	1.000000	0.71417	0.674000	0.29902	0.963000	0.63663	5.305000	0.65750	2.544000	0.85801	0.549000	0.68633	GGG		0.662	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		48	14	1	0	2.29192e-23	0.00361	4.21121e-23	48	14				
RNF157	114804	broad.mit.edu	37	17	74151371	74151371	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:74151371T>G	ENST00000269391.6	-	16	1858	c.1726A>C	c.(1726-1728)Aac>Cac	p.N576H	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000586661.1_RNA|RNF157_ENST00000319945.6_Intron|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	576							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGCAAAGTTGCTGTCTGGA	0.567																																					GBM(186;507 2120 27388 27773 52994)	GBM(186;507 2120 27388 27773 52994)	uc002jqz.2		NA																	0				ovary(1)	1						c.(1726-1728)AAC>CAC		ring finger protein 157							74.0	73.0	74.0					17																	74151371		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74151371T>G	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1726A>C	17.37:g.74151371T>G	ENSP00000269391:p.Asn576His					RNF157_uc002jra.2_Intron|uc002jrb.1_5'Flank	p.N576H	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		16	1795	-			576					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1726A>C	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370447	0.42003	.	.	ENSG00000141576	ENST00000269391	T	0.26067	1.76	5.07	3.97	0.46021	.	0.418731	0.26019	N	0.026840	T	0.19248	0.0462	L	0.44542	1.39	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.05937	-1.0855	10	0.31617	T	0.26	-1.834	7.2139	0.25949	0.0:0.0797:0.1473:0.773	.	576	Q96PX1	RN157_HUMAN	H	576	ENSP00000269391:N576H	ENSP00000269391:N576H	N	-	1	0	RNF157	71662966	0.987000	0.35691	0.994000	0.49952	0.988000	0.76386	1.556000	0.36288	2.011000	0.59026	0.460000	0.39030	AAC		0.567	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		21	89	0	0	0	0.001882	0	21	89				
ENGASE	64772	broad.mit.edu	37	17	77079562	77079562	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:77079562A>T	ENST00000579016.1	+	9	1142		c.e9-1		ENGASE_ENST00000584568.1_Splice_Site	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase							cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGTCTCTGGCAGGTTCTGGGG	0.612																																							uc002jwv.2		NA																	0				skin(1)	1						c.e9-2		endo-beta-N-acetylglucosaminidase							76.0	85.0	82.0					17																	77079562		2080	4215	6295	SO:0001630	splice_region_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77079562A>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1143-1A>T	17.37:g.77079562A>T						ENGASE_uc002jww.2_Splice_Site_p.K87_splice	p.K381_splice	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			9	1151	+								Q659F0|Q8TB86|Q9H6U4	Splice_Site	SNP	ENST00000579016.1	37	c.1143_splice	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563070	0.45694	.	.	ENSG00000167280	ENST00000545583	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7667	0.69646	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENGASE	74591157	1.000000	0.71417	0.916000	0.36221	0.387000	0.30353	7.523000	0.81856	2.072000	0.62099	0.459000	0.35465	.		0.612	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	Intron	8	25	0	0	0	0.00308	0	8	25				
CCDC40	55036	broad.mit.edu	37	17	78073477	78073477	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:78073477T>C	ENST00000397545.4	+	20	3359	c.3332T>C	c.(3331-3333)cTg>cCg	p.L1111P	GAA_ENST00000302262.3_5'Flank|GAA_ENST00000390015.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1111					axonemal dynein complex assembly (GO:0070286)|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 (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCCACCATCCTGGACCGCGTG	0.642																																							uc010dht.2		NA																	0				ovary(3)	3						c.(3331-3333)CTG>CCG		coiled-coil domain containing 40							43.0	49.0	47.0					17																	78073477		2061	4198	6259	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78073477T>C	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3332T>C	17.37:g.78073477T>C	ENSP00000380679:p.Leu1111Pro					CCDC40_uc002jxm.3_Missense_Mutation_p.L894P|CCDC40_uc002jxn.3_Missense_Mutation_p.L507P|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank	p.L1111P	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		20	3359	+	all_neural(118;0.167)		1111					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.3332T>C	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.275905	0.59649	.	.	ENSG00000141519	ENST00000397545	T	0.55930	0.49	4.76	3.68	0.42216	.	.	.	.	.	T	0.66992	0.2846	M	0.65975	2.015	0.35156	D	0.770217	D;D	0.76494	0.999;0.999	D;D	0.71656	0.968;0.974	T	0.75088	-0.3441	9	0.59425	D	0.04	-18.9788	10.5131	0.44874	0.0:0.0792:0.0:0.9208	.	1111;894	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	P	1111	ENSP00000380679:L1111P	ENSP00000380679:L1111P	L	+	2	0	CCDC40	75688072	0.611000	0.26992	0.017000	0.16124	0.171000	0.22731	5.603000	0.67619	0.920000	0.36970	0.533000	0.62120	CTG		0.642	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		18	53	0	0	0	0.010504	0	18	53				
SLC38A10	124565	broad.mit.edu	37	17	79219442	79219442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:79219442G>A	ENST00000374759.3	-	16	3657	c.3274C>T	c.(3274-3276)Cag>Tag	p.Q1092*		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1092					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCGGAGCTGGGCATCCAGG	0.667																																							uc002jzz.1		NA																	0				pancreas(1)|skin(1)	2						c.(3274-3276)CAG>TAG		solute carrier family 38, member 10 isoform a							24.0	28.0	27.0					17																	79219442		2006	4151	6157	SO:0001587	stop_gained	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219442G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.3274C>T	17.37:g.79219442G>A	ENSP00000363891:p.Gln1092*					SLC38A10_uc002jzy.1_Nonsense_Mutation_p.Q1010*	p.Q1092*	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3649	-	all_neural(118;0.0804)|Melanoma(429;0.242)		1092					Q6ZRC5|Q8NA99|Q96C66	Nonsense_Mutation	SNP	ENST00000374759.3	37	c.3274C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	41	8.765871	0.98945	.	.	ENSG00000157637	ENST00000374759	.	.	.	4.63	4.63	0.57726	.	0.208574	0.22506	U	0.059172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-13.7416	17.2805	0.87127	0.0:0.0:1.0:0.0	.	.	.	.	X	1092	.	ENSP00000363891:Q1092X	Q	-	1	0	SLC38A10	76834037	0.986000	0.35501	0.882000	0.34594	0.014000	0.08584	3.925000	0.56484	2.405000	0.81733	0.655000	0.94253	CAG		0.667	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		15	57	0	0	0	0.003163	0	15	57				
COLEC12	81035	broad.mit.edu	37	18	346949	346949	+	Missense_Mutation	SNP	G	G	A	rs200501360		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:346949G>A	ENST00000400256.3	-	5	880	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	225					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCACAGACCGCTGCAGATTC	0.478																																							uc002kkm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(673-675)CGG>TGG		collectin sub-family member 12		G	TRP/ARG	0,4406		0,0,2203	112.0	109.0	110.0		673	4.1	1.0	18		110	1,8599		0,1,4299	no	missense	COLEC12	NM_130386.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	225/743	346949	1,13005	2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346949G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.673C>T	18.37:g.346949G>A	ENSP00000383115:p.Arg225Trp						p.R225W	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	888	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	225			Potential.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.673C>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581202	0.46006	0.0	1.16E-4	ENSG00000158270	ENST00000400256	D	0.97016	-4.21	6.08	4.1	0.47936	.	0.185233	0.53938	D	0.000048	D	0.94285	0.8164	L	0.29908	0.895	0.41657	D	0.989165	D	0.69078	0.997	P	0.50231	0.635	D	0.94654	0.7842	10	0.87932	D	0	-13.525	12.5365	0.56144	0.0:0.0:0.4412:0.5588	.	225	Q5KU26	COL12_HUMAN	W	225	ENSP00000383115:R225W	ENSP00000383115:R225W	R	-	1	2	COLEC12	336949	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	3.781000	0.55394	1.543000	0.49345	0.655000	0.94253	CGG		0.478	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			29	65	0	0	0	0.009535	0	29	65				
EMILIN2	84034	broad.mit.edu	37	18	2885111	2885111	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:2885111C>T	ENST00000254528.3	+	3	566	c.407C>T	c.(406-408)cCt>cTt	p.P136L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	136					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCGGCTCGGCCTCGAAACAGC	0.507																																							uc002kln.2		NA																	0				skin(2)|ovary(1)	3						c.(406-408)CCT>CTT		elastin microfibril interfacer 2 precursor							64.0	64.0	64.0					18																	2885111		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2885111C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.407C>T	18.37:g.2885111C>T	ENSP00000254528:p.Pro136Leu						p.P136L	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	3	566	+			136					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.407C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268545	0.59540	.	.	ENSG00000132205	ENST00000254528	T	0.42513	0.97	5.83	5.83	0.93111	.	0.078468	0.53938	D	0.000051	T	0.60560	0.2278	M	0.74258	2.255	0.52099	D	0.999948	D	0.71674	0.998	D	0.68765	0.96	T	0.62393	-0.6864	10	0.54805	T	0.06	-16.9607	9.7251	0.40326	0.1508:0.7759:0.0:0.0732	.	136	Q9BXX0	EMIL2_HUMAN	L	136	ENSP00000254528:P136L	ENSP00000254528:P136L	P	+	2	0	EMILIN2	2875111	0.939000	0.31865	0.740000	0.30986	0.893000	0.52053	2.732000	0.47352	2.753000	0.94483	0.650000	0.86243	CCT		0.507	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		13	28	0	0	0	0.00245	0	13	28				
MYOM1	8736	broad.mit.edu	37	18	3126821	3126821	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:3126821G>A	ENST00000356443.4	-	19	3202	c.2869C>T	c.(2869-2871)Cca>Tca	p.P957S	MYOM1_ENST00000261606.7_Missense_Mutation_p.P861S|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Missense_Mutation_p.P957S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	957	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCTTATCTGGTTGCTTCCAT	0.453																																							uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2869-2871)CCA>TCA		myomesin 1 isoform a							89.0	81.0	83.0					18																	3126821		1947	4152	6099	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3126821G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2869C>T	18.37:g.3126821G>A	ENSP00000348821:p.Pro957Ser					MYOM1_uc002klq.2_Missense_Mutation_p.P861S	p.P957S	NM_003803	NP_003794	P52179	MYOM1_HUMAN			19	3203	-			957			Fibronectin type-III 4.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2869C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348841	0.82132	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.62788	-0.0;-0.0;-0.0	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	M	0.86343	2.81	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85104	0.0959	10	0.62326	D	0.03	.	19.3015	0.94145	0.0:0.0:1.0:0.0	.	861;957	P52179-2;P52179	.;MYOM1_HUMAN	S	957;957;861	ENSP00000348821:P957S;ENSP00000383413:P957S;ENSP00000261606:P861S	ENSP00000261606:P861S	P	-	1	0	MYOM1	3116821	1.000000	0.71417	0.971000	0.41717	0.923000	0.55619	9.467000	0.97671	2.559000	0.86315	0.655000	0.94253	CCA		0.453	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		6	13	0	0	0	0.001168	0	6	13				
LRRC30	339291	broad.mit.edu	37	18	7231280	7231280	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:7231280G>T	ENST00000383467.2	+	1	158	c.144G>T	c.(142-144)atG>atT	p.M48I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	48										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGCGGGGCATGCACCACGTCA	0.592																																							uc010wzk.1		NA																	0				ovary(1)|liver(1)	2						c.(142-144)ATG>ATT		leucine rich repeat containing 30							71.0	76.0	74.0					18																	7231280		2005	4172	6177	SO:0001583	missense	339291							g.chr18:7231280G>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.144G>T	18.37:g.7231280G>T	ENSP00000372959:p.Met48Ile						p.M48I	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	144	+			48						Missense_Mutation	SNP	ENST00000383467.2	37	c.144G>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320191	0.41096	.	.	ENSG00000206422	ENST00000383467	T	0.39787	1.06	5.56	4.69	0.59074	.	0.425323	0.30329	N	0.009873	T	0.27967	0.0689	N	0.17082	0.46	0.33076	D	0.535933	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	10	0.36615	T	0.2	.	13.0841	0.59129	0.0745:0.0:0.9255:0.0	.	48	A6NM36	LRC30_HUMAN	I	48	ENSP00000372959:M48I	ENSP00000372959:M48I	M	+	3	0	LRRC30	7221280	0.997000	0.39634	0.988000	0.46212	0.818000	0.46254	2.783000	0.47766	1.499000	0.48617	0.650000	0.86243	ATG		0.592	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		23	31	1	0	1.10923e-09	0.00278	1.4478e-09	23	31				
APCDD1	147495	broad.mit.edu	37	18	10471946	10471946	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:10471946A>G	ENST00000355285.5	+	3	1016	c.662A>G	c.(661-663)cAc>cGc	p.H221R	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TACCTTCACCACAACCTCGAC	0.577																																							uc002kom.3		NA																	0					0						c.(661-663)CAC>CGC		adenomatosis polyposis coli down-regulated 1							115.0	107.0	110.0					18																	10471946		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471946A>G	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.662A>G	18.37:g.10471946A>G	ENSP00000347433:p.His221Arg						p.H221R	NM_153000	NP_694545	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	1016	+			221			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355285.5	37	c.662A>G	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	A	2.419	-0.333474	0.05278	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.17370	2.28	5.08	5.08	0.68730	.	0.089057	0.85682	N	0.000000	T	0.12178	0.0296	N	0.25825	0.765	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.08534	-1.0717	10	0.10111	T	0.7	-48.2626	14.8308	0.70146	1.0:0.0:0.0:0.0	.	221	Q8J025	APCD1_HUMAN	R	221;272	ENSP00000347433:H221R	ENSP00000347433:H221R	H	+	2	0	APCDD1	10461946	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	5.602000	0.67612	1.912000	0.55364	0.533000	0.62120	CAC		0.577	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		45	61	0	0	0	0.003214	0	45	61				
POTEC	388468	broad.mit.edu	37	18	14537921	14537921	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:14537921G>T	ENST00000358970.5	-	3	688	c.689C>A	c.(688-690)gCt>gAt	p.A230D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	230										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATTTTGATCAGCGCCATGTTC	0.383																																							uc010dln.2		NA																	0				skin(3)	3						c.(688-690)GCT>GAT		ANKRD26-like family B, member 2							462.0	356.0	388.0					18																	14537921		692	1591	2283	SO:0001583	missense	388468							g.chr18:14537921G>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.689C>A	18.37:g.14537921G>T	ENSP00000351856:p.Ala230Asp					POTEC_uc010xaj.1_RNA	p.A230D	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			3	1143	-			230			ANK 3.			Missense_Mutation	SNP	ENST00000358970.5	37	c.689C>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579523	0.28180	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.62232	0.04	1.4	1.4	0.22301	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.61887	0.2383	M	0.86805	2.84	0.36186	D	0.849733	P	0.36354	0.549	B	0.35182	0.197	T	0.70861	-0.4757	9	0.87932	D	0	.	6.2663	0.20928	0.0:0.0:1.0:0.0	.	230	B2RU33	POTEC_HUMAN	D	230	ENSP00000351856:A230D	ENSP00000351856:A230D	A	-	2	0	POTEC	14527921	1.000000	0.71417	0.011000	0.14972	0.014000	0.08584	5.725000	0.68507	1.086000	0.41228	0.194000	0.17425	GCT		0.383	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		34	48	1	0	2.09667e-21	0.003755	3.73674e-21	34	48				
ROCK1	6093	broad.mit.edu	37	18	18539817	18539817	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:18539817T>C	ENST00000399799.2	-	29	4436	c.3496A>G	c.(3496-3498)Atg>Gtg	p.M1166V		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1166	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)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCAATACCATAGATGGATTG	0.299																																							uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(3496-3498)ATG>GTG		Rho-associated, coiled-coil containing protein							60.0	56.0	57.0					18																	18539817		2202	4297	6499	SO:0001583	missense	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.chr18:18539817T>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.3496A>G	18.37:g.18539817T>C	ENSP00000382697:p.Met1166Val						p.M1166V	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			29	4437	-	Melanoma(1;0.165)		1166			PH.|Auto-inhibitory.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.3496A>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386609	0.82902	.	.	ENSG00000067900	ENST00000399799	T	0.76968	-1.06	5.23	5.23	0.72850	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	N	0.25031	0.7	0.80722	D	1	P	0.46859	0.885	P	0.52031	0.688	T	0.73186	-0.4062	10	0.28530	T	0.3	.	15.4092	0.74905	0.0:0.0:0.0:1.0	.	1166	Q13464	ROCK1_HUMAN	V	1166	ENSP00000382697:M1166V	ENSP00000382697:M1166V	M	-	1	0	ROCK1	16793815	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.994000	0.88315	2.093000	0.63338	0.477000	0.44152	ATG		0.299	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		4	6	0	0	0	0.009096	0	4	6				
MIB1	57534	broad.mit.edu	37	18	19348713	19348713	+	Splice_Site	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:19348713G>A	ENST00000261537.6	+	3	795	c.531G>A	c.(529-531)aaG>aaA	p.K177K	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	177	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GTAGGGGAAAGGTACAGTGTT	0.403																																							uc002ktq.2		NA																	0				ovary(4)	4						c.(529-531)AAG>AAA		mindbomb homolog 1							82.0	80.0	81.0					18																	19348713		2203	4300	6503	SO:0001630	splice_region_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19348713G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.531+1G>A	18.37:g.19348713G>A						MIB1_uc002ktp.2_5'UTR	p.K177K	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		3	531	+			177			MIB/HERC2 2.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	c.531G>A	CCDS11871.1																																																																																				0.403	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	Silent	5	10	0	0	0	0.00308	0	5	10				
CABLES1	91768	broad.mit.edu	37	18	20716526	20716526	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:20716526G>T	ENST00000256925.7	+	1	800	c.800G>T	c.(799-801)gGc>gTc	p.G267V	CABLES1_ENST00000400473.2_Intron|AC105247.1_ENST00000411067.1_RNA	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	267	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGCAGCCAGGCCAGGGCGGC	0.682																																							uc002kuc.2		NA																	0				breast(1)	1						c.(799-801)GGC>GTC		Cdk5 and Abl enzyme substrate 1 isoform 2							15.0	18.0	17.0					18																	20716526		1971	4080	6051	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716526G>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.800G>T	18.37:g.20716526G>T	ENSP00000256925:p.Gly267Val					CABLES1_uc002kub.2_Intron	p.G267V	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			1	800	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		267			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.800G>T	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943144	0.53079	.	.	ENSG00000134508	ENST00000256925	T	0.55930	0.49	3.88	2.99	0.34606	.	0.362863	0.28595	N	0.014785	T	0.40196	0.1107	L	0.29908	0.895	0.80722	D	1	P	0.37997	0.614	B	0.37550	0.253	T	0.40156	-0.9578	10	0.72032	D	0.01	-0.1491	10.9727	0.47448	0.0:0.1906:0.8094:0.0	.	267	Q8TDN4	CABL1_HUMAN	V	267	ENSP00000256925:G267V	ENSP00000256925:G267V	G	+	2	0	CABLES1	18970524	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	2.903000	0.48711	0.951000	0.37770	0.462000	0.41574	GGC		0.682	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		12	11	1	0	6.72482e-11	0.003163	9.22558e-11	12	11				
ZNF521	25925	broad.mit.edu	37	18	22805247	22805247	+	Missense_Mutation	SNP	C	C	G	rs201246445		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:22805247C>G	ENST00000361524.3	-	4	2783	c.2635G>C	c.(2635-2637)Gtt>Ctt	p.V879L	ZNF521_ENST00000584787.1_Missense_Mutation_p.V659L|ZNF521_ENST00000538137.2_Missense_Mutation_p.V879L|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	879					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGGTGTCAACGTCTTCTTCG	0.537			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(2635-2637)GTT>CTT		zinc finger protein 521							158.0	145.0	149.0					18																	22805247		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805247C>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2635G>C	18.37:g.22805247C>G	ENSP00000354794:p.Val879Leu					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.V879L|ZNF521_uc002kvl.2_Missense_Mutation_p.V659L	p.V879L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2882	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		879					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2635G>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376885	0.24857	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08546	3.1;3.08	5.83	5.83	0.93111	.	0.064020	0.64402	D	0.000007	T	0.10637	0.0260	L	0.38649	1.16	0.38803	D	0.955232	B	0.06786	0.001	B	0.13407	0.009	T	0.12656	-1.0539	10	0.42905	T	0.14	-24.718	20.1184	0.97949	0.0:1.0:0.0:0.0	.	879	Q96K83	ZN521_HUMAN	L	879;913;879	ENSP00000354794:V879L;ENSP00000382352:V879L	ENSP00000354794:V879L	V	-	1	0	ZNF521	21059245	1.000000	0.71417	0.764000	0.31436	0.793000	0.44817	4.615000	0.61190	2.769000	0.95229	0.655000	0.94253	GTT		0.537	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		32	15	0	0	0	0.009535	0	32	15				
ZNF521	25925	broad.mit.edu	37	18	22805797	22805797	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:22805797G>A	ENST00000361524.3	-	4	2233	c.2085C>T	c.(2083-2085)atC>atT	p.I695I	ZNF521_ENST00000584787.1_Silent_p.I475I|ZNF521_ENST00000538137.2_Silent_p.I695I|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	695					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AACTCTCACAGATGTAATACG	0.453			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(2083-2085)ATC>ATT		zinc finger protein 521							154.0	145.0	148.0					18																	22805797		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805797G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2085C>T	18.37:g.22805797G>A						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.I695I|ZNF521_uc002kvl.2_Silent_p.I475I	p.I695I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2332	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		695			C2H2-type 16.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.2085C>T	CCDS32806.1																																																																																				0.453	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		16	42	0	0	0	0.006122	0	16	42				
DSG3	1830	broad.mit.edu	37	18	29056037	29056037	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:29056037G>T	ENST00000257189.4	+	16	2897	c.2814G>T	c.(2812-2814)tcG>tcT	p.S938S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	938					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGACTTACTCGGCTTCTGGTT	0.502																																							uc002kws.2		NA																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2812-2814)TCG>TCT		desmoglein 3 preproprotein							162.0	146.0	152.0					18																	29056037		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29056037G>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2814G>T	18.37:g.29056037G>T						DSG3_uc002kwt.2_Silent_p.S220S	p.S938S	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2923	+			938			Cytoplasmic (Potential).|Desmoglein repeat 2.		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.2814G>T	CCDS11898.1																																																																																				0.502	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		23	18	1	0	7.87624e-14	0.00278	1.17689e-13	23	18				
TRAPPC8	22878	broad.mit.edu	37	18	29446844	29446844	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:29446844T>A	ENST00000283351.4	-	18	2893	c.2558A>T	c.(2557-2559)gAt>gTt	p.D853V	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D799V	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	853					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACCAATGCCATCTACTGTCAT	0.418																																							uc002kxc.3		NA																	0					0						c.(2557-2559)GAT>GTT		hypothetical protein LOC22878							154.0	148.0	150.0					18																	29446844		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29446844T>A	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2558A>T	18.37:g.29446844T>A	ENSP00000283351:p.Asp853Val					KIAA1012_uc002kxb.3_Missense_Mutation_p.D799V|KIAA1012_uc002kxd.3_RNA	p.D853V	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			18	2922	-			853					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.2558A>T	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160328	0.38119	.	.	ENSG00000153339	ENST00000283351	T	0.08984	3.03	5.65	5.65	0.86999	.	0.477684	0.24823	N	0.035319	T	0.13970	0.0338	M	0.74258	2.255	0.80722	D	1	B	0.24533	0.105	B	0.13407	0.009	T	0.01326	-1.1384	10	0.42905	T	0.14	.	15.8807	0.79201	0.0:0.0:0.0:1.0	.	853	Q9Y2L5	TPPC8_HUMAN	V	853	ENSP00000283351:D853V	ENSP00000283351:D853V	D	-	2	0	TRAPPC8	27700842	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.783000	0.68982	2.165000	0.68154	0.383000	0.25322	GAT		0.418	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		23	32	0	0	0	0.004656	0	23	32				
KLHL14	57565	broad.mit.edu	37	18	30260411	30260411	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:30260411G>T	ENST00000359358.4	-	6	1828	c.1390C>A	c.(1390-1392)Cat>Aat	p.H464N		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	464						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCTCCCGCATGAGCCGCCAGA	0.463																																							uc002kxm.1		NA																	0				ovary(1)	1						c.(1390-1392)CAT>AAT		kelch-like 14							126.0	124.0	125.0					18																	30260411		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260411G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1390C>A	18.37:g.30260411G>T	ENSP00000352314:p.His464Asn					KLHL14_uc010dmd.1_Silent_p.L11L	p.H464N	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			6	1778	-			464			Kelch 3.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1390C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036682	0.75617	.	.	ENSG00000197705	ENST00000359358	T	0.70986	-0.53	5.97	5.97	0.96955	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.90140	0.6919	H	0.97103	3.94	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	D	0.91773	0.5429	10	0.59425	D	0.04	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	464	Q9P2G3	KLH14_HUMAN	N	464	ENSP00000352314:H464N	ENSP00000352314:H464N	H	-	1	0	KLHL14	28514409	1.000000	0.71417	0.993000	0.49108	0.730000	0.41778	9.476000	0.97823	2.836000	0.97738	0.655000	0.94253	CAT		0.463	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			19	60	1	0	3.32936e-07	0.006122	4.00085e-07	19	60				
ASXL3	80816	broad.mit.edu	37	18	31319839	31319839	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:31319839C>G	ENST00000269197.5	+	11	2471	c.2471C>G	c.(2470-2472)cCg>cGg	p.P824R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	824					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGCATTTCCGTCTGAAGAT	0.448																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(2470-2472)CCG>CGG		additional sex combs like 3							58.0	57.0	57.0					18																	31319839		1903	4118	6021	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319839C>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2471C>G	18.37:g.31319839C>G	ENSP00000269197:p.Pro824Arg					ASXL3_uc002kxq.2_Missense_Mutation_p.P531R	p.P824R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	2526	+			824					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2471C>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	5.747	0.322174	0.10900	.	.	ENSG00000141431	ENST00000269197	T	0.13778	2.56	6.04	5.17	0.71159	.	1.464930	0.04036	N	0.302386	T	0.13457	0.0326	N	0.24115	0.695	0.09310	N	1	P	0.39847	0.691	B	0.38428	0.273	T	0.18840	-1.0324	10	0.38643	T	0.18	.	12.133	0.53955	0.0:0.8669:0.0:0.1331	.	824	Q9C0F0	ASXL3_HUMAN	R	824	ENSP00000269197:P824R	ENSP00000269197:P824R	P	+	2	0	ASXL3	29573837	0.022000	0.18835	0.940000	0.37924	0.222000	0.24845	1.268000	0.33062	2.873000	0.98535	0.563000	0.77884	CCG		0.448	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			10	9	0	0	0	0.006214	0	10	9				
SETBP1	26040	broad.mit.edu	37	18	42530401	42530401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:42530401G>T	ENST00000282030.5	+	4	1392	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	366						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E366K(2)|p.E312K(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGACAATACAGAAGGGAAAAG	0.453									Schinzel-Giedion syndrome																														uc010dni.2		NA																	4	Substitution - Missense(4)		urinary_tract(2)|prostate(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1096-1098)GAA>TAA		SET binding protein 1 isoform a							66.0	66.0	66.0					18																	42530401		2203	4300	6503	SO:0001587	stop_gained	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530401G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1096G>T	18.37:g.42530401G>T	ENSP00000282030:p.Glu366*						p.E366*	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1392	+			366					A6H8W5|Q6P6C3|Q9UEF3	Nonsense_Mutation	SNP	ENST00000282030.5	37	c.1096G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	38	7.075039	0.98044	.	.	ENSG00000152217	ENST00000282030	.	.	.	5.78	5.78	0.91487	.	0.051457	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	.	.	.	X	366	.	ENSP00000282030:E366X	E	+	1	0	SETBP1	40784399	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	5.871000	0.69628	2.894000	0.99253	0.655000	0.94253	GAA		0.453	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		20	19	1	0	0.000958276	0.007413	0.00101835	20	19				
SETBP1	26040	broad.mit.edu	37	18	42532845	42532845	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:42532845C>A	ENST00000282030.5	+	4	3836	c.3540C>A	c.(3538-3540)ggC>ggA	p.G1180G		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1180						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G1126G(3)|p.G1180G(3)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCCACAGGCTTCTCCAGCC	0.522									Schinzel-Giedion syndrome																														uc010dni.2		NA																	6	Substitution - coding silent(6)		prostate(4)|kidney(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(3538-3540)GGC>GGA		SET binding protein 1 isoform a							60.0	68.0	65.0					18																	42532845		2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532845C>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3540C>A	18.37:g.42532845C>A							p.G1180G	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3836	+			1180					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.3540C>A	CCDS11923.2																																																																																				0.522	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		7	52	1	0	0.00307968	0.00308	0.00324849	7	52				
DCC	1630	broad.mit.edu	37	18	50832076	50832076	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:50832076G>T	ENST00000442544.2	+	13	2656	c.2040G>T	c.(2038-2040)tgG>tgT	p.W680C	DCC_ENST00000412726.1_Missense_Mutation_p.W528C|DCC_ENST00000581580.1_Missense_Mutation_p.W335C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	680	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAACCTCTGGTACCTATTCA	0.408																																							uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(2038-2040)TGG>TGT		netrin receptor DCC precursor							95.0	100.0	99.0					18																	50832076		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50832076G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2040G>T	18.37:g.50832076G>T	ENSP00000389140:p.Trp680Cys					DCC_uc010xdr.1_Missense_Mutation_p.W528C|DCC_uc010dpf.1_Missense_Mutation_p.W335C	p.W680C	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	13	2627	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	680			Extracellular (Potential).|Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2040G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283456	0.40394	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56776	0.44;0.44	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48519	0.1504	L	0.35341	1.055	0.80722	D	1	B;B;B	0.20368	0.002;0.002;0.044	B;B;B	0.29785	0.025;0.025;0.107	T	0.35425	-0.9789	10	0.38643	T	0.18	.	18.7178	0.91682	0.0:0.0:1.0:0.0	.	528;528;680	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	C	680;613;528	ENSP00000389140:W680C;ENSP00000397322:W528C	ENSP00000304146:W613C	W	+	3	0	DCC	49086074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.267000	0.95665	2.774000	0.95407	0.655000	0.94253	TGG		0.408	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		21	46	1	0	8.04996e-18	0.001882	1.34072e-17	21	46				
DCC	1630	broad.mit.edu	37	18	51025781	51025781	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:51025781C>A	ENST00000442544.2	+	27	4628	c.4012C>A	c.(4012-4014)Cca>Aca	p.P1338T	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P971T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1338					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGTGTTCGACCAACTCACCC	0.532																																							uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(4012-4014)CCA>ACA		netrin receptor DCC precursor							239.0	183.0	202.0					18																	51025781		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51025781C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4012C>A	18.37:g.51025781C>A	ENSP00000389140:p.Pro1338Thr					DCC_uc010dpf.1_Missense_Mutation_p.P971T	p.P1338T	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	27	4599	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1338			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.4012C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492629	0.44352	.	.	ENSG00000187323	ENST00000442544	T	0.55052	0.54	6.17	6.17	0.99709	Neogenin, C-terminal (1);	0.067809	0.64402	D	0.000020	T	0.72684	0.3491	M	0.69823	2.125	0.54753	D	0.999985	D	0.76494	0.999	D	0.78314	0.991	T	0.66945	-0.5795	10	0.33940	T	0.23	-7.3478	19.6509	0.95805	0.0:1.0:0.0:0.0	.	1338	P43146	DCC_HUMAN	T	1338	ENSP00000389140:P1338T	ENSP00000389140:P1338T	P	+	1	0	DCC	49279779	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.259000	0.72494	2.941000	0.99782	0.655000	0.94253	CCA		0.532	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		33	35	1	0	7.11191e-15	0.002836	1.08546e-14	33	35				
WDR7	23335	broad.mit.edu	37	18	54444048	54444048	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:54444048G>T	ENST00000254442.3	+	17	3095	c.2884G>T	c.(2884-2886)Gat>Tat	p.D962Y	WDR7_ENST00000357574.3_Intron|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	962					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTCTGATGCTGATCACTCTGG	0.428																																							uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(2884-2886)GAT>TAT		rabconnectin-3 beta isoform 1							298.0	272.0	280.0					18																	54444048		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54444048G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2884G>T	18.37:g.54444048G>T	ENSP00000254442:p.Asp962Tyr					WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Intron	p.D962Y	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	17	3095	+			962					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.2884G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655590	0.47467	.	.	ENSG00000091157	ENST00000254442;ENST00000444065	T	0.67523	-0.27	5.81	5.81	0.92471	.	0.405040	0.29940	N	0.010802	T	0.56514	0.1990	L	0.29908	0.895	0.35720	D	0.817079	P	0.38922	0.651	B	0.37943	0.261	T	0.58758	-0.7580	10	0.12103	T	0.63	.	19.6706	0.95910	0.0:0.0:1.0:0.0	.	962	Q9Y4E6	WDR7_HUMAN	Y	962;287	ENSP00000254442:D962Y	ENSP00000254442:D962Y	D	+	1	0	WDR7	52595046	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.976000	0.76135	2.749000	0.94314	0.460000	0.39030	GAT		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			23	111	1	0	7.33532e-06	0.003954	8.44422e-06	23	111				
ALPK2	115701	broad.mit.edu	37	18	56247141	56247141	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:56247141G>T	ENST00000361673.3	-	4	1080	c.867C>A	c.(865-867)gcC>gcA	p.A289A	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	289						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTTGGCCACGGCACTGTCAC	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(865-867)GCC>GCA		heart alpha-kinase							89.0	85.0	86.0					18																	56247141		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247141G>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.867C>A	18.37:g.56247141G>T			OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.A289A	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1081	-			289					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.867C>A	CCDS11966.2																																																																																				0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		11	33	1	0	1.58986e-06	0.008291	1.87881e-06	11	33				
SERPINB7	8710	broad.mit.edu	37	18	61459672	61459672	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:61459672A>G	ENST00000398019.2	+	3	539	c.214A>G	c.(214-216)Agt>Ggt	p.S72G	SERPINB7_ENST00000336429.2_Missense_Mutation_p.S72G|SERPINB7_ENST00000546027.1_Missense_Mutation_p.S72G|SERPINB7_ENST00000540675.1_Intron	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	72					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CTCTTCTAATAGTCAGGTAAA	0.438																																							uc002ljl.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(214-216)AGT>GGT		serine (or cysteine) proteinase inhibitor, clade							122.0	105.0	111.0					18																	61459672		2202	4300	6502	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61459672A>G	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.214A>G	18.37:g.61459672A>G	ENSP00000381101:p.Ser72Gly					SERPINB7_uc002ljm.2_Missense_Mutation_p.S72G|SERPINB7_uc010xet.1_Intron|SERPINB7_uc010dqg.2_Missense_Mutation_p.S72G	p.S72G	NM_001040147	NP_001035237	O75635	SPB7_HUMAN			3	310	+		Esophageal squamous(42;0.129)	72					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.214A>G	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000426	0.35320	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000447428;ENST00000546027;ENST00000431370	D;T;T;D;T;D	0.88509	-2.39;2.71;2.71;-1.74;2.71;-2.39	4.94	-2.62	0.06152	Serpin domain (3);	72.991600	0.00166	N	0.000008	T	0.80093	0.4560	L	0.28344	0.845	0.09310	N	1	B	0.22604	0.072	B	0.29077	0.098	T	0.63256	-0.6678	10	0.31617	T	0.26	.	0.2296	0.00178	0.3806:0.1513:0.1746:0.2935	.	72	O75635	SPB7_HUMAN	G	72	ENSP00000397301:S72G;ENSP00000337212:S72G;ENSP00000381101:S72G;ENSP00000402362:S72G;ENSP00000444861:S72G;ENSP00000393947:S72G	ENSP00000337212:S72G	S	+	1	0	SERPINB7	59610652	0.000000	0.05858	0.001000	0.08648	0.377000	0.30045	-0.429000	0.06982	-0.157000	0.11059	-0.313000	0.08912	AGT		0.438	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		23	13	0	0	0	0.00278	0	23	13				
NETO1	81832	broad.mit.edu	37	18	70526112	70526112	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:70526112C>T	ENST00000327305.6	-	4	1075	c.418G>A	c.(418-420)Gat>Aat	p.D140N	NETO1_ENST00000299430.2_Missense_Mutation_p.D139N|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.D139N|NETO1_ENST00000583169.1_Missense_Mutation_p.D140N	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	140	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.			D -> A (in Ref. 3; AAH50329). {ECO:0000305}.	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)				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)		AGCTCTCCATCAGCAAAAAAT	0.338																																							uc002lkw.2		NA																	0				ovary(2)|skin(2)	4						c.(418-420)GAT>AAT		neuropilin- and tolloid-like protein 1 isoform 3							62.0	66.0	65.0					18																	70526112		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.chr18:70526112C>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.418G>A	18.37:g.70526112C>T	ENSP00000313088:p.Asp140Asn					NETO1_uc002lkx.1_Missense_Mutation_p.D139N|NETO1_uc002lky.1_Missense_Mutation_p.D140N|NETO1_uc002lkz.2_Missense_Mutation_p.D139N	p.D140N	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	702	-		Esophageal squamous(42;0.129)	140	D -> A (in Ref. 3; AAH50329).		CUB 1.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.418G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285368	0.95517	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.46451	0.87;0.87;1.11	4.88	4.88	0.63580	CUB (5);	0.000000	0.64402	D	0.000016	T	0.68851	0.3046	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	0.996;0.993;1.0	T	0.74861	-0.3520	10	0.87932	D	0	-20.5105	18.4164	0.90571	0.0:1.0:0.0:0.0	.	139;139;140	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	N	140;139;139	ENSP00000313088:D140N;ENSP00000299430:D139N;ENSP00000381024:D139N	ENSP00000299430:D139N	D	-	1	0	NETO1	68677092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.724000	0.84798	2.416000	0.81992	0.655000	0.94253	GAT		0.338	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		34	17	0	0	0	0.002836	0	34	17				
GALR1	2587	broad.mit.edu	37	18	74962774	74962774	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:74962774C>A	ENST00000299727.3	+	1	270	c.270C>A	c.(268-270)ccC>ccA	p.P90P		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	90					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TCTGCATCCCCTTCCAGGCCA	0.622																																							uc002lms.3		NA																	0				lung(1)	1						c.(268-270)CCC>CCA		galanin receptor 1							128.0	113.0	118.0					18																	74962774		2203	4300	6503	SO:0001819	synonymous_variant	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962774C>A	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.270C>A	18.37:g.74962774C>A							p.P90P	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	767	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	90			Helical; Name=2; (Potential).		Q4VBL7	Silent	SNP	ENST00000299727.3	37	c.270C>A	CCDS12012.1																																																																																				0.622	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			14	74	1	0	0.000422831	0.004007	0.000455111	14	74				
CTDP1	9150	broad.mit.edu	37	18	77489060	77489060	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr18:77489060G>T	ENST00000299543.7	+	11	2718	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	CTDP1_ENST00000075430.7_Intron	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	857					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TAGAGAGTATGGACAAAGAGG	0.607																																							uc002lnh.1		NA																	0					0						c.(2569-2571)ATG>ATT		CTD (carboxy-terminal domain, RNA polymerase II,							147.0	153.0	151.0					18																	77489060		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77489060G>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2571G>T	18.37:g.77489060G>T	ENSP00000299543:p.Met857Ile					CTDP1_uc002lni.1_Intron|CTDP1_uc010drd.1_Missense_Mutation_p.M857I	p.M857I	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	11	2718	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	857					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.2571G>T	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	g	26.0	4.692325	0.88735	.	.	ENSG00000060069	ENST00000299543	T	0.53423	0.62	5.32	5.32	0.75619	FCP1-like phosphatase, C-terminal (1);	0.041994	0.85682	D	0.000000	T	0.68412	0.2998	M	0.66939	2.045	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.986;0.994	T	0.69602	-0.5101	10	0.54805	T	0.06	-44.9901	18.986	0.92769	0.0:0.0:1.0:0.0	.	738;857	Q9Y5B0-3;Q9Y5B0	.;CTDP1_HUMAN	I	857	ENSP00000299543:M857I	ENSP00000299543:M857I	M	+	3	0	CTDP1	75590048	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.385000	0.90163	2.487000	0.83934	0.651000	0.88453	ATG		0.607	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		26	169	1	0	8.24728e-16	0.004656	1.30346e-15	26	169				
APC2	10297	broad.mit.edu	37	19	1462038	1462038	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:1462038G>A	ENST00000535453.1	+	13	3428	c.1715G>A	c.(1714-1716)tGc>tAc	p.C572Y	APC2_ENST00000238483.4_Missense_Mutation_p.C298Y|APC2_ENST00000233607.2_Missense_Mutation_p.C572Y|CTB-25B13.12_ENST00000588225.1_RNA|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GCGGCCATCTGCCAGGTGGAT	0.652																																							uc002lsr.1		NA																	0				breast(3)|pancreas(1)	4						c.(1714-1716)TGC>TAC		adenomatosis polyposis coli 2							62.0	52.0	56.0					19																	1462038		2203	4300	6503	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1462038G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1715G>A	19.37:g.1462038G>A	ENSP00000442954:p.Cys572Tyr					APC2_uc002lss.1_Missense_Mutation_p.C154Y|APC2_uc002lst.1_Missense_Mutation_p.C572Y|APC2_uc002lsu.1_Missense_Mutation_p.C571Y|C19orf25_uc010xgn.1_Intron	p.C572Y	NM_005883	NP_005874	O95996	APC2_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)	14	1923	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	572			ARM 4.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.1715G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426915	0.83667	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;T;D	0.93859	-3.3;0.82;-3.3	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97502	1.0061	10	0.87932	D	0	-38.9599	15.9544	0.79871	0.0:0.0:1.0:0.0	.	571;572	O95996-3;O95996	.;APC2_HUMAN	Y	572;298;572	ENSP00000233607:C572Y;ENSP00000238483:C298Y;ENSP00000442954:C572Y	ENSP00000233607:C572Y	C	+	2	0	APC2	1413038	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.270000	0.95690	2.093000	0.63338	0.561000	0.74099	TGC		0.652	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		14	2	0	0	0	0.004007	0	14	2				
EBI3	10148	broad.mit.edu	37	19	4233293	4233293	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:4233293C>A	ENST00000221847.5	+	3	421	c.368C>A	c.(367-369)aCa>aAa	p.T123K		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	123	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTTCATAACAGAGCACATC	0.657																																							uc002lzu.2		NA																	0					0						c.(367-369)ACA>AAA		Epstein-Barr virus induced 3 precursor							35.0	27.0	29.0					19																	4233293		2203	4299	6502	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4233293C>A	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.368C>A	19.37:g.4233293C>A	ENSP00000221847:p.Thr123Lys						p.T123K	NM_005755	NP_005746	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	3	376	+		Hepatocellular(1079;0.137)	123			Fibronectin type-III 1.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.368C>A	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	c	5.538	0.284121	0.10513	.	.	ENSG00000105246	ENST00000221847	T	0.55234	0.53	4.49	2.35	0.29111	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.729173	0.12977	N	0.423651	T	0.29223	0.0727	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16276	-1.0408	10	0.48119	T	0.1	-2.2358	6.3794	0.21525	0.0:0.7754:0.0:0.2246	.	123	Q14213	IL27B_HUMAN	K	123	ENSP00000221847:T123K	ENSP00000221847:T123K	T	+	2	0	EBI3	4184293	0.001000	0.12720	0.002000	0.10522	0.160000	0.22226	0.693000	0.25497	0.913000	0.36797	-0.495000	0.04643	ACA		0.657	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			9	2	1	0	1.76689e-08	0.006214	2.21484e-08	9	2				
VAV1	7409	broad.mit.edu	37	19	6821692	6821692	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:6821692G>T	ENST00000602142.1	+	3	462		c.e3+1		VAV1_ENST00000596764.1_Splice_Site|VAV1_ENST00000304076.2_Splice_Site|VAV1_ENST00000539284.1_Splice_Site|VAV1_ENST00000599806.1_Splice_Site	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGGGGATCATGTGAGTAACCA	0.637																																							uc002mfu.1		NA																	0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.e3+1		vav 1 guanine nucleotide exchange factor							77.0	67.0	71.0					19																	6821692		2203	4300	6503	SO:0001630	splice_region_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6821692G>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.380+1G>T	19.37:g.6821692G>T						VAV1_uc010xjh.1_Splice_Site_p.M127_splice|VAV1_uc010dva.1_Splice_Site_p.M127_splice|VAV1_uc002mfv.1_Splice_Site_p.M72_splice	p.M127_splice	NM_005428	NP_005419	P15498	VAV_HUMAN			3	477	+								B4DVK9|M0QXX6|Q15860	Splice_Site	SNP	ENST00000602142.1	37	c.380_splice	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940393	0.73557	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.377	0.66884	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VAV1	6772692	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.854000	0.75440	2.256000	0.74724	0.561000	0.74099	.		0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		Intron	22	8	1	0	3.8784e-16	0.001882	6.14332e-16	22	8				
CLEC4G	339390	broad.mit.edu	37	19	7794773	7794773	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:7794773C>A	ENST00000328853.5	-	8	745	c.677G>T	c.(676-678)aGg>aTg	p.R226M	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	226	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCGCACAGCCCTCAGGCCCAG	0.647																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	Esophageal Squamous(146;540 1807 3349 19438 30853)	uc002mhp.3		NA																	0					0						c.(676-678)AGG>ATG		C-type lectin domain family 4, member G							57.0	54.0	55.0					19																	7794773		2203	4300	6503	SO:0001583	missense	339390					integral to membrane	protein binding|sugar binding	g.chr19:7794773C>A	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.677G>T	19.37:g.7794773C>A	ENSP00000327599:p.Arg226Met						p.R226M	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN			8	746	-			226			Extracellular (Potential).|C-type lectin.			Missense_Mutation	SNP	ENST00000328853.5	37	c.677G>T	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604554	0.87157	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.18502	2.21	5.53	1.82	0.25136	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.194407	0.23380	N	0.048807	T	0.35566	0.0936	M	0.81614	2.55	0.09310	N	0.999998	D	0.76494	0.999	D	0.66716	0.946	T	0.05451	-1.0884	10	0.72032	D	0.01	.	6.0643	0.19854	0.0:0.6529:0.2064:0.1406	.	226	Q6UXB4	CLC4G_HUMAN	M	226;110	ENSP00000327599:R226M	ENSP00000327599:R226M	R	-	2	0	CLEC4G	7700773	0.000000	0.05858	0.832000	0.32986	0.828000	0.46876	0.254000	0.18314	0.805000	0.34159	0.563000	0.77884	AGG		0.647	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		20	5	1	0	3.8784e-16	0.001882	6.14332e-16	20	5				
MUC16	94025	broad.mit.edu	37	19	9066733	9066733	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:9066733G>T	ENST00000397910.4	-	3	20916	c.20713C>A	c.(20713-20715)Cta>Ata	p.L6905I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6907	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)				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						GAGTCAGCTAGGACAGAGGAT	0.493																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20713-20715)CTA>ATA		mucin 16							282.0	267.0	272.0					19																	9066733		2115	4226	6341	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066733G>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.20713C>A	19.37:g.9066733G>T	ENSP00000381008:p.Leu6905Ile						p.L6905I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20917	-			6907			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20713C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.357	0.433903	0.12045	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	2.53	2.53	0.30540	.	.	.	.	.	T	0.16854	0.0405	L	0.36672	1.1	.	.	.	P	0.38148	0.62	B	0.37304	0.246	T	0.20174	-1.0283	8	0.87932	D	0	.	8.654	0.34051	0.0:0.0:1.0:0.0	.	6905	B5ME49	.	I	6905	ENSP00000381008:L6905I	ENSP00000381008:L6905I	L	-	1	2	MUC16	8927733	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-0.347000	0.07750	1.714000	0.51371	0.407000	0.27541	CTA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		81	24	1	0	1.04643e-32	0.00361	2.10468e-32	81	24				
MUC16	94025	broad.mit.edu	37	19	9085554	9085554	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:9085554C>T	ENST00000397910.4	-	1	6464	c.6261G>A	c.(6259-6261)acG>acA	p.T2087T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2087	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)				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						GAAATTCAGTCGTAGTTGAAC	0.478																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6259-6261)ACG>ACA		mucin 16							168.0	162.0	164.0					19																	9085554		1911	4128	6039	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085554C>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.6261G>A	19.37:g.9085554C>T							p.T2087T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6465	-			2087			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.6261G>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		74	21	0	0	0	0.00361	0	74	21				
MUC16	94025	broad.mit.edu	37	19	9089641	9089641	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:9089641G>A	ENST00000397910.4	-	1	2377	c.2174C>T	c.(2173-2175)cCt>cTt	p.P725L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	725	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)				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						TGACAACAGAGGAATGCTGGT	0.493																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2173-2175)CCT>CTT		mucin 16							124.0	124.0	124.0					19																	9089641		2112	4235	6347	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089641G>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.2174C>T	19.37:g.9089641G>A	ENSP00000381008:p.Pro725Leu						p.P725L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2378	-			725			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2174C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.474	0.647254	0.14516	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	1.56	1.56	0.23342	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	.	.	.	D	0.65815	0.995	P	0.48921	0.595	T	0.41215	-0.9521	8	0.87932	D	0	.	6.5643	0.22503	0.0:0.0:1.0:0.0	.	725	B5ME49	.	L	725	ENSP00000381008:P725L	ENSP00000381008:P725L	P	-	2	0	MUC16	8950641	0.101000	0.21875	0.002000	0.10522	0.414000	0.31173	2.292000	0.43549	1.175000	0.42826	0.205000	0.17691	CCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	7	0	0	0	0.003755	0	35	7				
MUC16	94025	broad.mit.edu	37	19	9090222	9090222	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:9090222G>T	ENST00000397910.4	-	1	1796	c.1593C>A	c.(1591-1593)ccC>ccA	p.P531P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	531	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)				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						GTGTGTGCTGGGGTTCACTAA	0.542																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1591-1593)CCC>CCA		mucin 16							93.0	91.0	92.0					19																	9090222		2098	4232	6330	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090222G>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.1593C>A	19.37:g.9090222G>T							p.P531P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1797	-			531			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1593C>A	CCDS54212.1																																																																																				0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	7	1	0	2.4624e-09	0.008871	3.1819e-09	19	7				
KEAP1	9817	broad.mit.edu	37	19	10610411	10610411	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:10610411A>G	ENST00000171111.5	-	2	846	c.299T>C	c.(298-300)cTg>cCg	p.L100P	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.L100P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	100	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)				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)	GGATGAGGCCAGCACCACCTT	0.612																																							uc002moq.1		NA																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(298-300)CTG>CCG		kelch-like ECH-associated protein 1							83.0	67.0	72.0					19																	10610411		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610411A>G	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.299T>C	19.37:g.10610411A>G	ENSP00000171111:p.Leu100Pro					KEAP1_uc002mor.1_Missense_Mutation_p.L100P	p.L100P	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	455	-			100			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.299T>C	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323131	0.60634	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.90004	-2.6;-2.6	4.68	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	D	0.96231	0.8771	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97042	0.9758	10	0.87932	D	0	.	12.0934	0.53739	1.0:0.0:0.0:0.0	.	100	Q14145	KEAP1_HUMAN	P	100	ENSP00000171111:L100P;ENSP00000377245:L100P	ENSP00000171111:L100P	L	-	2	0	KEAP1	10471411	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	9.185000	0.94900	1.756000	0.51951	0.379000	0.24179	CTG		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		22	2	0	0	0	0.002299	0	22	2				
ILF3	3609	broad.mit.edu	37	19	10794217	10794217	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:10794217A>T	ENST00000590261.1	+	14	1850	c.1850A>T	c.(1849-1851)aAg>aTg	p.K617M	ILF3_ENST00000449870.1_Splice_Site_p.K621M|ILF3_ENST00000318511.3_Splice_Site_p.K617M|ILF3_ENST00000589998.1_Splice_Site_p.K617M|ILF3_ENST00000250241.8_Splice_Site_p.K617M|ILF3_ENST00000588657.1_Splice_Site_p.K621M|ILF3_ENST00000420083.1_Splice_Site_p.K617M|ILF3_ENST00000407004.3_Splice_Site_p.K621M|ILF3_ENST00000592763.1_Splice_Site_p.K621M			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	617	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTTGCTGCTAAGGTGAGCAGT	0.537																																							uc002mpn.2		NA																	0				ovary(3)	3						c.(1849-1851)AAG>ATG		interleukin enhancer binding factor 3 isoform a							62.0	72.0	69.0					19																	10794217		2203	4300	6503	SO:0001630	splice_region_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10794217A>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1851+1A>T	19.37:g.10794217A>T						ILF3_uc002mpm.2_Missense_Mutation_p.K621M|ILF3_uc002mpl.2_Missense_Mutation_p.K617M|ILF3_uc002mpk.2_Missense_Mutation_p.K617M|ILF3_uc010xli.1_Missense_Mutation_p.K215M|ILF3_uc002mpo.2_Missense_Mutation_p.K621M|ILF3_uc002mpp.2_Missense_Mutation_p.K442M|ILF3_uc002mpq.2_5'Flank	p.K617M	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		15	2167	+			617			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1850A>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448832	0.63178	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15487	2.42;2.42;2.44;2.43;2.44	4.69	4.69	0.59074	.	0.310878	0.29362	N	0.012374	T	0.19005	0.0456	N	0.08118	0	0.51012	D	0.9999	P;D;D;D;D;D	0.64830	0.921;0.994;0.989;0.987;0.987;0.987	P;P;P;P;P;P	0.59889	0.605;0.865;0.737;0.7;0.7;0.7	T	0.15492	-1.0435	10	0.56958	D	0.05	.	13.8126	0.63273	1.0:0.0:0.0:0.0	.	621;621;617;621;617;617	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	M	617;621;617;617;621;617	ENSP00000404121:K621M;ENSP00000315205:K617M;ENSP00000405436:K617M;ENSP00000384660:K621M;ENSP00000250241:K617M	ENSP00000250241:K617M	K	+	2	0	ILF3	10655217	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	4.412000	0.59787	2.059000	0.61396	0.482000	0.46254	AAG		0.537	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		Missense_Mutation	21	7	0	0	0	0.010504	0	21	7				
UNC13A	23025	broad.mit.edu	37	19	17756795	17756795	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:17756795C>G	ENST00000519716.2	-	18	2169	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	UNC13A_ENST00000552293.1_Missense_Mutation_p.E724Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.E724Q|UNC13A_ENST00000428389.2_Missense_Mutation_p.E812Q|UNC13A_ENST00000550896.1_Missense_Mutation_p.E722Q|UNC13A_ENST00000551649.1_Missense_Mutation_p.E724Q	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	724	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAATTCTCCTCCCACACCGGG	0.567																																							uc002nhd.2		NA																	0				ovary(3)	3						c.(2434-2436)GAG>CAG		unc-13 homolog A							66.0	64.0	65.0					19																	17756795		1952	4136	6088	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756795C>G	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2170G>C	19.37:g.17756795C>G	ENSP00000429562:p.Glu724Gln						p.E812Q	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			18	2434	-			724			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2434G>C	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957223	0.73902	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	3.85	3.85	0.44370	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.064020	0.64402	U	0.000012	T	0.70552	0.3237	L	0.35644	1.08	0.43130	D	0.994863	P	0.44260	0.83	P	0.51385	0.668	T	0.75288	-0.3370	10	0.72032	D	0.01	-24.9611	13.6311	0.62196	0.0:1.0:0.0:0.0	.	724	Q9UPW8	UN13A_HUMAN	Q	724;812;724;724;724;722	ENSP00000429562:E724Q;ENSP00000400409:E812Q;ENSP00000252773:E724Q;ENSP00000447236:E724Q;ENSP00000447572:E724Q;ENSP00000446831:E722Q	ENSP00000252773:E724Q	E	-	1	0	UNC13A	17617795	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.629000	0.83207	1.874000	0.54306	0.313000	0.20887	GAG		0.567	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		4	1	0	0	0	0.009096	0	4	1				
KXD1	79036	broad.mit.edu	37	19	18672929	18672929	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:18672929A>G	ENST00000602094.1	+	2	1523	c.63A>G	c.(61-63)acA>acG	p.T21T	KXD1_ENST00000540691.1_Silent_p.T21T|KXD1_ENST00000539106.1_Silent_p.T21T|KXD1_ENST00000601630.1_Silent_p.T21T|KXD1_ENST00000595073.1_Silent_p.T21T|KXD1_ENST00000599319.1_Silent_p.T21T|KXD1_ENST00000599000.1_Silent_p.T21T|AC005253.2_ENST00000597411.1_RNA|KXD1_ENST00000598830.1_Silent_p.T21T|KXD1_ENST00000222307.4_Silent_p.T21T			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	21					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)											TGGTGAACACAGATGATGTCA	0.587																																							uc002njo.2		NA																	0					0						c.(61-63)ACA>ACG		hypothetical protein LOC79036							54.0	45.0	48.0					19																	18672929		2203	4300	6503	SO:0001819	synonymous_variant	79036						protein binding	g.chr19:18672929A>G	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"""chromosome 19 open reading frame 50"""	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.63A>G	19.37:g.18672929A>G						C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Silent_p.T21T	p.T21T	NM_024069	NP_076974	Q9BQD3	CS050_HUMAN			2	205	+			21					O76098	Silent	SNP	ENST00000602094.1	37	c.63A>G	CCDS12381.1																																																																																				0.587	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		6	2	0	0	0	0.001168	0	6	2				
CRLF1	9244	broad.mit.edu	37	19	18704380	18704380	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:18704380C>G	ENST00000392386.3	-	9	1458	c.1265G>C	c.(1264-1266)aGa>aCa	p.R422T	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	422					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TACAGCTTATCTGGCAGGACC	0.627																																							uc010ebt.1		NA																	0				central_nervous_system(1)	1						c.(1264-1266)AGA>ACA		cytokine receptor-like factor 1 precursor							35.0	30.0	32.0					19																	18704380		2202	4300	6502	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18704380C>G	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1265G>C	19.37:g.18704380C>G	ENSP00000376188:p.Arg422Thr						p.R422T	NM_004750	NP_004741	O75462	CRLF1_HUMAN			9	1459	-			422					Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.1265G>C	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161012	0.57368	.	.	ENSG00000006016	ENST00000392386	D	0.82711	-1.64	4.38	4.38	0.52667	.	0.846205	0.09711	N	0.765668	T	0.81079	0.4748	N	0.08118	0	0.25959	N	0.98265	D	0.54601	0.967	P	0.60789	0.879	T	0.73297	-0.4027	10	0.87932	D	0	.	12.6189	0.56592	0.0:1.0:0.0:0.0	.	422	O75462	CRLF1_HUMAN	T	422	ENSP00000376188:R422T	ENSP00000376188:R422T	R	-	2	0	CRLF1	18565380	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.054000	0.41335	2.443000	0.82685	0.655000	0.94253	AGA		0.627	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			6	6	0	0	0	0.00308	0	6	6				
CRLF1	9244	broad.mit.edu	37	19	18709629	18709629	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:18709629G>T	ENST00000392386.3	-	3	673	c.480C>A	c.(478-480)caC>caA	p.H160Q		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	160	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGTCTCCCCGTGGGCCCCTG	0.607																																							uc010ebt.1		NA																	0				central_nervous_system(1)	1						c.(478-480)CAC>CAA		cytokine receptor-like factor 1 precursor							111.0	90.0	97.0					19																	18709629		2203	4300	6503	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18709629G>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.480C>A	19.37:g.18709629G>T	ENSP00000376188:p.His160Gln						p.H160Q	NM_004750	NP_004741	O75462	CRLF1_HUMAN			3	674	-			160			Fibronectin type-III 1.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.480C>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.446206	0.01089	.	.	ENSG00000006016	ENST00000392386	D	0.82433	-1.61	5.3	-10.6	0.00265	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.605896	0.17793	N	0.161804	T	0.37293	0.0998	N	0.00583	-1.355	0.20563	N	0.999885	B	0.06786	0.001	B	0.08055	0.003	T	0.57046	-0.7878	10	0.13108	T	0.6	-2.5397	2.2386	0.04014	0.4849:0.2186:0.1386:0.1579	.	160	O75462	CRLF1_HUMAN	Q	160	ENSP00000376188:H160Q	ENSP00000376188:H160Q	H	-	3	2	CRLF1	18570629	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-2.601000	0.00892	-2.001000	0.00964	0.313000	0.20887	CAC		0.607	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			22	25	1	0	1.77063e-15	0.005443	2.76467e-15	22	25				
ZNF626	199777	broad.mit.edu	37	19	20807979	20807979	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:20807979C>A	ENST00000601440.1	-	4	850	c.704G>T	c.(703-705)gGc>gTc	p.G235V	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAGGCTTTGCCACATTCTTC	0.388																																							uc002npb.1		NA																	0				skin(1)	1						c.(703-705)GGC>GTC		zinc finger protein 626 isoform 1							54.0	58.0	56.0					19																	20807979		2181	4287	6468	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807979C>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.704G>T	19.37:g.20807979C>A	ENSP00000469958:p.Gly235Val					ZNF626_uc002npc.1_Missense_Mutation_p.G159V	p.G235V	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	854	-			235			C2H2-type 3.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.704G>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	12.60	1.987535	0.35036	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81432	0.4821	H	0.95114	3.625	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.79386	-0.1825	8	0.87932	D	0	.	6.9412	0.24494	0.0:0.9999:0.0:1.0E-4	.	235	Q68DY1	ZN626_HUMAN	V	235;159;235	.	ENSP00000445201:G235V	G	-	2	0	ZNF626	20599819	0.000000	0.05858	0.587000	0.28692	0.586000	0.36452	0.080000	0.14802	0.162000	0.19483	0.165000	0.16767	GGC		0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		32	32	1	0	8.16721e-17	0.002096	1.31861e-16	32	32				
ZNF208	7757	broad.mit.edu	37	19	22171598	22171598	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:22171598G>T	ENST00000397126.4	-	2	265	c.117C>A	c.(115-117)aaC>aaA	p.N39K	ZNF208_ENST00000601773.1_Missense_Mutation_p.N39K|ZNF208_ENST00000599916.1_Missense_Mutation_p.N39K|ZNF208_ENST00000597040.1_Missense_Mutation_p.N7K	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	39	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)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGAAGACCAGGTTTCTGTAGT	0.423																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(115-117)AAC>AAA		zinc finger protein 208							135.0	146.0	142.0					19																	22171598		2203	4297	6500	SO:0001583	missense	7757							g.chr19:22171598G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.117C>A	19.37:g.22171598G>T	ENSP00000380315:p.Asn39Lys					ZNF208_uc002nqo.1_Missense_Mutation_p.N39K|ZNF208_uc002nqq.2_RNA	p.N39K	NM_007153	NP_009084					2	266	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.117C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	9.942	1.217841	0.22373	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.02579	4.24	1.32	0.179	0.15063	Krueppel-associated box (4);	.	.	.	.	T	0.05960	0.0155	.	.	.	0.09310	N	1	D;P	0.55605	0.972;0.539	P;B	0.57152	0.814;0.284	T	0.36939	-0.9727	8	0.52906	T	0.07	.	2.978	0.05943	0.3376:0.0:0.6624:0.0	.	39;39	O43345;F8WEA0	ZN208_HUMAN;.	K	39	ENSP00000380315:N39K	ENSP00000380315:N39K	N	-	3	2	ZNF208	21963438	0.003000	0.15002	0.011000	0.14972	0.786000	0.44442	-0.083000	0.11286	0.636000	0.30508	0.281000	0.19383	AAC		0.423	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		28	99	1	0	1.06801e-11	0.009535	1.50579e-11	28	99				
ZNF676	163223	broad.mit.edu	37	19	22363598	22363598	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:22363598T>C	ENST00000397121.2	-	3	1238	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACTTGTAGGGTTTCTCTCCAG	0.438																																							uc002nqs.1		NA																	0					0						c.(919-921)AAA>AAG		zinc finger protein 676							73.0	76.0	75.0					19																	22363598		2112	4252	6364	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363598T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.921A>G	19.37:g.22363598T>C							p.K307K	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1239	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	307					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.921A>G	CCDS42539.1																																																																																				0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		3	70	0	0	0	0.008291	0	3	70				
ZNF676	163223	broad.mit.edu	37	19	22363718	22363718	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:22363718G>T	ENST00000397121.2	-	3	1118	c.801C>A	c.(799-801)acC>acA	p.T267T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGTATTAAGGGTTGAGACGC	0.388																																							uc002nqs.1		NA																	0					0						c.(799-801)ACC>ACA		zinc finger protein 676							89.0	96.0	93.0					19																	22363718		2153	4272	6425	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363718G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.801C>A	19.37:g.22363718G>T							p.T267T	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1119	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	267			C2H2-type 4.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.801C>A	CCDS42539.1																																																																																				0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		24	39	1	0	1.64293e-13	0.00333	2.42691e-13	24	39				
ZNF98	148198	broad.mit.edu	37	19	22574632	22574632	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:22574632T>A	ENST00000357774.5	-	4	1526	c.1405A>T	c.(1405-1407)Aaa>Taa	p.K469*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTAAAAGCTTTGCCACATTCT	0.368																																							uc002nqt.2		NA																	0				ovary(1)|skin(1)	2						c.(1405-1407)AAA>TAA		zinc finger protein 98							28.0	24.0	25.0					19																	22574632		1624	3473	5097	SO:0001587	stop_gained	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574632T>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1405A>T	19.37:g.22574632T>A	ENSP00000350418:p.Lys469*						p.K469*	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	1527	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	469			C2H2-type 11.			Nonsense_Mutation	SNP	ENST00000357774.5	37	c.1405A>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	14.73	2.623405	0.46840	.	.	ENSG00000197360	ENST00000357774	.	.	.	1.26	-2.53	0.06326	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0073	0.09607	0.1769:0.0:0.2433:0.5798	.	.	.	.	X	469	.	ENSP00000350418:K469X	K	-	1	0	ZNF98	22366472	0.749000	0.28305	0.000000	0.03702	0.026000	0.11368	1.510000	0.35790	-1.319000	0.02286	-1.118000	0.02043	AAA		0.368	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		10	99	0	0	0	0.001855	0	10	99				
ZNF536	9745	broad.mit.edu	37	19	30936006	30936006	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:30936006G>T	ENST00000355537.3	+	2	1684	c.1537G>T	c.(1537-1539)Gcg>Tcg	p.A513S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	513					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCAAGGCTGCGGAGATGGA	0.637																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1537-1539)GCG>TCG		zinc finger protein 536							35.0	41.0	39.0					19																	30936006		2203	4299	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936006G>T		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.1537G>T	19.37:g.30936006G>T	ENSP00000347730:p.Ala513Ser					ZNF536_uc010edd.1_Missense_Mutation_p.A513S	p.A513S	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1675	+	Esophageal squamous(110;0.0834)		513					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1537G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346441	0.61073	.	.	ENSG00000198597	ENST00000355537	T	0.15139	2.45	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.49126	1.545	0.53688	D	0.999974	D;D	0.56521	0.976;0.976	P;P	0.54238	0.746;0.746	T	0.01169	-1.1430	10	0.17832	T	0.49	-21.9801	19.4573	0.94900	0.0:0.0:1.0:0.0	.	513;513	A7E228;O15090	.;ZN536_HUMAN	S	513	ENSP00000347730:A513S	ENSP00000347730:A513S	A	+	1	0	ZNF536	35627846	1.000000	0.71417	0.971000	0.41717	0.947000	0.59692	7.824000	0.86668	2.582000	0.87167	0.655000	0.94253	GCG		0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		30	47	1	0	1.88708e-17	0.008361	3.11741e-17	30	47				
GPI	2821	broad.mit.edu	37	19	34868446	34868446	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:34868446G>T	ENST00000356487.5	+	5	682	c.441G>T	c.(439-441)aaG>aaT	p.K147N	GPI_ENST00000586425.1_Missense_Mutation_p.K147N|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	147					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					ACACAGGCAAGACCATCACGG	0.597																																							uc002nvg.1		NA																	0				ovary(1)|kidney(1)	2						c.(439-441)AAG>AAT		glucose phosphate isomerase							120.0	100.0	107.0					19																	34868446		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34868446G>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.441G>T	19.37:g.34868446G>T	ENSP00000348877:p.Lys147Asn					GPI_uc002nvf.2_Missense_Mutation_p.K186N|GPI_uc010xrv.1_Intron|GPI_uc010xrw.1_Intron|GPI_uc010edl.1_Missense_Mutation_p.K147N	p.K147N	NM_000175	NP_000166	P06744	G6PI_HUMAN			5	544	+	Esophageal squamous(110;0.162)		147					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.441G>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105926	0.77096	.	.	ENSG00000105220	ENST00000356487	D	0.94138	-3.36	5.82	3.7	0.42460	.	0.000000	0.85682	D	0.000000	D	0.96873	0.8979	M	0.92784	3.345	0.52501	D	0.999958	D;D	0.62365	0.991;0.99	D;D	0.70487	0.969;0.947	D	0.96422	0.9312	10	0.87932	D	0	.	10.0627	0.42284	0.2688:0.0:0.7312:0.0	.	130;147	B4DVJ0;P06744	.;G6PI_HUMAN	N	147	ENSP00000348877:K147N	ENSP00000348877:K147N	K	+	3	2	GPI	39560286	0.999000	0.42202	0.791000	0.31998	0.891000	0.51852	2.796000	0.47869	0.793000	0.33875	0.655000	0.94253	AAG		0.597	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			20	55	1	0	1.10923e-09	0.00278	1.4478e-09	20	55				
ZNF302	55900	broad.mit.edu	37	19	35175591	35175591	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:35175591A>T	ENST00000446502.2	+	6	989	c.781A>T	c.(781-783)Agt>Tgt	p.S261C	ZNF302_ENST00000457781.2_Missense_Mutation_p.S217C|ZNF302_ENST00000505242.1_Missense_Mutation_p.S217C|ZNF302_ENST00000423823.2_Missense_Mutation_p.S217C|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTCAATCCTCAGTCGCCACTG	0.443																																							uc002nvr.1		NA																	0					0						c.(781-783)AGT>TGT		zinc finger protein 302							94.0	100.0	98.0					19																	35175591		2196	4295	6491	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175591A>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.781A>T	19.37:g.35175591A>T	ENSP00000396379:p.Ser261Cys					ZNF302_uc002nvp.1_Missense_Mutation_p.S217C|ZNF302_uc002nvq.1_Missense_Mutation_p.S217C|ZNF302_uc002nvs.1_Missense_Mutation_p.S217C	p.S261C	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		6	1044	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		296			C2H2-type 1.		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.781A>T		.	.	.	.	.	.	.	.	.	.	A	3.276	-0.148001	0.06627	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.20200	3.13;3.13;3.13;2.09	0.967	0.967	0.19674	.	.	.	.	.	T	0.24353	0.0590	L	0.52266	1.64	0.09310	N	1	P;P	0.46020	0.871;0.83	P;B	0.50791	0.65;0.427	T	0.14282	-1.0478	9	0.66056	D	0.02	.	3.0685	0.06222	0.6073:0.0:0.0:0.3927	.	261;217	E7EVR1;Q9NR11-2	.;.	C	217;217;217;261	ENSP00000391067:S217C;ENSP00000421028:S217C;ENSP00000405219:S217C;ENSP00000396379:S261C	ENSP00000405219:S217C	S	+	1	0	ZNF302	39867431	0.000000	0.05858	0.778000	0.31720	0.290000	0.27261	0.316000	0.19469	0.686000	0.31488	0.383000	0.25322	AGT		0.443	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			65	77	0	0	0	0.00361	0	65	77				
NPHS1	4868	broad.mit.edu	37	19	36336385	36336385	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:36336385G>T	ENST00000378910.5	-	14	1814	c.1815C>A	c.(1813-1815)gcC>gcA	p.A605A	NPHS1_ENST00000353632.6_Silent_p.A605A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	605	Ig-like C2-type 6.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACGCTCCTGGCGGCGGCGG	0.697																																							uc002oby.2		NA																	0				ovary(4)|skin(1)	5	GRCh37	CD044982	NPHS1	D		c.(1813-1815)GCC>GCA		nephrin precursor							22.0	27.0	25.0					19																	36336385		2199	4296	6495	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36336385G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1815C>A	19.37:g.36336385G>T							p.A605A	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		14	1815	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		605			Ig-like C2-type 6.|Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.1815C>A	CCDS32996.1																																																																																				0.697	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			22	15	1	0	1.28384e-07	0.001882	1.56122e-07	22	15				
CLIP3	25999	broad.mit.edu	37	19	36518058	36518058	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:36518058G>T	ENST00000360535.4	-	3	509	c.282C>A	c.(280-282)caC>caA	p.H94Q	CLIP3_ENST00000593074.1_Missense_Mutation_p.H94Q|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	94					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGTCTATCTTGTGCTGGACTT	0.607																																							uc010eeq.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(280-282)CAC>CAA		CAP-GLY domain containing linker protein 3							147.0	132.0	137.0					19																	36518058		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36518058G>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.282C>A	19.37:g.36518058G>T	ENSP00000353732:p.His94Gln					uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.H94Q	p.H94Q	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	564	-	Esophageal squamous(110;0.162)		94					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.282C>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947865	0.18356	.	.	ENSG00000105270	ENST00000360535;ENST00000534959	T	0.70516	-0.49	4.89	2.74	0.32292	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	N	0.00538	-1.39	0.51482	D	0.999928	B	0.26081	0.141	B	0.18263	0.021	T	0.40440	-0.9563	10	0.02654	T	1	-29.5916	7.4633	0.27308	0.0884:0.0:0.7452:0.1665	.	94	Q96DZ5	CLIP3_HUMAN	Q	94;70	ENSP00000353732:H94Q	ENSP00000353732:H94Q	H	-	3	2	CLIP3	41209898	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.629000	0.24538	0.643000	0.30638	0.557000	0.71058	CAC		0.607	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		29	42	1	0	3.99451e-17	0.009535	6.52314e-17	29	42				
ZNF566	84924	broad.mit.edu	37	19	36940594	36940594	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:36940594C>G	ENST00000434377.2	-	5	623	c.542G>C	c.(541-543)aGa>aCa	p.R181T	ZNF566_ENST00000493391.1_Missense_Mutation_p.R77T|ZNF566_ENST00000424129.2_Missense_Mutation_p.R181T|ZNF566_ENST00000454319.1_Missense_Mutation_p.R182T|ZNF566_ENST00000392170.2_Missense_Mutation_p.R182T	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	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)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGAGCCATGTCTAAAGGTTTT	0.378																																							uc002oea.3		NA																	0					0						c.(541-543)AGA>ACA		zinc finger protein 566 isoform 1							90.0	94.0	93.0					19																	36940594		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940594C>G	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.542G>C	19.37:g.36940594C>G	ENSP00000415520:p.Arg181Thr					ZNF566_uc010xte.1_Missense_Mutation_p.R181T|ZNF566_uc010xtf.1_Missense_Mutation_p.R182T|ZNF566_uc002oeb.3_Missense_Mutation_p.R181T|ZNF566_uc002oec.3_Missense_Mutation_p.R77T|ZNF566_uc010xtg.1_Missense_Mutation_p.R77T	p.R181T	NM_032838	NP_116227	Q969W8	ZN566_HUMAN			5	624	-	Esophageal squamous(110;0.162)		181			C2H2-type 1; degenerate.		B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.542G>C	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	C	0.514	-0.865238	0.02590	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;2.49	4.25	0.548	0.17208	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.138538	0.33272	N	0.005084	T	0.19446	0.0467	L	0.45744	1.44	0.09310	N	1	B;B	0.19200	0.034;0.012	B;B	0.20184	0.02;0.028	T	0.11743	-1.0575	10	0.20519	T	0.43	.	3.1517	0.06490	0.2923:0.4678:0.1445:0.0954	.	182;181	B7ZL95;Q969W8	.;ZN566_HUMAN	T	182;181;182;181;181	ENSP00000394207:R182T;ENSP00000415520:R181T;ENSP00000376010:R182T;ENSP00000401259:R181T;ENSP00000411526:R181T	ENSP00000376010:R182T	R	-	2	0	ZNF566	41632434	0.000000	0.05858	0.216000	0.23742	0.746000	0.42486	-0.716000	0.04991	0.508000	0.28173	0.555000	0.69702	AGA		0.378	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		29	60	0	0	0	0.00632	0	29	60				
ZNF260	339324	broad.mit.edu	37	19	37005495	37005495	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:37005495C>G	ENST00000523638.1	-	3	1767	c.646G>C	c.(646-648)Gga>Cga	p.G216R	ZNF260_ENST00000593142.1_Missense_Mutation_p.G216R|ZNF260_ENST00000588993.1_Missense_Mutation_p.G216R|ZNF260_ENST00000592282.1_Missense_Mutation_p.G216R	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	216					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GGTTTCTCTCCAGTATGGATT	0.403																																							uc002oee.1		NA																	0					0						c.(646-648)GGA>CGA		zinc finger protein 260							105.0	103.0	104.0					19																	37005495		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005495C>G	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.646G>C	19.37:g.37005495C>G	ENSP00000429803:p.Gly216Arg					ZNF260_uc002oed.1_Missense_Mutation_p.G213R|ZNF260_uc010eey.1_Missense_Mutation_p.G213R|ZNF260_uc002oef.1_Missense_Mutation_p.G213R	p.G216R	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	1490	-	Esophageal squamous(110;0.162)		216					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.646G>C	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276012	0.59649	.	.	ENSG00000254004	ENST00000523638	T	0.26223	1.75	4.69	3.65	0.41850	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33206	0.0855	L	0.45744	1.44	0.47123	D	0.999323	D	0.58268	0.982	P	0.52424	0.698	T	0.11179	-1.0598	9	0.66056	D	0.02	.	12.1832	0.54223	0.0:0.9146:0.0:0.0854	.	216	Q3ZCT1	ZN260_HUMAN	R	216	ENSP00000429803:G216R	ENSP00000429803:G216R	G	-	1	0	ZNF260	41697335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.707000	0.61852	1.326000	0.45319	0.561000	0.74099	GGA		0.403	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		63	58	0	0	0	0.00361	0	63	58				
RASGRP4	115727	broad.mit.edu	37	19	38903603	38903603	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:38903603G>T	ENST00000587738.1	-	12	1573	c.1503C>A	c.(1501-1503)gcC>gcA	p.A501A	RASGRP4_ENST00000433821.2_Silent_p.A409A|RASGRP4_ENST00000587753.1_Silent_p.A432A|RASGRP4_ENST00000454404.2_Silent_p.A467A|RASGRP4_ENST00000293062.9_Silent_p.A404A|RASGRP4_ENST00000586305.1_Silent_p.A487A|RASGRP4_ENST00000426920.2_Silent_p.A312A			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	501	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCATGGCAGGCGAAGGGAA	0.562																																							uc002oir.2		NA																	0				pancreas(1)|lung(1)|skin(1)	3						c.(1501-1503)GCC>GCA		RAS guanyl releasing protein 4 isoform a							57.0	62.0	60.0					19																	38903603		1933	4140	6073	SO:0001819	synonymous_variant	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38903603G>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1503C>A	19.37:g.38903603G>T						RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Silent_p.A432A|RASGRP4_uc010xub.1_Silent_p.A467A|RASGRP4_uc010xuc.1_Silent_p.A409A|RASGRP4_uc010xud.1_Silent_p.A404A|RASGRP4_uc010xue.1_Silent_p.A312A|RASGRP4_uc010egb.2_Silent_p.A487A	p.A501A	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		12	1717	-	all_cancers(60;4.21e-06)		501			EF-hand.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	ENST00000587738.1	37	c.1503C>A	CCDS46068.1																																																																																				0.562	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		39	44	1	0	1.32136e-16	0.00874	2.12611e-16	39	44				
RYR1	6261	broad.mit.edu	37	19	39063883	39063883	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:39063883A>G	ENST00000359596.3	+	96	14065	c.14065A>G	c.(14065-14067)Atc>Gtc	p.I4689V	RYR1_ENST00000360985.3_Missense_Mutation_p.I4684V|RYR1_ENST00000355481.4_Missense_Mutation_p.I4684V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4689					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGGCCTGTACATCACGGAGCA	0.622																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(14065-14067)ATC>GTC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						114.0	96.0	102.0					19																	39063883		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39063883A>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14065A>G	19.37:g.39063883A>G	ENSP00000352608:p.Ile4689Val					RYR1_uc002oiu.2_Missense_Mutation_p.I4684V	p.I4689V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		96	14195	+	all_cancers(60;7.91e-06)		4689					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14065A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.451528	0.26074	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97066	-4.23;-4.23;-4.22	4.52	4.52	0.55395	.	0.182364	0.33610	U	0.004740	D	0.93350	0.7880	L	0.28054	0.825	0.42714	D	0.993658	B;B	0.14012	0.009;0.005	B;B	0.16722	0.016;0.007	D	0.90777	0.4676	10	0.36615	T	0.2	.	13.6586	0.62352	1.0:0.0:0.0:0.0	.	4684;4689	P21817-2;P21817	.;RYR1_HUMAN	V	4689;4684;4684	ENSP00000352608:I4689V;ENSP00000347667:I4684V;ENSP00000354254:I4684V	ENSP00000347667:I4684V	I	+	1	0	RYR1	43755723	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	5.869000	0.69613	1.909000	0.55274	0.379000	0.24179	ATC		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			22	30	0	0	0	0.00278	0	22	30				
CLC	1178	broad.mit.edu	37	19	40224969	40224969	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:40224969C>T	ENST00000221804.4	-	3	332	c.257G>A	c.(256-258)gGc>gAc	p.G86D		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	86	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)	p.G86D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		AAATTCTTGGCCATCCTGAAA	0.547																																							uc002omh.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(256-258)GGC>GAC		Charcot-Leyden crystal protein							185.0	150.0	161.0					19																	40224969		2203	4300	6503	SO:0001583	missense	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40224969C>T	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.257G>A	19.37:g.40224969C>T	ENSP00000221804:p.Gly86Asp						p.G86D	NM_001828	NP_001819	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	3	333	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	86			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	c.257G>A	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042506	0.35989	.	.	ENSG00000105205	ENST00000221804	T	0.26223	1.75	1.22	1.22	0.21188	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.46964	0.1420	M	0.88906	2.99	0.09310	N	1	D	0.61080	0.989	P	0.59825	0.864	T	0.27088	-1.0084	9	0.66056	D	0.02	.	5.704	0.17899	0.0:1.0:0.0:0.0	.	86	Q05315	LPPL_HUMAN	D	86	ENSP00000221804:G86D	ENSP00000221804:G86D	G	-	2	0	CLC	44916809	0.003000	0.15002	0.052000	0.19188	0.096000	0.18686	-0.032000	0.12266	0.608000	0.30000	0.187000	0.17357	GGC		0.547	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		36	71	0	0	0	0.004289	0	36	71				
FCGBP	8857	broad.mit.edu	37	19	40424300	40424300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:40424300C>A	ENST00000221347.6	-	4	1910	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	635	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTGCGAACTCCACAGCGTCA	0.602																																							uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1903-1905)GAG>TAG		Fc fragment of IgG binding protein precursor							163.0	173.0	170.0					19																	40424300		2203	4300	6503	SO:0001587	stop_gained	8857					extracellular region	protein binding	g.chr19:40424300C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1903G>T	19.37:g.40424300C>A	ENSP00000221347:p.Glu635*						p.E635*	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		4	1911	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		635			VWFD 1.		O95784	Nonsense_Mutation	SNP	ENST00000221347.6	37	c.1903G>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	39	7.288647	0.98189	.	.	ENSG00000090920	ENST00000221347	.	.	.	5.21	5.21	0.72293	.	0.450365	0.18269	N	0.146371	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	17.53	0.87811	0.0:1.0:0.0:0.0	.	.	.	.	X	635	.	ENSP00000221347:E635X	E	-	1	0	FCGBP	45116140	0.002000	0.14202	0.968000	0.41197	0.450000	0.32258	1.700000	0.37815	2.441000	0.82636	0.561000	0.74099	GAG		0.602	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		107	169	1	0	2.44514e-32	0.00361	4.90406e-32	107	169				
PRX	57716	broad.mit.edu	37	19	40902280	40902280	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:40902280G>A	ENST00000324001.7	-	7	2249	c.1979C>T	c.(1978-1980)cCg>cTg	p.P660L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	660	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGACTTTCGGGAGCTGCAC	0.562																																							uc002onr.2		NA																	0				ovary(2)	2						c.(1978-1980)CCG>CTG		periaxin isoform 2							88.0	99.0	95.0					19																	40902280		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902280G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1979C>T	19.37:g.40902280G>A	ENSP00000326018:p.Pro660Leu					PRX_uc002onq.2_Missense_Mutation_p.P521L|PRX_uc002ons.2_3'UTR	p.P660L	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2248	-			660			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1979C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686105	0.47991	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02974	4.09	4.58	4.58	0.56647	.	0.000000	0.49916	D	0.000123	T	0.10337	0.0253	M	0.61703	1.905	0.24560	N	0.993978	D	0.89917	1.0	D	0.91635	0.999	T	0.04140	-1.0974	10	0.72032	D	0.01	-16.7147	7.1169	0.25421	0.1848:0.0:0.8152:0.0	.	660	Q9BXM0	PRAX_HUMAN	L	660	ENSP00000326018:P660L	ENSP00000326018:P660L	P	-	2	0	PRX	45594120	.	.	0.169000	0.22859	0.626000	0.37791	.	.	2.568000	0.86640	0.650000	0.86243	CCG		0.562	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		118	113	0	0	0	0.00361	0	118	113				
ITPKC	80271	broad.mit.edu	37	19	41223332	41223332	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:41223332G>C	ENST00000263370.2	+	1	325	c.292G>C	c.(292-294)Gcg>Ccg	p.A98P	ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	98					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GACTGAGCCCGCGGCAGCTGG	0.652																																							uc002oot.2		NA																	0					0						c.(292-294)GCG>CCG		inositol 1,4,5-trisphosphate 3-kinase C							26.0	32.0	30.0					19																	41223332		2202	4298	6500	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223332G>C	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.292G>C	19.37:g.41223332G>C	ENSP00000263370:p.Ala98Pro					ADCK4_uc002ooq.1_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	p.A98P	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	325	+			98					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.292G>C	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	0.923	-0.715360	0.03206	.	.	ENSG00000086544	ENST00000263370	.	.	.	4.28	0.694	0.18062	.	1.117540	0.06895	N	0.804889	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25187	-1.0139	9	0.31617	T	0.26	-1.9895	6.551	0.22433	0.0845:0.1283:0.6544:0.1327	.	98	Q96DU7	IP3KC_HUMAN	P	98	.	ENSP00000263370:A98P	A	+	1	0	ITPKC	45915172	0.000000	0.05858	0.091000	0.20842	0.001000	0.01503	0.104000	0.15313	0.191000	0.20236	-2.175000	0.00321	GCG		0.652	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		26	20	0	0	0	0.004656	0	26	20				
PSG4	5672	broad.mit.edu	37	19	43702180	43702180	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:43702180G>A	ENST00000405312.3	-	3	915	c.678C>T	c.(676-678)agC>agT	p.S226S	PSG4_ENST00000244295.9_Silent_p.S226S|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	226	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTCACTGCGGCTGGCACTCA	0.522																																							uc002ovy.2		NA																	0				ovary(1)	1						c.(676-678)AGC>AGT		pregnancy specific beta-1-glycoprotein 4 isoform							57.0	69.0	65.0					19																	43702180		2120	4262	6382	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43702180G>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.678C>T	19.37:g.43702180G>A						PSG6_uc010xwk.1_Silent_p.S65S|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Intron|PSG4_uc002ovz.2_Silent_p.S226S	p.S226S	NM_002780	NP_002771	Q00888	PSG4_HUMAN			3	780	-		Prostate(69;0.00682)	226			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.678C>T	CCDS46093.1																																																																																				0.522	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		45	162	0	0	0	0.00361	0	45	162				
ZNF221	7638	broad.mit.edu	37	19	44470421	44470421	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:44470421G>T	ENST00000251269.5	+	6	1095	c.767G>T	c.(766-768)tGt>tTt	p.C256F	ZNF221_ENST00000587682.1_Missense_Mutation_p.C256F|ZNF221_ENST00000592350.1_Missense_Mutation_p.C256F	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	256			C -> R (in dbSNP:rs439676). {ECO:0000269|PubMed:12743021, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CCATTCAAATGTGGGCAATGT	0.398																																							uc002oxx.2		NA																	0				skin(1)	1						c.(766-768)TGT>TTT		zinc finger protein 221							126.0	125.0	125.0					19																	44470421		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470421G>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.767G>T	19.37:g.44470421G>T	ENSP00000251269:p.Cys256Phe					ZNF221_uc010ejb.1_Missense_Mutation_p.C256F|ZNF221_uc010xws.1_Missense_Mutation_p.C256F	p.C256F	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	1095	+		Prostate(69;0.0352)	256			C2H2-type 4; degenerate.		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.767G>T	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	16.78	3.216835	0.58452	.	.	ENSG00000159905	ENST00000251269	D	0.85088	-1.94	2.43	-0.109	0.13584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93396	0.7894	H	0.96633	3.855	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83452	0.0049	9	0.87932	D	0	.	5.6121	0.17410	0.1192:0.0:0.6888:0.192	.	256	Q9UK13	ZN221_HUMAN	F	256	ENSP00000251269:C256F	ENSP00000251269:C256F	C	+	2	0	ZNF221	49162261	0.000000	0.05858	0.000000	0.03702	0.722000	0.41435	0.209000	0.17435	-0.074000	0.12820	0.455000	0.32223	TGT		0.398	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			58	83	1	0	4.46115e-38	0.00361	9.19346e-38	58	83				
TOMM40	10452	broad.mit.edu	37	19	45395673	45395673	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:45395673G>C	ENST00000426677.2	+	2	478	c.298G>C	c.(298-300)Ggt>Cgt	p.G100R	TOMM40_ENST00000405636.2_Missense_Mutation_p.G100R|TOMM40_ENST00000592434.1_Missense_Mutation_p.G100R|CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000252487.5_Missense_Mutation_p.G100R	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	100					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		TCAGATGGAGGGTGTCAAGCT	0.552																																							uc002ozx.3		NA																	0					0						c.(298-300)GGT>CGT		translocase of outer mitochondrial membrane 40							207.0	173.0	184.0					19																	45395673		2203	4300	6503	SO:0001583	missense	10452				protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity	g.chr19:45395673G>C	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.298G>C	19.37:g.45395673G>C	ENSP00000410339:p.Gly100Arg					TOMM40_uc002ozy.3_Missense_Mutation_p.G100R|TOMM40_uc002paa.3_Missense_Mutation_p.G100R|TOMM40_uc002ozz.2_Missense_Mutation_p.G100R	p.G100R	NM_006114	NP_006105	O96008	TOM40_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)	3	399	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)		100					Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	ENST00000426677.2	37	c.298G>C	CCDS12646.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265781	0.80358	.	.	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.57107	0.42;0.42;0.42	4.33	3.29	0.37713	.	0.055971	0.64402	D	0.000001	T	0.76593	0.4009	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80144	-0.1505	10	0.87932	D	0	-14.9366	10.0354	0.42125	0.1014:0.0:0.8986:0.0	.	100;100	O96008-2;O96008	.;TOM40_HUMAN	R	100	ENSP00000410339:G100R;ENSP00000385184:G100R;ENSP00000252487:G100R	ENSP00000252487:G100R	G	+	1	0	TOMM40	50087513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.243000	0.95416	0.938000	0.37419	0.455000	0.32223	GGT		0.552	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			44	62	0	0	0	0.00874	0	44	62				
HIF3A	64344	broad.mit.edu	37	19	46832551	46832551	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:46832551A>G	ENST00000377670.4	+	12	1559	c.1528A>G	c.(1528-1530)Agg>Ggg	p.R510G	HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000339613.2_Missense_Mutation_p.R454G|HIF3A_ENST00000420102.2_Missense_Mutation_p.R459G|HIF3A_ENST00000244303.6_Missense_Mutation_p.R441G|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.R441G|HIF3A_ENST00000300862.3_Missense_Mutation_p.R508G	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	510	ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCAGCTACCCAGGGCCTACCA	0.647																																							uc002peh.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1528-1530)AGG>GGG		hypoxia inducible factor 3, alpha subunit							56.0	57.0	57.0					19																	46832551		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46832551A>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1528A>G	19.37:g.46832551A>G	ENSP00000366898:p.Arg510Gly					HIF3A_uc002peg.3_Missense_Mutation_p.R510G|HIF3A_uc002pei.3_Missense_Mutation_p.R454G|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.R454G|HIF3A_uc010xxy.1_Missense_Mutation_p.R441G|HIF3A_uc002pel.2_Missense_Mutation_p.R508G|HIF3A_uc010xxz.1_Missense_Mutation_p.R459G	p.R510G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	12	1557	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	510			ODD.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1528A>G	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416777	0.42918	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.65916	0.55;-0.18;0.44;0.56;-0.18	4.82	2.63	0.31362	.	0.475945	0.15801	N	0.243974	T	0.37073	0.0990	N	0.08118	0	0.23731	N	0.996991	P;B;B;P;B;B	0.36535	0.557;0.393;0.218;0.458;0.258;0.164	B;B;B;B;B;B	0.39258	0.295;0.134;0.082;0.264;0.134;0.134	T	0.13442	-1.0509	10	0.24483	T	0.36	.	4.34	0.11105	0.6891:0.2061:0.1048:0.0	.	459;441;508;454;510;510	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	G	510;510;441;454;454;508;459	ENSP00000366898:R510G;ENSP00000244303:R441G;ENSP00000341877:R454G;ENSP00000300862:R508G;ENSP00000407771:R459G	ENSP00000244302:R510G	R	+	1	2	HIF3A	51524391	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	1.029000	0.30140	0.760000	0.33108	0.533000	0.62120	AGG		0.647	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			44	48	0	0	0	0.003214	0	44	48				
GLTSCR1	29998	broad.mit.edu	37	19	48179129	48179129	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:48179129G>A	ENST00000396720.3	+	5	300	c.106G>A	c.(106-108)Gat>Aat	p.D36N	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	36										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TGACCTCCTGGATAATCCCGG	0.582																																							uc002phh.3		NA																	0				pancreas(3)	3						c.(106-108)GAT>AAT		glioma tumor suppressor candidate region gene 1							40.0	37.0	38.0					19																	48179129		1568	3582	5150	SO:0001583	missense	29998						protein binding	g.chr19:48179129G>A	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.106G>A	19.37:g.48179129G>A	ENSP00000379946:p.Asp36Asn						p.D36N	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	5	300	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	36					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.106G>A	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732677	0.48939	.	.	ENSG00000063169	ENST00000396720	T	0.67523	-0.27	3.84	3.84	0.44239	.	.	.	.	.	T	0.68100	0.2964	N	0.14661	0.345	0.39024	D	0.959793	D	0.89917	1.0	D	0.83275	0.996	T	0.73196	-0.4059	9	0.46703	T	0.11	.	15.0285	0.71687	0.0:0.0:1.0:0.0	.	36	Q9NZM4	GSCR1_HUMAN	N	36	ENSP00000379946:D36N	ENSP00000379946:D36N	D	+	1	0	GLTSCR1	52870941	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	8.225000	0.89784	2.145000	0.66743	0.544000	0.68410	GAT		0.582	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		18	8	0	0	0	0.006122	0	18	8				
C19orf73	55150	broad.mit.edu	37	19	49622182	49622182	+	Missense_Mutation	SNP	T	T	A	rs531226605		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:49622182T>A	ENST00000408991.2	-	1	215	c.98A>T	c.(97-99)cAt>cTt	p.H33L	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	33										large_intestine(1)|lung(2)	3						GGGTGCAGAATGAGGTGCCCT	0.682																																							uc002pmq.3		NA																	0				large_intestine(1)	1						c.(97-99)CAT>CTT		hypothetical protein LOC55150							24.0	28.0	27.0					19																	49622182		1997	4155	6152	SO:0001583	missense	55150							g.chr19:49622182T>A	AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.98A>T	19.37:g.49622182T>A	ENSP00000386230:p.His33Leu					PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank	p.H33L	NM_018111	NP_060581	Q9NVV2	CS073_HUMAN			1	216	-			33					Q6NSX4	Missense_Mutation	SNP	ENST00000408991.2	37	c.98A>T	CCDS42589.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850862	0.32699	.	.	ENSG00000221916	ENST00000408991	T	0.52983	0.64	3.45	-3.62	0.04543	.	.	.	.	.	T	0.20536	0.0494	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.14671	-1.0464	9	0.87932	D	0	.	0.8306	0.01129	0.1631:0.2201:0.3306:0.2862	.	33	Q9NVV2	CS073_HUMAN	L	33	ENSP00000386230:H33L	ENSP00000386230:H33L	H	-	2	0	C19orf73	54313994	0.000000	0.05858	0.005000	0.12908	0.929000	0.56500	-1.875000	0.01634	-0.908000	0.03857	0.459000	0.35465	CAT		0.682	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466275.1	NM_018111		32	35	0	0	0	0.002096	0	32	35				
TBC1D17	79735	broad.mit.edu	37	19	50384576	50384576	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:50384576G>T	ENST00000221543.5	+	5	670	c.371G>T	c.(370-372)gGg>gTg	p.G124V	TBC1D17_ENST00000535102.2_Missense_Mutation_p.G91V|AKT1S1_ENST00000482622.1_5'Flank|TBC1D17_ENST00000598789.1_3'UTR	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	124					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GTGAGTCTGGGGGAGCTAAAG	0.657																																							uc002pqo.2		NA																	0					0						c.(370-372)GGG>GTG		TBC1 domain family, member 17							28.0	29.0	29.0					19																	50384576		2203	4299	6502	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50384576G>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.371G>T	19.37:g.50384576G>T	ENSP00000221543:p.Gly124Val					TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Missense_Mutation_p.G91V|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_5'Flank	p.G124V	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	5	523	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	124					B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.371G>T	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228770	0.39399	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.29655	1.56;1.56	5.56	3.32	0.38043	Domain of unknown function DUF3548 (1);	0.145674	0.48767	D	0.000162	T	0.17365	0.0417	N	0.22421	0.69	0.53688	D	0.99997	P;B	0.40834	0.73;0.073	B;B	0.36186	0.219;0.105	T	0.03086	-1.1074	10	0.45353	T	0.12	-48.6905	7.4908	0.27460	0.0881:0.2796:0.6323:0.0	.	91;124	F5H1W7;Q9HA65	.;TBC17_HUMAN	V	124;91	ENSP00000221543:G124V;ENSP00000446323:G91V	ENSP00000221543:G124V	G	+	2	0	TBC1D17	55076388	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	5.631000	0.67812	1.354000	0.45846	0.561000	0.74099	GGG		0.657	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		15	23	1	0	4.93089e-13	0.00245	7.2313e-13	15	23				
GPR32	2854	broad.mit.edu	37	19	51274689	51274689	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51274689G>C	ENST00000270590.4	+	1	969	c.832G>C	c.(832-834)Gtc>Ctc	p.V278L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	278					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			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)		GGTGCTGTTGGTCCATCTGTG	0.597																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(832-834)GTC>CTC		G protein-coupled receptor 32							95.0	93.0	94.0					19																	51274689		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274689G>C	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.832G>C	19.37:g.51274689G>C	ENSP00000270590:p.Val278Leu						p.V278L	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	832	+		all_neural(266;0.131)	278			Helical; Name=6; (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.832G>C	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	1.539	-0.542176	0.04053	.	.	ENSG00000142511	ENST00000270590	T	0.34472	1.36	2.56	0.163	0.14986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09202	0.0227	N	0.01146	-0.985	0.09310	N	1	B	0.20550	0.046	B	0.18871	0.023	T	0.35822	-0.9773	9	0.02654	T	1	.	4.303	0.10933	0.1575:0.4817:0.3608:0.0	.	278	O75388	GPR32_HUMAN	L	278	ENSP00000270590:V278L	ENSP00000270590:V278L	V	+	1	0	GPR32	55966501	0.256000	0.24012	0.009000	0.14445	0.347000	0.29111	0.420000	0.21263	0.296000	0.22592	0.313000	0.20887	GTC		0.597	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			42	48	0	0	0	0.00874	0	42	48				
KLK3	354	broad.mit.edu	37	19	51359527	51359527	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51359527G>T	ENST00000326003.2	+	2	119	c.78G>T	c.(76-78)gtG>gtT	p.V26V	KLK3_ENST00000597483.1_Silent_p.V26V|KLK3_ENST00000593997.1_Silent_p.V26V|KLK3_ENST00000360617.3_Silent_p.V26V|KLK3_ENST00000595952.1_Silent_p.V26V	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	26	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CTCGGATTGTGGGAGGCTGGG	0.627																																					Colon(185;1767 2023 13025 30120 37630)	Colon(185;1767 2023 13025 30120 37630)	uc002pts.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(76-78)GTG>GTT		prostate specific antigen isoform 3							109.0	98.0	101.0					19																	51359527		2203	4300	6503	SO:0001819	synonymous_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51359527G>T	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.78G>T	19.37:g.51359527G>T						KLK3_uc002ptp.1_Silent_p.V26V|KLK3_uc010ycj.1_Silent_p.V26V|KLK3_uc002ptr.1_Silent_p.V26V|KLK3_uc010eof.1_RNA	p.V26V	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	2	119	+		all_neural(266;0.057)	26			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	c.78G>T	CCDS12807.1																																																																																				0.627	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		64	53	1	0	1.72039e-30	0.00361	3.40255e-30	64	53				
CD33	945	broad.mit.edu	37	19	51742912	51742912	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51742912C>A	ENST00000262262.4	+	7	1085	c.1064C>A	c.(1063-1065)tCc>tAc	p.S355Y	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.S228Y	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	355					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AAGGACACCTCCACCGAATAC	0.537																																							uc002pwa.2		NA																	0					0						c.(1063-1065)TCC>TAC		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						94.0	79.0	84.0					19																	51742912		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51742912C>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.1064C>A	19.37:g.51742912C>A	ENSP00000262262:p.Ser355Tyr					CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.S228Y|CD33_uc010eou.1_RNA	p.S355Y	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	7	1104	+		all_neural(266;0.0199)	355			Cytoplasmic (Potential).		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.1064C>A	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	C	8.408	0.843469	0.16963	.	.	ENSG00000105383	ENST00000262262;ENST00000421133	T;T	0.06768	3.26;3.26	2.29	-3.46	0.04767	.	.	.	.	.	T	0.05868	0.0153	L	0.41824	1.3	0.09310	N	1	P;P	0.45902	0.868;0.764	B;B	0.38842	0.283;0.114	T	0.18147	-1.0346	9	0.49607	T	0.09	.	5.4516	0.16568	0.2996:0.5583:0.1421:0.0	.	228;355	C9JEN7;P20138	.;CD33_HUMAN	Y	355;228	ENSP00000262262:S355Y;ENSP00000410126:S228Y	ENSP00000262262:S355Y	S	+	2	0	CD33	56434724	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-1.880000	0.01627	-0.962000	0.03604	0.313000	0.20887	TCC		0.537	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		20	36	1	0	2.37509e-13	0.010504	3.5048e-13	20	36				
SIGLEC8	27181	broad.mit.edu	37	19	51960828	51960828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51960828G>T	ENST00000321424.3	-	2	686	c.620C>A	c.(619-621)tCa>tAa	p.S207*	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	207	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGTGAGCACTGAGGAGCGGGC	0.662																																							uc002pwt.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(619-621)TCA>TAA		sialic acid binding Ig-like lectin 8 precursor							50.0	49.0	49.0					19																	51960828		2203	4300	6503	SO:0001587	stop_gained	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960828G>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.620C>A	19.37:g.51960828G>T	ENSP00000321077:p.Ser207*					SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Intron	p.S207*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	687	-		all_neural(266;0.0199)	207			Ig-like C2-type 1.|Extracellular (Potential).		Q7Z728	Nonsense_Mutation	SNP	ENST00000321424.3	37	c.620C>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	17.57	3.421760	0.62622	.	.	ENSG00000105366	ENST00000321424	.	.	.	2.69	1.63	0.23807	.	0.000000	0.35040	N	0.003491	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5805	0.17247	0.165:0.0:0.835:0.0	.	.	.	.	X	207	.	ENSP00000321077:S207X	S	-	2	0	SIGLEC8	56652640	0.091000	0.21658	0.014000	0.15608	0.006000	0.05464	3.507000	0.53371	0.451000	0.26802	-0.368000	0.07277	TCA		0.662	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		37	38	1	0	1.58521e-26	0.005524	3.0138e-26	37	38				
FPR2	2358	broad.mit.edu	37	19	52272475	52272475	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:52272475G>A	ENST00000598776.1	+	2	1336	c.564G>A	c.(562-564)gaG>gaA	p.E188E	FPR2_ENST00000340023.6_Silent_p.E188E|FPR2_ENST00000598953.1_Silent_p.E188E	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	188					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCACCCCTGAGGAGAGGCTGA	0.483																																							uc002pxr.2		NA																	0				lung(3)|ovary(1)	4						c.(562-564)GAG>GAA		formyl peptide receptor-like 1							137.0	123.0	128.0					19																	52272475		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272475G>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.564G>A	19.37:g.52272475G>A						FPR2_uc002pxs.3_Silent_p.E188E|FPR2_uc010epf.2_Silent_p.E188E	p.E188E	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	609	+			188			Extracellular (Potential).		A8K3E2	Silent	SNP	ENST00000598776.1	37	c.564G>A	CCDS12840.1																																																																																				0.483	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		40	65	0	0	0	0.00874	0	40	65				
FPR3	2359	broad.mit.edu	37	19	52327904	52327904	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:52327904C>A	ENST00000339223.4	+	2	1082	c.903C>A	c.(901-903)ctC>ctA	p.L301L	FPR3_ENST00000595991.1_Silent_p.L301L	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	301					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ACCCAATTCTCTACGTCTTTA	0.453																																							uc002pxt.1		NA																	0				lung(4)|breast(1)|skin(1)	6						c.(901-903)CTC>CTA		formyl peptide receptor-like 2							149.0	145.0	146.0					19																	52327904		2203	4300	6503	SO:0001819	synonymous_variant	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327904C>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.903C>A	19.37:g.52327904C>A							p.L301L	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	1087	+			301			Helical; Name=7; (Potential).			Silent	SNP	ENST00000339223.4	37	c.903C>A	CCDS12841.1																																																																																				0.453	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		52	115	1	0	2.5401e-28	0.00361	4.95493e-28	52	115				
ZNF616	90317	broad.mit.edu	37	19	52619865	52619865	+	Silent	SNP	C	C	G	rs187731460	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:52619865C>G	ENST00000600228.1	-	4	813	c.552G>C	c.(550-552)acG>acC	p.T184T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TACATACATACGTTTTTTCCC	0.363																																							uc002pym.2		NA																	0					0						c.(550-552)ACG>ACC		zinc finger protein 616							164.0	154.0	158.0					19																	52619865		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619865C>G	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.552G>C	19.37:g.52619865C>G						ZNF616_uc002pyn.2_RNA	p.T184T	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	835	-			184					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.552G>C	CCDS33090.1																																																																																				0.363	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		65	72	0	0	0	0.00361	0	65	72				
PPP2R1A	5518	broad.mit.edu	37	19	52725455	52725455	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:52725455C>G	ENST00000322088.6	+	13	1680	c.1622C>G	c.(1621-1623)gCc>gGc	p.A541G	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A486G|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A362G	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	541	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCAATGTGGCCAAGTCTCTG	0.577			Mis		clear cell ovarian carcinoma																																		uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1621-1623)GCC>GGC		alpha isoform of regulatory subunit A, protein							85.0	70.0	75.0					19																	52725455		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52725455C>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1622C>G	19.37:g.52725455C>G	ENSP00000324804:p.Ala541Gly					PPP2R1A_uc010ydk.1_Missense_Mutation_p.A486G|PPP2R1A_uc002pyq.2_Missense_Mutation_p.A362G	p.A541G	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	13	1781	+			541			PP2A subunit C binding.|HEAT 14.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1622C>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855844	0.71834	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.38077	1.16;1.88	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000009	T	0.49457	0.1558	M	0.89353	3.025	0.80722	D	1	B;B	0.20550	0.046;0.003	B;B	0.27380	0.076;0.079	T	0.56390	-0.7987	10	0.62326	D	0.03	-27.5558	15.6642	0.77213	0.0:1.0:0.0:0.0	.	486;541	F5H3X9;P30153	.;2AAA_HUMAN	G	531;461;541;108;486	ENSP00000324804:A541G;ENSP00000415067:A486G	ENSP00000324804:A541G	A	+	2	0	PPP2R1A	57417267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.745000	0.74860	2.636000	0.89361	0.655000	0.94253	GCC		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		23	53	0	0	0	0.002299	0	23	53				
NLRP12	91662	broad.mit.edu	37	19	54297355	54297355	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54297355C>G	ENST00000324134.6	-	10	3302	c.3134G>C	c.(3133-3135)aGt>aCt	p.S1045T	NLRP12_ENST00000345770.5_Missense_Mutation_p.S990T|NLRP12_ENST00000351894.4_Missense_Mutation_p.S933T|NLRP12_ENST00000354278.3_Missense_Mutation_p.S876T|NLRP12_ENST00000391773.1_Missense_Mutation_p.S1046T|NLRP12_ENST00000391775.3_Missense_Mutation_p.S988T|NLRP12_ENST00000391772.1_Missense_Mutation_p.S876T|NLRP12_ENST00000535162.1_Missense_Mutation_p.S988T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1045					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGCCAACCTACTGTGGGTCAT	0.443																																							uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(3133-3135)AGT>ACT		NLR family, pyrin domain containing 12 isoform							163.0	132.0	142.0					19																	54297355		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54297355C>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3134G>C	19.37:g.54297355C>G	ENSP00000319377:p.Ser1045Thr					NLRP12_uc010eqw.2_Missense_Mutation_p.S271T|NLRP12_uc002qci.3_Missense_Mutation_p.S988T|NLRP12_uc002qcj.3_Missense_Mutation_p.S1046T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR	p.S1045T	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	10	3354	-	Ovarian(34;0.19)		1045			LRR 8.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.3134G>C	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.316916	0.01331	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.73897	0.64;0.62;0.59;-0.79;0.62;0.64;-0.76	4.44	1.8	0.24995	.	.	.	.	.	T	0.57636	0.2067	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.34372	0.451;0.009;0.013;0.016	B;B;B;B	0.32864	0.154;0.033;0.016;0.025	T	0.44967	-0.9293	9	0.30854	T	0.27	.	4.5732	0.12219	0.0:0.6191:0.0:0.3809	.	271;1045;988;1045	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	1045;988;933;876;271;988;1046;989;876	ENSP00000319377:S1045T;ENSP00000438030:S988T;ENSP00000340473:S933T;ENSP00000346231:S876T;ENSP00000375655:S988T;ENSP00000375653:S1046T;ENSP00000375652:S876T	ENSP00000319377:S1045T	S	-	2	0	NLRP12	58989167	0.156000	0.22821	0.247000	0.24249	0.105000	0.19272	0.611000	0.24268	0.903000	0.36546	0.462000	0.41574	AGT		0.443	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		33	36	0	0	0	0.00623	0	33	36				
PRKCG	5582	broad.mit.edu	37	19	54403679	54403679	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54403679C>A	ENST00000263431.3	+	13	1662	c.1380C>A	c.(1378-1380)taC>taA	p.Y460*	PRKCG_ENST00000542049.1_Nonsense_Mutation_p.Y347*|PRKCG_ENST00000540413.1_Nonsense_Mutation_p.Y460*	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	460	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	CCAGGTTCTACGCGGCAGAAA	0.597																																							uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1378-1380)TAC>TAA		protein kinase C, gamma							58.0	60.0	59.0					19																	54403679		2203	4300	6503	SO:0001587	stop_gained	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.chr19:54403679C>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.1380C>A	19.37:g.54403679C>A	ENSP00000263431:p.Tyr460*					PRKCG_uc010yeg.1_Nonsense_Mutation_p.Y460*|PRKCG_uc010yeh.1_Nonsense_Mutation_p.Y347*	p.Y460*	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	13	1662	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		460			Protein kinase.		B7Z8Q0	Nonsense_Mutation	SNP	ENST00000263431.3	37	c.1380C>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296819	0.95574	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	.	.	.	4.02	-2.45	0.06481	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8359	0.13464	0.1415:0.4102:0.0:0.4483	.	.	.	.	X	460;460;347	.	ENSP00000263431:Y460X	Y	+	3	2	PRKCG	59095491	0.010000	0.17322	0.809000	0.32408	0.979000	0.70002	-1.021000	0.03615	-0.437000	0.07243	0.491000	0.48974	TAC		0.597	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		28	15	1	0	5.77227e-19	0.008361	9.83219e-19	28	15				
LILRB2	10288	broad.mit.edu	37	19	54780277	54780277	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54780277C>T	ENST00000391749.4	-	11	1788	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E	LILRB2_ENST00000391746.1_Intron|LILRB2_ENST00000314446.5_Missense_Mutation_p.G505E|LILRB2_ENST00000434421.1_Missense_Mutation_p.G390E|LILRB2_ENST00000391748.1_Missense_Mutation_p.G505E	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	506					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCCACAGCCCCTGCAGGATG	0.622																																							uc002qfb.2		NA																	0				skin(1)	1						c.(1516-1518)GGG>GAG		leukocyte immunoglobulin-like receptor,							21.0	26.0	24.0					19																	54780277		2104	4176	6280	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780277C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1517G>A	19.37:g.54780277C>T	ENSP00000375629:p.Gly506Glu					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Intron|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.G505E|LILRB2_uc010yet.1_Missense_Mutation_p.G390E	p.G506E	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	11	1783	-	Ovarian(34;0.19)		506			Cytoplasmic (Potential).		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1517G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	6.598	0.478730	0.12521	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00551	7.0;7.0;6.95;6.65	1.5	0.416	0.16416	.	.	.	.	.	T	0.00845	0.0028	M	0.79693	2.465	0.09310	N	1	B;P	0.52577	0.055;0.954	B;P	0.45310	0.077;0.476	T	0.47686	-0.9098	9	0.72032	D	0.01	.	3.8704	0.09035	0.0:0.7584:0.0:0.2416	.	522;506	E7EVY1;Q8N423	.;LIRB2_HUMAN	E	505;505;506;390	ENSP00000375628:G505E;ENSP00000319960:G505E;ENSP00000375629:G506E;ENSP00000410117:G390E	ENSP00000319960:G505E	G	-	2	0	LILRB2	59472089	0.015000	0.18098	0.015000	0.15790	0.162000	0.22319	0.419000	0.21247	0.225000	0.20959	0.297000	0.19635	GGG		0.622	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			18	23	0	0	0	0.001882	0	18	23				
LAIR1	3903	broad.mit.edu	37	19	54875929	54875929	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54875929G>T	ENST00000391742.2	-	2	195	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Missense_Mutation_p.L15M|LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000434277.2_Missense_Mutation_p.L15M|LAIR1_ENST00000313038.6_Missense_Mutation_p.L9M|LAIR1_ENST00000348231.4_Missense_Mutation_p.L15M			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	15					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GTCTGGGCCAGGCAGAGCACT	0.612																																							uc002qfk.1		NA																	0				ovary(4)	4						c.(43-45)CTG>ATG		leukocyte-associated immunoglobulin-like							75.0	69.0	71.0					19																	54875929		2203	4298	6501	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54875929G>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.43C>A	19.37:g.54875929G>T	ENSP00000375622:p.Leu15Met					LAIR1_uc002qfl.1_Missense_Mutation_p.L15M|LAIR1_uc002qfm.1_Missense_Mutation_p.L15M|LAIR1_uc002qfn.1_Missense_Mutation_p.L15M|LAIR1_uc010yex.1_Missense_Mutation_p.L9M|LAIR1_uc002qfo.2_Intron	p.L15M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	353	-	Ovarian(34;0.19)		15						Missense_Mutation	SNP	ENST00000391742.2	37	c.43C>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.291520	0.40494	.	.	ENSG00000167613	ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T	0.02121	6.76;6.75;6.81;6.26;6.78;4.44	3.84	-0.955	0.10356	.	0.000000	0.32802	N	0.005634	T	0.11879	0.0289	M	0.93375	3.41	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.916;0.971;0.999	T	0.05886	-1.0858	10	0.87932	D	0	.	3.7679	0.08630	0.3233:0.1853:0.4914:0.0	.	15;15;15;15;15	Q6GTX8-4;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;LAIR1_HUMAN	M	15;15;15;9;15;9	ENSP00000375622:L15M;ENSP00000391003:L15M;ENSP00000301193:L15M;ENSP00000319204:L9M;ENSP00000418998:L15M;ENSP00000392058:L9M	ENSP00000319204:L9M	L	-	1	2	LAIR1	59567741	0.996000	0.38824	0.212000	0.23672	0.760000	0.43138	1.099000	0.31013	-0.150000	0.11195	0.644000	0.83932	CTG		0.612	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			35	45	1	0	1.04594e-18	0.00623	1.77735e-18	35	45				
LAIR2	3904	broad.mit.edu	37	19	55020268	55020268	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55020268C>A	ENST00000301202.2	+	4	510	c.388C>A	c.(388-390)Ccg>Acg	p.P130T	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	130						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCCGGACTCCCCGGACACAGA	0.627																																							uc002qgc.2		NA																	0				ovary(1)	1						c.(388-390)CCG>ACG		leukocyte-associated immunoglobulin-like							36.0	44.0	41.0					19																	55020268		2138	4275	6413	SO:0001583	missense	3904					extracellular region	receptor activity	g.chr19:55020268C>A	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.388C>A	19.37:g.55020268C>A	ENSP00000301202:p.Pro130Thr					LAIR2_uc002qgd.2_Intron|LAIR2_uc010erl.2_Silent_p.P98P	p.P130T	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	4	510	+	Ovarian(34;0.19)		130					Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	c.388C>A	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674053	0.00758	.	.	ENSG00000167618	ENST00000301202	T	0.00537	6.72	1.47	-0.994	0.10225	.	.	.	.	.	T	0.00328	0.0010	N	0.19112	0.55	0.09310	N	1	B	0.30326	0.276	B	0.23275	0.045	T	0.44590	-0.9318	9	0.87932	D	0	.	2.8011	0.05415	0.0:0.4889:0.3014:0.2097	.	130	Q6ISS4	LAIR2_HUMAN	T	130	ENSP00000301202:P130T	ENSP00000301202:P130T	P	+	1	0	LAIR2	59712080	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.721000	0.04963	-0.192000	0.10432	0.205000	0.17691	CCG		0.627	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			26	37	1	0	2.65835e-16	0.007291	4.23906e-16	26	37				
KIR3DL1	3811	broad.mit.edu	37	19	55267590	55267590	+	Intron	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55267590G>A	ENST00000538269.1	+	1	61				CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGGGCCTGGCCACATGAG	0.552																																							uc010yfi.1		NA																	0					0						c.(58-60)TGG>TAG		killer-cell Ig-like receptor																																				SO:0001627	intron_variant	768329							g.chr19:55267590G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+31555G>A	19.37:g.55267590G>A						KIR2DS4_uc010yfj.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	p.W20*	NM_001015070	NP_001015070				GBM - Glioblastoma multiforme(193;0.0192)	2	60	+								O43473|Q14946|Q16541	Nonsense_Mutation	SNP	ENST00000538269.1	37	c.59G>A																																																																																					0.552	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		230	188	0	0	0	0.00361	0	230	188				
KIR3DL1	3811	broad.mit.edu	37	19	55341671	55341671	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55341671A>T	ENST00000391728.4	+	9	1309	c.1276A>T	c.(1276-1278)Atc>Ttc	p.I426F	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.I331F|KIR3DL1_ENST00000402254.2_Intron|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.I426F|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.I409F|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.I409F	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	426					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TACAGATACCATCTTGTACAC	0.517																																							uc002qhk.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1276-1278)ATC>TTC		killer cell immunoglobulin-like receptor, three							276.0	259.0	265.0					19																	55341671		2172	4170	6342	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55341671A>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1276A>T	19.37:g.55341671A>T	ENSP00000375608:p.Ile426Phe					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.I351F|KIR3DL1_uc010esf.2_Missense_Mutation_p.I331F|KIR3DL1_uc010yfo.1_Missense_Mutation_p.I368F|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	p.I426F	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1339	+			426			Cytoplasmic (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1276A>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	7.950	0.744680	0.15710	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00510	6.97;6.93;6.97;6.93;6.9	0.569	0.569	0.17340	.	.	.	.	.	T	0.00552	0.0018	M	0.62723	1.935	0.09310	N	1	B;P;P	0.41159	0.323;0.74;0.577	B;B;B	0.39590	0.212;0.304;0.304	T	0.48222	-0.9054	8	0.87932	D	0	.	.	.	.	.	409;331;426	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	F	426;409;404;426;409;331	ENSP00000443350:I426F;ENSP00000442355:I409F;ENSP00000375608:I426F;ENSP00000326868:I409F;ENSP00000350901:I331F	ENSP00000326868:I409F	I	+	1	0	KIR3DL1	60033483	0.014000	0.17966	0.011000	0.14972	0.010000	0.07245	1.918000	0.40006	0.477000	0.27464	0.155000	0.16302	ATC		0.517	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		243	221	0	0	0	0.00361	0	243	221				
NCR1	9437	broad.mit.edu	37	19	55424185	55424185	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55424185C>A	ENST00000291890.4	+	7	899	c.861C>A	c.(859-861)gcC>gcA	p.A287A	NCR1_ENST00000598576.1_Silent_p.A274A|NCR1_ENST00000447255.1_Silent_p.A286A|NCR1_ENST00000594765.1_Silent_p.A286A|NCR1_ENST00000350790.5_Silent_p.A192A|NCR1_ENST00000357397.5_Silent_p.A180A|NCR1_ENST00000338835.5_Silent_p.A270A	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	287					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAGAGCGAGCCAGCAGAGCTT	0.542																																							uc002qib.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(859-861)GCC>GCA		natural cytotoxicity triggering receptor 1							89.0	68.0	75.0					19																	55424185		2203	4300	6503	SO:0001819	synonymous_variant	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55424185C>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.861C>A	19.37:g.55424185C>A						NCR1_uc002qic.2_Silent_p.A286A|NCR1_uc002qie.2_Silent_p.A270A|NCR1_uc002qid.2_Silent_p.A192A|NCR1_uc002qif.2_Silent_p.A175A|NCR1_uc010esj.2_Silent_p.A180A	p.A287A	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	7	899	+			287			Cytoplasmic (Potential).		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	ENST00000291890.4	37	c.861C>A	CCDS12911.1																																																																																				0.542	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			20	29	1	0	5.35267e-07	0.007413	6.40521e-07	20	29				
TMEM190	147744	broad.mit.edu	37	19	55889205	55889205	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55889205T>A	ENST00000291934.3	+	4	274	c.256T>A	c.(256-258)Tgg>Agg	p.W86R	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	86					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCGCTGGTCTGGACGTGCAG	0.687																																							uc002qkt.1		NA																	0					0						c.(256-258)TGG>AGG		transmembrane protein 190 precursor							50.0	53.0	52.0					19																	55889205		2203	4300	6503	SO:0001583	missense	147744					integral to membrane		g.chr19:55889205T>A	AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.256T>A	19.37:g.55889205T>A	ENSP00000291934:p.Trp86Arg						p.W86R	NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	274	+	Breast(117;0.191)		86			Helical; (Potential).		A6NJL5	Missense_Mutation	SNP	ENST00000291934.3	37	c.256T>A	CCDS33113.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928928	0.34002	.	.	ENSG00000160472	ENST00000291934	.	.	.	3.31	3.31	0.37934	.	0.207411	0.24267	N	0.040035	T	0.52693	0.1750	L	0.27053	0.805	0.35311	D	0.783923	D	0.69078	0.997	P	0.62184	0.899	T	0.64050	-0.6498	9	0.87932	D	0	.	8.224	0.31558	0.0:0.0:0.0:1.0	.	86	Q8WZ59	TM190_HUMAN	R	86	.	ENSP00000291934:W86R	W	+	1	0	TMEM190	60581017	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	1.257000	0.32932	1.521000	0.48983	0.260000	0.18958	TGG		0.687	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		14	44	0	0	0	0.003163	0	14	44				
NLRP4	147945	broad.mit.edu	37	19	56370165	56370165	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:56370165A>T	ENST00000301295.6	+	3	1828	c.1406A>T	c.(1405-1407)cAc>cTc	p.H469L	NLRP4_ENST00000587891.1_Missense_Mutation_p.H394L|NLRP4_ENST00000346986.5_Missense_Mutation_p.H469L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	469	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCAAGAGCCACCTTGATCAT	0.468																																							uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1405-1407)CAC>CTC		NLR family, pyrin domain containing 4							144.0	142.0	143.0					19																	56370165		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370165A>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1406A>T	19.37:g.56370165A>T	ENSP00000301295:p.His469Leu					NLRP4_uc002qmf.2_Missense_Mutation_p.H394L|NLRP4_uc010etf.2_Missense_Mutation_p.H300L	p.H469L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1828	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	469			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1406A>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.493740	0.44352	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83755	-1.76;-1.76	3.9	-3.65	0.04502	.	.	.	.	.	T	0.80539	0.4642	L	0.27053	0.805	0.09310	N	1	P;D;D	0.69078	0.869;0.997;0.995	P;D;P	0.66497	0.563;0.944;0.871	T	0.71224	-0.4656	9	0.27082	T	0.32	.	9.1242	0.36805	0.7045:0.19:0.1055:0.0	.	469;394;469	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	L	469	ENSP00000301295:H469L;ENSP00000344787:H469L	ENSP00000301295:H469L	H	+	2	0	NLRP4	61061977	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.717000	0.01876	-0.338000	0.08413	0.533000	0.62120	CAC		0.468	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		40	97	0	0	0	0.005524	0	40	97				
PEG3	5178	broad.mit.edu	37	19	57335793	57335793	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:57335793C>G	ENST00000326441.9	-	4	594	c.231G>C	c.(229-231)ccG>ccC	p.P77P	PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000593711.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000423103.2_Silent_p.P77P|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000598410.1_5'UTR|PEG3_ENST00000593695.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	77	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)			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)		TGCGGGTCTCCGGCTGCAACC	0.512																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(229-231)CCG>CCC		paternally expressed 3 isoform 1							91.0	89.0	90.0					19																	57335793		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335793C>G	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.231G>C	19.37:g.57335793C>G						ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Silent_p.P77P|PEG3_uc002qnv.2_Silent_p.P77P|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Silent_p.P77P	p.P77P	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	582	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	77			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.231G>C	CCDS12948.1																																																																																				0.512	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			54	12	0	0	0	0.00361	0	54	12				
USP29	57663	broad.mit.edu	37	19	57642182	57642182	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:57642182T>C	ENST00000254181.4	+	4	2593	c.2139T>C	c.(2137-2139)aaT>aaC	p.N713N	USP29_ENST00000598197.1_Silent_p.N713N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	713	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			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)		AGTCCACCAATGGCTTTTATG	0.408																																							uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2137-2139)AAT>AAC		ubiquitin specific peptidase 29							77.0	75.0	76.0					19																	57642182		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642182T>C		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.2139T>C	19.37:g.57642182T>C							p.N713N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2495	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	713						Silent	SNP	ENST00000254181.4	37	c.2139T>C	CCDS33124.1																																																																																				0.408	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			33	3	0	0	0	0.002445	0	33	3				
ZNF530	348327	broad.mit.edu	37	19	58118528	58118528	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58118528G>A	ENST00000332854.6	+	3	1855	c.1635G>A	c.(1633-1635)agG>agA	p.R545R	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTGGAGAAAGGCCTTATGAGT	0.448																																							uc002qpk.2		NA																	0					0						c.(1633-1635)AGG>AGA		zinc finger protein 530							76.0	74.0	74.0					19																	58118528		2203	4300	6503	SO:0001819	synonymous_variant	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58118528G>A	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1635G>A	19.37:g.58118528G>A						ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	p.R545R	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1855	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	545					O43340|Q9P220	Silent	SNP	ENST00000332854.6	37	c.1635G>A	CCDS12955.1																																																																																				0.448	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		21	46	0	0	0	0.002299	0	21	46				
ZNF211	10520	broad.mit.edu	37	19	58146122	58146122	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58146122G>T	ENST00000347302.3	+	2	395	c.216G>T	c.(214-216)ctG>ctT	p.L72L	ZNF211_ENST00000391703.3_Splice_Site_p.L11L|ZNF211_ENST00000541801.1_Splice_Site_p.L11L|ZNF211_ENST00000240731.4_Splice_Site_p.L85L|ZNF211_ENST00000544273.1_Splice_Site_p.L84L|ZNF211_ENST00000254182.7_Splice_Site_p.L11L|ZNF211_ENST00000420680.1_Splice_Site_p.L76L|ZNF211_ENST00000299871.5_Splice_Site_p.L85L	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	72	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)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGTCCTCCCTGGGTAAGGCCC	0.522																																							uc002qpq.2		NA																	0				ovary(2)	2						c.(214-216)CTG>CTT		zinc finger protein 211 isoform 2							230.0	183.0	199.0					19																	58146122		2203	4300	6503	SO:0001630	splice_region_variant	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58146122G>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.217+1G>T	19.37:g.58146122G>T						ZNF211_uc010yhb.1_Silent_p.L76L|ZNF211_uc002qpp.2_Silent_p.L85L|ZNF211_uc002qpr.2_Silent_p.L84L|ZNF211_uc002qps.2_Silent_p.L85L|ZNF211_uc002qpt.2_Silent_p.L84L|ZNF211_uc010yhc.1_Silent_p.L84L|ZNF211_uc010yhd.1_Silent_p.L11L|ZNF211_uc010yhe.1_Silent_p.L11L	p.L72L	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	396	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	72			KRAB.		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Silent	SNP	ENST00000347302.3	37	c.216G>T	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523299	0.27299	.	.	ENSG00000121417	ENST00000407202	.	.	.	2.88	0.505	0.16953	.	.	.	.	.	T	0.50786	0.1636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36187	-0.9758	4	.	.	.	.	4.8958	0.13749	0.1263:0.0:0.6643:0.2093	.	.	.	.	W	76	.	.	G	+	1	0	ZNF211	62837934	0.732000	0.28121	0.670000	0.29842	0.907000	0.53573	-0.009000	0.12765	0.081000	0.16988	0.313000	0.20887	GGG		0.522	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1		Silent	40	48	1	0	4.00102e-26	0.00623	7.56633e-26	40	48				
ZSCAN4	201516	broad.mit.edu	37	19	58189661	58189661	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58189661T>A	ENST00000318203.5	+	5	1387	c.690T>A	c.(688-690)ccT>ccA	p.P230P		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	230					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCCTAGGCCTGAAGAGGGAG	0.413																																							uc002qpu.2		NA																	0				ovary(1)	1						c.(688-690)CCT>CCA		zinc finger and SCAN domain containing 4							72.0	68.0	70.0					19																	58189661		2203	4300	6503	SO:0001819	synonymous_variant	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58189661T>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.690T>A	19.37:g.58189661T>A							p.P230P	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1387	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	230					Q3MIQ2	Silent	SNP	ENST00000318203.5	37	c.690T>A	CCDS12958.1																																																																																				0.413	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		19	35	0	0	0	0.010504	0	19	35				
ZSCAN4	201516	broad.mit.edu	37	19	58190161	58190161	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58190161C>A	ENST00000318203.5	+	5	1887	c.1190C>A	c.(1189-1191)aCa>aAa	p.T397K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	397					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCCTTATACATGTCCCTTT	0.473																																							uc002qpu.2		NA																	0				ovary(1)	1						c.(1189-1191)ACA>AAA		zinc finger and SCAN domain containing 4							109.0	117.0	114.0					19																	58190161		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58190161C>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1190C>A	19.37:g.58190161C>A	ENSP00000321963:p.Thr397Lys						p.T397K	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1887	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	397			C2H2-type 4.		Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.1190C>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	0.946	-0.707941	0.03230	.	.	ENSG00000180532	ENST00000318203	T	0.16597	2.33	4.88	-9.76	0.00503	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	3.044690	0.00744	N	0.001032	T	0.03915	0.0110	N	0.01800	-0.715	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.26467	-1.0102	10	0.06365	T	0.9	5.7795	2.4707	0.04563	0.2549:0.4227:0.0813:0.241	.	397	Q8NAM6	ZSCA4_HUMAN	K	397	ENSP00000321963:T397K	ENSP00000321963:T397K	T	+	2	0	ZSCAN4	62881973	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.831000	0.00096	-2.138000	0.00808	-0.142000	0.14014	ACA		0.473	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		94	84	1	0	2.68873e-43	0.00361	5.63052e-43	94	84				
ZNF776	284309	broad.mit.edu	37	19	58262153	58262153	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:58262153G>T	ENST00000317178.5	+	2	297	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	AC003006.7_ENST00000594684.1_Splice_Site_p.G12C|ZNF776_ENST00000431353.1_Splice_Site_p.G12C	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATCACGGCAGGGCACTGTGAC	0.493																																							uc002qpx.2		NA																	0				ovary(1)	1						c.(34-36)GGC>TGC		zinc finger protein 776							223.0	171.0	186.0					19																	58262153		692	1591	2283	SO:0001630	splice_region_variant	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58262153G>T	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.34-1G>T	19.37:g.58262153G>T						ZNF587_uc002qqb.2_5'UTR|ZNF776_uc002qqa.2_Missense_Mutation_p.G12C	p.G12C	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	2	257	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	12					Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.34G>T	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812444	0.32053	.	.	ENSG00000152443	ENST00000317178;ENST00000431353	T;T	0.00958	5.5;5.5	1.5	1.5	0.22942	Krueppel-associated box (1);	.	.	.	.	T	0.05914	0.0154	M	0.92507	3.315	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.936	T	0.10660	-1.0620	8	.	.	.	.	6.4096	0.21684	0.0:0.0:1.0:0.0	.	12;12	Q68DI1;B4DSC6	ZN776_HUMAN;.	C	12	ENSP00000321812:G12C;ENSP00000405772:G12C	.	G	+	1	0	ZNF776	62953965	0.964000	0.33143	0.125000	0.21846	0.730000	0.41778	1.734000	0.38166	1.151000	0.42436	0.313000	0.20887	GGC		0.493	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632	Missense_Mutation	41	79	1	0	5.44703e-19	0.009718	9.2893e-19	41	79				
SNTG2	54221	broad.mit.edu	37	2	1251116	1251116	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:1251116G>T	ENST00000308624.5	+	12	1035	c.906G>T	c.(904-906)tgG>tgT	p.W302C	SNTG2_ENST00000407292.1_Missense_Mutation_p.W175C	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	302	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATATGGGGTGGGTAAATGAGA	0.502																																							uc002qwq.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(904-906)TGG>TGT		syntrophin, gamma 2							55.0	58.0	57.0					2																	1251116		2024	4185	6209	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1251116G>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.906G>T	2.37:g.1251116G>T	ENSP00000311837:p.Trp302Cys					SNTG2_uc010ewi.2_Missense_Mutation_p.W175C	p.W302C	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	12	1034	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	302			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.906G>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589661	0.46214	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;D	0.89485	1.33;-2.52	5.23	5.23	0.72850	Pleckstrin homology domain (1);	0.063498	0.64402	D	0.000002	D	0.94650	0.8275	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95246	0.8355	10	0.87932	D	0	.	17.5669	0.87922	0.0:0.0:1.0:0.0	.	175;302	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	C	302;175	ENSP00000311837:W302C;ENSP00000385020:W175C	ENSP00000311837:W302C	W	+	3	0	SNTG2	1233667	1.000000	0.71417	0.998000	0.56505	0.245000	0.25701	7.282000	0.78630	2.429000	0.82318	0.650000	0.86243	TGG		0.502	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		8	14	1	0	1.06961e-07	0.00308	1.31304e-07	8	14				
PXDN	7837	broad.mit.edu	37	2	1652140	1652140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:1652140C>A	ENST00000252804.4	-	17	3462	c.3412G>T	c.(3412-3414)Gag>Tag	p.E1138*		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1138					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCCGTGAGCTCCGTGTTCAGC	0.652																																							uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(3412-3414)GAG>TAG		peroxidasin precursor							47.0	57.0	54.0					2																	1652140		2064	4220	6284	SO:0001587	stop_gained	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652140C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3412G>T	2.37:g.1652140C>A	ENSP00000252804:p.Glu1138*						p.E1138*	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3476	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1138					A8QM65|D6W4Y0|Q4KMG2	Nonsense_Mutation	SNP	ENST00000252804.4	37	c.3412G>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	42	9.664424	0.99233	.	.	ENSG00000130508	ENST00000252804	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-51.5702	19.6424	0.95763	0.0:1.0:0.0:0.0	.	.	.	.	X	1138	.	ENSP00000252804:E1138X	E	-	1	0	PXDN	1631147	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	7.734000	0.84928	2.645000	0.89757	0.650000	0.86243	GAG		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		20	22	1	0	4.63292e-17	0.008871	7.55702e-17	20	22				
MYT1L	23040	broad.mit.edu	37	2	1926727	1926727	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:1926727G>T	ENST00000399161.2	-	10	1561	c.814C>A	c.(814-816)Cac>Aac	p.H272N	MYT1L_ENST00000428368.2_Missense_Mutation_p.H272N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	272					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)			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)		ACAACACCGTGTCCTTGGGCT	0.423																																							uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(814-816)CAC>AAC		myelin transcription factor 1-like							196.0	190.0	192.0					2																	1926727		1972	4160	6132	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926727G>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.814C>A	2.37:g.1926727G>T	ENSP00000382114:p.His272Asn					MYT1L_uc002qxd.2_Missense_Mutation_p.H272N|MYT1L_uc010ewl.1_RNA	p.H272N	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1641	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	272					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.814C>A		.	.	.	.	.	.	.	.	.	.	G	14.62	2.588412	0.46110	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.56275	0.47;0.47	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	L	0.34521	1.04	0.80722	D	1	B;D	0.71674	0.115;0.998	B;D	0.78314	0.056;0.991	T	0.55679	-0.8103	10	0.25751	T	0.34	-41.9674	20.6439	0.99570	0.0:0.0:1.0:0.0	.	272;272	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	272;220;272	ENSP00000382114:H272N;ENSP00000396103:H272N	ENSP00000295067:H220N	H	-	1	0	MYT1L	1905734	1.000000	0.71417	0.268000	0.24571	0.205000	0.24178	7.769000	0.85360	2.884000	0.98904	0.655000	0.94253	CAC		0.423	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		57	82	1	0	1.59911e-31	0.00361	3.1848e-31	57	82				
KCNF1	3754	broad.mit.edu	37	2	11053962	11053962	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11053962C>G	ENST00000295082.1	+	1	1900	c.1410C>G	c.(1408-1410)ctC>ctG	p.L470L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	470					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)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGCTGAAGCTCTCCCACAGCG	0.677																																							uc002rax.2		NA																	0				ovary(1)	1						c.(1408-1410)CTC>CTG		potassium voltage-gated channel, subfamily F,							20.0	25.0	24.0					2																	11053962		2196	4283	6479	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053962C>G	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1410C>G	2.37:g.11053962C>G							p.L470L	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1900	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		470			Cytoplasmic (Potential).		O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.1410C>G	CCDS1676.1																																																																																				0.677	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		9	21	0	0	0	0.004482	0	9	21				
KCNF1	3754	broad.mit.edu	37	2	11053984	11053984	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11053984C>T	ENST00000295082.1	+	1	1922	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	478					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)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CACCTTCATCCCCCTCCTGAC	0.662																																							uc002rax.2		NA																	0				ovary(1)	1						c.(1432-1434)CCC>TCC		potassium voltage-gated channel, subfamily F,							22.0	28.0	26.0					2																	11053984		2189	4273	6462	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053984C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1432C>T	2.37:g.11053984C>T	ENSP00000295082:p.Pro478Ser						p.P478S	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1922	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		478			Cytoplasmic (Potential).		O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.1432C>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500830	0.44455	.	.	ENSG00000162975	ENST00000295082	D	0.97924	-4.61	5.35	5.35	0.76521	.	0.175042	0.37219	N	0.002199	D	0.93032	0.7782	N	0.08118	0	0.45607	D	0.998545	B	0.27498	0.18	B	0.25405	0.06	D	0.90597	0.4541	10	0.15499	T	0.54	.	19.4376	0.94804	0.0:1.0:0.0:0.0	.	478	Q9H3M0	KCNF1_HUMAN	S	478	ENSP00000295082:P478S	ENSP00000295082:P478S	P	+	1	0	KCNF1	10971435	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.256000	0.78350	2.660000	0.90430	0.467000	0.42956	CCC		0.662	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		7	20	0	0	0	0.001984	0	7	20				
GREB1	9687	broad.mit.edu	37	2	11716613	11716613	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11716613G>T	ENST00000381486.2	+	5	889	c.589G>T	c.(589-591)Gca>Tca	p.A197S	GREB1_ENST00000381483.2_Missense_Mutation_p.A197S|GREB1_ENST00000263834.5_Missense_Mutation_p.A197S|GREB1_ENST00000389825.3_Missense_Mutation_p.A87S|GREB1_ENST00000234142.5_Missense_Mutation_p.A197S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	197						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGTCCGTAATGCACAAGGGAC	0.483																																					Ovarian(39;850 945 2785 23371 33093)	Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(589-591)GCA>TCA		growth regulation by estrogen in breast cancer 1							125.0	118.0	121.0					2																	11716613		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11716613G>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.589G>T	2.37:g.11716613G>T	ENSP00000370896:p.Ala197Ser					GREB1_uc002rbl.2_Missense_Mutation_p.A197S|GREB1_uc002rbm.2_Missense_Mutation_p.A87S|GREB1_uc002rbn.1_Missense_Mutation_p.A197S	p.A197S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	5	889	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		197					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.589G>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650710	0.29336	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;D;D;D;T	0.82081	3.37;-1.57;-1.57;-1.57;3.37	5.08	5.08	0.68730	.	0.354848	0.30455	N	0.009595	T	0.76219	0.3957	N	0.25380	0.74	0.54753	D	0.999987	P;B;P;D	0.56287	0.825;0.36;0.688;0.975	P;B;B;P	0.47470	0.548;0.112;0.299;0.487	T	0.73382	-0.4000	10	0.02654	T	1	-11.3631	18.654	0.91441	0.0:0.0:1.0:0.0	.	197;87;197;197	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	S	197;197;87;197;197	ENSP00000370896:A197S;ENSP00000263834:A197S;ENSP00000374475:A87S;ENSP00000370892:A197S;ENSP00000234142:A197S	ENSP00000234142:A197S	A	+	1	0	GREB1	11634064	1.000000	0.71417	0.143000	0.22291	0.869000	0.49853	5.183000	0.65065	2.640000	0.89533	0.655000	0.94253	GCA		0.483	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		34	43	1	0	2.09667e-21	0.003755	3.73674e-21	34	43				
GREB1	9687	broad.mit.edu	37	2	11738826	11738826	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11738826C>G	ENST00000381486.2	+	15	2473	c.2173C>G	c.(2173-2175)Ctg>Gtg	p.L725V	GREB1_ENST00000234142.5_Missense_Mutation_p.L725V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	725						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGAGCTTGGTCTGAAGAAAGA	0.463																																					Ovarian(39;850 945 2785 23371 33093)	Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(2173-2175)CTG>GTG		growth regulation by estrogen in breast cancer 1							187.0	194.0	192.0					2																	11738826		2014	4186	6200	SO:0001583	missense	9687					integral to membrane		g.chr2:11738826C>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2173C>G	2.37:g.11738826C>G	ENSP00000370896:p.Leu725Val					GREB1_uc002rbo.1_Missense_Mutation_p.L359V	p.L725V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	15	2473	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		725					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.2173C>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	6.559	0.471517	0.12461	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.50001	3.09;3.09;0.76	5.16	0.218	0.15270	.	0.119527	0.40640	N	0.001050	T	0.48333	0.1494	L	0.31476	0.935	0.45295	D	0.998293	B;D	0.71674	0.141;0.998	B;D	0.83275	0.067;0.996	T	0.42716	-0.9435	10	0.54805	T	0.06	-14.0989	5.5201	0.16927	0.0:0.2674:0.1501:0.5824	.	359;725	C9JIG0;Q4ZG55	.;GREB1_HUMAN	V	725;725;359	ENSP00000370896:L725V;ENSP00000234142:L725V;ENSP00000403886:L359V	ENSP00000234142:L725V	L	+	1	2	GREB1	11656277	0.379000	0.25123	0.860000	0.33809	0.027000	0.11550	0.369000	0.20416	0.156000	0.19299	-0.140000	0.14226	CTG		0.463	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		34	50	0	0	0	0.004289	0	34	50				
GREB1	9687	broad.mit.edu	37	2	11780520	11780520	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:11780520C>G	ENST00000381486.2	+	33	6090	c.5790C>G	c.(5788-5790)ttC>ttG	p.F1930L	GREB1_ENST00000396123.1_Missense_Mutation_p.F928L|GREB1_ENST00000234142.5_Missense_Mutation_p.F1930L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1930						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCGATGAGTTCCAGACCGCCA	0.602																																					Ovarian(39;850 945 2785 23371 33093)	Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(5788-5790)TTC>TTG		growth regulation by estrogen in breast cancer 1							55.0	65.0	62.0					2																	11780520		2001	4153	6154	SO:0001583	missense	9687					integral to membrane		g.chr2:11780520C>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5790C>G	2.37:g.11780520C>G	ENSP00000370896:p.Phe1930Leu					GREB1_uc002rbp.1_Missense_Mutation_p.F928L	p.F1930L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	33	6090	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1930					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.5790C>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959791	0.92791	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.33865	2.71;2.71;1.39	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	M	0.73217	2.22	0.80722	D	1	P	0.47604	0.898	D	0.64144	0.922	T	0.62623	-0.6815	10	0.59425	D	0.04	-35.2889	18.3628	0.90380	0.0:1.0:0.0:0.0	.	1930	Q4ZG55	GREB1_HUMAN	L	1930;1930;928	ENSP00000370896:F1930L;ENSP00000234142:F1930L;ENSP00000379429:F928L	ENSP00000234142:F1930L	F	+	3	2	GREB1	11697971	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.177000	0.42509	2.316000	0.78162	0.563000	0.77884	TTC		0.602	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		20	43	0	0	0	0.001882	0	20	43				
NBAS	51594	broad.mit.edu	37	2	15359018	15359018	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:15359018C>A	ENST00000281513.5	-	48	6336	c.6311G>T	c.(6310-6312)cGg>cTg	p.R2104L	NBAS_ENST00000441750.1_Missense_Mutation_p.R1984L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2104					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATGCGGGGCCGCACCGGCCA	0.552																																							uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(6310-6312)CGG>CTG		neuroblastoma-amplified protein							52.0	56.0	55.0					2																	15359018		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15359018C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6311G>T	2.37:g.15359018C>A	ENSP00000281513:p.Arg2104Leu					NBAS_uc002rcb.1_Intron|NBAS_uc010exl.1_Missense_Mutation_p.R1176L|NBAS_uc002rcd.1_Intron	p.R2104L	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			48	6337	-			2104					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6311G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.16|16.16	3.045746|3.045746	0.55110|0.55110	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513	.|T;T	.|0.10573	.|2.86;3.04	5.63|5.63	2.45|2.45	0.29901|0.29901	.|.	.|0.372339	.|0.30277	.|N	.|0.009985	T|T	0.08133|0.08133	0.0203|0.0203	L|L	0.50333|0.50333	1.59|1.59	0.42253|0.42253	D|D	0.991982|0.991982	.|B;B	.|0.34181	.|0.44;0.005	.|B;B	.|0.28011	.|0.085;0.004	T|T	0.21042|0.21042	-1.0257|-1.0257	5|10	.|0.87932	.|D	.|0	.|.	2.7644|2.7644	0.05316|0.05316	0.0:0.3968:0.2423:0.3609|0.0:0.3968:0.2423:0.3609	.|.	.|1984;2104	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	C|L	1152|1984;2104	.|ENSP00000413201:R1984L;ENSP00000281513:R2104L	.|ENSP00000281513:R2104L	G|R	-|-	1|2	0|0	NBAS|NBAS	15276469|15276469	0.994000|0.994000	0.37717|0.37717	0.572000|0.572000	0.28498|0.28498	0.981000|0.981000	0.71138|0.71138	1.997000|1.997000	0.40786|0.40786	0.725000|0.725000	0.32318|0.32318	0.591000|0.591000	0.81541|0.81541	GGC|CGG		0.552	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		20	34	1	0	5.35356e-11	0.00278	7.37993e-11	20	34				
NT5C1B	93034	broad.mit.edu	37	2	18767604	18767604	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:18767604G>T	ENST00000359846.2	-	4	431	c.354C>A	c.(352-354)cgC>cgA	p.R118R	NT5C1B_ENST00000600945.1_Silent_p.R118R|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R118R|NT5C1B_ENST00000460052.1_5'UTR|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Silent_p.R58R	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	118	Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ACCATTGACTGCGCACAAGGT	0.498																																							uc002rcz.2		NA																	0				skin(2)|ovary(1)	3						c.(352-354)CGC>CGA		5' nucleotidase, cytosolic IB isoform 1							155.0	136.0	143.0					2																	18767604		2203	4300	6503	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18767604G>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.354C>A	2.37:g.18767604G>T						NT5C1B_uc002rcy.2_Silent_p.R118R|NT5C1B_uc010exr.2_Silent_p.R58R|NT5C1B_uc010yju.1_Silent_p.R58R|NT5C1B_uc002rda.2_Silent_p.R58R|NT5C1B_uc010yjv.1_Silent_p.R135R|NT5C1B_uc010yjw.1_Silent_p.R101R|NT5C1B_uc010exs.2_Silent_p.R118R|NT5C1B_uc002rdb.1_5'Flank	p.R118R	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			4	458	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	118			Ser-rich.		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.354C>A	CCDS33150.1																																																																																				0.498	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			48	7	1	0	2.24722e-20	0.00361	3.93609e-20	48	7				
C2orf16	84226	broad.mit.edu	37	2	27801652	27801652	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:27801652C>T	ENST00000408964.2	+	1	2264	c.2213C>T	c.(2212-2214)aCa>aTa	p.T738I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	738						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCTTCAACCACACTCATTTCA	0.438																																							uc002rkz.3		NA																	0				large_intestine(1)	1						c.(2212-2214)ACA>ATA		hypothetical protein LOC84226							91.0	88.0	89.0					2																	27801652		1874	4101	5975	SO:0001583	missense	84226							g.chr2:27801652C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2213C>T	2.37:g.27801652C>T	ENSP00000386190:p.Thr738Ile						p.T738I	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	2264	+	Acute lymphoblastic leukemia(172;0.155)		738					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2213C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549412	0.27652	.	.	ENSG00000221843	ENST00000408964	T	0.06849	3.25	5.66	2.71	0.32032	.	.	.	.	.	T	0.05686	0.0149	N	0.19112	0.55	0.09310	N	1	B	0.33477	0.413	B	0.31495	0.131	T	0.33033	-0.9884	9	0.72032	D	0.01	.	7.1335	0.25515	0.3029:0.6131:0.0:0.084	.	738	Q68DN1	CB016_HUMAN	I	738	ENSP00000386190:T738I	ENSP00000386190:T738I	T	+	2	0	C2orf16	27655156	0.000000	0.05858	0.002000	0.10522	0.122000	0.20287	0.272000	0.18644	1.366000	0.46076	0.561000	0.74099	ACA		0.438	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		24	44	0	0	0	0.00333	0	24	44				
PLB1	151056	broad.mit.edu	37	2	28855821	28855821	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:28855821C>A	ENST00000327757.5	+	56	4057	c.4013C>A	c.(4012-4014)aCt>aAt	p.T1338N	PLB1_ENST00000541605.1_Missense_Mutation_p.T303N|PLB1_ENST00000422425.2_Missense_Mutation_p.T1327N|AC074011.2_ENST00000431376.1_RNA	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1338	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)			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)					AGAGGGGACACTGACCTCACC	0.587																																							uc002rmb.1		NA																	0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(4012-4014)ACT>AAT		phospholipase B1 precursor							155.0	147.0	150.0					2																	28855821		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.chr2:28855821C>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.4013C>A	2.37:g.28855821C>A	ENSP00000330442:p.Thr1338Asn					PLB1_uc010ezj.1_Missense_Mutation_p.T1327N|PLB1_uc002rme.1_Missense_Mutation_p.T303N|PLB1_uc002rmf.1_RNA	p.T1338N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			56	4013	+	Acute lymphoblastic leukemia(172;0.155)		1338			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.4013C>A	CCDS33168.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.74|16.74|16.74	3.205659|3.205659|3.205659	0.58234|0.58234|0.58234	.|.|.	.|.|.	ENSG00000163803|ENSG00000163803|ENSG00000163803	ENST00000436775|ENST00000404858|ENST00000327757;ENST00000422425;ENST00000541605	.|.|T;T;T	.|.|0.47177	.|.|0.85;0.85;0.85	5.77|5.77|5.77	3.28|3.28|3.28	0.37604|0.37604|0.37604	.|.|Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	.|.|1.152430	.|.|0.06467	.|.|N	.|.|0.730435	T|T|T	0.49440|0.49440|0.49440	0.1557|0.1557|0.1557	M|M|M	0.74467|0.74467|0.74467	2.265|2.265|2.265	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|B;P	.|.|0.37594	.|.|0.404;0.601	.|.|B;B	.|.|0.39119	.|.|0.195;0.291	T|T|T	0.33369|0.33369|0.33369	-0.9871|-0.9871|-0.9871	5|5|10	.|.|0.27082	.|.|T	.|.|0.32	0.012|0.012|0.012	6.4293|6.4293|6.4293	0.21788|0.21788|0.21788	0.0:0.6789:0.0:0.3211|0.0:0.6789:0.0:0.3211|0.0:0.6789:0.0:0.3211	.|.|.	.|.|1327;1338	.|.|Q6P1J6-3;Q6P1J6	.|.|.;PLB1_HUMAN	Q|M|N	65|1326|1338;1327;303	.|.|ENSP00000330442:T1338N;ENSP00000416440:T1327N;ENSP00000437426:T303N	.|.|ENSP00000330442:T1338N	H|L|T	+|+|+	3|1|2	2|2|0	PLB1|PLB1|PLB1	28709325|28709325|28709325	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.750000|0.750000|0.750000	0.42670|0.42670|0.42670	0.280000|0.280000|0.280000	0.18790|0.18790|0.18790	0.377000|0.377000|0.377000	0.24735|0.24735|0.24735	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	CAC|CTG|ACT		0.587	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			12	25	1	0	6.31663e-08	0.003163	7.81484e-08	12	25				
WDR43	23160	broad.mit.edu	37	2	29164364	29164364	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:29164364A>T	ENST00000407426.3	+	15	1714	c.1658A>T	c.(1657-1659)cAg>cTg	p.Q553L		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	553						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACACTCTACCAGTTAATGGAA	0.388																																							uc002rmo.2		NA																	0				ovary(1)	1						c.(1657-1659)CAG>CTG		WD repeat domain 43							86.0	80.0	82.0					2																	29164364		1868	4088	5956	SO:0001583	missense	23160					nucleolus		g.chr2:29164364A>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1658A>T	2.37:g.29164364A>T	ENSP00000384302:p.Gln553Leu						p.Q553L	NM_015131	NP_055946	Q15061	WDR43_HUMAN			15	1690	+	Acute lymphoblastic leukemia(172;0.155)		553					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1658A>T	CCDS46251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.589405|4.589405	0.86851|0.86851	.|.	.|.	ENSG00000163811|ENSG00000163811	ENST00000407426|ENST00000446643	T|.	0.66099|.	-0.19|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.113092|.	0.64402|.	D|.	0.000006|.	T|T	0.76212|0.76212	0.3956|0.3956	M|M	0.78801|0.78801	2.425|2.425	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.59357|.	0.985|.	P|.	0.55749|.	0.783|.	T|T	0.77321|0.77321	-0.2631|-0.2631	10|5	0.38643|.	T|.	0.18|.	-13.273|-13.273	15.9198|15.9198	0.79552|0.79552	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	553|.	Q15061|.	WDR43_HUMAN|.	L|C	553|105	ENSP00000384302:Q553L|.	ENSP00000384302:Q553L|.	Q|S	+|+	2|1	0|0	WDR43|WDR43	29017868|29017868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.092000|7.092000	0.76930|0.76930	2.222000|2.222000	0.72286|0.72286	0.454000|0.454000	0.30748|0.30748	CAG|AGT		0.388	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		12	7	0	0	0	0.001368	0	12	7				
ALK	238	broad.mit.edu	37	2	30143132	30143132	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:30143132C>A	ENST00000389048.3	-	1	1300	c.394G>T	c.(394-396)Gtg>Ttg	p.V132L	ALK_ENST00000431873.1_Missense_Mutation_p.V132L	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	132					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGCTTGCGCACGGAGCCGCCC	0.741			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(394-396)GTG>TTG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						7.0	9.0	8.0					2																	30143132		2166	4245	6411	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.chr2:30143132C>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.394G>T	2.37:g.30143132C>A	ENSP00000373700:p.Val132Leu						p.V132L	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			1	1301	-	Acute lymphoblastic leukemia(172;0.155)		132			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.394G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043892	0.55110	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.80123	-1.34;2.66	5.33	1.59	0.23543	.	.	.	.	.	T	0.63604	0.2525	N	0.24115	0.695	0.28232	N	0.926074	B	0.06786	0.001	B	0.08055	0.003	T	0.48317	-0.9046	8	.	.	.	.	5.0475	0.14492	0.0:0.5403:0.1412:0.3185	.	132	Q9UM73	ALK_HUMAN	L	132	ENSP00000373700:V132L;ENSP00000414027:V132L	.	V	-	1	0	ALK	29996636	0.155000	0.22806	0.896000	0.35187	0.980000	0.70556	0.700000	0.25601	0.079000	0.16929	0.655000	0.94253	GTG		0.741	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	1	1	0	0.00909568	0.009096	0.0094611	4	1				
NLRC4	58484	broad.mit.edu	37	2	32476135	32476135	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:32476135C>G	ENST00000404025.2	-	5	1286	c.798G>C	c.(796-798)aaG>aaC	p.K266N	NLRC4_ENST00000360906.5_Missense_Mutation_p.K266N|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.K266N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	266	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTGGTTTTCCTTTATCAGGG	0.527																																							uc002roi.2		NA																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(796-798)AAG>AAC		caspase recruitment domain protein 12							130.0	112.0	118.0					2																	32476135		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476135C>G	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.798G>C	2.37:g.32476135C>G	ENSP00000385090:p.Lys266Asn					NLRC4_uc002roj.1_Missense_Mutation_p.K266N|NLRC4_uc010ezt.1_Intron	p.K266N	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	1044	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		266			LRR 2.|NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.798G>C	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834553	0.50951	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.21191	2.02;2.02;2.02	3.27	3.27	0.37495	.	0.000000	0.49916	D	0.000138	T	0.31482	0.0798	L	0.44542	1.39	0.34300	D	0.684274	D	0.76494	0.999	D	0.83275	0.996	T	0.31916	-0.9926	9	0.26408	T	0.33	-15.1835	7.9784	0.30168	0.0:0.8796:0.0:0.1204	.	266	Q9NPP4	NLRC4_HUMAN	N	266	ENSP00000354159:K266N;ENSP00000385428:K266N;ENSP00000385090:K266N	ENSP00000354159:K266N	K	-	3	2	NLRC4	32329639	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.196000	0.32198	1.836000	0.53414	0.543000	0.68304	AAG		0.527	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		45	41	0	0	0	0.00361	0	45	41				
BIRC6	57448	broad.mit.edu	37	2	32673862	32673862	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:32673862G>T	ENST00000421745.2	+	22	4618		c.e22-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTTTTCAGATATGGATTA	0.348																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.e22-1		baculoviral IAP repeat-containing 6							96.0	101.0	100.0					2																	32673862		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32673862G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4485-1G>T	2.37:g.32673862G>T							p.R1495_splice	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			22	4619	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37	c.4485_splice	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476991	0.84640	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32527366	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	.		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	23	8	1	0	3.83957e-06	0.00278	4.47793e-06	23	8				
LTBP1	4052	broad.mit.edu	37	2	33585793	33585793	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:33585793G>T	ENST00000404816.2	+	27	4483	c.4130G>T	c.(4129-4131)gGc>gTc	p.G1377V	LTBP1_ENST00000390003.4_Missense_Mutation_p.G1052V|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1378V|LTBP1_ENST00000418533.2_Missense_Mutation_p.G1009V|LTBP1_ENST00000407925.1_Missense_Mutation_p.G1051V|LTBP1_ENST00000272273.5_Missense_Mutation_p.G275V|LTBP1_ENST00000404525.1_Missense_Mutation_p.G998V|LTBP1_ENST00000402934.1_Missense_Mutation_p.G996V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1377	TB 3.				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)			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)				TGTACATCAGGCGTGGGATGG	0.473																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(4132-4134)GGC>GTC		latent transforming growth factor beta binding							118.0	107.0	111.0					2																	33585793		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.chr2:33585793G>T		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.4130G>T	2.37:g.33585793G>T	ENSP00000386043:p.Gly1377Val					LTBP1_uc002rot.2_Missense_Mutation_p.G1052V|LTBP1_uc002rou.2_Missense_Mutation_p.G1051V|LTBP1_uc002rov.2_Missense_Mutation_p.G998V|LTBP1_uc010ymz.1_Missense_Mutation_p.G1009V|LTBP1_uc010yna.1_Missense_Mutation_p.G956V|LTBP1_uc010ynb.1_Missense_Mutation_p.G275V	p.G1378V	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			27	4133	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1377			TB 3.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4133G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070957	0.55646	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;D;D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	5.03	5.03	0.67393	Matrix fibril-associated (3);TGF-beta binding (1);	.	.	.	.	D	0.98845	0.9610	M	0.92412	3.305	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99719	1.1009	9	0.87932	D	0	.	18.7345	0.91749	0.0:0.0:1.0:0.0	.	275;1377;1009;998;1051;1052;1378	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	V	1377;1378;1052;1009;996;998;1051;275;213	ENSP00000386043:G1377V;ENSP00000346467:G1378V;ENSP00000374653:G1052V;ENSP00000393057:G1009V;ENSP00000384373:G996V;ENSP00000385359:G998V;ENSP00000384091:G1051V;ENSP00000272273:G275V;ENSP00000395211:G213V	ENSP00000272273:G275V	G	+	2	0	LTBP1	33439297	1.000000	0.71417	0.088000	0.20740	0.007000	0.05969	9.743000	0.98849	2.482000	0.83794	0.563000	0.77884	GGC		0.473	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		21	39	1	0	2.54575e-18	0.010504	4.28504e-18	21	39				
LTBP1	4052	broad.mit.edu	37	2	33614329	33614329	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:33614329G>T	ENST00000404816.2	+	32	5143	c.4790G>T	c.(4789-4791)aGt>aTt	p.S1597I	LTBP1_ENST00000390003.4_Missense_Mutation_p.S1272I|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1598I|LTBP1_ENST00000418533.2_Missense_Mutation_p.S1229I|LTBP1_ENST00000407925.1_Missense_Mutation_p.S1271I|LTBP1_ENST00000272273.5_Missense_Mutation_p.S495I|LTBP1_ENST00000404525.1_Missense_Mutation_p.S1218I|LTBP1_ENST00000402934.1_Missense_Mutation_p.S1216I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1597					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)			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)				GTTGACTTCAGTGAACAGTAT	0.473																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(4792-4794)AGT>ATT		latent transforming growth factor beta binding							135.0	121.0	126.0					2																	33614329		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.chr2:33614329G>T		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.4790G>T	2.37:g.33614329G>T	ENSP00000386043:p.Ser1597Ile					LTBP1_uc002rot.2_Missense_Mutation_p.S1272I|LTBP1_uc002rou.2_Missense_Mutation_p.S1271I|LTBP1_uc002rov.2_Missense_Mutation_p.S1218I|LTBP1_uc010ymz.1_Missense_Mutation_p.S1229I|LTBP1_uc010yna.1_Missense_Mutation_p.S1176I|LTBP1_uc010ynb.1_Missense_Mutation_p.S495I	p.S1598I	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			32	4793	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1597					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4793G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	7.688	0.690432	0.15039	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	T;T;T;T;T;T;T;D	0.84589	-1.43;-1.42;-1.37;-1.32;-1.34;-1.33;-1.33;-1.87	5.16	0.00141	0.14046	Matrix fibril-associated (1);	.	.	.	.	T	0.66297	0.2775	N	0.08118	0	0.22142	N	0.999336	B;B;P;B;B;P;P	0.43519	0.002;0.259;0.528;0.007;0.376;0.809;0.547	B;B;B;B;B;B;B	0.41299	0.003;0.081;0.101;0.009;0.109;0.286;0.353	T	0.58797	-0.7573	9	0.25106	T	0.35	.	4.1726	0.10336	0.496:0.1842:0.3198:0.0	.	495;1597;1229;1218;1271;1272;1598	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	I	1597;1598;1272;1229;1216;1218;1271;495	ENSP00000386043:S1597I;ENSP00000346467:S1598I;ENSP00000374653:S1272I;ENSP00000393057:S1229I;ENSP00000384373:S1216I;ENSP00000385359:S1218I;ENSP00000384091:S1271I;ENSP00000272273:S495I	ENSP00000272273:S495I	S	+	2	0	LTBP1	33467833	0.964000	0.33143	0.763000	0.31416	0.357000	0.29423	2.380000	0.44327	0.291000	0.22468	0.555000	0.69702	AGT		0.473	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		22	25	1	0	8.10497e-08	0.010504	9.99262e-08	22	25				
CRIM1	51232	broad.mit.edu	37	2	36691775	36691775	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:36691775G>T	ENST00000280527.2	+	5	1335	c.968G>T	c.(967-969)tGt>tTt	p.C323F		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	323					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGAAAGTGCTGTGATGTCTTT	0.517																																							uc002rpd.2		NA																	0				ovary(2)|skin(1)	3						c.(967-969)TGT>TTT		cysteine-rich motor neuron 1 precursor							336.0	309.0	318.0					2																	36691775		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691775G>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.968G>T	2.37:g.36691775G>T	ENSP00000280527:p.Cys323Phe						p.C323F	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			5	1007	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	323			Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.968G>T	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684759	0.88639	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.69561	-0.41	5.94	5.94	0.96194	.	0.049384	0.85682	D	0.000000	T	0.81113	0.4755	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.81439	-0.0932	10	0.87932	D	0	-7.8919	19.354	0.94404	0.0:0.0:1.0:0.0	.	323	Q9NZV1	CRIM1_HUMAN	F	323;215	ENSP00000280527:C323F	ENSP00000280527:C323F	C	+	2	0	CRIM1	36545279	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.562000	0.82300	2.820000	0.97059	0.650000	0.86243	TGT		0.517	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		54	70	1	0	1.54043e-34	0.00361	3.13816e-34	54	70				
DHX57	90957	broad.mit.edu	37	2	39088829	39088829	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:39088829C>A	ENST00000295373.6	-	5	849	c.723G>T	c.(721-723)ttG>ttT	p.L241F	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	241							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TACACTCATCCAAGCTTATCT	0.443																																					Melanoma(191;1090 2095 4375 23729 47341)	Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(721-723)TTG>TTT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							117.0	114.0	115.0					2																	39088829		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088829C>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.723G>T	2.37:g.39088829C>A	ENSP00000295373:p.Leu241Phe					DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.L241F	p.L241F	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			5	822	-		all_hematologic(82;0.248)	241					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.723G>T	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.164095	0.01673	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.02837	4.14	5.56	2.74	0.32292	.	0.523779	0.15920	N	0.238158	T	0.01695	0.0054	N	0.08118	0	0.32650	N	0.519442	P;B	0.45715	0.865;0.059	B;B	0.40375	0.327;0.029	T	0.51100	-0.8748	10	0.49607	T	0.09	.	5.2885	0.15714	0.132:0.556:0.0:0.312	.	241;241	Q6P158-2;Q6P158	.;DHX57_HUMAN	F	241;139	ENSP00000295373:L241F	ENSP00000295373:L241F	L	-	3	2	DHX57	38942333	0.790000	0.28787	0.067000	0.19924	0.130000	0.20726	1.501000	0.35693	0.277000	0.22141	-0.794000	0.03295	TTG		0.443	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		35	52	1	0	1.36161e-19	0.004289	2.35881e-19	35	52				
TMEM178A	130733	broad.mit.edu	37	2	39944284	39944284	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:39944284T>G	ENST00000281961.2	+	4	843	c.787T>G	c.(787-789)Tgc>Ggc	p.C263G	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	263						integral component of membrane (GO:0016021)											TTGCGCCTGGTGCAGTTTAGG	0.498																																							uc002rrt.2		NA																	0					0						c.(787-789)TGC>GGC		transmembrane protein 178 precursor							217.0	196.0	203.0					2																	39944284		2203	4300	6503	SO:0001583	missense	130733					integral to membrane		g.chr2:39944284T>G	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.787T>G	2.37:g.39944284T>G	ENSP00000281961:p.Cys263Gly					TMEM178_uc010fam.1_Missense_Mutation_p.C217G	p.C263G	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN			4	812	+		all_hematologic(82;0.248)	263			Helical; (Potential).		Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.787T>G	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	T	9.211	1.030821	0.19590	.	.	ENSG00000152154	ENST00000281961	T	0.68181	-0.31	5.91	5.91	0.95273	.	0.227351	0.45867	D	0.000325	T	0.45816	0.1361	N	0.08118	0	0.51767	D	0.999934	B	0.02656	0.0	B	0.04013	0.001	T	0.42172	-0.9467	9	.	.	.	-19.1513	14.3004	0.66346	0.0:0.0:0.0:1.0	.	263	Q8NBL3	TM178_HUMAN	G	263	ENSP00000281961:C263G	.	C	+	1	0	TMEM178	39797788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.740000	0.55082	2.254000	0.74563	0.533000	0.62120	TGC		0.498	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		34	54	0	0	0	0.005524	0	34	54				
ABCG5	64240	broad.mit.edu	37	2	44055222	44055222	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:44055222G>C	ENST00000260645.1	-	5	673	c.534C>G	c.(532-534)agC>agG	p.S178R	ABCG5_ENST00000405322.1_Missense_Mutation_p.S97R|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	178	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|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)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGCCACATGGCTCAGACTCA	0.592																																							uc002rtn.2		NA																	0				ovary(1)|skin(1)	2						c.(532-534)AGC>AGG		ATP-binding cassette sub-family G member 5							60.0	54.0	56.0					2																	44055222		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44055222G>C	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.534C>G	2.37:g.44055222G>C	ENSP00000260645:p.Ser178Arg					ABCG5_uc002rtm.2_5'UTR|ABCG5_uc002rto.2_Missense_Mutation_p.S97R|ABCG5_uc002rtp.2_5'UTR	p.S178R	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			5	674	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	178			ABC transporter.|Cytoplasmic (Potential).		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.534C>G	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430139	0.43122	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	T;T	0.40476	1.03;1.06	5.51	2.67	0.31697	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.520223	0.23710	N	0.045331	T	0.32526	0.0832	N	0.25957	0.775	0.80722	D	1	P;P	0.50369	0.934;0.81	P;P	0.50537	0.643;0.549	T	0.08351	-1.0726	10	0.12430	T	0.62	.	7.3738	0.26817	0.2879:0.1143:0.5978:0.0	.	97;178	E7EX35;Q9H222	.;ABCG5_HUMAN	R	178;97	ENSP00000260645:S178R;ENSP00000384513:S97R	ENSP00000260645:S178R	S	-	3	2	ABCG5	43908726	0.859000	0.29813	0.992000	0.48379	0.826000	0.46750	0.778000	0.26732	0.024000	0.15214	-0.797000	0.03246	AGC		0.592	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		14	19	0	0	0	0.003163	0	14	19				
ABCG8	64241	broad.mit.edu	37	2	44099212	44099212	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:44099212T>A	ENST00000272286.2	+	7	1152	c.1062T>A	c.(1060-1062)cgT>cgA	p.R354R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	354					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAAAAGTGCGTGACTTAGATG	0.542																																							uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(1060-1062)CGT>CGA		ATP-binding cassette sub-family G member 8							117.0	113.0	114.0					2																	44099212		2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44099212T>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1062T>A	2.37:g.44099212T>A						ABCG8_uc010yoa.1_Silent_p.R354R	p.R354R	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			7	1152	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	354			Cytoplasmic (Potential).		Q53QN8	Silent	SNP	ENST00000272286.2	37	c.1062T>A	CCDS1815.1																																																																																				0.542	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		47	9	0	0	0	0.002852	0	47	9				
EPAS1	2034	broad.mit.edu	37	2	46588229	46588229	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:46588229G>T	ENST00000263734.3	+	6	1289	c.779G>T	c.(778-780)aGa>aTa	p.R260I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	260	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGTGATGACAGGTAGGGGGCC	0.537																																							uc002ruv.2		NA																	0				ovary(1)|skin(1)	2						c.(778-780)AGA>ATA		endothelial PAS domain protein 1							70.0	52.0	58.0					2																	46588229		2203	4300	6503	SO:0001630	splice_region_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46588229G>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.779+1G>T	2.37:g.46588229G>T							p.R260I	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		6	1267	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	260			PAS 2.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.779G>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885823	0.72410	.	.	ENSG00000116016	ENST00000263734	T	0.31510	1.49	4.77	3.9	0.45041	PAS fold-3 (1);PAS (3);	0.047031	0.85682	D	0.000000	T	0.59514	0.2199	M	0.91717	3.235	0.80722	D	1	D	0.54207	0.965	P	0.61275	0.886	T	0.69811	-0.5044	10	0.87932	D	0	.	13.055	0.58975	0.0775:0.0:0.9225:0.0	.	260	Q99814	EPAS1_HUMAN	I	260	ENSP00000263734:R260I	ENSP00000263734:R260I	R	+	2	0	EPAS1	46441733	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.225000	0.72271	1.242000	0.43836	0.561000	0.74099	AGA		0.537	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	Missense_Mutation	15	2	1	0	4.14922e-12	0.004007	5.92033e-12	15	2				
C2orf61	285051	broad.mit.edu	37	2	47382370	47382370	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:47382370G>A	ENST00000445927.2	-	1	147	c.21C>T	c.(19-21)gcC>gcT	p.A7A	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000294947.2_Silent_p.A7A	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	7								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGAAGCGGTGGCGACGGCTG	0.647																																							uc002rvs.2		NA																	2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)		0						c.(19-21)GCC>GCT		hypothetical protein LOC285051 isoform 2							96.0	80.0	86.0					2																	47382370		2203	4300	6503	SO:0001819	synonymous_variant	285051							g.chr2:47382370G>A	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.21C>T	2.37:g.47382370G>A						C2orf61_uc010fbd.2_Intron|C2orf61_uc010yog.1_Silent_p.A7A	p.A7A	NM_173649	NP_775920	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		1	148	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	7					H7C2Z2	Silent	SNP	ENST00000445927.2	37	c.21C>T	CCDS54356.1																																																																																				0.647	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		9	16	0	0	0	0.008291	0	9	16				
CCDC85A	114800	broad.mit.edu	37	2	56420333	56420333	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:56420333G>T	ENST00000407595.2	+	2	1500	c.998G>T	c.(997-999)gGa>gTa	p.G333V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	333	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGCACAGTGGAGGGAGCCCG	0.627																																							uc002rzn.2		NA																	0				breast(3)|ovary(2)	5						c.(997-999)GGA>GTA		coiled-coil domain containing 85A							54.0	63.0	60.0					2																	56420333		2036	4191	6227	SO:0001583	missense	114800							g.chr2:56420333G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.998G>T	2.37:g.56420333G>T	ENSP00000384040:p.Gly333Val						p.G333V	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1500	+			333			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.998G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544798	0.65198	.	.	ENSG00000055813	ENST00000407595	T	0.46819	0.86	5.35	4.46	0.54185	.	0.194290	0.44688	D	0.000424	T	0.44787	0.1310	L	0.43923	1.385	0.80722	D	1	P	0.50066	0.931	B	0.44224	0.444	T	0.36962	-0.9726	10	0.36615	T	0.2	-28.4125	15.9891	0.80188	0.0:0.135:0.865:0.0	.	333	Q96PX6	CC85A_HUMAN	V	333	ENSP00000384040:G333V	ENSP00000384040:G333V	G	+	2	0	CCDC85A	56273837	1.000000	0.71417	0.983000	0.44433	0.884000	0.51177	9.230000	0.95299	1.232000	0.43678	0.591000	0.81541	GGA		0.627	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			22	43	1	0	1.50039e-11	0.001882	2.10706e-11	22	43				
BCL11A	53335	broad.mit.edu	37	2	60679770	60679770	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:60679770G>T	ENST00000359629.5	-	5	958	c.662C>A	c.(661-663)cCc>cAc	p.P221H	BCL11A_ENST00000356842.4_Silent_p.T754T|BCL11A_ENST00000538214.1_Missense_Mutation_p.P771H|BCL11A_ENST00000537768.1_Silent_p.T423T	NM_138559.1	NP_612569.1	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					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)			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)			GAGCTCTCTGGGTACTACGCC	0.522			T	IGH@	B-CLL																																		uc010ypj.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2311-2313)CCC>CAC		B-cell CLL/lymphoma 11A isoform 1							84.0	91.0	88.0					2																	60679770		2203	4300	6503	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.chr2:60679770G>T	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	ENST00000359629.5:c.662C>A	2.37:g.60679770G>T	ENSP00000352648:p.Pro221His					BCL11A_uc002sab.2_Silent_p.T754T|BCL11A_uc002sac.2_Missense_Mutation_p.P221H|BCL11A_uc010ypi.1_Silent_p.T423T	p.P771H	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	2540	-			Error:Variant_position_missing_in_Q9H165_after_alignment					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000359629.5	37	c.2312C>A	CCDS46295.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391348	0.42410	.	.	ENSG00000119866	ENST00000359629;ENST00000538214	T	0.05855	3.38	5.92	5.92	0.95590	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.80722	D	1	P;P	0.47910	0.902;0.895	P;P	0.53450	0.726;0.561	T	0.00004	-1.2565	8	0.87932	D	0	.	18.5018	0.90884	0.0:0.0:1.0:0.0	.	771;221	F5H2Y4;Q9H165-3	.;.	H	221;771	ENSP00000438303:P771H	ENSP00000352648:P221H	P	-	2	0	BCL11A	60533274	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.069000	0.71209	2.810000	0.96702	0.650000	0.86243	CCC		0.522	BCL11A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325349.2	NM_022893		70	9	1	0	6.86016e-32	0.00361	1.37011e-31	70	9				
PPP3R1	5534	broad.mit.edu	37	2	68415683	68415683	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:68415683T>C	ENST00000234310.3	-	3	586	c.183A>G	c.(181-183)atA>atG	p.I61M	PPP3R1_ENST00000409377.1_Missense_Mutation_p.I51M|RP11-474G23.1_ENST00000406334.3_Missense_Mutation_p.I51M|PPP3R1_ENST00000409752.1_Missense_Mutation_p.I80M	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	61	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904)			large_intestine(1)	1						CTGTGTCGAATATATCTATTA	0.353																																							uc002sei.1		NA																	0					0						c.(181-183)ATA>ATG		protein phosphatase 3, regulatory subunit B,	Pimecrolimus(DB00337)						129.0	128.0	128.0					2																	68415683		1841	4089	5930	SO:0001583	missense	5534				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding	g.chr2:68415683T>C	M30773	CCDS46310.1	2p14	2013-01-10	2010-04-14		ENSG00000221823	ENSG00000221823	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits"", ""EF-hand domain containing"""	9317	protein-coding gene	gene with protein product	"""calcineurin B, type I (19kDa)"", ""protein phosphatase 2B regulatory subunit B alpha"""	601302	"""protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform"""			8978785, 2558868	Standard	NM_000945		Approved	CALNB1, CNB, CNB1	uc002sei.1	P63098	OTTHUMG00000129561	ENST00000234310.3:c.183A>G	2.37:g.68415683T>C	ENSP00000234310:p.Ile61Met						p.I61M	NM_000945	NP_000936	P63098	CANB1_HUMAN			3	575	-			61			EF-hand 2.		B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0	Missense_Mutation	SNP	ENST00000234310.3	37	c.183A>G	CCDS46310.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.780391	0.70222	.	.	ENSG00000221823	ENST00000234310;ENST00000409752;ENST00000409377	T;T;T	0.70749	-0.51;-0.51;-0.51	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	N	0.17631	0.505	0.33912	D	0.639788	P	0.49185	0.92	D	0.67231	0.95	T	0.83009	-0.0173	10	0.87932	D	0	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	61	P63098	CANB1_HUMAN	M	61;80;51	ENSP00000234310:I61M;ENSP00000387216:I80M;ENSP00000387148:I51M	ENSP00000234310:I61M	I	-	3	3	PPP3R1	68269187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.136000	0.42121	2.271000	0.75665	0.533000	0.62120	ATA		0.353	PPP3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326765.4	NM_000945		33	52	0	0	0	0.002836	0	33	52				
AAK1	22848	broad.mit.edu	37	2	69769699	69769699	+	Missense_Mutation	SNP	G	G	A	rs367711211		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:69769699G>A	ENST00000409085.4	-	5	866	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	AAK1_ENST00000409068.1_Missense_Mutation_p.R164C|AAK1_ENST00000406297.3_Missense_Mutation_p.R164C|AAK1_ENST00000470281.1_5'UTR	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGATGCAGGCGGGCAACAGCT	0.488																																							uc002sfp.2		NA																	0					0						c.(490-492)CGC>TGC		AP2 associated kinase 1		G	CYS/ARG	1,3961		0,1,1980	112.0	119.0	117.0		490	2.3	1.0	2		117	0,8378		0,0,4189	no	missense	AAK1	NM_014911.3	180	0,1,6169	AA,AG,GG		0.0,0.0252,0.0081	benign	164/962	69769699	1,12339	1981	4189	6170	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69769699G>A	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.490C>T	2.37:g.69769699G>A	ENSP00000386456:p.Arg164Cys					AAK1_uc010fdk.2_Missense_Mutation_p.R164C|AAK1_uc010yqm.1_Missense_Mutation_p.R164C	p.R164C	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN			5	995	-			164			Protein kinase.		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.490C>T	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.025890	0.54683	2.52E-4	0.0	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.65178	-0.14;-0.14;-0.14	5.26	2.29	0.28610	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051147	0.64402	D	0.000001	T	0.50292	0.1607	N	0.17631	0.505	0.80722	D	1	D;P;B	0.55800	0.973;0.928;0.081	P;B;B	0.50270	0.636;0.399;0.019	T	0.42258	-0.9462	10	0.35671	T	0.21	-1.9726	8.3296	0.32178	0.0753:0.0:0.5711:0.3535	.	164;164;164	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	C	164	ENSP00000386342:R164C;ENSP00000386456:R164C;ENSP00000385181:R164C	ENSP00000385181:R164C	R	-	1	0	AAK1	69623203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.791000	0.38744	0.760000	0.33108	0.591000	0.81541	CGC		0.488	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		40	44	0	0	0	0.00623	0	40	44				
NAGK	55577	broad.mit.edu	37	2	71298852	71298852	+	Missense_Mutation	SNP	G	G	T	rs571170804		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:71298852G>T	ENST00000244204.6	+	4	312	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W	NAGK_ENST00000455662.2_Missense_Mutation_p.G130W|NAGK_ENST00000418807.3_Missense_Mutation_p.G33W|NAGK_ENST00000443938.2_Missense_Mutation_p.G84W|NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000443872.2_Intron			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	84					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GGAGGACGCGGGGAGGATCCT	0.632																																							uc002shp.3		NA																	0					0						c.(250-252)GGG>TGG		N-Acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						52.0	45.0	47.0					2																	71298852		2203	4300	6503	SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71298852G>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.250G>T	2.37:g.71298852G>T	ENSP00000244204:p.Gly84Trp					NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_Missense_Mutation_p.G33W	p.G84W	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN			4	656	+			84					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.250G>T		.	.	.	.	.	.	.	.	.	.	G	12.67	2.008038	0.35415	.	.	ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000418807	T;T;T	0.30981	1.51;1.51;1.51	4.75	-1.76	0.08006	ATPase, BadF/BadG/BcrA/BcrD type (1);	1.074330	0.07178	N	0.853565	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	P	0.46020	0.871	B	0.40375	0.327	T	0.06320	-1.0833	10	0.36615	T	0.2	-26.0196	1.0198	0.01515	0.3212:0.2664:0.2763:0.1361	.	84	Q9UJ70	NAGK_HUMAN	W	84;130;33	ENSP00000244204:G84W;ENSP00000389087:G130W;ENSP00000396070:G33W	ENSP00000244204:G84W	G	+	1	0	NAGK	71152360	0.877000	0.30153	0.005000	0.12908	0.959000	0.62525	1.399000	0.34566	-0.467000	0.06932	0.563000	0.77884	GGG		0.632	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			6	21	1	0	8.12818e-05	0.001984	8.99342e-05	6	21				
DYSF	8291	broad.mit.edu	37	2	71797024	71797024	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:71797024G>T	ENST00000258104.3	+	27	3162	c.2885G>T	c.(2884-2886)gGa>gTa	p.G962V	DYSF_ENST00000409744.1_Missense_Mutation_p.G949V|DYSF_ENST00000409582.3_Missense_Mutation_p.G979V|DYSF_ENST00000413539.2_Missense_Mutation_p.G993V|DYSF_ENST00000409366.1_Missense_Mutation_p.G963V|DYSF_ENST00000394120.2_Missense_Mutation_p.G963V|DYSF_ENST00000429174.2_Missense_Mutation_p.G962V|DYSF_ENST00000409651.1_Missense_Mutation_p.G994V|DYSF_ENST00000410020.3_Missense_Mutation_p.G980V|DYSF_ENST00000410041.1_Missense_Mutation_p.G980V|DYSF_ENST00000409762.1_Missense_Mutation_p.G979V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	962					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGCTTCCCGGAGGCCAGTGG	0.577																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(2884-2886)GGA>GTA		dysferlin isoform 8							53.0	55.0	54.0					2																	71797024		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797024G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2885G>T	2.37:g.71797024G>T	ENSP00000258104:p.Gly962Val					DYSF_uc010feg.2_Missense_Mutation_p.G993V|DYSF_uc010feh.2_Missense_Mutation_p.G948V|DYSF_uc002sig.3_Missense_Mutation_p.G948V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G962V|DYSF_uc010fef.2_Missense_Mutation_p.G979V|DYSF_uc010fei.2_Missense_Mutation_p.G979V|DYSF_uc010fek.2_Missense_Mutation_p.G980V|DYSF_uc010fej.2_Missense_Mutation_p.G949V|DYSF_uc010fel.2_Missense_Mutation_p.G949V|DYSF_uc010feo.2_Missense_Mutation_p.G994V|DYSF_uc010fem.2_Missense_Mutation_p.G963V|DYSF_uc010fen.2_Missense_Mutation_p.G980V|DYSF_uc002sif.2_Missense_Mutation_p.G963V	p.G962V	NM_003494	NP_003485	O75923	DYSF_HUMAN			27	3261	+			962			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2885G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	g	29.6	5.021435	0.93462	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	5.21	5.21	0.72293	Ferlin/Peroxisome membrane (1);	0.121022	0.56097	D	0.000040	D	0.95130	0.8422	L	0.39147	1.195	0.80722	D	1	D;D;D;D;D;P;D;B;D;P;P;D;D;D	0.59357	0.981;0.981;0.981;0.981;0.984;0.837;0.984;0.175;0.981;0.904;0.851;0.966;0.981;0.985	P;P;P;P;P;P;P;B;P;P;P;P;P;P	0.61003	0.812;0.812;0.812;0.812;0.812;0.649;0.812;0.213;0.812;0.534;0.649;0.812;0.812;0.882	D	0.95323	0.8422	10	0.59425	D	0.04	-16.154	16.623	0.84934	0.0:0.0:1.0:0.0	.	994;980;963;949;980;949;979;948;993;979;962;948;963;962	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	993;979;979;962;962;994;963;949;963;980;980	ENSP00000407046:G993V;ENSP00000387137:G979V;ENSP00000386547:G979V;ENSP00000398305:G962V;ENSP00000258104:G962V;ENSP00000386683:G994V;ENSP00000377678:G963V;ENSP00000386285:G949V;ENSP00000386512:G963V;ENSP00000386881:G980V;ENSP00000386617:G980V	ENSP00000258104:G962V	G	+	2	0	DYSF	71650532	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	9.628000	0.98415	2.597000	0.87782	0.546000	0.68486	GGA		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	28	1	0	0.00621372	0.006214	0.00651091	7	28				
DYSF	8291	broad.mit.edu	37	2	71838723	71838723	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:71838723C>T	ENST00000258104.3	+	38	4411	c.4134C>T	c.(4132-4134)ccC>ccT	p.P1378P	DYSF_ENST00000409744.1_Silent_p.P1365P|DYSF_ENST00000409582.3_Silent_p.P1395P|DYSF_ENST00000413539.2_Silent_p.P1409P|DYSF_ENST00000409366.1_Silent_p.P1379P|DYSF_ENST00000394120.2_Silent_p.P1379P|DYSF_ENST00000429174.2_Silent_p.P1378P|DYSF_ENST00000409651.1_Silent_p.P1410P|DYSF_ENST00000410020.3_Silent_p.P1396P|DYSF_ENST00000410041.1_Silent_p.P1396P|DYSF_ENST00000409762.1_Silent_p.P1395P|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1378	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAAGAACCCCAACTTTGACA	0.587																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4132-4134)CCC>CCT		dysferlin isoform 8							56.0	54.0	55.0					2																	71838723		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71838723C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4134C>T	2.37:g.71838723C>T						DYSF_uc010feg.2_Silent_p.P1409P|DYSF_uc010feh.2_Silent_p.P1364P|DYSF_uc002sig.3_Silent_p.P1364P|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.P1378P|DYSF_uc010fef.2_Silent_p.P1395P|DYSF_uc010fei.2_Silent_p.P1395P|DYSF_uc010fek.2_Silent_p.P1396P|DYSF_uc010fej.2_Silent_p.P1365P|DYSF_uc010fel.2_Silent_p.P1365P|DYSF_uc010feo.2_Silent_p.P1410P|DYSF_uc010fem.2_Silent_p.P1379P|DYSF_uc010fen.2_Silent_p.P1396P|DYSF_uc002sif.2_Silent_p.P1379P|DYSF_uc010yqy.1_Silent_p.P259P|DYSF_uc010yqz.1_Silent_p.P118P	p.P1378P	NM_003494	NP_003485	O75923	DYSF_HUMAN			38	4510	+			1378			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.4134C>T	CCDS1918.1																																																																																				0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		11	15	0	0	0	0.001368	0	11	15				
REG3A	5068	broad.mit.edu	37	2	79386515	79386515	+	Missense_Mutation	SNP	G	G	T	rs147363673		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:79386515G>T	ENST00000409839.3	-	2	53	c.17C>A	c.(16-18)gCc>gAc	p.A6D	REG3A_ENST00000393878.1_Missense_Mutation_p.A6D|REG3A_ENST00000305165.2_Missense_Mutation_p.A6D|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	6					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.A6V(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACTGGGCAGGGCCATGGGAGG	0.532																																							uc002sod.1		NA																	1	Substitution - Missense(1)	p.A6V(1)	skin(1)	skin(1)	1						c.(16-18)GCC>GAC		pancreatitis-associated protein precursor							178.0	130.0	146.0					2																	79386515		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.chr2:79386515G>T	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.17C>A	2.37:g.79386515G>T	ENSP00000386630:p.Ala6Asp					REG3A_uc002soe.1_Missense_Mutation_p.A6D|REG3A_uc002sof.1_Missense_Mutation_p.A6D	p.A6D	NM_138938	NP_620355	Q06141	REG3A_HUMAN			1	272	-			6						Missense_Mutation	SNP	ENST00000409839.3	37	c.17C>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775634	0.31411	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.14766	2.48;2.48;2.48	3.87	-0.0774	0.13719	.	0.743893	0.11573	N	0.550581	T	0.15609	0.0376	M	0.82923	2.615	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.40308	-0.9570	10	0.59425	D	0.04	.	0.9691	0.01412	0.2159:0.1925:0.4126:0.179	.	6	Q06141	REG3A_HUMAN	D	6	ENSP00000386630:A6D;ENSP00000377456:A6D;ENSP00000304311:A6D	ENSP00000304311:A6D	A	-	2	0	REG3A	79240023	0.001000	0.12720	0.002000	0.10522	0.240000	0.25518	0.272000	0.18644	-0.030000	0.13804	0.603000	0.83216	GCC		0.532	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		26	29	1	0	2.4375e-19	0.007291	4.19203e-19	26	29				
TRABD2A	129293	broad.mit.edu	37	2	85049164	85049165	+	Missense_Mutation	DNP	CC	CC	AT	rs559465733		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:85049164_85049165CC>AT	ENST00000409520.2	-	7	1436_1437	c.1394_1395GG>AT	c.(1393-1395)cGG>cAT	p.R465H	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Missense_Mutation_p.R416H	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	465					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										GGCGAGGGAGCCGCAGTTCAGT	0.594																																							uc010ysl.1		NA																	0				ovary(1)	1						c.(1393-1395)CGG>CAT		hypothetical protein LOC129293 precursor																																				SO:0001583	missense	129293					integral to membrane		g.chr2:85049164_85049165CC>AT	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1394_1395delinsAT	2.37:g.85049164_85049165delinsAT	ENSP00000387075:p.Arg465His					C2orf89_uc002sou.3_Missense_Mutation_p.R416H	p.R465H	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			7	1483_1484	-			465			Extracellular (Potential).		B4DKK8|I6UMB9	Missense_Mutation	DNP	ENST00000409520.2	37	c.1394_1395GG>AT																																																																																					0.594	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		4	5	0	0	0	0.004672	0	4	5				
CD8B	926	broad.mit.edu	37	2	87085357	87085357	+	Missense_Mutation	SNP	C	C	A	rs150505433		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:87085357C>A	ENST00000390655.6	-	2	284	c.226G>T	c.(226-228)Gca>Tca	p.A76S	CD8B_ENST00000393761.2_Missense_Mutation_p.A76S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Missense_Mutation_p.A76S|CD8B_ENST00000331469.2_Missense_Mutation_p.A76S|CD8B_ENST00000393759.2_Missense_Mutation_p.A76S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	76	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GTCCCTTTTGCGGAATCCCAG	0.547																																							uc002srz.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(226-228)GCA>TCA		CD8b antigen isoform 5 precursor							108.0	98.0	101.0					2																	87085357		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085357C>A		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.226G>T	2.37:g.87085357C>A	ENSP00000375070:p.Ala76Ser					RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Missense_Mutation_p.A76S|CD8B_uc002srx.2_Missense_Mutation_p.A76S|CD8B_uc002sry.2_Missense_Mutation_p.A76S|CD8B_uc010fgt.2_Missense_Mutation_p.A76S|CD8B_uc002ssa.2_Missense_Mutation_p.A76S|CD8B_uc010yto.1_Missense_Mutation_p.A76S	p.A76S	NM_004931	NP_004922	P10966	CD8B_HUMAN			2	276	-			76			Ig-like V-type.|Extracellular (Potential).		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.226G>T	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	C	1.372	-0.585942	0.03827	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	4.24	-8.47	0.00939	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.749850	0.00815	N	0.001530	T	0.25306	0.0615	N	0.01352	-0.895	0.09310	N	1	B;B;B;B;B;B	0.12630	0.006;0.0;0.003;0.002;0.002;0.001	B;B;B;B;B;B	0.08055	0.001;0.003;0.001;0.0;0.0;0.0	T	0.30534	-0.9975	10	0.09843	T	0.71	8.0372	5.7385	0.18079	0.3606:0.4318:0.0:0.2076	.	76;76;76;76;76;76	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	S	76	ENSP00000377358:A76S;ENSP00000377356:A76S;ENSP00000340592:A76S;ENSP00000331172:A76S;ENSP00000375070:A76S	ENSP00000331172:A76S	A	-	1	0	CD8B	86938868	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-3.332000	0.00509	-2.374000	0.00599	-1.454000	0.01032	GCA		0.547	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		34	30	1	0	2.42023e-17	0.003271	3.97052e-17	34	30				
IL1R1	3554	broad.mit.edu	37	2	102792910	102792910	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:102792910A>T	ENST00000410023.1	+	12	1719	c.1401A>T	c.(1399-1401)tcA>tcT	p.S467S	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Silent_p.S467S|IL1R1_ENST00000409929.1_Silent_p.S436S			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	467	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TGGGTGGTTCATCTGAAGAGC	0.398																																							uc002tbq.2		NA																	0				skin(1)	1						c.(1399-1401)TCA>TCT		interleukin 1 receptor, type I precursor	Anakinra(DB00026)						66.0	65.0	65.0					2																	102792910		2203	4300	6503	SO:0001819	synonymous_variant	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102792910A>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1401A>T	2.37:g.102792910A>T						IL1R1_uc010fix.2_Silent_p.S436S|IL1R1_uc002tbr.2_Silent_p.S467S	p.S467S	NM_000877	NP_000868	P14778	IL1R1_HUMAN			12	1719	+			467			TIR.|Cytoplasmic (Potential).		Q587I7	Silent	SNP	ENST00000410023.1	37	c.1401A>T	CCDS2055.1																																																																																				0.398	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			25	5	0	0	0	0.004656	0	25	5				
SH3RF3	344558	broad.mit.edu	37	2	110065636	110065636	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:110065636T>A	ENST00000309415.6	+	8	1839	c.1839T>A	c.(1837-1839)tcT>tcA	p.S613S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	613							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTGCCCACTCTGCAGCCCAGG	0.642																																							uc010ywt.1		NA																	0				ovary(1)	1						c.(1837-1839)TCT>TCA		SH3 domain containing ring finger 3							17.0	22.0	21.0					2																	110065636		2156	4254	6410	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110065636T>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1839T>A	2.37:g.110065636T>A							p.S613S	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			8	1839	+			613					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1839T>A																																																																																					0.642	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		19	3	0	0	0	0.002299	0	19	3				
GLI2	2736	broad.mit.edu	37	2	121746742	121746742	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:121746742G>C	ENST00000452319.1	+	14	3312	c.3252G>C	c.(3250-3252)caG>caC	p.Q1084H	GLI2_ENST00000314490.11_Missense_Mutation_p.Q756H|GLI2_ENST00000361492.4_Missense_Mutation_p.Q1084H					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCGGGCAGGTGTATCCCA	0.672																																							uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(3250-3252)CAG>CAC		GLI-Kruppel family member GLI2							58.0	64.0	62.0					2																	121746742		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746742G>C		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3252G>C	2.37:g.121746742G>C	ENSP00000390436:p.Gln1084His					GLI2_uc002tmq.1_Missense_Mutation_p.Q756H|GLI2_uc002tmr.1_Missense_Mutation_p.Q739H|GLI2_uc002tmt.3_Missense_Mutation_p.Q756H|GLI2_uc002tmu.3_Missense_Mutation_p.Q739H	p.Q1084H	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	3282	+	Renal(3;0.0496)	Prostate(154;0.0623)	1084						Missense_Mutation	SNP	ENST00000452319.1	37	c.3252G>C	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848723	0.17034	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.15952	2.38;2.38;2.43	4.78	1.96	0.26148	.	1.042350	0.07474	N	0.902690	T	0.12603	0.0306	N	0.22421	0.69	0.09310	N	1	B;B;P;B	0.41102	0.002;0.001;0.738;0.001	B;B;B;B	0.43251	0.002;0.005;0.413;0.001	T	0.27020	-1.0086	10	0.14252	T	0.57	.	6.4326	0.21805	0.2136:0.2432:0.5432:0.0	.	1084;739;739;756	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	H	1084;1084;756	ENSP00000390436:Q1084H;ENSP00000354586:Q1084H;ENSP00000312694:Q756H	ENSP00000312694:Q756H	Q	+	3	2	GLI2	121463212	0.002000	0.14202	0.008000	0.14137	0.429000	0.31625	-0.007000	0.12810	0.229000	0.21039	0.456000	0.33151	CAG		0.672	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		57	10	0	0	0	0.00361	0	57	10				
CNTNAP5	129684	broad.mit.edu	37	2	125530389	125530389	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:125530389C>A	ENST00000431078.1	+	17	2908	c.2544C>A	c.(2542-2544)atC>atA	p.I848I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	848	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCAGAGATCACCTTTGCCA	0.488																																							uc002tno.2		NA																	0				ovary(10)	10						c.(2542-2544)ATC>ATA		contactin associated protein-like 5 precursor							155.0	143.0	147.0					2																	125530389		1937	4132	6069	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530389C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2544C>A	2.37:g.125530389C>A						CNTNAP5_uc010flu.2_Silent_p.I849I	p.I848I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2908	+			848			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2544C>A	CCDS46401.1																																																																																				0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			52	5	1	0	3.39706e-21	0.00361	6.03168e-21	52	5				
MYO7B	4648	broad.mit.edu	37	2	128341834	128341835	+	Missense_Mutation	DNP	CC	CC	AT	rs537631327	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:128341834_128341835CC>AT	ENST00000409816.2	+	12	1513_1514	c.1481_1482CC>AT	c.(1480-1482)cCC>cAT	p.P494H	MYO7B_ENST00000389524.4_Missense_Mutation_p.P494H|MYO7B_ENST00000428314.1_Missense_Mutation_p.P494H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	494	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACAATCGGCCCACCCTGGACC	0.589																																							uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1480-1482)CCC>CAT		myosin VIIB																																				SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128341834_128341835CC>AT		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	Exception_encountered	2.37:g.128341834_128341835delinsAT	ENSP00000386461:p.Pro494His						p.P494H	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	13	1534_1535	+	Colorectal(110;0.1)		494			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	DNP	ENST00000409816.2	37	c.1481_1482CC>AT	CCDS46405.1																																																																																				0.589	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		34	5	0	0	0	0.004672	0	34	5				
MYO7B	4648	broad.mit.edu	37	2	128351163	128351163	+	Missense_Mutation	SNP	G	G	T	rs147949489	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:128351163G>T	ENST00000409816.2	+	17	2220	c.2188G>T	c.(2188-2190)Gtg>Ttg	p.V730L	MYO7B_ENST00000389524.4_Missense_Mutation_p.V730L|MYO7B_ENST00000428314.1_Missense_Mutation_p.V730L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	730	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATCACTGACGTGTGGCTGCG	0.617																																							uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2188-2190)GTG>TTG		myosin VIIB							85.0	94.0	91.0					2																	128351163		1967	4148	6115	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128351163G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2188G>T	2.37:g.128351163G>T	ENSP00000386461:p.Val730Leu						p.V730L	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	18	2241	+	Colorectal(110;0.1)		730					Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2188G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	7.933	0.741133	0.15642	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87029	-2.2;-2.2;-2.2	4.78	-6.84	0.01687	Myosin head, motor domain (2);	1.770000	0.02904	N	0.135751	T	0.59183	0.2175	N	0.01128	-1	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.61806	-0.6987	10	0.08837	T	0.75	.	4.8265	0.13419	0.1644:0.2885:0.4418:0.1052	.	730	Q6PIF6	MYO7B_HUMAN	L	730	ENSP00000374175:V730L;ENSP00000415090:V730L;ENSP00000386461:V730L	ENSP00000374175:V730L	V	+	1	0	MYO7B	128067633	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.183000	0.09712	-1.197000	0.02673	-1.225000	0.01585	GTG		0.617	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		63	11	1	0	2.72615e-36	0.00361	5.59372e-36	63	11				
GPR148	344561	broad.mit.edu	37	2	131487177	131487177	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:131487177C>A	ENST00000309926.4	+	1	535	c.453C>A	c.(451-453)atC>atA	p.I151I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGGCAGTCATCCATCCACTGC	0.592																																							uc002trv.1		NA																	0				skin(1)	1						c.(451-453)ATC>ATA		G protein-coupled receptor 148							65.0	62.0	63.0					2																	131487177		2203	4300	6503	SO:0001819	synonymous_variant	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487177C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.453C>A	2.37:g.131487177C>A							p.I151I	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	455	+	Colorectal(110;0.1)		151			Helical; Name=3; (Potential).		Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	c.453C>A	CCDS2163.1																																																																																				0.592	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		37	5	1	0	1.60099e-16	0.004878	2.56158e-16	37	5				
AMER3	205147	broad.mit.edu	37	2	131520865	131520865	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:131520865C>T	ENST00000423981.1	+	2	1330	c.1220C>T	c.(1219-1221)aCt>aTt	p.T407I	AMER3_ENST00000321420.4_Missense_Mutation_p.T407I	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	407					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGCCCAGGCACTCCTGCCGCC	0.617																																							uc002trw.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1219-1221)ACT>ATT		hypothetical protein LOC205147							67.0	55.0	59.0					2																	131520865		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520865C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1220C>T	2.37:g.131520865C>T	ENSP00000392700:p.Thr407Ile					FAM123C_uc010fmv.2_Missense_Mutation_p.T407I|FAM123C_uc010fms.1_Missense_Mutation_p.T407I|FAM123C_uc010fmt.1_Missense_Mutation_p.T407I|FAM123C_uc010fmu.1_Missense_Mutation_p.T407I	p.T407I	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1410	+	Colorectal(110;0.1)		407					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1220C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	8.857	0.946042	0.18356	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.44083	0.93;0.93	4.89	4.01	0.46588	.	0.475090	0.17787	N	0.162012	T	0.44767	0.1309	L	0.27053	0.805	0.09310	N	1	D	0.54601	0.967	P	0.58721	0.844	T	0.24905	-1.0147	10	0.45353	T	0.12	.	11.3421	0.49539	0.0:0.9095:0.0:0.0905	.	407	Q8N944	F123C_HUMAN	I	407	ENSP00000314914:T407I;ENSP00000392700:T407I	ENSP00000314914:T407I	T	+	2	0	FAM123C	131237335	0.000000	0.05858	0.055000	0.19348	0.010000	0.07245	0.873000	0.28052	1.206000	0.43276	0.491000	0.48974	ACT		0.617	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		44	3	0	0	0	0.00361	0	44	3				
AMER3	205147	broad.mit.edu	37	2	131521632	131521632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:131521632G>T	ENST00000423981.1	+	2	2097	c.1987G>T	c.(1987-1989)Gga>Tga	p.G663*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.G663*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	663					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCCAGGTCACGGAGGTGACAC	0.652																																							uc002trw.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1987-1989)GGA>TGA		hypothetical protein LOC205147							22.0	25.0	24.0					2																	131521632		2201	4300	6501	SO:0001587	stop_gained	205147							g.chr2:131521632G>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1987G>T	2.37:g.131521632G>T	ENSP00000392700:p.Gly663*					FAM123C_uc010fmv.2_Nonsense_Mutation_p.G663*|FAM123C_uc010fms.1_Nonsense_Mutation_p.G663*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.G663*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.G663*	p.G663*	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2177	+	Colorectal(110;0.1)		663					B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	c.1987G>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	36	5.928764	0.97116	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	3.94	-2.39	0.06602	.	0.667620	0.13103	N	0.413620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	8.7706	0.34731	0.6305:0.0:0.3695:0.0	.	.	.	.	X	663	.	ENSP00000314914:G663X	G	+	1	0	FAM123C	131238102	0.001000	0.12720	0.000000	0.03702	0.130000	0.20726	0.297000	0.19101	-0.418000	0.07450	-0.379000	0.06801	GGA		0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		18	1	1	0	7.05477e-17	0.00499	1.14419e-16	18	1				
LOC401010	401010	broad.mit.edu	37	2	132201690	132201690	+	IGR	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:132201690C>G								AC073869.19 (35068 upstream) : RP11-109E12.1 (17703 downstream)																							GCTGTATGACCGAGCCCAGGT	0.612																																							uc002tst.2		NA																	0					0						c.(310-312)TCG>TCC		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132201690C>G																													2.37:g.132201690C>G							p.S104S	NR_002826						1	778	-									Silent	SNP		37	c.312G>C																																																																																				0	0.612									13	2	0	0	0	0.001368	0	13	2				
ZRANB3	84083	broad.mit.edu	37	2	135982056	135982056	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:135982056C>A	ENST00000264159.6	-	15	2306	c.2190G>T	c.(2188-2190)gtG>gtT	p.V730V	ZRANB3_ENST00000401392.1_Silent_p.V728V|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.V728V	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	730					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGGTGTCATACACTGGCAAAG	0.363																																							uc002tum.2		NA																	0				lung(2)	2						c.(2188-2190)GTG>GTT		zinc finger, RAN-binding domain containing 3							85.0	80.0	81.0					2																	135982056		1863	4097	5960	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135982056C>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2190G>T	2.37:g.135982056C>A						ZRANB3_uc002tuk.2_Silent_p.V273V|ZRANB3_uc002tul.2_Silent_p.V728V	p.V730V	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	15	2307	-			730					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.2190G>T	CCDS46419.1																																																																																				0.363	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		25	5	1	0	1.77063e-15	0.005443	2.76467e-15	25	5				
LCT	3938	broad.mit.edu	37	2	136594685	136594685	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:136594685C>G	ENST00000264162.2	-	1	65	c.55G>C	c.(55-57)Ggg>Cgg	p.G19R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	19					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CAGTCTGACCCCCAGCATGAA	0.463																																							uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(55-57)GGG>CGG		lactase-phlorizin hydrolase preproprotein							56.0	59.0	58.0					2																	136594685		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136594685C>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.55G>C	2.37:g.136594685C>G	ENSP00000264162:p.Gly19Arg						p.G19R	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	1	66	-			19					Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.55G>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	c	13.74	2.326083	0.41197	.	.	ENSG00000115850	ENST00000264162	T	0.30448	1.53	5.16	5.16	0.70880	.	0.424955	0.23096	N	0.051965	T	0.43919	0.1269	L	0.34521	1.04	0.34088	D	0.660384	D	0.76494	0.999	D	0.67231	0.95	T	0.55263	-0.8168	10	0.72032	D	0.01	-17.6142	15.2444	0.73497	0.1407:0.8593:0.0:0.0	.	19	P09848	LPH_HUMAN	R	19	ENSP00000264162:G19R	ENSP00000264162:G19R	G	-	1	0	LCT	136311155	0.789000	0.28775	0.965000	0.40720	0.045000	0.14185	3.618000	0.54188	2.674000	0.91012	0.651000	0.88453	GGG		0.463	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		75	9	0	0	0	0.00361	0	75	9				
RIF1	55183	broad.mit.edu	37	2	152320044	152320044	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:152320044G>A	ENST00000243326.5	+	29	4493	c.4010G>A	c.(4009-4011)tGt>tAt	p.C1337Y	RIF1_ENST00000430328.2_Missense_Mutation_p.C1337Y|RIF1_ENST00000444746.2_Missense_Mutation_p.C1337Y|RIF1_ENST00000428287.2_Missense_Mutation_p.C1337Y|RIF1_ENST00000453091.2_Missense_Mutation_p.C1337Y			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)			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)		CAAACAGAATGTGTGTCAGAT	0.378																																							uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(4009-4011)TGT>TAT		RAP1 interacting factor 1							67.0	72.0	70.0					2																	152320044		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320044G>A	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.4010G>A	2.37:g.152320044G>A	ENSP00000243326:p.Cys1337Tyr					RIF1_uc002txl.2_Missense_Mutation_p.C1337Y|RIF1_uc002txn.2_Missense_Mutation_p.C1337Y|RIF1_uc002txo.2_Missense_Mutation_p.C1337Y|RIF1_uc002txp.2_RNA	p.C1337Y	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	4140	+			1337					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.4010G>A	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	0.443	-0.897478	0.02472	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	4.71	1.8	0.24995	.	0.566164	0.21313	N	0.076604	T	0.11623	0.0283	M	0.62723	1.935	0.09310	N	1	P;P	0.50272	0.933;0.834	P;B	0.44647	0.456;0.242	T	0.16837	-1.0389	10	0.10377	T	0.69	0.0198	8.9969	0.36059	0.3576:0.0:0.6424:0.0	.	1337;1337	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	Y	1337	ENSP00000390181:C1337Y;ENSP00000414615:C1337Y;ENSP00000415691:C1337Y;ENSP00000243326:C1337Y;ENSP00000416123:C1337Y	ENSP00000243326:C1337Y	C	+	2	0	RIF1	152028290	0.009000	0.17119	0.065000	0.19835	0.970000	0.65996	1.324000	0.33712	0.578000	0.29487	0.557000	0.71058	TGT		0.378	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			31	4	0	0	0	0.008361	0	31	4				
NEB	4703	broad.mit.edu	37	2	152534533	152534533	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:152534533C>A	ENST00000172853.10	-	33	3571	c.3424G>T	c.(3424-3426)Gat>Tat	p.D1142Y	NEB_ENST00000603639.1_Missense_Mutation_p.D1142Y|NEB_ENST00000397345.3_Missense_Mutation_p.D1142Y|NEB_ENST00000604864.1_Missense_Mutation_p.D1142Y|NEB_ENST00000409198.1_Missense_Mutation_p.D1142Y|NEB_ENST00000427231.2_Missense_Mutation_p.D1142Y			P20929	NEBU_HUMAN	nebulin	1142					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGAACATATCATGGGGCGTG	0.433																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(3424-3426)GAT>TAT		nebulin isoform 3							114.0	118.0	117.0					2																	152534533		1955	4147	6102	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534533C>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.3424G>T	2.37:g.152534533C>A	ENSP00000172853:p.Asp1142Tyr						p.D1142Y	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	33	3615	-			1142			Nebulin 28.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.3424G>T		.	.	.	.	.	.	.	.	.	.	C	25.5	4.648298	0.87958	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78502	-0.2179	10	0.87932	D	0	.	19.2011	0.93712	0.0:1.0:0.0:0.0	.	1142	P20929	NEBU_HUMAN	Y	1142	ENSP00000386259:D1142Y;ENSP00000380505:D1142Y;ENSP00000416578:D1142Y;ENSP00000172853:D1142Y	ENSP00000172853:D1142Y	D	-	1	0	NEB	152242779	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.818000	0.86416	2.640000	0.89533	0.655000	0.94253	GAT		0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		37	11	1	0	1.49673e-21	0.00623	2.67757e-21	37	11				
CCDC148	130940	broad.mit.edu	37	2	159033120	159033120	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:159033120T>C	ENST00000283233.5	-	13	1855	c.1542A>G	c.(1540-1542)gcA>gcG	p.A514A	CCDC148_ENST00000409187.1_Silent_p.A523A|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	514										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TAGCTTTTGATGCCATTGTAT	0.343																																							uc002tzq.2		NA																	0				ovary(2)	2						c.(1540-1542)GCA>GCG		coiled-coil domain containing 148							118.0	100.0	106.0					2																	159033120		2203	4299	6502	SO:0001819	synonymous_variant	130940							g.chr2:159033120T>C		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1542A>G	2.37:g.159033120T>C						CCDC148_uc002tzr.2_Silent_p.A362A|CCDC148_uc010foh.2_Silent_p.A227A	p.A514A	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			13	1805	-			514					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Silent	SNP	ENST00000283233.5	37	c.1542A>G	CCDS33304.1																																																																																				0.343	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		19	1	0	0	0	0.008871	0	19	1				
KCNH7	90134	broad.mit.edu	37	2	163253371	163253371	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:163253371C>A	ENST00000332142.5	-	11	2591	c.2492G>T	c.(2491-2493)tGt>tTt	p.C831F		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	831					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATGCAAGTCACAGTATGTGAG	0.353																																					GBM(196;1492 2208 17507 24132 45496)	GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(2491-2493)TGT>TTT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						89.0	89.0	89.0					2																	163253371		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163253371C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2492G>T	2.37:g.163253371C>A	ENSP00000331727:p.Cys831Phe						p.C831F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			11	2704	-			831			Cytoplasmic (Potential).|cNMP.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2492G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592099	0.86953	.	.	ENSG00000184611	ENST00000332142	D	0.97328	-4.34	5.67	5.67	0.87782	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99152	0.9707	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98985	1.0806	10	0.87932	D	0	.	19.7712	0.96366	0.0:1.0:0.0:0.0	.	831	Q9NS40	KCNH7_HUMAN	F	831	ENSP00000331727:C831F	ENSP00000331727:C831F	C	-	2	0	KCNH7	162961617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.677000	0.91161	0.585000	0.79938	TGT		0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		28	6	1	0	3.90053e-15	0.002445	5.99822e-15	28	6				
GRB14	2888	broad.mit.edu	37	2	165353977	165353977	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:165353977C>A	ENST00000263915.3	-	10	1666	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	GRB14_ENST00000497306.1_5'Flank|GRB14_ENST00000543549.1_Silent_p.L289L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	376					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCATTGCTACCAGGGAATTCT	0.373																																							uc002ucl.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(1126-1128)CTG>CTT		growth factor receptor-bound protein 14							80.0	80.0	80.0					2																	165353977		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353977C>A		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1128G>T	2.37:g.165353977C>A						GRB14_uc010zcv.1_Silent_p.L289L|GRB14_uc002ucm.2_RNA	p.L376L	NM_004490	NP_004481	Q14449	GRB14_HUMAN			10	1669	-			376					B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.1128G>T	CCDS2222.1																																																																																				0.373	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			41	8	1	0	4.80596e-09	0.003214	6.1544e-09	41	8				
SCN2A	6326	broad.mit.edu	37	2	166179881	166179881	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:166179881C>A	ENST00000375437.2	+	12	2177	c.1887C>A	c.(1885-1887)agC>agA	p.S629R	SCN2A_ENST00000375427.2_Missense_Mutation_p.S629R|SCN2A_ENST00000357398.3_Missense_Mutation_p.S629R|SCN2A_ENST00000283256.6_Missense_Mutation_p.S629R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	629					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)			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)	GCCAGGCCAGCCGTGCCTCCA	0.602																																							uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(1885-1887)AGC>AGA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						50.0	45.0	47.0					2																	166179881		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166179881C>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.1887C>A	2.37:g.166179881C>A	ENSP00000364586:p.Ser629Arg					SCN2A_uc002udd.2_Missense_Mutation_p.S629R|SCN2A_uc002ude.2_Missense_Mutation_p.S629R	p.S629R	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			12	2177	+			629					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1887C>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164849	0.57476	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.64	3.83	0.44106	Domain of unknown function DUF3451 (1);	0.459559	0.22230	N	0.062826	D	0.98242	0.9418	M	0.91717	3.235	0.36046	D	0.840442	B;D	0.76494	0.047;0.999	B;D	0.71184	0.012;0.972	D	0.99932	1.1327	10	0.87932	D	0	.	12.8161	0.57667	0.0:0.7861:0.0:0.2139	.	629;629	Q99250-2;Q99250	.;SCN2A_HUMAN	R	629	ENSP00000364586:S629R;ENSP00000349973:S629R;ENSP00000283256:S629R;ENSP00000364576:S629R	ENSP00000283256:S629R	S	+	3	2	SCN2A	165888127	0.996000	0.38824	0.997000	0.53966	0.849000	0.48306	0.540000	0.23191	0.341000	0.23771	-0.847000	0.03039	AGC		0.602	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		22	9	1	0	6.33239e-15	0.010504	9.67523e-15	22	9				
XIRP2	129446	broad.mit.edu	37	2	168104538	168104538	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:168104538T>C	ENST00000409195.1	+	9	6725	c.6636T>C	c.(6634-6636)ctT>ctC	p.L2212L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2212L|XIRP2_ENST00000409273.1_Silent_p.L1990L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2037					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)				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						TGTGGCAGCTTTTGCCTGTAG	0.353																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(6634-6636)CTT>CTC		xin actin-binding repeat containing 2 isoform 1							46.0	42.0	43.0					2																	168104538		1821	4084	5905	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104538T>C	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.6636T>C	2.37:g.168104538T>C						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L2037L|XIRP2_uc010fpq.2_Silent_p.L1990L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.L2212L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6654	+			2037					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.6636T>C	CCDS42769.1																																																																																				0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		29	4	0	0	0	0.00632	0	29	4				
PPIG	9360	broad.mit.edu	37	2	170487403	170487403	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:170487403A>G	ENST00000260970.3	+	10	887	c.667A>G	c.(667-669)Act>Gct	p.T223A	PPIG_ENST00000409714.3_Missense_Mutation_p.T208A|PPIG_ENST00000448752.2_Missense_Mutation_p.T223A|PPIG_ENST00000462903.1_Missense_Mutation_p.T223A|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	223	Asp/Glu/Ser-rich.				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CGAAAGTGCTACTGAAGAGAA	0.373																																							uc002uez.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(667-669)ACT>GCT		peptidylprolyl isomerase G	L-Proline(DB00172)						67.0	77.0	73.0					2																	170487403		2191	4271	6462	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170487403A>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.667A>G	2.37:g.170487403A>G	ENSP00000260970:p.Thr223Ala					PPIG_uc010fpx.2_Missense_Mutation_p.T208A|PPIG_uc010fpy.2_Missense_Mutation_p.T219A|PPIG_uc002ufa.2_Missense_Mutation_p.T223A|PPIG_uc002ufb.2_Missense_Mutation_p.T223A|PPIG_uc002ufc.1_Missense_Mutation_p.T223A|PPIG_uc002ufd.2_Missense_Mutation_p.T223A	p.T223A	NM_004792	NP_004783	Q13427	PPIG_HUMAN			10	887	+			223			Asp/Glu/Ser-rich.		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.667A>G	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506164	0.26949	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.55413	2.45;2.02;2.43;1.71;2.45;0.52	5.56	4.4	0.53042	.	0.305855	0.28683	N	0.014491	T	0.27205	0.0667	N	0.08118	0	0.19575	N	0.999968	B;B;B;B;B	0.10296	0.001;0.0;0.0;0.003;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.18335	-1.0340	10	0.12103	T	0.63	-1.4345	7.9196	0.29837	0.1367:0.0:0.142:0.7213	.	219;208;208;223;223	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	A	223;223;219;208;223;223;223	ENSP00000260970:T223A;ENSP00000408683:T219A;ENSP00000386245:T208A;ENSP00000435987:T223A;ENSP00000407083:T223A;ENSP00000402222:T223A	ENSP00000260970:T223A	T	+	1	0	PPIG	170195649	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	3.634000	0.54302	0.917000	0.36895	-0.270000	0.10280	ACT		0.373	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			83	9	0	0	0	0.00361	0	83	9				
TTN	7273	broad.mit.edu	37	2	179436924	179436924	+	Silent	SNP	G	G	T	rs375726644		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:179436924G>T	ENST00000591111.1	-	276	69236	c.69012C>A	c.(69010-69012)ggC>ggA	p.G23004G	TTN_ENST00000460472.2_Silent_p.G15580G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G15705G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.G24645G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.G15772G|TTN_ENST00000342992.6_Silent_p.G22077G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23004	Fibronectin type-III 67. {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)			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)			GAATTCGGCTGCCTCCATCAT	0.478																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(66229-66231)GGC>GGA		titin isoform N2-A		G	,,,	0,4118		0,0,2059	86.0	82.0	84.0		46740,66231,47115,47316	3.0	1.0	2		84	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6268	TT,TG,GG		0.0119,0.0,0.0080	,,,	15580/26927,22077/33424,15705/27052,15772/27119	179436924	1,12537	2059	4210	6269	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436924G>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.69012C>A	2.37:g.179436924G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G15772G|TTN_uc010zfi.1_Silent_p.G15705G|TTN_uc010zfj.1_Silent_p.G15580G	p.G22077G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66455	-			23004					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.66231C>A																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	3	1	0	3.09479e-21	0.006999	5.50184e-21	39	3				
TTN	7273	broad.mit.edu	37	2	179640216	179640216	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:179640216G>A	ENST00000591111.1	-	28	6599	c.6375C>T	c.(6373-6375)taC>taT	p.Y2125Y	TTN_ENST00000460472.2_Silent_p.Y2079Y|TTN_ENST00000359218.5_Silent_p.Y2079Y|TTN_ENST00000589042.1_Silent_p.Y2125Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.Y2079Y|TTN_ENST00000342992.6_Silent_p.Y2125Y|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.Y2125Y			Q8WZ42	TITIN_HUMAN	titin	12812	Ig-like 10.				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)			GCCAGTACCAGTAGATCCGGT	0.483																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(6373-6375)TAC>TAT		titin isoform N2-A							88.0	90.0	89.0					2																	179640216		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640216G>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.6375C>T	2.37:g.179640216G>A						TTN_uc010zfh.1_Silent_p.Y2079Y|TTN_uc010zfi.1_Silent_p.Y2079Y|TTN_uc010zfj.1_Silent_p.Y2079Y|TTN_uc002unb.2_Silent_p.Y2125Y|uc002unc.1_5'Flank	p.Y2125Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6599	-			2125					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.6375C>T																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	5	0	0	0	0.00278	0	24	5				
DNAJC10	54431	broad.mit.edu	37	2	183595774	183595774	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:183595774A>G	ENST00000264065.7	+	9	1160	c.745A>G	c.(745-747)Ata>Gta	p.I249V	DNAJC10_ENST00000537515.1_Missense_Mutation_p.I249V	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	249	Trxb 1.				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)			TGTCAACTCCATACAAACTGC	0.318																																					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.(745-747)ATA>GTA		DnaJ (Hsp40) homolog, subfamily C, member 10							70.0	73.0	72.0					2																	183595774		2203	4299	6502	SO:0001583	missense	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.chr2:183595774A>G		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.745A>G	2.37:g.183595774A>G	ENSP00000264065:p.Ile249Val					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.I249V|DNAJC10_uc010fro.1_RNA	p.I249V	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		9	1160	+			249					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.745A>G	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.551805	0.45487	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537515	T;T	0.37915	1.17;1.17	5.62	5.62	0.85841	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	M	0.73598	2.24	0.51767	D	0.999932	B;B	0.21606	0.012;0.058	B;B	0.25759	0.046;0.063	T	0.19353	-1.0308	10	0.08837	T	0.75	.	11.2169	0.48831	0.9285:0.0:0.0715:0.0	.	249;249	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	V	249	ENSP00000264065:I249V;ENSP00000441560:I249V	ENSP00000264065:I249V	I	+	1	0	DNAJC10	183304019	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.535000	0.60629	2.270000	0.75569	0.459000	0.35465	ATA		0.318	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		22	9	0	0	0	0.00333	0	22	9				
ZNF804A	91752	broad.mit.edu	37	2	185800922	185800922	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:185800922G>T	ENST00000302277.6	+	4	1393	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	267							metal ion binding (GO:0046872)			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						ACCAACAGATGTGCTTTTGAG	0.403																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(799-801)GTG>TTG		zinc finger protein 804A							93.0	87.0	89.0					2																	185800922		2203	4299	6502	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185800922G>T	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.799G>T	2.37:g.185800922G>T	ENSP00000303252:p.Val267Leu						p.V267L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1393	+			267					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.799G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144631	0.37825	.	.	ENSG00000170396	ENST00000302277	T	0.05513	3.43	5.42	3.61	0.41365	.	0.409870	0.20664	N	0.087969	T	0.04272	0.0118	N	0.22421	0.69	0.22156	N	0.999325	B	0.28760	0.221	B	0.22386	0.039	T	0.39921	-0.9590	10	0.31617	T	0.26	-1.2113	8.2462	0.31691	0.2464:0.0:0.7536:0.0	.	267	Q7Z570	Z804A_HUMAN	L	267	ENSP00000303252:V267L	ENSP00000303252:V267L	V	+	1	0	ZNF804A	185509167	0.615000	0.27026	0.997000	0.53966	0.939000	0.58152	0.878000	0.28126	1.276000	0.44395	0.591000	0.81541	GTG		0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		33	7	1	0	1.30897e-18	0.009535	2.21638e-18	33	7				
ZNF804A	91752	broad.mit.edu	37	2	185803644	185803644	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:185803644C>G	ENST00000302277.6	+	4	4115	c.3521C>G	c.(3520-3522)gCt>gGt	p.A1174G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1174							metal ion binding (GO:0046872)			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						ATCATTCCAGCTTCCGTTCTT	0.512																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3520-3522)GCT>GGT		zinc finger protein 804A							253.0	220.0	231.0					2																	185803644		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803644C>G	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.3521C>G	2.37:g.185803644C>G	ENSP00000303252:p.Ala1174Gly						p.A1174G	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	4115	+			1174					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3521C>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001260	0.54254	.	.	ENSG00000170396	ENST00000302277	T	0.15256	2.44	5.03	4.15	0.48705	.	0.284737	0.24933	N	0.034447	T	0.17534	0.0421	M	0.62723	1.935	0.26692	N	0.971338	P	0.43094	0.799	B	0.33339	0.162	T	0.09443	-1.0674	10	0.56958	D	0.05	-7.6484	13.948	0.64099	0.1528:0.8472:0.0:0.0	.	1174	Q7Z570	Z804A_HUMAN	G	1174	ENSP00000303252:A1174G	ENSP00000303252:A1174G	A	+	2	0	ZNF804A	185511889	0.997000	0.39634	0.404000	0.26397	0.791000	0.44710	5.115000	0.64655	1.091000	0.41335	0.313000	0.20887	GCT		0.512	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		99	12	0	0	0	0.00361	0	99	12				
TMEFF2	23671	broad.mit.edu	37	2	192818493	192818493	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:192818493G>T	ENST00000272771.5	-	9	2124	c.940C>A	c.(940-942)Cct>Act	p.P314T	TMEFF2_ENST00000392314.1_Missense_Mutation_p.P314T|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	314	Required for shedding.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.P314S(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AATCGTACAGGACCGGGAACA	0.443																																					Pancreas(50;1277 1381 28487 47072)	Pancreas(50;1277 1381 28487 47072)	uc002utc.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(940-942)CCT>ACT		transmembrane protein with EGF-like and two							137.0	117.0	124.0					2																	192818493		2203	4300	6503	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192818493G>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.940C>A	2.37:g.192818493G>T	ENSP00000272771:p.Pro314Thr						p.P314T	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		9	1334	-			314			Required for shedding.|Extracellular (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.940C>A	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742059	0.49151	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.58940	0.3;2.6	5.86	5.86	0.93980	.	0.114616	0.64402	D	0.000007	T	0.45577	0.1349	N	0.19112	0.55	0.80722	D	1	B	0.33964	0.434	B	0.31442	0.13	T	0.32824	-0.9892	10	0.28530	T	0.3	-11.4153	20.1986	0.98248	0.0:0.0:1.0:0.0	.	314	Q9UIK5	TEFF2_HUMAN	T	314	ENSP00000376128:P314T;ENSP00000272771:P314T	ENSP00000272771:P314T	P	-	1	0	TMEFF2	192526738	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	6.033000	0.70925	2.781000	0.95711	0.650000	0.86243	CCT		0.443	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		58	5	1	0	4.33383e-22	0.00361	7.78232e-22	58	5				
HSPD1	3329	broad.mit.edu	37	2	198363430	198363430	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:198363430G>T	ENST00000388968.3	-	2	410	c.143C>A	c.(142-144)gCc>gAc	p.A48D	HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000345042.2_Missense_Mutation_p.A48D|HSPD1_ENST00000544407.1_Missense_Mutation_p.A48D|HSPE1_ENST00000409468.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	48					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CACAGCATCGGCTAAAAGGTC	0.423																																							uc002uui.2		NA																	0					0						c.(142-144)GCC>GAC		chaperonin							80.0	85.0	83.0					2																	198363430		2203	4300	6503	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198363430G>T	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.143C>A	2.37:g.198363430G>T	ENSP00000373620:p.Ala48Asp					HSPD1_uc002uuj.2_Missense_Mutation_p.A48D|HSPD1_uc010zgx.1_Missense_Mutation_p.A48D|HSPD1_uc010fsm.2_5'UTR|HSPD1_uc002uuk.2_Missense_Mutation_p.A48D|HSPD1_uc010zgy.1_Missense_Mutation_p.A48D|HSPE1_uc002uul.2_5'Flank	p.A48D	NM_002156	NP_002147	P10809	CH60_HUMAN	Epithelial(96;0.225)		2	280	-			48					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.143C>A	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313348	0.95655	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605;ENST00000418022	D;D;D;D;D;D;D;D;T	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-0.68	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.93446	0.7909	H	0.96861	3.895	0.80722	D	1	D;D;D;D	0.89917	0.99;0.999;0.998;1.0	P;D;D;D	0.97110	0.782;1.0;0.994;1.0	D	0.95686	0.8736	10	0.87932	D	0	-6.3781	18.3608	0.90374	0.0:0.0:1.0:0.0	.	48;48;48;48	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	D	48;48;48;48;48;90;48;48;48	ENSP00000373620:A48D;ENSP00000340019:A48D;ENSP00000393670:A48D;ENSP00000412717:A48D;ENSP00000441296:A48D;ENSP00000414446:A90D;ENSP00000396460:A48D;ENSP00000402478:A48D;ENSP00000412227:A48D	ENSP00000340019:A48D	A	-	2	0	HSPD1	198071675	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.414000	0.81942	0.585000	0.79938	GCC		0.423	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		6	71	1	0	4.096e-09	0.001168	5.27847e-09	6	71				
PARD3B	117583	broad.mit.edu	37	2	206165394	206165394	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:206165394G>T	ENST00000406610.2	+	17	2533	c.2326G>T	c.(2326-2328)Ggc>Tgc	p.G776C	PARD3B_ENST00000462231.1_Missense_Mutation_p.G776C|PARD3B_ENST00000349953.3_Missense_Mutation_p.G776C|PARD3B_ENST00000358768.2_Missense_Mutation_p.G714C|PARD3B_ENST00000351153.1_Intron	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	776					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				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)		TCGAGGCCGAGGCTGCAATGA	0.517																																							uc002var.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(2326-2328)GGC>TGC		par-3 partitioning defective 3 homolog B isoform							99.0	101.0	101.0					2																	206165394		1929	4141	6070	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206165394G>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.2326G>T	2.37:g.206165394G>T	ENSP00000385848:p.Gly776Cys					PARD3B_uc010fub.1_Missense_Mutation_p.G776C|PARD3B_uc002vao.1_Missense_Mutation_p.G776C|PARD3B_uc002vap.1_Missense_Mutation_p.G714C|PARD3B_uc002vaq.1_Intron	p.G776C	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	17	2533	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	776					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2326G>T		.	.	.	.	.	.	.	.	.	.	G	18.82	3.704299	0.68615	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.33654	1.4;1.4;1.4	5.75	4.88	0.63580	.	0.129690	0.49916	D	0.000121	T	0.61515	0.2353	M	0.77486	2.375	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	0.67268	-0.5713	10	0.87932	D	0	.	14.7406	0.69451	0.0693:0.0:0.9307:0.0	.	776;714;776	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	C	776;714;776	ENSP00000385848:G776C;ENSP00000351618:G714C;ENSP00000340280:G776C	ENSP00000340280:G776C	G	+	1	0	PARD3B	205873639	1.000000	0.71417	0.890000	0.34922	0.791000	0.44710	9.869000	0.99810	1.438000	0.47492	-0.136000	0.14681	GGC		0.517	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		62	14	1	0	1.63578e-51	0.00361	3.47146e-51	62	14				
ERBB4	2066	broad.mit.edu	37	2	212578300	212578300	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:212578300C>A	ENST00000342788.4	-	8	1267	c.957G>T	c.(955-957)ggG>ggT	p.G319G	ERBB4_ENST00000436443.1_Silent_p.G319G|ERBB4_ENST00000402597.1_Silent_p.G319G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	319	Cys-rich.				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)			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)	ACATTTTAATCCCATTTTCTT	0.358										TSP Lung(8;0.080)																													uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(955-957)GGG>GGT		v-erb-a erythroblastic leukemia viral oncogene							134.0	130.0	132.0					2																	212578300		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.chr2:212578300C>A	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.957G>T	2.37:g.212578300C>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.G319G|ERBB4_uc010zji.1_Silent_p.G319G|ERBB4_uc010zjj.1_Silent_p.G319G|ERBB4_uc010fut.1_Silent_p.G319G	p.G319G	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)	8	1055	-		Renal(323;0.06)|Lung NSC(271;0.197)	319			Cys-rich.|Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.957G>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	7.640	0.680628	0.14907	.	.	ENSG00000178568	ENST00000260943	D	0.84070	-1.8	5.57	-6.18	0.02085	.	0.149763	0.64402	D	0.000010	T	0.78162	0.4240	.	.	.	0.51233	D	0.999915	.	.	.	.	.	.	T	0.70432	-0.4873	7	0.87932	D	0	.	1.89	0.03246	0.2403:0.1341:0.1584:0.4672	.	.	.	.	V	319	ENSP00000260943:G319V	ENSP00000260943:G319V	G	-	2	0	ERBB4	212286545	0.004000	0.15560	0.821000	0.32701	0.985000	0.73830	-1.551000	0.02178	-1.174000	0.02754	-0.911000	0.02809	GGA		0.358	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		16	1	1	0	2.39187e-15	0.008871	3.70623e-15	16	1				
PTPRN	5798	broad.mit.edu	37	2	220167434	220167434	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:220167434C>A	ENST00000295718.2	-	5	743	c.503G>T	c.(502-504)gGg>gTg	p.G168V	PTPRN_ENST00000423636.2_Missense_Mutation_p.G78V|PTPRN_ENST00000409251.3_Missense_Mutation_p.G168V|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	168					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGAGCTGGCCCCAGCTCCACC	0.647																																							uc002vkz.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(502-504)GGG>GTG		protein tyrosine phosphatase, receptor type, N							42.0	47.0	45.0					2																	220167434		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167434C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.503G>T	2.37:g.220167434C>A	ENSP00000295718:p.Gly168Val					PTPRN_uc010zlc.1_Missense_Mutation_p.G78V|PTPRN_uc002vla.2_Missense_Mutation_p.G168V	p.G168V	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	5	592	-		Renal(207;0.0474)	168			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.503G>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	6.998	0.554290	0.13374	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000412847;ENST00000446182;ENST00000440552;ENST00000442029	T;T;T	0.04234	3.86;3.91;3.67	4.52	3.62	0.41486	.	0.166519	0.29002	N	0.013457	T	0.04588	0.0125	L	0.36672	1.1	0.49687	D	0.999817	B;B	0.34372	0.451;0.451	B;B	0.31686	0.134;0.134	T	0.51655	-0.8678	10	0.26408	T	0.33	.	12.1427	0.54007	0.0:0.5372:0.4628:0.0	.	168;168	Q6NSL1;Q16849	.;PTPRN_HUMAN	V	168;168;168;78;78;78;135;78	ENSP00000386638:G168V;ENSP00000295718:G168V;ENSP00000444244:G78V	ENSP00000295718:G168V	G	-	2	0	PTPRN	219875678	.	.	0.988000	0.46212	0.033000	0.12548	.	.	1.233000	0.43693	0.561000	0.74099	GGG		0.647	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			47	7	1	0	5.2432e-18	0.00361	8.77358e-18	47	7				
GMPPA	29926	broad.mit.edu	37	2	220371037	220371037	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:220371037G>C	ENST00000358215.3	+	12	1424	c.1055G>C	c.(1054-1056)cGc>cCc	p.R352P	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.R352P|GMPPA_ENST00000313597.5_Missense_Mutation_p.R352P|GMPPA_ENST00000373917.3_Missense_Mutation_p.R405P|GMPPA_ENST00000341142.3_Missense_Mutation_p.R352P	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	352					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)	p.R352L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CGCTGGGCCCGCGTGGAGGGT	0.627																																							uc002vlr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1054-1056)CGC>CCC		GDP-mannose pyrophosphorylase A							71.0	71.0	71.0					2																	220371037		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220371037G>C	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1055G>C	2.37:g.220371037G>C	ENSP00000350949:p.Arg352Pro					GMPPA_uc002vls.2_Missense_Mutation_p.R352P|GMPPA_uc002vlt.2_Missense_Mutation_p.R405P|GMPPA_uc002vlu.2_Missense_Mutation_p.R405P|GMPPA_uc002vlv.2_Missense_Mutation_p.R352P|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.R352P	p.R352P	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	12	1123	+		Renal(207;0.0183)	352					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.1055G>C	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874035	0.91664	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.24908	1.87;1.83;1.87;1.87;1.87	4.5	4.5	0.54988	.	0.062575	0.64402	D	0.000010	T	0.63248	0.2495	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.76724	-0.2854	10	0.87932	D	0	-7.9735	16.8215	0.85747	0.0:0.0:1.0:0.0	.	405;352	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	P	352;405;352;352;352	ENSP00000315925:R352P;ENSP00000363027:R405P;ENSP00000350949:R352P;ENSP00000363016:R352P;ENSP00000340760:R352P	ENSP00000315925:R352P	R	+	2	0	GMPPA	220079281	1.000000	0.71417	0.907000	0.35723	0.971000	0.66376	9.690000	0.98676	2.039000	0.60335	0.557000	0.71058	CGC		0.627	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		47	8	0	0	0	0.00361	0	47	8				
SLC4A3	6508	broad.mit.edu	37	2	220502304	220502304	+	Splice_Site	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:220502304T>G	ENST00000358055.3	+	17	3049	c.2537T>G	c.(2536-2538)gTg>gGg	p.V846G	SLC4A3_ENST00000273063.6_Splice_Site_p.V873G|SLC4A3_ENST00000373760.2_Splice_Site_p.V846G|SLC4A3_ENST00000317151.3_Splice_Site_p.V846G|SLC4A3_ENST00000373762.3_Splice_Site_p.V873G			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	846	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACACACAGGTGTTCACAGAG	0.602																																							uc002vmp.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(2536-2538)GTG>GGG		solute carrier family 4, anion exchanger, member							25.0	27.0	26.0					2																	220502304		2202	4300	6502	SO:0001630	splice_region_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502304T>G		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2536-1T>G	2.37:g.220502304T>G						SLC4A3_uc002vmo.3_Missense_Mutation_p.V873G|SLC4A3_uc010fwm.2_Missense_Mutation_p.V396G|SLC4A3_uc010fwn.1_Missense_Mutation_p.V355G	p.V846G	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)	17	2806	+		Renal(207;0.0183)	846			Helical; (Potential).|Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2537T>G	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075413	0.76415	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	4.71	4.71	0.59529	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	M	0.80746	2.51	0.80722	D	1	P;D;D	0.58970	0.896;0.984;0.98	P;D;D	0.68483	0.578;0.958;0.93	D	0.90873	0.4747	10	0.87932	D	0	.	14.6943	0.69110	0.0:0.0:0.0:1.0	.	550;846;873	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	G	846;846;873;873;109;846	ENSP00000350756:V846G;ENSP00000362865:V846G;ENSP00000273063:V873G;ENSP00000362867:V873G;ENSP00000314006:V846G	ENSP00000273063:V873G	V	+	2	0	SLC4A3	220210548	1.000000	0.71417	0.991000	0.47740	0.637000	0.38172	7.531000	0.81973	2.114000	0.64651	0.456000	0.33151	GTG		0.602	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	Missense_Mutation	28	4	0	0	0	0.007291	0	28	4				
SCG2	7857	broad.mit.edu	37	2	224463757	224463757	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:224463757G>C	ENST00000305409.2	-	2	476	c.244C>G	c.(244-246)Caa>Gaa	p.Q82E		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGACACCTTGGTAGGGATTA	0.448																																							uc002vnm.2		NA																	0				ovary(1)	1						c.(244-246)CAA>GAA		secretogranin II precursor							118.0	123.0	121.0					2																	224463757		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463757G>C	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.244C>G	2.37:g.224463757G>C	ENSP00000304133:p.Gln82Glu						p.Q82E	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	377	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	82					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.244C>G	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414057	0.62511	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.02032	4.49;4.49;4.49	5.44	5.44	0.79542	.	0.231520	0.44688	D	0.000429	T	0.06188	0.0160	L	0.39633	1.23	0.51767	D	0.999937	P	0.50819	0.939	P	0.53809	0.735	T	0.53330	-0.8454	10	0.30078	T	0.28	.	19.6298	0.95698	0.0:0.0:1.0:0.0	.	82	P13521	SCG2_HUMAN	E	82	ENSP00000304133:Q82E;ENSP00000394702:Q82E;ENSP00000415468:Q82E	ENSP00000304133:Q82E	Q	-	1	0	SCG2	224172001	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	6.461000	0.73522	2.706000	0.92434	0.585000	0.79938	CAA		0.448	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		70	10	0	0	0	0.00361	0	70	10				
CUL3	8452	broad.mit.edu	37	2	225378314	225378314	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:225378314C>T	ENST00000264414.4	-	5	919	c.581G>A	c.(580-582)gGt>gAt	p.G194D	CUL3_ENST00000409777.1_Missense_Mutation_p.G170D|CUL3_ENST00000432260.2_5'Flank|CUL3_ENST00000344951.4_Missense_Mutation_p.G128D|CUL3_ENST00000409096.1_Missense_Mutation_p.G170D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	194					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCTTCGAGACCTAAAATCAT	0.299																																							uc002vny.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(580-582)GGT>GAT		cullin 3							58.0	60.0	59.0					2																	225378314		2202	4300	6502	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225378314C>T	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.581G>A	2.37:g.225378314C>T	ENSP00000264414:p.Gly194Asp					CUL3_uc010zls.1_Missense_Mutation_p.G128D|CUL3_uc010fwy.1_Missense_Mutation_p.G200D	p.G194D	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	5	965	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	194					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.581G>A	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274661	0.95459	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.81	5.81	0.92471	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.971;0.983;0.983	T	0.67313	-0.5702	10	0.72032	D	0.01	.	20.0758	0.97742	0.0:1.0:0.0:0.0	.	128;172;194	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	D	194;128;170;170	ENSP00000264414:G194D;ENSP00000343601:G128D;ENSP00000387200:G170D;ENSP00000386525:G170D	ENSP00000264414:G194D	G	-	2	0	CUL3	225086558	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.763000	0.94921	0.650000	0.86243	GGT		0.299	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			19	2	0	0	0	0.010504	0	19	2				
IRS1	3667	broad.mit.edu	37	2	227662185	227662185	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:227662185C>T	ENST00000305123.5	-	1	2290	c.1270G>A	c.(1270-1272)Ggt>Agt	p.G424S	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	424	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGATGAAACCGCCATCGCTG	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002voh.3		NA																	0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(1270-1272)GGT>AGT		insulin receptor substrate 1							82.0	89.0	86.0					2																	227662185		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662185C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1270G>A	2.37:g.227662185C>T	ENSP00000304895:p.Gly424Ser		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.G424S	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1322	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	424			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.1270G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604798	0.87157	.	.	ENSG00000169047	ENST00000305123	T	0.70869	-0.52	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.62266	1.93	0.58432	D	0.999996	D	0.89917	1.0	D	0.73708	0.981	T	0.80770	-0.1234	10	0.39692	T	0.17	-15.8908	19.6195	0.95650	0.0:1.0:0.0:0.0	.	424	P35568	IRS1_HUMAN	S	424	ENSP00000304895:G424S	ENSP00000304895:G424S	G	-	1	0	IRS1	227370429	1.000000	0.71417	0.993000	0.49108	0.872000	0.50106	7.818000	0.86416	2.633000	0.89246	0.561000	0.74099	GGT		0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		65	11	0	0	0	0.00361	0	65	11				
SPHKAP	80309	broad.mit.edu	37	2	228881720	228881720	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:228881720C>A	ENST00000392056.3	-	7	3896	c.3850G>T	c.(3850-3852)Ggt>Tgt	p.G1284C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1284C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1284						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		TTGCAGAGACCGGATGAGGAC	0.502																																							uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(3850-3852)GGT>TGT		sphingosine kinase type 1-interacting protein							89.0	86.0	87.0					2																	228881720		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881720C>A		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.3850G>T	2.37:g.228881720C>A	ENSP00000375909:p.Gly1284Cys					SPHKAP_uc002vpp.2_Missense_Mutation_p.G1284C|SPHKAP_uc010zlx.1_Missense_Mutation_p.G1284C	p.G1284C	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	3897	-		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)	1284					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3850G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081437	0.36758	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14766	2.5;2.48	5.81	4.93	0.64822	.	0.147127	0.64402	D	0.000009	T	0.33323	0.0859	M	0.69823	2.125	0.45239	D	0.998246	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.995;1.0	T	0.01600	-1.1315	10	0.62326	D	0.03	.	9.6775	0.40050	0.0:0.8483:0.0:0.1517	.	315;1284;1284	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	C	1284	ENSP00000375909:G1284C;ENSP00000339886:G1284C	ENSP00000339886:G1284C	G	-	1	0	SPHKAP	228589964	0.953000	0.32496	0.179000	0.23059	0.232000	0.25224	2.786000	0.47790	2.746000	0.94184	0.655000	0.94253	GGT		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		38	5	1	0	2.75727e-19	0.004878	4.71918e-19	38	5				
SPHKAP	80309	broad.mit.edu	37	2	228882836	228882836	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:228882836C>G	ENST00000392056.3	-	7	2780	c.2734G>C	c.(2734-2736)Gct>Cct	p.A912P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A912P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	912						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		GTGGATTGAGCAGGAAGCAGC	0.473																																							uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(2734-2736)GCT>CCT		sphingosine kinase type 1-interacting protein							272.0	247.0	255.0					2																	228882836		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882836C>G		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.2734G>C	2.37:g.228882836C>G	ENSP00000375909:p.Ala912Pro					SPHKAP_uc002vpp.2_Missense_Mutation_p.A912P|SPHKAP_uc010zlx.1_Missense_Mutation_p.A912P	p.A912P	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	2781	-		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)	912					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2734G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809445	0.31961	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12879	2.64;2.64	6.17	4.23	0.50019	.	0.390573	0.29159	N	0.012976	T	0.19167	0.0460	M	0.68317	2.08	0.32447	N	0.545975	P;B	0.49961	0.93;0.013	P;B	0.44860	0.462;0.022	T	0.26258	-1.0108	10	0.38643	T	0.18	-3.1263	12.3885	0.55345	0.5096:0.4904:0.0:0.0	.	912;912	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	P	912	ENSP00000375909:A912P;ENSP00000339886:A912P	ENSP00000339886:A912P	A	-	1	0	SPHKAP	228591080	0.977000	0.34250	0.992000	0.48379	0.760000	0.43138	0.289000	0.18957	1.618000	0.50286	0.655000	0.94253	GCT		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		110	16	0	0	0	0.00361	0	110	16				
NEU2	4759	broad.mit.edu	37	2	233897540	233897540	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:233897540C>G	ENST00000233840.3	+	1	159	c.159C>G	c.(157-159)gtC>gtG	p.V53V		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	53					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	AGCTGATTGTCCTGCGCAGAG	0.632																																							uc010zmn.1		NA																	0					0						c.(157-159)GTC>GTG		neuraminidase 2							55.0	47.0	50.0					2																	233897540		2203	4300	6503	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233897540C>G	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.159C>G	2.37:g.233897540C>G							p.V53V	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	1	159	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	53					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.159C>G	CCDS2501.1																																																																																				0.632	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		23	4	0	0	0	0.001882	0	23	4				
IQCA1	79781	broad.mit.edu	37	2	237308121	237308121	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:237308121T>C	ENST00000409907.3	-	9	1419	c.1145A>G	c.(1144-1146)gAa>gGa	p.E382G	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000431676.2_Missense_Mutation_p.E341G|IQCA1_ENST00000309507.5_Missense_Mutation_p.E378G	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	382	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTCCATTTTTCGTCTTCTTC	0.453																																							uc002vvz.1		NA																	0				ovary(1)	1						c.(1144-1146)GAA>GGA		IQ motif containing with AAA domain 1							138.0	135.0	136.0					2																	237308121		1951	4147	6098	SO:0001583	missense	79781						ATP binding	g.chr2:237308121T>C	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1145A>G	2.37:g.237308121T>C	ENSP00000387347:p.Glu382Gly					IQCA1_uc002vwb.2_Missense_Mutation_p.E389G|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.E341G	p.E382G	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			9	1327	-			382			Lys-rich.		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.1145A>G	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045138	0.55110	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.94758	-3.42;-3.41;-3.51	4.0	4.0	0.46444	.	0.000000	0.53938	D	0.000052	D	0.93028	0.7781	M	0.77820	2.39	0.20638	N	0.999874	P;P;P	0.51351	0.791;0.944;0.804	B;B;B	0.42555	0.231;0.391;0.36	D	0.86820	0.2004	10	0.23891	T	0.37	.	12.1636	0.54117	0.0:0.0:0.0:1.0	.	341;389;382	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	G	382;389;378;341;378	ENSP00000387347:E382G;ENSP00000311951:E378G;ENSP00000407213:E341G	ENSP00000254653:E382G	E	-	2	0	IQCA1	236972860	0.900000	0.30661	0.054000	0.19295	0.737000	0.42083	2.953000	0.49105	2.030000	0.59900	0.533000	0.62120	GAA		0.453	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		50	16	0	0	0	0.00361	0	50	16				
COL6A3	1293	broad.mit.edu	37	2	238303482	238303482	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:238303482G>T	ENST00000295550.4	-	3	909	c.457C>A	c.(457-459)Cac>Aac	p.H153N	COL6A3_ENST00000346358.4_Missense_Mutation_p.H153N|COL6A3_ENST00000347401.3_Missense_Mutation_p.H153N|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392004.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	153	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCTTCGAGTGTCCATCAGTT	0.493																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(457-459)CAC>AAC		alpha 3 type VI collagen isoform 1 precursor							96.0	93.0	94.0					2																	238303482		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303482G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.457C>A	2.37:g.238303482G>T	ENSP00000295550:p.His153Asn					COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.H153N	p.H153N	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	742	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	153			VWFA 1.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.457C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	4.729	0.135577	0.09032	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.93	4.02	0.46733	von Willebrand factor, type A (3);	0.854734	0.09852	U	0.747486	T	0.69043	0.3067	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.01;0.026	B;B	0.21360	0.034;0.034	T	0.58912	-0.7552	10	0.46703	T	0.11	.	10.1444	0.42755	0.0:0.149:0.6964:0.1546	.	153;153	E9PCV6;P12111	.;CO6A3_HUMAN	N	153	ENSP00000295550:H153N;ENSP00000315609:H153N;ENSP00000295546:H153N;ENSP00000389539:H153N	ENSP00000295550:H153N	H	-	1	0	COL6A3	237968221	1.000000	0.71417	0.144000	0.22314	0.494000	0.33585	3.897000	0.56273	1.020000	0.39573	0.455000	0.32223	CAC		0.493	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		65	7	1	0	1.72039e-30	0.00361	3.40255e-30	65	7				
RBM44	375316	broad.mit.edu	37	2	238727147	238727147	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:238727147G>T	ENST00000409864.1	+	3	1842	c.1588G>T	c.(1588-1590)Gat>Tat	p.D530Y	RBM44_ENST00000316997.4_Missense_Mutation_p.D530Y|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	529						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATACAGTGAAGATTGTATAGA	0.333																																							uc002vxi.3		NA																	0				ovary(4)	4						c.(1588-1590)GAT>TAT		RNA binding motif protein 44							41.0	39.0	40.0					2																	238727147		1839	4095	5934	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238727147G>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1588G>T	2.37:g.238727147G>T	ENSP00000386727:p.Asp530Tyr						p.D530Y	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1720	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	529					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1588G>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	7.714	0.695712	0.15106	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.26373	1.74;1.74	5.86	4.04	0.47022	.	0.574920	0.16528	N	0.210500	T	0.31857	0.0810	L	0.44542	1.39	0.09310	N	1	D	0.53885	0.963	P	0.52710	0.707	T	0.08330	-1.0727	10	0.62326	D	0.03	-5.283	9.0266	0.36234	0.0797:0.1531:0.7673:0.0	.	529	Q6ZP01	RBM44_HUMAN	Y	530	ENSP00000321179:D530Y;ENSP00000386727:D530Y	ENSP00000321179:D530Y	D	+	1	0	RBM44	238391886	0.001000	0.12720	0.003000	0.11579	0.102000	0.19082	0.752000	0.26362	0.792000	0.33850	0.591000	0.81541	GAT		0.333	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		4	15	1	0	0.00909568	0.009096	0.0094611	4	15				
ANO7	50636	broad.mit.edu	37	2	242135200	242135200	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:242135200C>A	ENST00000274979.8	+	4	514	c.411C>A	c.(409-411)caC>caA	p.H137Q	ANO7_ENST00000402430.3_Missense_Mutation_p.H136Q|ANO7_ENST00000402530.3_Missense_Mutation_p.H136Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	137					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAGACATGCACAGGACCTGGC	0.612																																							uc002wax.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(409-411)CAC>CAA		transmembrane protein 16G isoform NGEP long							113.0	100.0	104.0					2																	242135200		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135200C>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.411C>A	2.37:g.242135200C>A	ENSP00000274979:p.His137Gln					ANO7_uc002waw.2_Missense_Mutation_p.H136Q	p.H137Q	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			4	514	+			137			Cytoplasmic (Potential).		Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.411C>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	6.314	0.426024	0.11987	.	.	ENSG00000146205	ENST00000274979;ENST00000402530;ENST00000402430	T;T;T	0.62941	0.04;-0.01;0.04	2.84	0.812	0.18744	.	0.278356	0.28077	N	0.016696	T	0.51736	0.1692	L	0.52126	1.63	0.09310	N	1	P;P	0.49635	0.553;0.926	B;P	0.49361	0.062;0.608	T	0.51865	-0.8651	10	0.02654	T	1	.	5.9693	0.19342	0.0:0.6864:0.1923:0.1213	.	137;136	Q6IWH7;Q6IWH7-2	ANO7_HUMAN;.	Q	137;136;136	ENSP00000274979:H137Q;ENSP00000383985:H136Q;ENSP00000385418:H136Q	ENSP00000274979:H137Q	H	+	3	2	ANO7	241783873	0.000000	0.05858	0.000000	0.03702	0.526000	0.34562	0.000000	0.12993	0.023000	0.15187	0.467000	0.42956	CAC		0.612	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		28	7	1	0	7.26314e-15	0.007291	1.10499e-14	28	7				
ANO7	50636	broad.mit.edu	37	2	242141710	242141710	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr2:242141710C>A	ENST00000274979.8	+	8	979	c.876C>A	c.(874-876)ccC>ccA	p.P292P	ANO7_ENST00000402430.3_Silent_p.P291P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	292					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCGCCTTCCCCCTGCATGACG	0.647																																							uc002wax.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(874-876)CCC>CCA		transmembrane protein 16G isoform NGEP long							58.0	55.0	56.0					2																	242141710		2203	4300	6503	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242141710C>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.876C>A	2.37:g.242141710C>A							p.P292P	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			8	979	+			292			Cytoplasmic (Potential).		Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.876C>A	CCDS33423.1																																																																																				0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		44	7	1	0	8.86878e-18	0.00361	1.47365e-17	44	7				
SIRPG	55423	broad.mit.edu	37	20	1629907	1629907	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:1629907C>T	ENST00000303415.3	-	2	285	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	SIRPG_ENST00000381580.1_Missense_Mutation_p.R41Q|SIRPG_ENST00000344103.4_Missense_Mutation_p.R74Q|SIRPG_ENST00000381583.2_Missense_Mutation_p.R74Q|SIRPG_ENST00000216927.4_Missense_Mutation_p.R74Q|RP11-77C3.3_ENST00000456177.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	74	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GATTAATTCCCGGCCTGGTCC	0.512																																							uc002wfm.1		NA																	0				ovary(1)	1						c.(220-222)CGG>CAG		signal-regulatory protein gamma isoform 1							177.0	161.0	166.0					20																	1629907		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629907C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.221G>A	20.37:g.1629907C>T	ENSP00000305529:p.Arg74Gln					SIRPG_uc002wfn.1_Missense_Mutation_p.R74Q|SIRPG_uc002wfo.1_Missense_Mutation_p.R74Q	p.R74Q	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			2	286	-			74			Extracellular (Potential).|Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.221G>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	14.51	2.556694	0.45487	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.337016	0.24962	N	0.034211	T	0.07954	0.0199	M	0.74881	2.28	0.09310	N	1	D;P;D	0.89917	0.99;0.954;1.0	B;B;P	0.62649	0.403;0.375;0.905	T	0.03993	-1.0986	10	0.54805	T	0.06	.	7.3585	0.26733	0.0:1.0:0.0:0.0	.	74;74;74	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	Q	41;74;74;74;74	ENSP00000370992:R41Q;ENSP00000342759:R74Q;ENSP00000305529:R74Q;ENSP00000370995:R74Q;ENSP00000216927:R74Q	ENSP00000216927:R74Q	R	-	2	0	SIRPG	1577907	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-0.067000	0.11579	1.392000	0.46585	0.195000	0.17529	CGG		0.512	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		15	43	0	0	0	0.00245	0	15	43				
LZTS3	9762	broad.mit.edu	37	20	3146898	3146898	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:3146898G>A	ENST00000329152.3	-	2	1965	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	LZTS3_ENST00000337576.5_Missense_Mutation_p.R190W|LZTS3_ENST00000360342.3_Missense_Mutation_p.R190W			O60299	LZTS3_HUMAN		190						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GGGCCCTGCCGTCCCTCAGGA	0.617																																							uc002wia.1		NA																	0				pancreas(1)	1						c.(568-570)CGG>TGG		ProSAPiP1 protein							41.0	42.0	42.0					20																	3146898		2203	4300	6503	SO:0001583	missense	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3146898G>A																												ENST00000329152.3:c.568C>T	20.37:g.3146898G>A	ENSP00000332123:p.Arg190Trp					ProSAPiP1_uc002wib.1_Missense_Mutation_p.R190W	p.R190W	NM_014731	NP_055546	O60299	PRIP1_HUMAN			2	1966	-			190					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.568C>T	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987263	0.74589	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.33654	1.42;1.4;1.4	5.26	5.26	0.73747	.	0.306548	0.34338	N	0.004053	T	0.49729	0.1574	L	0.39898	1.24	0.48341	D	0.999633	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.958	T	0.49835	-0.8897	10	0.72032	D	0.01	-7.267	13.0077	0.58715	0.0:0.0:0.7286:0.2714	.	190;190	O60299-2;O60299	.;PRIP1_HUMAN	W	190	ENSP00000332123:R190W;ENSP00000353496:R190W;ENSP00000338166:R190W	ENSP00000332123:R190W	R	-	1	2	RP5-1187M17.10	3094898	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.592000	0.61027	2.450000	0.82876	0.561000	0.74099	CGG		0.617	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			4	10	0	0	0	0.009096	0	4	10				
PLCB1	23236	broad.mit.edu	37	20	8720994	8720994	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:8720994A>T	ENST00000338037.6	+	22	2339	c.2312A>T	c.(2311-2313)tAt>tTt	p.Y771F	PLCB1_ENST00000378637.2_Missense_Mutation_p.Y771F|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.Y771F	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	771					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTTCCAGGCTATCACTATATC	0.398																																							uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2311-2313)TAT>TTT		phosphoinositide-specific phospholipase C beta 1							111.0	103.0	105.0					20																	8720994		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8720994A>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2312A>T	20.37:g.8720994A>T	ENSP00000338185:p.Tyr771Phe					PLCB1_uc010zrb.1_Missense_Mutation_p.Y670F|PLCB1_uc002wna.2_Missense_Mutation_p.Y771F|PLCB1_uc002wnc.1_Missense_Mutation_p.Y670F|PLCB1_uc002wnd.1_Missense_Mutation_p.Y348F	p.Y771F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			22	2315	+			771					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2312A>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729233	0.69074	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.38	5.38	0.77491	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.65498	2.005	0.52099	D	0.999946	P;P	0.44521	0.465;0.837	B;P	0.47744	0.253;0.556	T	0.03000	-1.1084	10	0.59425	D	0.04	.	15.4052	0.74871	1.0:0.0:0.0:0.0	.	771;771	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	F	771;771;771;691;691;117;90	ENSP00000367908:Y771F;ENSP00000338185:Y771F;ENSP00000367904:Y771F;ENSP00000391162:Y90F	ENSP00000338185:Y771F	Y	+	2	0	PLCB1	8668994	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.287000	0.95975	2.042000	0.60477	0.477000	0.44152	TAT		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			10	27	0	0	0	0.001368	0	10	27				
TASP1	55617	broad.mit.edu	37	20	13561609	13561609	+	Silent	SNP	C	C	G	rs535638432		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:13561609C>G	ENST00000337743.4	-	6	543	c.423G>C	c.(421-423)tcG>tcC	p.S141S	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	141					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TGTTGGCAACCGAGACTGGGT	0.418																																							uc002woi.2		NA																	0					0						c.(421-423)TCG>TCC		taspase 1 precursor							104.0	100.0	101.0					20																	13561609		2203	4300	6503	SO:0001819	synonymous_variant	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13561609C>G	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.423G>C	20.37:g.13561609C>G						TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Silent_p.S118S|TASP1_uc010zrj.1_RNA	p.S141S	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			6	540	-			141					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Silent	SNP	ENST00000337743.4	37	c.423G>C	CCDS13116.1																																																																																				0.418	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		18	30	0	0	0	0.007413	0	18	30				
NDUFAF5	79133	broad.mit.edu	37	20	13775574	13775574	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:13775574G>T	ENST00000378106.5	+	5	585	c.466G>T	c.(466-468)Gtt>Ttt	p.V156F	NDUFAF5_ENST00000475968.1_Intron|NDUFAF5_ENST00000463598.1_Intron	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	156					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										TGACCTGGTGGTTAGCAGTTT	0.368																																							uc002wom.2		NA																	0					0						c.(466-468)GTT>TTT		hypothetical protein LOC79133 isoform 1							99.0	99.0	99.0					20																	13775574		2203	4300	6503	SO:0001583	missense	79133				mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity	g.chr20:13775574G>T		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.466G>T	20.37:g.13775574G>T	ENSP00000367346:p.Val156Phe					C20orf7_uc002wol.1_Missense_Mutation_p.V156F|C20orf7_uc002won.2_Intron|C20orf7_uc002woo.2_RNA	p.V156F	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN			5	499	+		Myeloproliferative disorder(85;0.00878)	156					A8K166|Q6GPH3|Q9H6F4	Missense_Mutation	SNP	ENST00000378106.5	37	c.466G>T	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231721	0.58777	.	.	ENSG00000101247	ENST00000378106;ENST00000536501	D	0.89196	-2.48	5.93	5.93	0.95920	Methyltransferase type 11 (1);	0.201832	0.41294	D	0.000903	D	0.87732	0.6251	L	0.33293	1	0.80722	D	1	B;B	0.33044	0.395;0.128	B;B	0.40009	0.316;0.25	D	0.85794	0.1369	10	0.51188	T	0.08	-38.4602	20.3465	0.98790	0.0:0.0:1.0:0.0	.	156;156	Q5TEU4;B3KR61	CT007_HUMAN;.	F	156	ENSP00000367346:V156F	ENSP00000437325:V156F	V	+	1	0	C20orf7	13723574	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.382000	0.66213	2.798000	0.96311	0.655000	0.94253	GTT		0.368	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		5	10	1	0	0.000602214	0.000602	0.000642362	5	10				
CSRP2BP	57325	broad.mit.edu	37	20	18143305	18143305	+	Missense_Mutation	SNP	G	G	T	rs144863968	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:18143305G>T	ENST00000435364.3	+	6	1728	c.1387G>T	c.(1387-1389)Gtg>Ttg	p.V463L	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.V335L|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.V462L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	463					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTATACTCCCGTGAGCATCTA	0.512																																							uc002wqj.2		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(1387-1389)GTG>TTG		CSRP2 binding protein							61.0	61.0	61.0					20																	18143305		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18143305G>T	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1387G>T	20.37:g.18143305G>T	ENSP00000392318:p.Val463Leu					CSRP2BP_uc002wqk.2_Missense_Mutation_p.V335L|CSRP2BP_uc010zru.1_Missense_Mutation_p.V334L	p.V463L	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			7	2009	+			463					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.1387G>T	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279406	0.23307	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.10763	2.84;2.84;2.84;2.86	6.17	3.08	0.35506	.	0.324157	0.33290	N	0.005063	T	0.07279	0.0184	L	0.29908	0.895	0.32469	N	0.543007	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08066	-1.0740	10	0.28530	T	0.3	-17.3918	7.6765	0.28488	0.194:0.122:0.684:0.0	.	335;463	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	L	463;462;463;335	ENSP00000278816:V463L;ENSP00000366909:V462L;ENSP00000392318:V463L;ENSP00000425909:V335L	ENSP00000278816:V463L	V	+	1	0	CSRP2BP	18091305	0.995000	0.38212	0.886000	0.34754	0.967000	0.64934	2.307000	0.43682	1.630000	0.50440	0.655000	0.94253	GTG		0.512	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		16	13	1	0	3.45872e-05	0.004007	3.89345e-05	16	13				
SCP2D1	140856	broad.mit.edu	37	20	18794586	18794586	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:18794586G>C	ENST00000377428.2	+	1	217	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	43																	GTCAGAATTTGAGAGCTTCCC	0.502																																							uc002wrk.2		NA																	0				skin(3)	3						c.(127-129)GAG>CAG		hypothetical protein LOC140856							95.0	86.0	89.0					20																	18794586		2203	4300	6503	SO:0001583	missense	140856						sterol binding	g.chr20:18794586G>C	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.127G>C	20.37:g.18794586G>C	ENSP00000366645:p.Glu43Gln					uc002wrj.1_Intron	p.E43Q	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN			1	217	+			43					Q548A4	Missense_Mutation	SNP	ENST00000377428.2	37	c.127G>C	CCDS13139.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.309079	0.00237	.	.	ENSG00000132631	ENST00000377428	T	0.21932	1.98	5.85	2.83	0.33086	SCP2 sterol-binding domain (1);	0.219528	0.32593	N	0.005886	T	0.05640	0.0148	N	0.01168	-0.975	0.43708	D	0.996173	B	0.06786	0.001	B	0.04013	0.001	T	0.35699	-0.9778	10	0.02654	T	1	-5.8	9.5414	0.39255	0.0:0.6495:0.2754:0.0751	.	43	Q9UJQ7	CT079_HUMAN	Q	43	ENSP00000366645:E43Q	ENSP00000366645:E43Q	E	+	1	0	C20orf79	18742586	0.956000	0.32656	0.504000	0.27639	0.008000	0.06430	2.044000	0.41241	0.378000	0.24764	-0.538000	0.04264	GAG		0.502	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		12	25	0	0	0	0.001368	0	12	25				
NKX2-2	4821	broad.mit.edu	37	20	21494243	21494243	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:21494243T>A	ENST00000377142.4	-	1	421	c.65A>T	c.(64-66)aAc>aTc	p.N22I	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	22					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCCTCATCGTTGGTGTCCGG	0.612																																							uc002wsi.2		NA																	0				pancreas(1)|skin(1)	2						c.(64-66)AAC>ATC		NK2 transcription factor related, locus 2							56.0	55.0	55.0					20																	21494243		2203	4300	6503	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21494243T>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.65A>T	20.37:g.21494243T>A	ENSP00000366347:p.Asn22Ile						p.N22I	NM_002509	NP_002500	O95096	NKX22_HUMAN			1	422	-			22						Missense_Mutation	SNP	ENST00000377142.4	37	c.65A>T	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217516	0.79352	.	.	ENSG00000125820	ENST00000377142	D	0.90844	-2.74	4.75	4.75	0.60458	.	0.146390	0.45361	D	0.000369	D	0.86994	0.6067	L	0.50333	1.59	0.58432	D	0.999998	B	0.26744	0.158	B	0.20955	0.032	D	0.84347	0.0530	10	0.35671	T	0.21	.	13.9483	0.64099	0.0:0.0:0.0:1.0	.	22	O95096	NKX22_HUMAN	I	22	ENSP00000366347:N22I	ENSP00000366347:N22I	N	-	2	0	NKX2-2	21442243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.555000	0.82223	1.774000	0.52232	0.460000	0.39030	AAC		0.612	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			17	17	0	0	0	0.00499	0	17	17				
DEFB118	117285	broad.mit.edu	37	20	29960910	29960910	+	Silent	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:29960910T>G	ENST00000253381.2	+	2	342	c.309T>G	c.(307-309)gtT>gtG	p.V103V		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	103					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				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)			AAGATATGGTTGAAGAGTCTG	0.458																																							uc002wvr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(307-309)GTT>GTG		beta-defensin 118 precursor							93.0	92.0	92.0					20																	29960910		2203	4300	6503	SO:0001819	synonymous_variant	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960910T>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.309T>G	20.37:g.29960910T>G							p.V103V	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	335	+	all_hematologic(12;0.158)		103					Q17RC4|Q8N691|Q9NUH0	Silent	SNP	ENST00000253381.2	37	c.309T>G	CCDS13177.1																																																																																				0.458	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		27	40	0	0	0	0.004656	0	27	40				
REM1	28954	broad.mit.edu	37	20	30064330	30064330	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:30064330C>G	ENST00000201979.2	+	2	375	c.82C>G	c.(82-84)Cac>Gac	p.H28D	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	28			H -> R (in dbSNP:rs1006459). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCCACGGGGCCACCAGCCTGG	0.647																																							uc002wwa.2		NA																	0				lung(2)|pancreas(2)	4						c.(82-84)CAC>GAC		RAS-like GTP-binding protein REM							71.0	85.0	81.0					20																	30064330		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064330C>G	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.82C>G	20.37:g.30064330C>G	ENSP00000201979:p.His28Asp						p.H28D	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	366	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		28					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.82C>G	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	8.303	0.820366	0.16678	.	.	ENSG00000088320	ENST00000201979	T	0.65916	-0.18	4.25	0.0492	0.14288	.	1.023970	0.07776	N	0.952480	T	0.43411	0.1246	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.27872	-1.0061	10	0.35671	T	0.21	.	4.441	0.11573	0.1613:0.5552:0.0:0.2835	.	28	O75628	REM1_HUMAN	D	28	ENSP00000201979:H28D	ENSP00000201979:H28D	H	+	1	0	REM1	29527991	0.002000	0.14202	0.595000	0.28798	0.684000	0.39900	0.571000	0.23669	0.160000	0.19432	-0.140000	0.14226	CAC		0.647	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		33	35	0	0	0	0.004289	0	33	35				
XKR7	343702	broad.mit.edu	37	20	30584609	30584609	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:30584609C>A	ENST00000562532.2	+	3	1263	c.1089C>A	c.(1087-1089)gtC>gtA	p.V363V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	363						integral component of membrane (GO:0016021)				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)			ACAACATGGTCGTGGGCATCA	0.582																																							uc002wxe.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1087-1089)GTC>GTA		XK, Kell blood group complex subunit-related							71.0	54.0	60.0					20																	30584609		2203	4300	6503	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30584609C>A	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.1089C>A	20.37:g.30584609C>A							p.V363V	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1263	+			363			Helical; (Potential).		Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.1089C>A	CCDS33459.1																																																																																				0.582	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		10	17	1	0	0.00621372	0.006214	0.00651091	10	17				
BPIFB6	128859	broad.mit.edu	37	20	31630680	31630680	+	Silent	SNP	C	C	A	rs372649011		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:31630680C>A	ENST00000349552.1	+	13	1248	c.1248C>A	c.(1246-1248)gtC>gtA	p.V416V		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	416						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCCCAGTTGTCAATGGTGAGG	0.488																																							uc010zuc.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1246-1248)GTC>GTA		bactericidal/permeability-increasing		C		0,4406		0,0,2203	119.0	101.0	107.0		1248	2.7	0.8	20		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BPIFB6	NM_174897.2		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		416/454	31630680	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128859					extracellular region	lipid binding	g.chr20:31630680C>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1248C>A	20.37:g.31630680C>A						BPIL3_uc010zud.1_Silent_p.V355V	p.V416V	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			13	1248	+			416						Silent	SNP	ENST00000349552.1	37	c.1248C>A	CCDS13211.1																																																																																				0.488	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		43	18	1	0	1.15505e-17	0.009718	1.917e-17	43	18				
BPIFB3	359710	broad.mit.edu	37	20	31659958	31659958	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:31659958G>C	ENST00000375494.3	+	13	1309	c.1309G>C	c.(1309-1311)Gca>Cca	p.A437P		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	437					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGCAGTGTATGCACCAAAGCT	0.507																																							uc002wym.1		NA																	0				ovary(4)	4						c.(1309-1311)GCA>CCA		antimicrobial peptide RYA3 precursor							176.0	124.0	141.0					20																	31659958		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31659958G>C	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1309G>C	20.37:g.31659958G>C	ENSP00000364643:p.Ala437Pro						p.A437P	NM_182658	NP_872599	P59826	LPLC3_HUMAN			13	1309	+			437					Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.1309G>C	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176111	0.38413	.	.	ENSG00000186190	ENST00000375494	T	0.09073	3.02	4.19	-0.415	0.12355	.	0.417677	0.20034	N	0.100658	T	0.05502	0.0145	N	0.22421	0.69	0.09310	N	1	P	0.40032	0.699	B	0.42138	0.377	T	0.28138	-1.0053	10	0.72032	D	0.01	-3.2362	3.062	0.06203	0.3478:0.0:0.4613:0.1909	.	437	P59826	BPIB3_HUMAN	P	437	ENSP00000364643:A437P	ENSP00000364643:A437P	A	+	1	0	BPIFB3	31123619	0.202000	0.23423	0.007000	0.13788	0.002000	0.02628	0.315000	0.19451	0.061000	0.16311	0.563000	0.77884	GCA		0.507	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		17	26	0	0	0	0.010504	0	17	26				
FAM83C	128876	broad.mit.edu	37	20	33879855	33879855	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:33879855C>A	ENST00000374408.3	-	1	349	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	85										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCCCGCGCACATGGCTGGTC	0.677																																							uc010zux.1		NA																	0				ovary(2)	2						c.(253-255)GTG>TTG		hypothetical protein LOC128876							35.0	37.0	37.0					20																	33879855		2203	4299	6502	SO:0001583	missense	128876							g.chr20:33879855C>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.253G>T	20.37:g.33879855C>A	ENSP00000363529:p.Val85Leu					FAM83C_uc002xcb.1_5'UTR	p.V85L	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	371	-			85					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.253G>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818097	0.50633	.	.	ENSG00000125998	ENST00000374408	T	0.11385	2.78	5.38	5.38	0.77491	.	0.713706	0.13475	N	0.385175	T	0.10852	0.0265	L	0.29908	0.895	0.39902	D	0.973913	B	0.31125	0.309	B	0.31946	0.138	T	0.32981	-0.9886	10	0.22706	T	0.39	-3.7744	16.9784	0.86320	0.0:1.0:0.0:0.0	.	85	Q9BQN1	FA83C_HUMAN	L	85	ENSP00000363529:V85L	ENSP00000363529:V85L	V	-	1	0	FAM83C	33343269	1.000000	0.71417	0.988000	0.46212	0.345000	0.29048	5.568000	0.67385	2.693000	0.91896	0.462000	0.41574	GTG		0.677	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			9	23	1	0	0.000274275	0.004482	0.000296559	9	23				
DLGAP4	22839	broad.mit.edu	37	20	35060954	35060954	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:35060954C>A	ENST00000373907.2	+	2	1033	c.834C>A	c.(832-834)ccC>ccA	p.P278P	DLGAP4_ENST00000339266.5_Silent_p.P278P|DLGAP4_ENST00000373913.3_Silent_p.P278P|DLGAP4_ENST00000401952.2_Silent_p.P278P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	278					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCACCTGCCCCAGCCTTGGGG	0.627																																							uc002xff.2		NA																	0				skin(2)|ovary(1)	3						c.(832-834)CCC>CCA		disks large-associated protein 4 isoform a							10.0	12.0	12.0					20																	35060954		2163	4249	6412	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060954C>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.834C>A	20.37:g.35060954C>A						DLGAP4_uc010zvp.1_Silent_p.P278P	p.P278P	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	1269	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	278					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.834C>A																																																																																					0.627	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		13	9	1	0	7.03913e-09	0.001368	8.96576e-09	13	9				
DSN1	79980	broad.mit.edu	37	20	35386978	35386978	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:35386978C>T	ENST00000426836.1	-	7	1005	c.633G>A	c.(631-633)atG>atA	p.M211I	DSN1_ENST00000373745.3_Missense_Mutation_p.M211I|DSN1_ENST00000373750.4_Missense_Mutation_p.M211I|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Missense_Mutation_p.M195I|DSN1_ENST00000373740.3_Missense_Mutation_p.M139I|DSN1_ENST00000373734.4_Missense_Mutation_p.M104I	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	211					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)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGTATTCCTTCATCTCAGCCA	0.303																																							uc010gfr.2		NA																	0				ovary(2)	2						c.(631-633)ATG>ATA		DSN1, MIND kinetochore complex component,							43.0	44.0	44.0					20																	35386978		2203	4296	6499	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35386978C>T	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.633G>A	20.37:g.35386978C>T	ENSP00000389810:p.Met211Ile					DSN1_uc002xfz.2_Missense_Mutation_p.M211I|DSN1_uc002xfy.3_Missense_Mutation_p.M1I|DSN1_uc002xga.2_Missense_Mutation_p.M211I|DSN1_uc010zvs.1_Missense_Mutation_p.M104I|DSN1_uc002xgc.2_Missense_Mutation_p.M195I|DSN1_uc002xgb.2_Missense_Mutation_p.M195I	p.M211I	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN			7	1006	-		Myeloproliferative disorder(115;0.00874)	211					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.633G>A	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	9.045	0.990529	0.18966	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	5.05	3.88	0.44766	.	0.341033	0.32041	N	0.006668	T	0.20414	0.0491	N	0.12746	0.255	0.23727	N	0.997001	B;B	0.14438	0.004;0.01	B;B	0.15052	0.012;0.012	T	0.16217	-1.0410	9	0.08599	T	0.76	-32.5078	9.2898	0.37780	0.0:0.8845:0.0:0.1155	.	104;211	Q5JW55;Q9H410	.;DSN1_HUMAN	I	211;211;195;144;211;139;104;195;211;111	.	ENSP00000362838:M144I	M	-	3	0	DSN1	34820392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.522000	0.35921	2.330000	0.79161	0.655000	0.94253	ATG		0.303	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		15	13	0	0	0	0.004007	0	15	13				
RALGAPB	57148	broad.mit.edu	37	20	37210018	37210018	+	IGR	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:37210018G>T	ENST00000262879.6	+	0	8661				ADIG_ENST00000373348.3_Splice_Site|ADIG_ENST00000537425.1_Splice_Site			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTTAGCCAAGGTGAGCTTCTT	0.517																																							uc002xjb.1		NA																	0					0						c.e1+1		small adipocyte factor 1							159.0	156.0	157.0					20																	37210018		1930	4146	6076	SO:0001628	intergenic_variant	149685				brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus		g.chr20:37210018G>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270		20.37:g.37210018G>T							p.D42_splice	NM_001018082	NP_001018092	Q0VDE8	ADIG_HUMAN			1	180	+		Myeloproliferative disorder(115;0.00878)						A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Splice_Site	SNP	ENST00000262879.6	37	c.124_splice	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342255	0.61073	.	.	ENSG00000182035	ENST00000537425;ENST00000373348;ENST00000416116	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4866	0.67622	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADIG	36643432	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.392000	0.52537	2.538000	0.85594	0.655000	0.94253	.		0.517	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		15	50	1	0	0.000422831	0.004007	0.000455111	15	50				
LPIN3	64900	broad.mit.edu	37	20	39974574	39974575	+	Missense_Mutation	DNP	GG	GG	TT	rs201841300		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:39974574_39974575GG>TT	ENST00000373257.3	+	2	222_223	c.131_132GG>TT	c.(130-132)cGG>cTT	p.R44L		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	44	N-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGCTCGTTCCGGTGCTCACCCT	0.644																																							uc002xjx.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(130-132)CGG>CTT		lipin 3																																				SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39974574_39974575GG>TT	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	Exception_encountered	20.37:g.39974574_39974575delinsTT	ENSP00000362354:p.Arg44Leu					LPIN3_uc010ggh.2_Missense_Mutation_p.R44L|LPIN3_uc010zwf.1_RNA	p.R44L	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			2	222_223	+		Myeloproliferative disorder(115;0.000739)	44			N-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	DNP	ENST00000373257.3	37	c.131_132GG>TT	CCDS33469.1																																																																																				0.644	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		52	40	0	0	0	0.004672	0	52	40				
CHD6	84181	broad.mit.edu	37	20	40116427	40116427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:40116427C>A	ENST00000373233.3	-	14	2056	c.1879G>T	c.(1879-1881)Gga>Tga	p.G627*	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	627	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAGGGTGTTCCAGTGAGAAGC	0.438																																							uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(1879-1881)GGA>TGA		chromodomain helicase DNA binding protein 6							90.0	94.0	93.0					20																	40116427		2203	4300	6503	SO:0001587	stop_gained	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40116427C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1879G>T	20.37:g.40116427C>A	ENSP00000362330:p.Gly627*					CHD6_uc002xkd.2_Nonsense_Mutation_p.G605*	p.G627*	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			14	2057	-		Myeloproliferative disorder(115;0.00425)	627			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.1879G>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	42	9.195609	0.99096	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.1478	19.2295	0.93833	0.0:1.0:0.0:0.0	.	.	.	.	X	627	.	ENSP00000362330:G627X	G	-	1	0	CHD6	39549841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.632000	0.89209	0.655000	0.94253	GGA		0.438	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			24	31	1	0	1.96895e-08	0.00278	2.46378e-08	24	31				
PTPRT	11122	broad.mit.edu	37	20	41101007	41101007	+	Missense_Mutation	SNP	C	C	T	rs375946335		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:41101007C>T	ENST00000373187.1	-	8	1348	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	PTPRT_ENST00000373198.4_Missense_Mutation_p.R450Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R450Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R450Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R450Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R450Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R450Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	450	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCGCAGGCCTCGCAGGGTGTA	0.602																																							uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1348-1350)CGA>CAA		protein tyrosine phosphatase, receptor type, T		C	GLN/ARG,GLN/ARG	1,4305		0,1,2152	59.0	65.0	63.0		1349,1349	5.3	1.0	20		63	0,8492		0,0,4246	no	missense,missense	PTPRT	NM_007050.5,NM_133170.3	43,43	0,1,6398	TT,TC,CC		0.0,0.0232,0.0078	probably-damaging,probably-damaging	450/1442,450/1461	41101007	1,12797	2153	4246	6399	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41101007C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1349G>A	20.37:g.41101007C>T	ENSP00000362283:p.Arg450Gln					PTPRT_uc010ggj.2_Missense_Mutation_p.R450Q	p.R450Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN			8	1533	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	450			Extracellular (Potential).|Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1349G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689668	0.68271	2.32E-4	0.0	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	L	0.58101	1.795	0.58432	D	0.999992	D;P	0.60160	0.987;0.938	P;B	0.46917	0.531;0.331	T	0.52571	-0.8558	10	0.19590	T	0.45	.	18.9173	0.92510	0.0:1.0:0.0:0.0	.	450;450	O14522-1;O14522	.;PTPRT_HUMAN	Q	450	ENSP00000362286:R450Q;ENSP00000362283:R450Q;ENSP00000362289:R450Q;ENSP00000348408:R450Q;ENSP00000362294:R450Q;ENSP00000362280:R450Q;ENSP00000362297:R450Q	ENSP00000348408:R450Q	R	-	2	0	PTPRT	40534421	0.998000	0.40836	0.997000	0.53966	0.730000	0.41778	3.862000	0.56009	2.484000	0.83849	0.462000	0.41574	CGA		0.602	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			31	27	0	0	0	0.009535	0	31	27				
PKIG	11142	broad.mit.edu	37	20	43246994	43246994	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:43246994A>T	ENST00000372889.1	+	6	805	c.220A>T	c.(220-222)Acc>Tcc	p.T74S	ADA_ENST00000464097.1_5'Flank|PKIG_ENST00000372894.3_Missense_Mutation_p.T74S|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372891.3_Missense_Mutation_p.T74S|PKIG_ENST00000349959.3_Missense_Mutation_p.T74S|PKIG_ENST00000372892.3_Missense_Mutation_p.T74S|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372886.1_Missense_Mutation_p.T74S	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	74					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGATGGGACCACCTCGTCTTG	0.597																																							uc002xmg.2		NA																	0					0						c.(220-222)ACC>TCC		cAMP-dependent protein kinase inhibitor gamma							125.0	128.0	127.0					20																	43246994		2203	4300	6503	SO:0001583	missense	11142						cAMP-dependent protein kinase inhibitor activity|protein binding	g.chr20:43246994A>T	AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.220A>T	20.37:g.43246994A>T	ENSP00000361980:p.Thr74Ser					PKIG_uc002xmh.2_Missense_Mutation_p.T74S|PKIG_uc002xmi.2_Missense_Mutation_p.T74S	p.T74S	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)		6	749	+		Myeloproliferative disorder(115;0.0122)	74						Missense_Mutation	SNP	ENST00000372889.1	37	c.220A>T	CCDS13334.1	.	.	.	.	.	.	.	.	.	.	A	2.375	-0.343390	0.05243	.	.	ENSG00000168734	ENST00000372894;ENST00000372892;ENST00000372891;ENST00000372889;ENST00000372886;ENST00000349959	.	.	.	5.58	0.731	0.18277	.	0.430441	0.24424	N	0.038646	T	0.21841	0.0526	.	.	.	0.27906	N	0.938783	B	0.27264	0.173	B	0.30943	0.122	T	0.30208	-0.9986	8	0.09843	T	0.71	-8.494	8.0899	0.30795	0.6728:0.0:0.3272:0.0	.	74	Q9Y2B9	IPKG_HUMAN	S	74	.	ENSP00000338067:T74S	T	+	1	0	PKIG	42680408	0.985000	0.35326	0.324000	0.25361	0.055000	0.15305	0.834000	0.27518	-0.154000	0.11118	-1.009000	0.02473	ACC		0.597	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127804.1			48	53	0	0	0	0.00361	0	48	53				
PCIF1	63935	broad.mit.edu	37	20	44574995	44574995	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:44574995G>A	ENST00000372409.3	+	14	1949	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	529					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGCCTTCCCCGACACAGACGG	0.637																																							uc002xqs.2		NA																	0				skin(1)	1						c.(1585-1587)GAC>AAC		phosphorylated CTD interacting factor 1							111.0	108.0	109.0					20																	44574995		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44574995G>A	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1585G>A	20.37:g.44574995G>A	ENSP00000361486:p.Asp529Asn					PCIF1_uc002xqt.2_Missense_Mutation_p.D109N|PCIF1_uc002xqu.2_5'Flank	p.D529N	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			14	1899	+			529					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.1585G>A	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913768	0.92178	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.06	4.08	0.47627	Phosphorylated CTD interacting factor 1, WW domain (1);	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.87214	0.2249	9	0.87932	D	0	-32.1374	14.3479	0.66680	0.0:0.1491:0.8509:0.0	.	529	Q9H4Z3	PCIF1_HUMAN	N	529	.	ENSP00000361486:D529N	D	+	1	0	PCIF1	44008402	1.000000	0.71417	0.832000	0.32986	0.988000	0.76386	9.377000	0.97184	1.293000	0.44690	0.462000	0.41574	GAC		0.637	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		32	62	0	0	0	0.002445	0	32	62				
CDH22	64405	broad.mit.edu	37	20	44845556	44845556	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:44845556G>T	ENST00000372262.3	-	4	1147	c.747C>A	c.(745-747)gaC>gaA	p.D249E	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.D249E	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	249	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GACCCGCCATGTCTGTGGCCT	0.642																																							uc002xrm.2		NA																	0				ovary(4)|skin(1)	5						c.(745-747)GAC>GAA		cadherin 22 precursor							96.0	83.0	87.0					20																	44845556		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44845556G>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.747C>A	20.37:g.44845556G>T	ENSP00000361336:p.Asp249Glu					CDH22_uc010ghk.1_Missense_Mutation_p.D249E|CDH22_uc002xrn.1_5'UTR	p.D249E	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			4	1148	-		Myeloproliferative disorder(115;0.0122)	249			Extracellular (Potential).|Cadherin 2.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.747C>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	g	17.07	3.296372	0.60086	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.67865	-0.29;-0.29	4.03	3.05	0.35203	Cadherin (5);Cadherin-like (1);	0.167127	0.51477	D	0.000098	T	0.67850	0.2937	M	0.93678	3.445	0.42926	D	0.994309	P	0.37500	0.597	B	0.27608	0.081	T	0.73119	-0.4083	10	0.87932	D	0	.	8.1717	0.31258	0.1886:0.0:0.8114:0.0	.	249	Q9UJ99	CAD22_HUMAN	E	249	ENSP00000361336:D249E;ENSP00000437790:D249E	ENSP00000361336:D249E	D	-	3	2	CDH22	44278963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.937000	0.56575	1.037000	0.40024	0.531000	0.56144	GAC		0.642	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		20	34	1	0	3.83957e-06	0.00278	4.47793e-06	20	34				
ZMYND8	23613	broad.mit.edu	37	20	45853080	45853081	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:45853080_45853081GC>AA	ENST00000311275.7	-	19	3338_3339	c.3085_3086GC>TT	c.(3085-3087)GCc>TTc	p.A1029F	ZMYND8_ENST00000458360.2_Missense_Mutation_p.A897F|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A1003F|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A977F|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A1056F|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A1003F|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A951F|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A978F|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A1029F|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A983F|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A1029F|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A1049F|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A920F	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1029					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTTGCAGTTGGCGCACCACTGC	0.584																																							uc002xta.1		NA																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(3085-3087)GCC>TTC		zinc finger, MYND-type containing 8 isoform b																																				SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45853080_45853081GC>AA	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3085_3086delinsAA	20.37:g.45853080_45853081delinsAA	ENSP00000312237:p.Ala1029Phe					ZMYND8_uc010ghq.1_Missense_Mutation_p.A660F|ZMYND8_uc010ghr.1_Missense_Mutation_p.A931F|ZMYND8_uc002xst.1_Missense_Mutation_p.A911F|ZMYND8_uc002xsu.1_Missense_Mutation_p.A902F|ZMYND8_uc002xsv.1_Missense_Mutation_p.A957F|ZMYND8_uc002xsw.1_Missense_Mutation_p.A735F|ZMYND8_uc002xsx.1_Missense_Mutation_p.A735F|ZMYND8_uc002xsy.1_Missense_Mutation_p.A958F|ZMYND8_uc002xsz.1_Missense_Mutation_p.A920F|ZMYND8_uc010zxy.1_Missense_Mutation_p.A1056F|ZMYND8_uc002xtb.1_Missense_Mutation_p.A1003F|ZMYND8_uc002xss.2_Missense_Mutation_p.A1029F|ZMYND8_uc010zxz.1_Missense_Mutation_p.A897F|ZMYND8_uc002xtc.1_Missense_Mutation_p.A1003F|ZMYND8_uc002xtd.1_Missense_Mutation_p.A978F|ZMYND8_uc002xte.1_Missense_Mutation_p.A983F|ZMYND8_uc010zya.1_Missense_Mutation_p.A1029F|ZMYND8_uc002xtf.1_Missense_Mutation_p.A1049F|ZMYND8_uc002xsr.1_Missense_Mutation_p.A128F	p.A1029F	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		19	3339_3340	-			1029			MYND-type.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	DNP	ENST00000311275.7	37	c.3085_3086GC>TT																																																																																					0.584	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		27	91	0	0	0	0.004672	0	27	91				
ZMYND8	23613	broad.mit.edu	37	20	45853099	45853099	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:45853099T>A	ENST00000311275.7	-	19	3320	c.3067A>T	c.(3067-3069)Aag>Tag	p.K1023*	ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.K891*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.K997*|ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.K971*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.K1050*|ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.K997*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.K945*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.K972*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.K1023*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.K977*|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.K1023*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.K1043*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.K914*	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1023					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGCTTCTTCTTGGTCTCATCC	0.602																																							uc002xta.1		NA																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(3067-3069)AAG>TAG		zinc finger, MYND-type containing 8 isoform b							234.0	190.0	204.0					20																	45853099		2203	4300	6503	SO:0001587	stop_gained	23613						protein binding|zinc ion binding	g.chr20:45853099T>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3067A>T	20.37:g.45853099T>A	ENSP00000312237:p.Lys1023*					ZMYND8_uc010ghq.1_Nonsense_Mutation_p.K654*|ZMYND8_uc010ghr.1_Nonsense_Mutation_p.K925*|ZMYND8_uc002xst.1_Nonsense_Mutation_p.K905*|ZMYND8_uc002xsu.1_Nonsense_Mutation_p.K896*|ZMYND8_uc002xsv.1_Nonsense_Mutation_p.K951*|ZMYND8_uc002xsw.1_Nonsense_Mutation_p.K729*|ZMYND8_uc002xsx.1_Nonsense_Mutation_p.K729*|ZMYND8_uc002xsy.1_Nonsense_Mutation_p.K952*|ZMYND8_uc002xsz.1_Nonsense_Mutation_p.K914*|ZMYND8_uc010zxy.1_Nonsense_Mutation_p.K1050*|ZMYND8_uc002xtb.1_Nonsense_Mutation_p.K997*|ZMYND8_uc002xss.2_Nonsense_Mutation_p.K1023*|ZMYND8_uc010zxz.1_Nonsense_Mutation_p.K891*|ZMYND8_uc002xtc.1_Nonsense_Mutation_p.K997*|ZMYND8_uc002xtd.1_Nonsense_Mutation_p.K972*|ZMYND8_uc002xte.1_Nonsense_Mutation_p.K977*|ZMYND8_uc010zya.1_Nonsense_Mutation_p.K1023*|ZMYND8_uc002xtf.1_Nonsense_Mutation_p.K1043*|ZMYND8_uc002xsr.1_Nonsense_Mutation_p.K122*	p.K1023*	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		19	3321	-			1023					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Nonsense_Mutation	SNP	ENST00000311275.7	37	c.3067A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	42|42	9.266479|9.266479	0.99118|0.99118	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71324	.|0.3326	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74438	.|-0.3665	.|3	0.02654|.	T|.	1|.	-22.5793|-22.5793	15.543|15.543	0.76070|0.76070	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	972;1023;891;978;1044;997;1023;1050;1023;914;997;945;971|904	.|.	ENSP00000262975:K978X|.	K|Q	-|-	1|2	0|0	ZMYND8|ZMYND8	45286506|45286506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.988000|7.988000	0.88194|0.88194	2.060000|2.060000	0.61445|0.61445	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.602	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		30	100	0	0	0	0.006999	0	30	100				
PTPN1	5770	broad.mit.edu	37	20	49195123	49195123	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:49195123G>A	ENST00000371621.3	+	6	833	c.659G>A	c.(658-660)gGc>gAc	p.G220D	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Missense_Mutation_p.G147D	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	220	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	GCAGGCATCGGCAGGTCTGGA	0.592																																							uc002xvl.2		NA																	0					0						c.(658-660)GGC>GAC		protein tyrosine phosphatase, non-receptor type	Clodronate(DB00720)|Tiludronate(DB01133)						59.0	62.0	61.0					20																	49195123		2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49195123G>A		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.659G>A	20.37:g.49195123G>A	ENSP00000360683:p.Gly220Asp					PTPN1_uc010zys.1_Missense_Mutation_p.G147D	p.G220D	NM_002827	NP_002818	P18031	PTN1_HUMAN			6	833	+		Lung NSC(126;0.163)	220			Tyrosine-protein phosphatase.|Substrate binding (By similarity).		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.659G>A	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371950	0.82573	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.87256	-2.23;-2.23	5.24	5.24	0.73138	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000002	D	0.96620	0.8897	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98481	1.0605	10	0.87932	D	0	.	18.8255	0.92117	0.0:0.0:1.0:0.0	.	220	P18031	PTN1_HUMAN	D	220;147	ENSP00000360683:G220D;ENSP00000437732:G147D	ENSP00000360683:G220D	G	+	2	0	PTPN1	48628530	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	9.790000	0.99075	2.444000	0.82710	0.462000	0.41574	GGC		0.592	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			19	37	0	0	0	0.006122	0	19	37				
NFATC2	4773	broad.mit.edu	37	20	50048654	50048654	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:50048654C>A	ENST00000396009.3	-	9	2891	c.2672G>T	c.(2671-2673)gGg>gTg	p.G891V	NFATC2_ENST00000414705.1_Missense_Mutation_p.G871V|NFATC2_ENST00000609943.1_Missense_Mutation_p.G871V|NFATC2_ENST00000610033.1_Missense_Mutation_p.G672V|NFATC2_ENST00000371564.3_Missense_Mutation_p.G891V|NFATC2_ENST00000609507.1_Missense_Mutation_p.G672V	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	891					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AATGGTCACCCCCGCAGGTAA	0.527																																							uc002xwd.2		NA																	0				ovary(2)	2						c.(2671-2673)GGG>GTG		nuclear factor of activated T-cells,							175.0	155.0	162.0					20																	50048654		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048654C>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2672G>T	20.37:g.50048654C>A	ENSP00000379330:p.Gly891Val					NFATC2_uc002xwc.2_Missense_Mutation_p.G891V|NFATC2_uc010zyv.1_Missense_Mutation_p.G672V|NFATC2_uc010zyw.1_Missense_Mutation_p.G672V|NFATC2_uc010zyx.1_Missense_Mutation_p.G871V|NFATC2_uc010zyy.1_Missense_Mutation_p.G672V|NFATC2_uc010zyz.1_Missense_Mutation_p.G672V|NFATC2_uc002xwe.2_Missense_Mutation_p.G871V	p.G891V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			9	2892	-	Hepatocellular(150;0.248)		891					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2672G>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027568	0.54683	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.15372	2.43;2.44;2.45	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000004	T	0.40094	0.1103	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.999;0.983;0.989	T	0.06445	-1.0826	10	0.51188	T	0.08	-10.215	19.2321	0.93843	0.0:1.0:0.0:0.0	.	871;871;891;891	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	V	891;891;871	ENSP00000360619:G891V;ENSP00000379330:G891V;ENSP00000396471:G871V	ENSP00000360619:G891V	G	-	2	0	NFATC2	49482061	1.000000	0.71417	0.996000	0.52242	0.546000	0.35178	5.714000	0.68422	2.533000	0.85409	0.591000	0.81541	GGG		0.527	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		35	76	1	0	8.73648e-17	0.004289	1.40892e-16	35	76				
ATP9A	10079	broad.mit.edu	37	20	50255930	50255930	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:50255930C>G	ENST00000338821.5	-	15	1884	c.1620G>C	c.(1618-1620)caG>caC	p.Q540H	ATP9A_ENST00000311637.5_Missense_Mutation_p.Q404H|ATP9A_ENST00000402822.1_Missense_Mutation_p.Q419H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	540					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGGGAAGATCTGTAGGATGG	0.522											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002xwg.1		NA																	0				ovary(4)	4						c.(1618-1620)CAG>CAC		ATPase, class II, type 9A							189.0	158.0	169.0					20																	50255930		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50255930C>G	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1620G>C	20.37:g.50255930C>G	ENSP00000342481:p.Gln540His		OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	ATP9A_uc010gih.1_Missense_Mutation_p.Q404H|ATP9A_uc002xwf.1_Intron	p.Q540H	NM_006045	NP_006036	O75110	ATP9A_HUMAN			15	1620	-			540			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1620G>C	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159842	0.38119	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.70164	-0.46;-0.46;-0.46	5.21	1.83	0.25207	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	N	0.26130	0.795	0.80722	D	1	D;B	0.60575	0.988;0.006	D;B	0.72338	0.977;0.062	T	0.66602	-0.5882	10	0.51188	T	0.08	-29.2824	10.4875	0.44731	0.0:0.7204:0.0:0.2796	.	419;540	O75110-2;O75110	.;ATP9A_HUMAN	H	404;540;419	ENSP00000309086:Q404H;ENSP00000342481:Q540H;ENSP00000385875:Q419H	ENSP00000309086:Q404H	Q	-	3	2	ATP9A	49689337	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	1.276000	0.33156	0.587000	0.29643	0.655000	0.94253	CAG		0.522	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		37	71	0	0	0	0.005524	0	37	71				
ZFP64	55734	broad.mit.edu	37	20	50803371	50803371	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:50803371C>A	ENST00000216923.4	-	2	635	c.286G>T	c.(286-288)Gtt>Ttt	p.V96F	ZFP64_ENST00000371518.2_Splice_Site_p.V96F|ZFP64_ENST00000346617.4_Splice_Site_p.G96C|ZFP64_ENST00000361387.2_Splice_Site_p.V96F|ZFP64_ENST00000371515.4_Splice_Site_p.V94F	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAGCTGTACCTGTGATTGTC	0.557																																							uc002xwl.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(286-288)GTT>TTT		zinc finger protein 64 isoform a							108.0	100.0	102.0					20																	50803371		2203	4300	6503	SO:0001630	splice_region_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50803371C>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.286+1G>T	20.37:g.50803371C>A						ZFP64_uc002xwk.2_Missense_Mutation_p.V96F|ZFP64_uc002xwm.2_Missense_Mutation_p.V94F|ZFP64_uc002xwn.2_Missense_Mutation_p.G96C	p.V96F	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			2	635	-			96					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.286G>T	CCDS13440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.553905|4.553905	0.86231|0.86231	.|.	.|.	ENSG00000020256|ENSG00000020256	ENST00000346617|ENST00000371518;ENST00000361387;ENST00000216923;ENST00000371515;ENST00000371516	T|T;T;T;T	0.09445|0.08984	2.98|3.16;3.17;3.04;3.03	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.52532	.|D	.|0.000078	T|T	0.26268|0.26268	0.0641|0.0641	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.99998|0.99998	D|D;D;D	0.89917|0.71674	1.0|0.997;0.997;0.998	D|D;D;D	0.97110|0.78314	1.0|0.91;0.91;0.991	T|T	0.00111|0.00111	-1.2046|-1.2046	8|9	.|.	.|.	.|.	-9.987|-9.987	19.5665|19.5665	0.95395|0.95395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	96|94;96;96	Q9NPA5-2|Q5JWM1;Q9NPA5;Q9NTW7	.|.;ZF64A_HUMAN;ZF64B_HUMAN	C|F	96|96;96;96;94;96	ENSP00000344615:G96C|ENSP00000360573:V96F;ENSP00000355179:V96F;ENSP00000216923:V96F;ENSP00000360570:V94F	.|.	G|V	-|-	1|1	0|0	ZFP64|ZFP64	50236778|50236778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	5.263000|5.263000	0.65507|0.65507	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	GGT|GTT		0.557	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	Missense_Mutation	19	26	1	0	1.33834e-09	0.007413	1.73886e-09	19	26				
ZNF831	128611	broad.mit.edu	37	20	57768079	57768079	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:57768079G>T	ENST00000371030.2	+	1	2005	c.2005G>T	c.(2005-2007)Ggc>Tgc	p.G669C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	669							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGGAGCTCAGGCACAGTCCC	0.622																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(2005-2007)GGC>TGC		zinc finger protein 831							38.0	48.0	45.0					20																	57768079		2088	4213	6301	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768079G>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.2005G>T	20.37:g.57768079G>T	ENSP00000360069:p.Gly669Cys						p.G669C	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2005	+	all_lung(29;0.0085)		669					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2005G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506987	0.44558	.	.	ENSG00000124203	ENST00000371030	T	0.08984	3.03	4.58	2.59	0.31030	.	0.253376	0.27764	N	0.017952	T	0.11707	0.0285	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	P	0.57371	0.819	T	0.07347	-1.0777	10	0.72032	D	0.01	-1.7204	7.3435	0.26650	0.0924:0.1695:0.7382:0.0	.	669	Q5JPB2	ZN831_HUMAN	C	669	ENSP00000360069:G669C	ENSP00000360069:G669C	G	+	1	0	ZNF831	57201474	0.029000	0.19370	0.001000	0.08648	0.035000	0.12851	1.343000	0.33930	0.354000	0.24105	0.313000	0.20887	GGC		0.622	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		19	22	1	0	1.67942e-08	0.006122	2.1089e-08	19	22				
CDH26	60437	broad.mit.edu	37	20	58564199	58564199	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:58564199G>T	ENST00000244047.5	+	9	1575	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	CDH26_ENST00000348616.4_Missense_Mutation_p.D422Y			Q8IXH8	CAD26_HUMAN	cadherin 26	422	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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TAATGCCATGGATCCAGACAG	0.527																																							uc002ybe.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1264-1266)GAT>TAT		cadherin-like 26 isoform a							135.0	161.0	152.0					20																	58564199		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58564199G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1264G>T	20.37:g.58564199G>T	ENSP00000244047:p.Asp422Tyr					CDH26_uc002ybf.1_Missense_Mutation_p.D2Y|CDH26_uc010zzy.1_RNA	p.D422Y	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1564	+	all_lung(29;0.00963)		422			Extracellular (Potential).|Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1264G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.66|18.66	3.670798|3.670798	0.67814|0.67814	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.75260|.	-0.92;-0.92|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.063147|.	0.64402|.	D|.	0.000014|.	D|D	0.89301|0.89301	0.6676|0.6676	H|H	0.98866|0.98866	4.355|4.355	0.53688|0.53688	D|D	0.999973|0.999973	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93314|0.93314	0.6687|0.6687	10|5	0.87932|.	D|.	0|.	.|.	16.1528|16.1528	0.81634|0.81634	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	422|.	Q8IXH8-4|.	.|.	Y|C	422|13	ENSP00000244047:D422Y;ENSP00000339390:D422Y|.	ENSP00000244047:D422Y|.	D|W	+|+	1|3	0|0	CDH26|CDH26	57997594|57997594	1.000000|1.000000	0.71417|0.71417	0.050000|0.050000	0.19076|0.19076	0.016000|0.016000	0.09150|0.09150	5.734000|5.734000	0.68580|0.68580	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.527	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		91	143	1	0	9.79205e-48	0.00361	2.06576e-47	91	143				
CDH4	1002	broad.mit.edu	37	20	60348060	60348060	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:60348060C>T	ENST00000360469.5	+	4	486	c.398C>T	c.(397-399)cCg>cTg	p.P133L	CDH4_ENST00000543233.1_Splice_Site_p.P59L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	133					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)			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)			CAAATAAAGCCGCAGAAAGGA	0.572																																							uc002ybn.1		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(397-399)CCG>CTG		cadherin 4, type 1 preproprotein							37.0	38.0	37.0					20																	60348060		2203	4300	6503	SO:0001630	splice_region_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60348060C>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.397-1C>T	20.37:g.60348060C>T						CDH4_uc002ybp.1_Missense_Mutation_p.P59L	p.P133L	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		4	412	+			133					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.398C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	6.347	0.432057	0.12045	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.55052	0.54;0.54	4.14	-5.89	0.02282	Cadherin-like (1);	4.142400	0.00357	N	0.000035	T	0.26738	0.0654	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10520	-1.0626	9	.	.	.	.	4.8851	0.13699	0.36:0.3432:0.0:0.2968	.	133	P55283	CADH4_HUMAN	L	133;41;59	ENSP00000353656:P133L;ENSP00000443301:P59L	.	P	+	2	0	CDH4	59781455	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.349000	0.01093	-0.669000	0.05289	0.655000	0.94253	CCG		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	Missense_Mutation	6	18	0	0	0	0.001984	0	6	18				
DIDO1	11083	broad.mit.edu	37	20	61512609	61512609	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:61512609C>G	ENST00000266070.4	-	16	5024	c.4699G>C	c.(4699-4701)Gcc>Ccc	p.A1567P	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1567P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1567					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCTCAGTGGCCAGGCGCCTC	0.701																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(4699-4701)GCC>CCC		death inducer-obliterator 1 isoform c							16.0	21.0	19.0					20																	61512609		2079	4082	6161	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512609C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4699G>C	20.37:g.61512609C>G	ENSP00000266070:p.Ala1567Pro					DIDO1_uc002yds.1_Missense_Mutation_p.A1567P	p.A1567P	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4963	-	Breast(26;5.68e-08)		1567					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4699G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860852	0.71834	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09911	2.93;2.93	5.47	4.52	0.55395	.	0.369991	0.19340	U	0.116666	T	0.14098	0.0341	L	0.32530	0.975	0.38932	D	0.957964	D	0.54397	0.966	P	0.52159	0.691	T	0.03673	-1.1014	10	0.54805	T	0.06	-22.0048	9.2781	0.37711	0.0:0.7791:0.1442:0.0767	.	1567	Q9BTC0	DIDO1_HUMAN	P	1567	ENSP00000266070:A1567P;ENSP00000378752:A1567P	ENSP00000266070:A1567P	A	-	1	0	DIDO1	60983054	0.012000	0.17670	0.005000	0.12908	0.001000	0.01503	1.382000	0.34374	1.296000	0.44742	-0.150000	0.13652	GCC		0.701	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		33	23	0	0	0	0.002096	0	33	23				
KCNQ2	3785	broad.mit.edu	37	20	62046337	62046337	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:62046337T>G	ENST00000359125.2	-	13	1618	c.1444A>C	c.(1444-1446)Aag>Cag	p.K482Q	KCNQ2_ENST00000370224.1_Missense_Mutation_p.K454Q|KCNQ2_ENST00000344462.4_Missense_Mutation_p.K452Q|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K454Q|KCNQ2_ENST00000357249.2_Missense_Mutation_p.K464Q|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K482Q|KCNQ2_ENST00000354587.3_Missense_Mutation_p.K454Q	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	482					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTCCAGCTCTTGGGCACCTTG	0.692																																							uc002yey.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1444-1446)AAG>CAG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						51.0	58.0	56.0					20																	62046337		2203	4299	6502	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62046337T>G	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1444A>C	20.37:g.62046337T>G	ENSP00000352035:p.Lys482Gln					KCNQ2_uc002yez.1_Missense_Mutation_p.K452Q|KCNQ2_uc002yfa.1_Missense_Mutation_p.K464Q|KCNQ2_uc002yfb.1_Missense_Mutation_p.K454Q	p.K482Q	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		13	1621	-	all_cancers(38;1.24e-11)		482			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1444A>C	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114262	0.77210	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99714	-6.5;-6.5;-6.5;-6.5;-6.5;-6.5;-6.5;-6.5;-6.5;-6.5	5.26	5.26	0.73747	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.175827	0.48286	D	0.000197	D	0.99324	0.9763	M	0.74647	2.275	0.52501	D	0.999954	B;B;B;P	0.36768	0.214;0.372;0.372;0.569	B;B;B;B	0.43508	0.097;0.131;0.131;0.422	D	0.99177	1.0866	10	0.87932	D	0	-36.0244	15.1496	0.72687	0.0:0.0:0.0:1.0	.	454;464;452;482	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	Q	464;482;452;454;482;452;454;442;454;454	ENSP00000349789:K464Q;ENSP00000352035:K482Q;ENSP00000359246:K452Q;ENSP00000346601:K454Q;ENSP00000352718:K482Q;ENSP00000399612:K452Q;ENSP00000353668:K454Q;ENSP00000339611:K442Q;ENSP00000359244:K454Q;ENSP00000359242:K454Q	ENSP00000339611:K442Q	K	-	1	0	KCNQ2	61516781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.526000	0.81920	1.991000	0.58162	0.391000	0.25812	AAG		0.692	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		33	51	0	0	0	0.002096	0	33	51				
EEF1A2	1917	broad.mit.edu	37	20	62126425	62126425	+	Silent	SNP	C	C	A	rs143957818		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:62126425C>A	ENST00000298049.7	-	3	424	c.354G>T	c.(352-354)gcG>gcT	p.A118A	EEF1A2_ENST00000217182.3_Silent_p.A118A			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	118	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGCCCACGCCCGCCGCCACGA	0.711																																							uc002yfd.1		NA																	0					0						c.(352-354)GCG>GCT		eukaryotic translation elongation factor 1 alpha							42.0	49.0	46.0					20																	62126425		2200	4289	6489	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62126425C>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.354G>T	20.37:g.62126425C>A						EEF1A2_uc002yfe.1_Silent_p.A118A|EEF1A2_uc010gkg.1_Silent_p.A118A	p.A118A	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		3	455	-	all_cancers(38;9.45e-12)		118					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.354G>T	CCDS13522.1																																																																																				0.711	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		26	48	1	0	4.4194e-11	0.002836	6.12182e-11	26	48				
C20orf195	79025	broad.mit.edu	37	20	62187822	62187822	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:62187822A>T	ENST00000370098.3	+	2	898	c.806A>T	c.(805-807)gAc>gTc	p.D269V	C20orf195_ENST00000370097.1_Missense_Mutation_p.D269V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	269	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGCACCTTCGACGTCCGAAAC	0.627																																							uc002yfj.2		NA																	0					0						c.(805-807)GAC>GTC		hypothetical protein LOC79025							100.0	101.0	100.0					20																	62187822		2203	4300	6503	SO:0001583	missense	79025							g.chr20:62187822A>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.806A>T	20.37:g.62187822A>T	ENSP00000359116:p.Asp269Val					C20orf195_uc002yfk.2_Missense_Mutation_p.D269V	p.D269V	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	898	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		269						Missense_Mutation	SNP	ENST00000370098.3	37	c.806A>T	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.728785	0.00694	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.31	4.2	0.49525	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.403320	0.21409	N	0.075018	T	0.21631	0.0521	N	0.11560	0.145	0.28815	N	0.898028	B	0.16396	0.017	B	0.13407	0.009	T	0.18209	-1.0344	9	0.12430	T	0.62	-15.8465	10.2509	0.43368	0.7214:0.0:0.0:0.2786	.	269	Q9BVV2	CT195_HUMAN	V	269	.	ENSP00000359115:D269V	D	+	2	0	C20orf195	61658266	0.733000	0.28132	0.141000	0.22245	0.124000	0.20399	2.651000	0.46674	0.840000	0.34995	-0.333000	0.08304	GAC		0.627	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		37	88	0	0	0	0.006999	0	37	88				
MYT1	4661	broad.mit.edu	37	20	62863576	62863576	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:62863576G>T	ENST00000328439.1	+	19	3099	c.2735G>T	c.(2734-2736)aGg>aTg	p.R912M	MYT1_ENST00000536311.1_Missense_Mutation_p.R939M	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCTCTCACAGGAGCGCATCC	0.632																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(2734-2736)AGG>ATG		myelin transcription factor 1							54.0	55.0	55.0					20																	62863576		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62863576G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2735G>T	20.37:g.62863576G>T	ENSP00000327465:p.Arg912Met					MYT1_uc002yij.2_Missense_Mutation_p.R571M	p.R912M	NM_004535	NP_004526	Q01538	MYT1_HUMAN			19	3099	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		912			C2HC-type 6.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2735G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761762	0.49468	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.58060	0.4;0.36	4.98	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.76350	0.3975	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81992	-0.0678	10	0.87932	D	0	-17.0426	15.1044	0.72310	0.0:0.1424:0.8576:0.0	.	939;912	F5H7M8;Q01538	.;MYT1_HUMAN	M	912;939	ENSP00000327465:R912M;ENSP00000442412:R939M	ENSP00000327465:R912M	R	+	2	0	MYT1	62334020	1.000000	0.71417	0.748000	0.31131	0.562000	0.35680	9.590000	0.98238	1.057000	0.40506	0.563000	0.77884	AGG		0.632	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		22	36	1	0	7.45023e-12	0.010504	1.05458e-11	22	36				
CLDN8	9073	broad.mit.edu	37	21	31588042	31588042	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:31588042C>A	ENST00000399899.1	-	1	349	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	CLDN8_ENST00000286809.1_Missense_Mutation_p.D68Y	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	68					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						AGCAGGGAATCATAGATTTTG	0.488																																							uc002ynu.1		NA																	0					0						c.(202-204)GAT>TAT		claudin 8							100.0	92.0	94.0					21																	31588042		2203	4300	6503	SO:0001583	missense	9073				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31588042C>A	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.202G>T	21.37:g.31588042C>A	ENSP00000382783:p.Asp68Tyr						p.D68Y	NM_199328	NP_955360	P56748	CLD8_HUMAN			1	277	-			68			Extracellular (Potential).		D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	c.202G>T	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156815	0.78114	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.91996	-2.95;-2.95	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.96097	0.8728	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95322	0.8421	10	0.44086	T	0.13	.	18.5801	0.91167	0.0:1.0:0.0:0.0	.	68	P56748	CLD8_HUMAN	Y	68	ENSP00000382783:D68Y;ENSP00000286809:D68Y	ENSP00000286809:D68Y	D	-	1	0	CLDN8	30509913	1.000000	0.71417	0.502000	0.27614	0.961000	0.63080	7.569000	0.82380	2.791000	0.96007	0.650000	0.86243	GAT		0.488	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328		23	8	1	0	9.95505e-16	0.002299	1.56641e-15	23	8				
CLIC6	54102	broad.mit.edu	37	21	36088700	36088700	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:36088700A>G	ENST00000360731.3	+	7	2035	c.2035A>G	c.(2035-2037)Aga>Gga	p.R679G	CLIC6_ENST00000349499.2_Missense_Mutation_p.R661G			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	679	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGCTTATGCTAGAGATGAGTT	0.373																																							uc010gmt.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2035-2037)AGA>GGA		chloride intracellular channel 6							143.0	134.0	137.0					21																	36088700		2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36088700A>G	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2035A>G	21.37:g.36088700A>G	ENSP00000353959:p.Arg679Gly					CLIC6_uc002yuf.1_Missense_Mutation_p.R661G	p.R679G	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN			7	2035	+			679			GST C-terminal.		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.2035A>G		.	.	.	.	.	.	.	.	.	.	A	18.11	3.550791	0.65311	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.95788	-3.81;-3.81	5.85	0.277	0.15668	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.056220	0.64402	D	0.000002	D	0.97971	0.9332	M	0.92604	3.325	0.42641	D	0.993418	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.98771	1.0728	10	0.87932	D	0	-8.4446	15.8935	0.79318	0.3752:0.6248:0.0:0.0	.	679;661	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	G	679;661	ENSP00000353959:R679G;ENSP00000290332:R661G	ENSP00000290332:R661G	R	+	1	2	CLIC6	35010570	0.155000	0.22806	0.260000	0.24451	0.802000	0.45316	0.884000	0.28214	0.097000	0.17492	0.460000	0.39030	AGA		0.373	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			24	7	0	0	0	0.00278	0	24	7				
ABCG1	9619	broad.mit.edu	37	21	43711290	43711290	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:43711290C>T	ENST00000361802.2	+	12	1663	c.1518C>T	c.(1516-1518)gaC>gaT	p.D506D	ABCG1_ENST00000347800.2_Silent_p.D491D|ABCG1_ENST00000398437.1_Silent_p.D652D|ABCG1_ENST00000343687.3_Silent_p.D505D|ABCG1_ENST00000340588.4_Silent_p.D614D|ABCG1_ENST00000398457.2_Silent_p.D496D|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.D494D	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	506	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATGGCAGACGTGCCCTTTC	0.532																																							uc002zaq.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1516-1518)GAC>GAT		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						80.0	62.0	68.0					21																	43711290		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43711290C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1518C>T	21.37:g.43711290C>T						ABCG1_uc002zan.2_Silent_p.D496D|ABCG1_uc002zam.2_Silent_p.D472D|ABCG1_uc002zao.2_Silent_p.D491D|ABCG1_uc002zap.2_Silent_p.D494D|ABCG1_uc002zar.2_Silent_p.D505D|ABCG1_uc011aev.1_Silent_p.D517D|ABCG1_uc010gpb.1_Missense_Mutation_p.R147C	p.D506D	NM_004915	NP_004906	P45844	ABCG1_HUMAN			12	1624	+			506			ABC transmembrane type-2.|Cytoplasmic (Potential).		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.1518C>T	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	4.735	0.136621	0.09032	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.27	-1.78	0.07957	.	.	.	.	.	T	0.55305	0.1912	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51957	-0.8639	4	.	.	.	-41.4877	10.0841	0.42408	0.0:0.3249:0.0:0.6751	.	.	.	.	C	242;230;230	.	.	R	+	1	0	ABCG1	42584359	0.048000	0.20356	0.885000	0.34714	0.593000	0.36681	-0.743000	0.04845	-0.196000	0.10366	0.591000	0.81541	CGT		0.532	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		12	3	0	0	0	0.001368	0	12	3				
COL6A2	1292	broad.mit.edu	37	21	47540982	47540982	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr21:47540982G>A	ENST00000300527.4	+	17	1507	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	COL6A2_ENST00000310645.5_Missense_Mutation_p.R468Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R468Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R468Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.R468Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	468	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGAGACCGAGGCTTGCCT	0.637																																							uc002zia.1		NA																	0				central_nervous_system(7)|ovary(1)	8						c.(1402-1404)CGA>CAA		alpha 2 type VI collagen isoform 2C2 precursor							48.0	52.0	50.0					21																	47540982		2203	4297	6500	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47540982G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1403G>A	21.37:g.47540982G>A	ENSP00000300527:p.Arg468Gln					COL6A2_uc002zhy.1_Missense_Mutation_p.R468Q|COL6A2_uc002zhz.1_Missense_Mutation_p.R468Q|COL6A2_uc002zib.1_Intron	p.R468Q	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	17	1485	+	Breast(49;0.245)		468			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1403G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186400	0.57909	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.93811	-3.29;-3.29;-2.96;-2.96;-3.29;-3.24	4.79	4.79	0.61399	.	0.537295	0.19308	N	0.117471	D	0.87954	0.6308	L	0.56340	1.77	0.30862	N	0.733404	P;B;B	0.41232	0.743;0.196;0.433	B;B;B	0.32980	0.156;0.021;0.071	D	0.84111	0.0401	10	0.10636	T	0.68	-12.0577	10.4327	0.44417	0.1007:0.0:0.8993:0.0	.	468;468;468	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	Q	468;468;468;468;468;9	ENSP00000300527:R468Q;ENSP00000350497:R468Q;ENSP00000312529:R468Q;ENSP00000387115:R468Q;ENSP00000380870:R468Q;ENSP00000395751:R9Q	ENSP00000300527:R468Q	R	+	2	0	COL6A2	46365410	0.043000	0.20138	0.825000	0.32803	0.944000	0.59088	1.518000	0.35877	2.217000	0.71921	0.591000	0.81541	CGA		0.637	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			14	10	0	0	0	0.003163	0	14	10				
CCT8L2	150160	broad.mit.edu	37	22	17073042	17073042	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:17073042C>A	ENST00000359963.3	-	1	658	c.399G>T	c.(397-399)cgG>cgT	p.R133R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	133					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGTAGGCCTCCCGGAGCTGCG	0.647																																							uc002zlp.1		NA																	0				ovary(1)	1						c.(397-399)CGG>CGT		T-complex protein 1							43.0	39.0	40.0					22																	17073042		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073042C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.399G>T	22.37:g.17073042C>A							p.R133R	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	659	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	133					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.399G>T	CCDS13738.1																																																																																				0.647	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			8	21	1	0	0.000274275	0.004482	0.000296559	8	21				
MICAL3	57553	broad.mit.edu	37	22	18300138	18300138	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:18300138G>A	ENST00000441493.2	-	26	5641	c.5289C>T	c.(5287-5289)acC>acT	p.T1763T	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1763					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGCTGGAGGGGGTGCTGGGGC	0.642																																							uc002zng.3		NA																	0					0						c.(5287-5289)ACC>ACT		microtubule associated monoxygenase, calponin							17.0	20.0	19.0					22																	18300138		1989	4147	6136	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300138G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5289C>T	22.37:g.18300138G>A						MICAL3_uc011agl.1_Silent_p.T1679T|MICAL3_uc010gre.1_5'Flank	p.T1763T	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	5642	-		all_epithelial(15;0.198)	1763					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.5289C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	7.827	0.719068	0.15372	.	.	ENSG00000093100	ENST00000252134	.	.	.	4.5	-4.86	0.03132	.	.	.	.	.	T	0.35941	0.0949	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35649	-0.9780	4	.	.	.	.	1.157	0.01798	0.4061:0.118:0.1217:0.3542	.	.	.	.	L	745	.	.	P	-	2	0	XXbac-B461K10.4	16680138	0.375000	0.25089	0.883000	0.34634	0.857000	0.48899	-0.299000	0.08254	-0.944000	0.03686	-0.291000	0.09656	CCC		0.642	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			3	6	0	0	0	0.004672	0	3	6				
RTN4R	65078	broad.mit.edu	37	22	20229571	20229571	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:20229571C>A	ENST00000043402.7	-	2	1523	c.1085G>T	c.(1084-1086)cGc>cTc	p.R362L	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	362					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GGGCGGCACGCGTCCCTTCAG	0.672																																							uc002zrv.2		NA																	0					0						c.(1084-1086)CGC>CTC		reticulon 4 receptor precursor							30.0	31.0	31.0					22																	20229571		2201	4287	6488	SO:0001583	missense	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20229571C>A	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.1085G>T	22.37:g.20229571C>A	ENSP00000043402:p.Arg362Leu					RTN4R_uc002zru.2_Missense_Mutation_p.R134L	p.R362L	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN			2	1286	-	Colorectal(54;0.0993)		362					D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	c.1085G>T	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.56|10.56	1.383478|1.383478	0.25031|0.25031	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.62364	.|0.03	3.72|3.72	1.32|1.32	0.21799|0.21799	.|.	.|.	.|.	.|.	.|.	T|T	0.44030|0.44030	0.1274|0.1274	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.45829	.|0.494	T|T	0.24621|0.24621	-1.0155|-1.0155	5|9	.|0.27785	.|T	.|0.31	.|.	2.9464|2.9464	0.05847|0.05847	0.2743:0.5696:0.0:0.1561|0.2743:0.5696:0.0:0.1561	.|.	.|362	.|Q9BZR6	.|RTN4R_HUMAN	S|L	382;448|362	.|ENSP00000043402:R362L	.|ENSP00000043402:R362L	A|R	-|-	1|2	0|0	RTN4R|RTN4R	18609571|18609571	0.696000|0.696000	0.27757|0.27757	0.161000|0.161000	0.22692|0.22692	0.174000|0.174000	0.22865|0.22865	1.844000|1.844000	0.39269|0.39269	0.719000|0.719000	0.32188|0.32188	0.313000|0.313000	0.20887|0.20887	GCG|CGC		0.672	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			14	21	1	0	0.000219431	0.00245	0.000240547	14	21				
MAPK1	5594	broad.mit.edu	37	22	22143003	22143003	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:22143003T>A	ENST00000215832.6	-	5	892	c.704A>T	c.(703-705)gAc>gTc	p.D235V	MAPK1_ENST00000544786.1_Missense_Mutation_p.D235V|MAPK1_ENST00000398822.3_Missense_Mutation_p.D235V	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|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)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GTTCAGCTGGTCAAGATAATG	0.438																																							uc002zvn.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(703-705)GAC>GTC		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						84.0	70.0	75.0					22																	22143003		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22143003T>A	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.704A>T	22.37:g.22143003T>A	ENSP00000215832:p.Asp235Val					MAPK1_uc002zvo.2_Missense_Mutation_p.D235V|MAPK1_uc010gtk.1_Missense_Mutation_p.D235V	p.D235V	NM_002745	NP_002736	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	5	944	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	235			Protein kinase.		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.704A>T	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.910207	0.92107	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.68624	-0.34;-0.34;-0.34	5.56	5.56	0.83823	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	0.83431	0.5253	M	0.84433	2.695	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.984;0.986	D	0.86441	0.1767	10	0.87932	D	0	-3.0765	15.7124	0.77641	0.0:0.0:0.0:1.0	.	235;235	A8CZ64;P28482	.;MK01_HUMAN	V	235;223;235;235	ENSP00000215832:D235V;ENSP00000381803:D235V;ENSP00000440842:D235V	ENSP00000215832:D235V	D	-	2	0	MAPK1	20473003	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.808000	0.86044	2.093000	0.63338	0.533000	0.62120	GAC		0.438	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			16	25	0	0	0	0.004007	0	16	25				
GSTT2	2953	broad.mit.edu	37	22	24323170	24323170	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:24323170C>T	ENST00000215780.5	+	2	194	c.144C>T	c.(142-144)atC>atT	p.I48I	GSTT2_ENST00000402588.3_Silent_p.I48I|DDT_ENST00000350608.3_5'Flank|DDT_ENST00000404092.1_5'Flank	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	48	GST N-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			lung(1)	1						TCTTGCAGATCAACAGCCTGG	0.547																																							uc002zzb.3		NA																	0					0						c.(142-144)ATC>ATT		glutathione S-transferase theta 2							185.0	165.0	172.0					22																	24323170		2203	4294	6497	SO:0001819	synonymous_variant	2953					cytoplasm	glutathione transferase activity	g.chr22:24323170C>T	L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.144C>T	22.37:g.24323170C>T						DDT_uc002zza.3_5'Flank|GSTT2_uc002zzc.3_Silent_p.I48I	p.I48I	NM_000854	NP_000845	P0CG30	GSTT2_HUMAN			2	219	+			48			GST N-terminal.		O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	ENST00000215780.5	37	c.144C>T	CCDS13821.1																																																																																				0.547	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320080.1	NM_000854		33	68	0	0	0	0.00361	0	33	68				
ADRBK2	157	broad.mit.edu	37	22	26110499	26110499	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:26110499G>T	ENST00000324198.6	+	18	1808	c.1616G>T	c.(1615-1617)aGg>aTg	p.R539M	RNA5SP494_ENST00000410653.1_RNA	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	539					receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ATCGAGGCCAGGAAGAGAGCT	0.383																																							uc003abx.3		NA																	0				lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7						c.(1615-1617)AGG>ATG		beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)						62.0	59.0	60.0					22																	26110499		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26110499G>T	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1616G>T	22.37:g.26110499G>T	ENSP00000317578:p.Arg539Met					ADRBK2_uc003abw.2_Missense_Mutation_p.R426M|ADRBK2_uc003aby.3_RNA	p.R539M	NM_005160	NP_005151	P35626	ARBK2_HUMAN			18	1763	+			539					Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1616G>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905927	0.92107	.	.	ENSG00000100077	ENST00000324198	T	0.59772	0.24	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	L	0.36672	1.1	0.80722	D	1	P	0.46512	0.879	P	0.48677	0.586	T	0.63404	-0.6645	10	0.87932	D	0	-33.9071	18.6268	0.91342	0.0:0.0:1.0:0.0	.	539	P35626	ARBK2_HUMAN	M	539	ENSP00000317578:R539M	ENSP00000317578:R539M	R	+	2	0	ADRBK2	24440499	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.968000	0.93407	2.715000	0.92844	0.655000	0.94253	AGG		0.383	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		9	12	1	0	3.09899e-07	0.004482	3.73663e-07	9	12				
PATZ1	23598	broad.mit.edu	37	22	31741545	31741545	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:31741545T>C	ENST00000266269.5	-	1	673	c.44A>G	c.(43-45)tAc>tGc	p.Y15C	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000351933.4_Missense_Mutation_p.Y15C|PATZ1_ENST00000215919.3_Missense_Mutation_p.Y15C|PATZ1_ENST00000405309.3_Missense_Mutation_p.Y15C	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	15					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTGGTATGTGTAGCAGCCAGA	0.682																																							uc003akq.2		NA																EWSR1/PATZ1(2)	0				soft_tissue(2)	2						c.(43-45)TAC>TGC		POZ (BTB) and AT hook containing zinc finger 1							46.0	41.0	43.0					22																	31741545		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31741545T>C	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.44A>G	22.37:g.31741545T>C	ENSP00000266269:p.Tyr15Cys					PATZ1_uc003akp.2_Missense_Mutation_p.Y15C|PATZ1_uc003akr.2_Missense_Mutation_p.Y15C|PATZ1_uc003aks.2_Missense_Mutation_p.Y15C|uc003akt.2_5'Flank	p.Y15C	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			1	705	-			15					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.44A>G	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.593083	0.28357	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	3.98	2.91	0.33838	BTB/POZ fold (1);	0.550739	0.17647	N	0.166833	T	0.35770	0.0943	L	0.31578	0.945	0.58432	D	0.999999	D;P;D;D	0.89917	0.999;0.88;1.0;0.986	D;P;D;P	0.83275	0.996;0.561;0.996;0.477	T	0.06807	-1.0806	10	0.87932	D	0	-15.0225	9.5607	0.39366	0.0:0.0:0.1778:0.8222	.	15;15;15;15	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	C	15	ENSP00000266269:Y15C;ENSP00000384173:Y15C;ENSP00000337520:Y15C;ENSP00000215919:Y15C	ENSP00000215919:Y15C	Y	-	2	0	PATZ1	30071545	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.087000	0.41653	0.498000	0.27948	-0.653000	0.03907	TAC		0.682	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		10	18	0	0	0	0.001855	0	10	18				
APOL6	80830	broad.mit.edu	37	22	36055215	36055215	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:36055215A>C	ENST00000409652.4	+	3	880	c.604A>C	c.(604-606)Aag>Cag	p.K202Q		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	202					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CAATGCTACCAAGCGTCTTCT	0.502																																							uc003aoe.2		NA																	0					0						c.(604-606)AAG>CAG		apolipoprotein L6							61.0	65.0	64.0					22																	36055215		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36055215A>C	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.604A>C	22.37:g.36055215A>C	ENSP00000386280:p.Lys202Gln					APOL6_uc003aod.2_RNA	p.K202Q	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN			3	898	+			202					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.604A>C	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.757929	0.49468	.	.	ENSG00000221963	ENST00000409652	T	0.03635	3.86	3.96	2.93	0.34026	.	0.149217	0.42053	D	0.000765	T	0.12860	0.0312	M	0.69523	2.12	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03103	-1.1072	10	0.48119	T	0.1	-31.2734	7.2534	0.26162	0.8936:0.0:0.1064:0.0	.	202	Q9BWW8	APOL6_HUMAN	Q	202	ENSP00000386280:K202Q	ENSP00000386280:K202Q	K	+	1	0	APOL6	34385161	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.136000	0.15974	0.695000	0.31675	0.533000	0.62120	AAG		0.502	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		21	45	0	0	0	0.010504	0	21	45				
TRIOBP	11078	broad.mit.edu	37	22	38120968	38120968	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:38120968G>T	ENST00000406386.3	+	7	2660	c.2405G>T	c.(2404-2406)aGa>aTa	p.R802I		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	802					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCTCAGAGCCTCCTCT	0.527																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(2404-2406)AGA>ATA		TRIO and F-actin binding protein isoform 6							154.0	165.0	161.0					22																	38120968		1988	4170	6158	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120968G>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2405G>T	22.37:g.38120968G>T	ENSP00000384312:p.Arg802Ile					TRIOBP_uc003atu.2_Missense_Mutation_p.R630I|TRIOBP_uc003atq.1_Missense_Mutation_p.R802I|TRIOBP_uc003ats.1_Missense_Mutation_p.R630I	p.R802I	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2676	+	Melanoma(58;0.0574)		802					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2405G>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658309	0.67586	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.25085	1.82	4.41	-0.11	0.13580	.	.	.	.	.	T	0.26048	0.0635	M	0.65975	2.015	0.09310	N	1	P	0.44578	0.838	B	0.41691	0.364	T	0.15263	-1.0443	9	0.87932	D	0	.	6.5703	0.22535	0.4352:0.0:0.5648:0.0	.	802	Q9H2D6	TARA_HUMAN	I	802	ENSP00000384312:R802I	ENSP00000384312:R802I	R	+	2	0	TRIOBP	36450914	0.000000	0.05858	0.000000	0.03702	0.298000	0.27526	0.341000	0.19909	-0.082000	0.12640	-0.361000	0.07541	AGA		0.527	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			26	40	1	0	1.55469e-16	0.00333	2.49311e-16	26	40				
TRIOBP	11078	broad.mit.edu	37	22	38155203	38155203	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:38155203G>C	ENST00000406386.3	+	17	6511	c.6256G>C	c.(6256-6258)Ggg>Cgg	p.G2086R	TRIOBP_ENST00000403663.2_Missense_Mutation_p.G373R|TRIOBP_ENST00000407319.2_Missense_Mutation_p.G373R	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2086					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCGTCTCCAAGGGGAGGCTCC	0.652																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(6256-6258)GGG>CGG		TRIO and F-actin binding protein isoform 6							21.0	23.0	22.0					22																	38155203		2194	4294	6488	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38155203G>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6256G>C	22.37:g.38155203G>C	ENSP00000384312:p.Gly2086Arg					TRIOBP_uc003atu.2_Missense_Mutation_p.G1914R|TRIOBP_uc003atv.2_Missense_Mutation_p.G373R|TRIOBP_uc003atw.2_Missense_Mutation_p.G373R|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	p.G2086R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			17	6527	+	Melanoma(58;0.0574)		2086			Potential.		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6256G>C	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186247	0.57909	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663	T	0.20738	2.05	5.75	5.75	0.90469	.	.	.	.	.	T	0.35008	0.0917	L	0.51422	1.61	0.45867	D	0.998728	D;D;D	0.89917	0.989;0.995;1.0	P;P;D	0.79108	0.84;0.844;0.992	T	0.03576	-1.1023	9	0.23302	T	0.38	.	8.9141	0.35570	0.124:0.0:0.876:0.0	.	373;373;2086	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	R	2086;373;373	ENSP00000384312:G2086R	ENSP00000386026:G373R	G	+	1	0	TRIOBP	36485149	0.774000	0.28592	1.000000	0.80357	0.972000	0.66771	0.832000	0.27490	2.715000	0.92844	0.549000	0.68633	GGG		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	12	0	0	0	0.00308	0	7	12				
TRIOBP	11078	broad.mit.edu	37	22	38168672	38168672	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:38168672G>T	ENST00000406386.3	+	23	7256	c.7001G>T	c.(7000-7002)cGg>cTg	p.R2334L	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R621L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2334					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATCAAGACACGGTCTGAGCGG	0.607																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(7000-7002)CGG>CTG		TRIO and F-actin binding protein isoform 6							111.0	123.0	119.0					22																	38168672		2170	4272	6442	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38168672G>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.7001G>T	22.37:g.38168672G>T	ENSP00000384312:p.Arg2334Leu					TRIOBP_uc003atu.2_Missense_Mutation_p.R2162L|TRIOBP_uc003atw.2_Missense_Mutation_p.R621L|TRIOBP_uc003atx.1_3'UTR|TRIOBP_uc010gxh.2_Missense_Mutation_p.R222L	p.R2334L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			23	7272	+	Melanoma(58;0.0574)		2334			Potential.		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.7001G>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	g	19.71	3.879094	0.72294	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.28069	1.63	4.8	4.8	0.61643	.	.	.	.	.	T	0.51109	0.1655	L	0.50333	1.59	0.53688	D	0.999978	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.75484	0.985;0.986;0.98	T	0.51694	-0.8673	9	0.59425	D	0.04	.	18.0585	0.89370	0.0:0.0:1.0:0.0	.	2236;621;2334	Q9H2D6-2;F8W6V6;Q9H2D6	.;.;TARA_HUMAN	L	2334;621	ENSP00000384312:R2334L	ENSP00000386026:R621L	R	+	2	0	TRIOBP	36498618	1.000000	0.71417	0.877000	0.34402	0.559000	0.35586	5.983000	0.70540	2.480000	0.83734	0.556000	0.70494	CGG		0.607	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			52	67	1	0	2.69774e-35	0.00361	5.5116e-35	52	67				
GTPBP1	9567	broad.mit.edu	37	22	39125575	39125575	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:39125575G>T	ENST00000216044.5	+	11	2058	c.1825G>T	c.(1825-1827)Ggt>Tgt	p.G609C		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	609					GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGGCCCGTCTGGTGGGCCAGC	0.607																																							uc003awg.2		NA																	0				ovary(1)	1						c.(1825-1827)GGT>TGT		GTP binding protein 1							30.0	27.0	28.0					22																	39125575		2202	4300	6502	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39125575G>T	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1825G>T	22.37:g.39125575G>T	ENSP00000216044:p.Gly609Cys						p.G609C	NM_004286	NP_004277	O00178	GTPB1_HUMAN			11	1979	+	Melanoma(58;0.04)		609					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.1825G>T	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561922	0.45590	.	.	ENSG00000100226	ENST00000216044;ENST00000458073	T	0.32515	1.45	5.27	0.692	0.18050	.	0.374764	0.26715	N	0.022870	T	0.19765	0.0475	L	0.36672	1.1	0.09310	N	1	P	0.35527	0.507	B	0.30105	0.111	T	0.12941	-1.0528	10	0.56958	D	0.05	.	9.5352	0.39218	0.3018:0.0:0.6982:0.0	.	609	O00178	GTPB1_HUMAN	C	609;187	ENSP00000216044:G609C	ENSP00000216044:G609C	G	+	1	0	GTPBP1	37455521	0.052000	0.20516	0.004000	0.12327	0.048000	0.14542	0.246000	0.18160	0.326000	0.23384	-0.345000	0.07892	GGT		0.607	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		16	8	1	0	6.94344e-10	0.006122	9.1297e-10	16	8				
CACNA1I	8911	broad.mit.edu	37	22	40060149	40060149	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:40060149C>A	ENST00000402142.3	+	20	3651	c.3651C>A	c.(3649-3651)ggC>ggA	p.G1217G	CACNA1I_ENST00000401624.1_Silent_p.G1217G|CACNA1I_ENST00000407673.1_Silent_p.G1182G|CACNA1I_ENST00000400164.3_Silent_p.G1182G|CACNA1I_ENST00000404898.1_Silent_p.G1182G|CACNA1I_ENST00000336649.4_Silent_p.G1223G	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1217					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)			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)	TCTTCGTGGGCGAGATGACAT	0.612																																							uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3649-3651)GGC>GGA		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						79.0	82.0	81.0					22																	40060149		1958	4149	6107	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060149C>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.3651C>A	22.37:g.40060149C>A						CACNA1I_uc003ayd.2_Silent_p.G1182G|CACNA1I_uc003aye.2_Silent_p.G1132G|CACNA1I_uc003ayf.2_Silent_p.G1097G	p.G1217G	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			20	3651	+	Melanoma(58;0.0749)		1217			Helical; Name=S2 of repeat III; (Potential).|III.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.3651C>A	CCDS46710.1																																																																																				0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		6	9	1	0	2.0095e-06	0.001984	2.3649e-06	6	9				
EP300	2033	broad.mit.edu	37	22	41566409	41566409	+	Splice_Site	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:41566409G>C	ENST00000263253.7	+	27	5505		c.e27-1		RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTATTGTTAGTTACACAACA	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																														uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.e27-1		E1A binding protein p300							111.0	100.0	104.0					22																	41566409		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybsyndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566409G>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4287-1G>C	22.37:g.41566409G>C							p.G1429_splice	NM_001429	NP_001420	Q09472	EP300_HUMAN			27	4682	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37	c.4287_splice	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036477	0.75617	.	.	ENSG00000100393	ENST00000263253	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2945	0.54838	0.0793:0.0:0.9207:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39896355	1.000000	0.71417	0.663000	0.29738	0.536000	0.34869	9.760000	0.98935	2.624000	0.88883	0.655000	0.94253	.		0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	4	30	0	0	0	0.009096	0	4	30				
RANGAP1	5905	broad.mit.edu	37	22	41652743	41652743	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:41652743G>A	ENST00000455915.2	-	7	2329	c.860C>T	c.(859-861)gCc>gTc	p.A287V	RANGAP1_ENST00000405486.1_Missense_Mutation_p.A287V|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A287V|RANGAP1_ENST00000407260.4_Missense_Mutation_p.A232V			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	287					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCGCGGATGGCATCTGCAAT	0.647																																							uc003azs.2		NA																	0					0						c.(859-861)GCC>GTC		Ran GTPase activating protein 1							67.0	63.0	64.0					22																	41652743		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41652743G>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.860C>T	22.37:g.41652743G>A	ENSP00000401470:p.Ala287Val					RANGAP1_uc003azt.2_Missense_Mutation_p.A287V|RANGAP1_uc003azu.2_Missense_Mutation_p.A287V|RANGAP1_uc011aoz.1_Missense_Mutation_p.A232V	p.A287V	NM_002883	NP_002874	P46060	RAGP1_HUMAN			7	2330	-			287					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.860C>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074476	0.76415	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.55760	0.51;0.51;0.51;0.5	5.55	5.55	0.83447	.	0.206071	0.50627	D	0.000104	T	0.54013	0.1832	M	0.64404	1.975	0.80722	D	1	P;B	0.41131	0.739;0.361	B;B	0.37833	0.259;0.161	T	0.58747	-0.7582	10	0.51188	T	0.08	-12.9622	19.4978	0.95081	0.0:0.0:1.0:0.0	.	232;287	F8W7I9;P46060	.;RAGP1_HUMAN	V	287;287;287;287;232	ENSP00000385866:A287V;ENSP00000348577:A287V;ENSP00000401470:A287V;ENSP00000385354:A232V	ENSP00000348577:A287V	A	-	2	0	RANGAP1	39982689	1.000000	0.71417	0.159000	0.22649	0.947000	0.59692	5.330000	0.65899	2.608000	0.88229	0.462000	0.41574	GCC		0.647	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		9	19	0	0	0	0.004482	0	9	19				
CCDC134	79879	broad.mit.edu	37	22	42204948	42204948	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:42204948G>T	ENST00000255784.5	+	2	158	c.54G>T	c.(52-54)atG>atT	p.M18I	CCDC134_ENST00000402061.3_Missense_Mutation_p.M18I	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	18						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TGTCTGGGATGGGAGCCACAG	0.483																																							uc003bbh.1		NA																	0				ovary(2)	2						c.(52-54)ATG>ATT		coiled-coil domain containing 134 precursor							175.0	141.0	152.0					22																	42204948		2203	4300	6503	SO:0001583	missense	79879					extracellular region		g.chr22:42204948G>T	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.54G>T	22.37:g.42204948G>T	ENSP00000255784:p.Met18Ile					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|CCDC134_uc011apg.1_Missense_Mutation_p.M18I	p.M18I	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN			2	163	+			18						Missense_Mutation	SNP	ENST00000255784.5	37	c.54G>T	CCDS33654.1	.	.	.	.	.	.	.	.	.	.	G	4.709	0.131819	0.08981	.	.	ENSG00000100147	ENST00000402061;ENST00000255784;ENST00000429249	.	.	.	4.74	-9.48	0.00591	.	1.057460	0.07405	N	0.891444	T	0.17195	0.0413	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42632	-0.9440	9	0.56958	D	0.05	0.6468	10.8255	0.46629	0.1097:0.0848:0.6377:0.1678	.	18;18	B0QY51;Q9H6E4	.;CC134_HUMAN	I	18	.	ENSP00000255784:M18I	M	+	3	0	CCDC134	40534894	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.662000	0.05305	-2.230000	0.00719	-1.008000	0.02478	ATG		0.483	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		13	32	1	0	1.49906e-05	0.00245	1.70773e-05	13	32				
UPK3A	7380	broad.mit.edu	37	22	45681845	45681845	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:45681845G>T	ENST00000216211.4	+	2	108	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	UPK3A_ENST00000396082.2_Missense_Mutation_p.A26S	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	26					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCCCAACTGGCCAGTGTGAC	0.572																																							uc003bfy.2		NA																	0					0						c.(76-78)GCC>TCC		uroplakin 3A precursor							113.0	84.0	94.0					22																	45681845		2203	4300	6503	SO:0001583	missense	7380				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		g.chr22:45681845G>T	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.76G>T	22.37:g.45681845G>T	ENSP00000216211:p.Ala26Ser					UPK3A_uc010gzy.2_Missense_Mutation_p.A26S	p.A26S	NM_006953	NP_008884	O75631	UPK3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	2	82	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	26			Lumenal (Potential).		B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	c.76G>T	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597746	0.87055	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.87334	-0.62;-2.24	5.14	5.14	0.70334	.	0.066357	0.64402	D	0.000018	D	0.91981	0.7460	M	0.61703	1.905	0.30691	N	0.751347	P;D	0.89917	0.877;1.0	P;D	0.91635	0.456;0.999	D	0.89707	0.3909	10	0.37606	T	0.19	-1.1839	16.0963	0.81127	0.0:0.0:1.0:0.0	.	26;26	O75631-2;O75631	.;UPK3A_HUMAN	S	26	ENSP00000216211:A26S;ENSP00000379391:A26S	ENSP00000216211:A26S	A	+	1	0	UPK3A	44060509	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.357000	0.66058	2.366000	0.80165	0.563000	0.77884	GCC		0.572	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		15	13	1	0	0.000422831	0.004007	0.000455111	15	13				
SMC1B	27127	broad.mit.edu	37	22	45745638	45745638	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:45745638C>A	ENST00000357450.4	-	23	3465	c.3466G>T	c.(3466-3468)Gca>Tca	p.A1156S	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1156	Ala/Asp-rich (DA-box).				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTAGGGCTGCATCCACTTCA	0.338																																							uc003bgc.2		NA																	0				ovary(2)	2						c.(3466-3468)GCA>TCA		SMC1 structural maintenance of chromosomes							93.0	89.0	91.0					22																	45745638		1867	4102	5969	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45745638C>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3466G>T	22.37:g.45745638C>A	ENSP00000350036:p.Ala1156Ser					SMC1B_uc003bgd.2_Intron	p.A1156S	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	23	3518	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1156			Ala/Asp-rich (DA-box).		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.3466G>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913297	0.92178	.	.	ENSG00000077935	ENST00000357450	T	0.71103	-0.54	5.01	5.01	0.66863	.	0.000000	0.53938	D	0.000044	D	0.87696	0.6242	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90708	0.4625	10	0.87932	D	0	.	17.9283	0.88990	0.0:1.0:0.0:0.0	.	1156	Q8NDV3-3	.	S	1156	ENSP00000350036:A1156S	ENSP00000350036:A1156S	A	-	1	0	SMC1B	44124302	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.375000	0.79646	2.316000	0.78162	0.460000	0.39030	GCA		0.338	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		10	24	1	0	0.00829132	0.008291	0.00865604	10	24				
TTC38	55020	broad.mit.edu	37	22	46685307	46685307	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:46685307G>T	ENST00000381031.3	+	12	1167	c.1091G>T	c.(1090-1092)gGg>gTg	p.G364V	TTC38_ENST00000445282.2_Missense_Mutation_p.G306V	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	364						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGATCCCCAGGGGAGAACTGC	0.667																																							uc003bhi.2		NA																	0				ovary(1)	1						c.(1090-1092)GGG>GTG		tetratricopeptide repeat domain 38							28.0	34.0	32.0					22																	46685307		2078	4188	6266	SO:0001583	missense	55020						binding	g.chr22:46685307G>T		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.1091G>T	22.37:g.46685307G>T	ENSP00000370419:p.Gly364Val					TTC38_uc011aqx.1_Missense_Mutation_p.G306V	p.G364V	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN			12	1167	+			364					Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	c.1091G>T	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852233	0.51270	.	.	ENSG00000075234	ENST00000381031;ENST00000445282	T;T	0.49432	0.78;0.83	4.77	3.75	0.43078	.	0.050444	0.85682	D	0.000000	T	0.57858	0.2082	M	0.73217	2.22	0.80722	D	1	D;D	0.57899	0.981;0.974	P;P	0.55055	0.595;0.767	T	0.58555	-0.7616	10	0.44086	T	0.13	-2.9435	10.8524	0.46777	0.0935:0.0:0.9065:0.0	.	306;364	E7ES35;Q5R3I4	.;TTC38_HUMAN	V	364;306	ENSP00000370419:G364V;ENSP00000393960:G306V	ENSP00000370419:G364V	G	+	2	0	TTC38	45063971	1.000000	0.71417	0.979000	0.43373	0.304000	0.27724	2.466000	0.45084	1.011000	0.39340	0.655000	0.94253	GGG		0.667	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		8	17	1	0	0.000274275	0.004482	0.000296559	8	17				
PLXNB2	23654	broad.mit.edu	37	22	50722093	50722093	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:50722093C>T	ENST00000449103.1	-	15	2648	c.2508G>A	c.(2506-2508)caG>caA	p.Q836Q	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.Q836Q			O15031	PLXB2_HUMAN	plexin B2	836	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGATCCTCTGGATGTCCC	0.647																																							uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2506-2508)CAG>CAA		plexin B2 precursor							30.0	36.0	34.0					22																	50722093		1970	4134	6104	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50722093C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2508G>A	22.37:g.50722093C>T						PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	p.Q836Q	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	15	2614	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	836			Extracellular (Potential).|IPT/TIG 1.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.2508G>A	CCDS43035.1																																																																																				0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		9	20	0	0	0	0.004482	0	9	20				
SETD5	55209	broad.mit.edu	37	3	9517764	9517764	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:9517764G>C	ENST00000406341.1	+	22	4508	c.4318G>C	c.(4318-4320)Gga>Cga	p.G1440R	SETD5_ENST00000402466.1_Missense_Mutation_p.G1342R|SETD5_ENST00000302463.6_Missense_Mutation_p.G1342R|SETD5_ENST00000402198.1_Missense_Mutation_p.G1440R|SETD5_ENST00000407969.1_Missense_Mutation_p.G1459R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1440										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GACTCAGACGGGACTTTCCTA	0.557																																							uc003brt.2		NA																	0				ovary(2)	2						c.(4318-4320)GGA>CGA		SET domain containing 5							21.0	20.0	21.0					3																	9517764		1926	4137	6063	SO:0001583	missense	55209							g.chr3:9517764G>C	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.4318G>C	3.37:g.9517764G>C	ENSP00000383939:p.Gly1440Arg					SETD5_uc003bru.2_Missense_Mutation_p.G1342R|SETD5_uc003brv.2_Missense_Mutation_p.G1329R|SETD5_uc010hck.2_Missense_Mutation_p.G922R|SETD5_uc003brx.2_Missense_Mutation_p.G1109R	p.G1440R	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	23	4753	+	Medulloblastoma(99;0.227)		1440					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.4318G>C	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600579	0.66332	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.97710	-4.08;-4.5;-4.08;-4.01;-4.5	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000003	D	0.97604	0.9215	L	0.27053	0.805	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.99663	1.0994	10	0.87932	D	0	-11.2123	18.6972	0.91605	0.0:0.0:1.0:0.0	.	1109;1342;1440	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	R	1440;1342;1440;1459;1342	ENSP00000385852:G1440R;ENSP00000384429:G1342R;ENSP00000383939:G1440R;ENSP00000384114:G1459R;ENSP00000302028:G1342R	ENSP00000302028:G1342R	G	+	1	0	SETD5	9492764	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.661000	0.83786	2.481000	0.83766	0.467000	0.42956	GGA		0.557	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		12	0	0	0	0	0.000978	0	12	0				
ATP2B2	491	broad.mit.edu	37	3	10392146	10392146	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:10392146C>A	ENST00000352432.4	-	14	2321	c.2252G>T	c.(2251-2253)gGg>gTg	p.G751V	ATP2B2_ENST00000397077.1_Missense_Mutation_p.G706V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G706V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G751V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G737V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	751					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AAAGTCCTCCCCAGGATGGAT	0.602																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2251-2253)GGG>GTG		plasma membrane calcium ATPase 2 isoform 1							130.0	105.0	114.0					3																	10392146		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10392146C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2252G>T	3.37:g.10392146C>A	ENSP00000324172:p.Gly751Val					ATP2B2_uc003bvv.2_Missense_Mutation_p.G706V|ATP2B2_uc003bvw.2_Missense_Mutation_p.G706V|ATP2B2_uc010hdo.2_Missense_Mutation_p.G456V	p.G751V	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			15	2691	-			751			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.2252G>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762022	0.89932	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-4.28;-4.28	4.18	4.18	0.49190	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;0.957;0.969	D;P;P	0.91635	0.999;0.875;0.876	D	0.99830	1.1053	10	0.87932	D	0	-28.6715	16.8604	0.86016	0.0:1.0:0.0:0.0	.	686;718;751	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	751;706;706;751;737;686;607;751	ENSP00000324172:G751V;ENSP00000373311:G706V;ENSP00000380267:G706V;ENSP00000353414:G751V;ENSP00000344677:G737V;ENSP00000414854:G607V	ENSP00000342954:G751V	G	-	2	0	ATP2B2	10367146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.078000	0.71282	2.022000	0.59522	0.491000	0.48974	GGG		0.602	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		25	7	1	0	1.66031e-10	0.003954	2.23678e-10	25	7				
Unknown	0	broad.mit.edu	37	3	12232106	12232106	+	IGR	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:12232106C>A								SYN2 (4878 upstream) : PPARG (96760 downstream)																							AAGTCCTTTGCCAGCCTCTTT	0.527																																							uc003bwm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1729-1731)GCC>GAC		synapsin II isoform IIa							83.0	88.0	86.0					3																	12232106		1985	4185	6170	SO:0001628	intergenic_variant	6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12232106C>A																													3.37:g.12232106C>A						SYN2_uc003bwn.2_Missense_Mutation_p.A251D	p.A577D	NM_133625	NP_598328	Q92777	SYN2_HUMAN			17	1894	+			577						Missense_Mutation	SNP		37	c.1730C>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.008814	0.75046	.	.	ENSG00000157152	ENST00000540660	.	.	.	5.1	5.1	0.69264	.	0.000000	0.47093	D	0.000260	T	0.78698	0.4324	M	0.67700	2.07	0.41821	D	0.990022	D	0.89917	1.0	D	0.85130	0.997	T	0.80901	-0.1175	9	0.87932	D	0	-14.1046	18.7444	0.91787	0.0:1.0:0.0:0.0	.	577	Q92777	SYN2_HUMAN	D	509	.	ENSP00000442512:A509D	A	+	2	0	SYN2	12207106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.225000	0.58600	2.652000	0.90054	0.655000	0.94253	GCC	0	0.527									32	10	1	0	1.13719e-10	0.008361	1.54814e-10	32	10				
FGD5	152273	broad.mit.edu	37	3	14861949	14861949	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:14861949C>A	ENST00000285046.5	+	1	1481	c.1371C>A	c.(1369-1371)ggC>ggA	p.G457G	FGD5_ENST00000543601.1_Silent_p.G216G	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	457					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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTGGTTATGGCTCGAAAGAAG	0.647																																							uc003bzc.2		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1369-1371)GGC>GGA		FYVE, RhoGEF and PH domain containing 5							29.0	35.0	33.0					3																	14861949		2000	4162	6162	SO:0001819	synonymous_variant	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.chr3:14861949C>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.1371C>A	3.37:g.14861949C>A						FGD5_uc011avk.1_Silent_p.G457G	p.G457G	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1481	+			457					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1371C>A	CCDS46767.1																																																																																				0.647	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		29	5	1	0	4.22769e-11	0.00632	5.86768e-11	29	5				
FGD5	152273	broad.mit.edu	37	3	14862037	14862037	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:14862037G>T	ENST00000285046.5	+	1	1569	c.1459G>T	c.(1459-1461)Ggg>Tgg	p.G487W	FGD5_ENST00000543601.1_Missense_Mutation_p.G246W	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	487					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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCCCCACTCTGGGAAGGTGGC	0.632																																							uc003bzc.2		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1459-1461)GGG>TGG		FYVE, RhoGEF and PH domain containing 5							40.0	45.0	43.0					3																	14862037		1936	4119	6055	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.chr3:14862037G>T	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.1459G>T	3.37:g.14862037G>T	ENSP00000285046:p.Gly487Trp					FGD5_uc011avk.1_Missense_Mutation_p.G487W	p.G487W	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1569	+			487					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1459G>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221406	0.58560	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	D;D	0.89875	-2.58;-2.32	4.86	4.86	0.63082	.	0.000000	0.53938	D	0.000047	D	0.94255	0.8155	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95010	0.8151	10	0.87932	D	0	-45.983	18.0079	0.89214	0.0:0.0:1.0:0.0	.	246;487	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	W	487;246	ENSP00000285046:G487W;ENSP00000445949:G246W	ENSP00000285046:G487W	G	+	1	0	FGD5	14837041	1.000000	0.71417	0.999000	0.59377	0.019000	0.09904	7.468000	0.80943	2.254000	0.74563	0.650000	0.86243	GGG		0.632	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		32	7	1	0	3.11337e-16	0.002836	4.95357e-16	32	7				
GALNT15	117248	broad.mit.edu	37	3	16242201	16242201	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:16242201T>A	ENST00000339732.5	+	3	1285	c.782T>A	c.(781-783)cTg>cAg	p.L261Q	GALNT15_ENST00000437509.1_Missense_Mutation_p.L261Q	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	261	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AACAAGAGGCTGGGTGCCATC	0.612																																							uc003car.3		NA																	0				breast(1)	1						c.(781-783)CTG>CAG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							46.0	46.0	46.0					3																	16242201		2203	4300	6503	SO:0001583	missense	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16242201T>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.782T>A	3.37:g.16242201T>A	ENSP00000344260:p.Leu261Gln					GALNTL2_uc003caq.3_5'UTR	p.L261Q	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			3	1257	+			261			Lumenal (Potential).|Catalytic subdomain A.		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.782T>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.720157	0.48728	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.61742	0.08;0.08	5.03	5.03	0.67393	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000003	T	0.61009	0.2313	N	0.20530	0.585	0.42916	D	0.994271	D	0.76494	0.999	D	0.81914	0.995	T	0.59820	-0.7382	10	0.25751	T	0.34	.	14.7898	0.69830	0.0:0.0:0.0:1.0	.	261	Q8N3T1	GLTL2_HUMAN	Q	261	ENSP00000344260:L261Q;ENSP00000395873:L261Q	ENSP00000344260:L261Q	L	+	2	0	GALNTL2	16217205	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.990000	0.40717	1.905000	0.55150	0.459000	0.35465	CTG		0.612	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		22	12	0	0	0	0.001882	0	22	12				
NEK10	152110	broad.mit.edu	37	3	27216141	27216141	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:27216141C>A	ENST00000429845.2	-	28	3051	c.2689G>T	c.(2689-2691)Gat>Tat	p.D897Y	NEK10_ENST00000383771.4_Splice_Site_p.D209Y|NEK10_ENST00000383770.3_Splice_Site_p.D209Y|NEK10_ENST00000357467.2_Splice_Site_p.D294Y|NEK10_ENST00000295720.6_Splice_Site_p.D209Y|NEK10_ENST00000498182.1_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	897					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTAGCAGTACCTTTCTCAGCA	0.478																																							uc010hfk.2		NA																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(625-627)GAT>TAT		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;							128.0	117.0	121.0					3																	27216141		2203	4300	6503	SO:0001630	splice_region_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27216141C>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2689+1G>T	3.37:g.27216141C>A						NEK10_uc003cds.1_Missense_Mutation_p.D294Y|NEK10_uc010hfj.2_Missense_Mutation_p.D209Y	p.D209Y			Q6ZWH5	NEK10_HUMAN			6	854	-			897					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.625G>T		.	.	.	.	.	.	.	.	.	.	C	16.35	3.099097	0.56183	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.75589	2.5;2.56;2.84;-0.95	5.48	5.48	0.80851	.	.	.	.	.	D	0.86125	0.5858	.	.	.	0.40090	D	0.976241	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.974;0.974;0.95	D	0.86481	0.1791	7	.	.	.	.	17.9351	0.89010	0.0:1.0:0.0:0.0	.	209;209;294	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	Y	209;209;209;294	ENSP00000295720:D209Y;ENSP00000373281:D209Y;ENSP00000373280:D209Y;ENSP00000350059:D294Y	.	D	-	1	0	NEK10	27191145	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	3.114000	0.50383	2.681000	0.91329	0.361000	0.22055	GAT		0.478	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	Missense_Mutation	50	10	1	0	7.34454e-26	0.00361	1.38709e-25	50	10				
EOMES	8320	broad.mit.edu	37	3	27759079	27759079	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:27759079G>T	ENST00000295743.4	-	6	1746	c.1543C>A	c.(1543-1545)Ccc>Acc	p.P515T	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Missense_Mutation_p.P239T|EOMES_ENST00000449599.1_Missense_Mutation_p.P534T			O95936	EOMES_HUMAN	eomesodermin	515					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CACCGCTGGGGAGGGTTGGCC	0.522																																							uc003cdx.2		NA																	0				ovary(3)|breast(1)	4						c.(1543-1545)CCC>ACC		eomesodermin							119.0	127.0	124.0					3																	27759079		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27759079G>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1543C>A	3.37:g.27759079G>T	ENSP00000295743:p.Pro515Thr					EOMES_uc003cdy.3_Missense_Mutation_p.P534T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.P239T	p.P515T	NM_005442	NP_005433	O95936	EOMES_HUMAN			6	1543	-			515					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.1543C>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558840	0.27827	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.85955	-2.05;-2.05;-1.73	4.48	4.48	0.54585	.	0.742681	0.12991	N	0.422452	D	0.88544	0.6465	M	0.70595	2.14	0.47737	D	0.999509	B;P;P	0.50443	0.027;0.935;0.893	B;P;B	0.49252	0.011;0.604;0.4	D	0.88064	0.2796	10	0.42905	T	0.14	.	18.0524	0.89354	0.0:0.0:1.0:0.0	.	248;534;515	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	T	515;534;239;399	ENSP00000295743:P515T;ENSP00000388620:P534T;ENSP00000442097:P239T	ENSP00000295743:P515T	P	-	1	0	EOMES	27734083	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.757000	0.68766	2.439000	0.82584	0.467000	0.42956	CCC		0.522	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		54	14	1	0	4.6707e-30	0.00361	9.21202e-30	54	14				
SCN5A	6331	broad.mit.edu	37	3	38603945	38603945	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:38603945G>T	ENST00000333535.4	-	22	4073	c.3924C>A	c.(3922-3924)ctC>ctA	p.L1308L	SCN5A_ENST00000450102.2_Silent_p.L1254L|SCN5A_ENST00000443581.1_Silent_p.L1307L|SCN5A_ENST00000455624.2_Silent_p.L1307L|SCN5A_ENST00000414099.2_Silent_p.L1308L|SCN5A_ENST00000423572.2_Silent_p.L1307L|SCN5A_ENST00000425664.1_Silent_p.L1308L|SCN5A_ENST00000413689.1_Silent_p.L1308L|SCN5A_ENST00000451551.2_Silent_p.L1254L|SCN5A_ENST00000449557.2_Silent_p.L1254L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1308			L -> F (associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031). {ECO:0000269|PubMed:18599870}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGAGGACGGAGTGCACGCA	0.637																																							uc003cio.2		NA																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3922-3924)CTC>CTA		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						38.0	41.0	40.0					3																	38603945		2105	4237	6342	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38603945G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3924C>A	3.37:g.38603945G>T						SCN5A_uc003cin.2_Silent_p.L1307L|SCN5A_uc003cil.3_Silent_p.L1308L|SCN5A_uc010hhi.2_Silent_p.L1308L|SCN5A_uc010hhk.2_Silent_p.L1307L|SCN5A_uc011ayr.1_Silent_p.L1254L|SCN5A_uc010hhj.1_Silent_p.L918L	p.L1308L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	22	4118	-	Medulloblastoma(35;0.163)		1308			Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.3924C>A	CCDS46796.1																																																																																				0.637	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		10	0	1	0	7.48243e-07	0.006214	8.9163e-07	10	0				
CCDC13	152206	broad.mit.edu	37	3	42754701	42754701	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:42754701G>T	ENST00000310232.6	-	14	1909	c.1826C>A	c.(1825-1827)cCa>cAa	p.P609Q		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	609										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGCCTTCCCTGGCTCCAGGCG	0.612																																							uc003cly.3		NA																	0				ovary(1)	1						c.(1825-1827)CCA>CAA		coiled-coil domain containing 13							117.0	105.0	109.0					3																	42754701		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42754701G>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1826C>A	3.37:g.42754701G>T	ENSP00000309836:p.Pro609Gln						p.P609Q	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			14	1910	-			609						Missense_Mutation	SNP	ENST00000310232.6	37	c.1826C>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012328	0.54468	.	.	ENSG00000244607	ENST00000310232	T	0.11385	2.78	4.99	4.12	0.48240	.	0.269833	0.35262	N	0.003331	T	0.20373	0.0490	M	0.67953	2.075	0.25521	N	0.987369	D	0.58268	0.982	P	0.57911	0.829	T	0.07539	-1.0767	10	0.12103	T	0.63	.	9.3488	0.38124	0.1755:0.0:0.8245:0.0	.	609	Q8IYE1	CCD13_HUMAN	Q	609	ENSP00000309836:P609Q	ENSP00000309836:P609Q	P	-	2	0	CCDC13	42729705	0.753000	0.28349	0.783000	0.31826	0.474000	0.32979	3.261000	0.51530	1.096000	0.41439	0.591000	0.81541	CCA		0.612	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		22	7	1	0	2.89027e-11	0.002299	4.02321e-11	22	7				
CCR5	1234	broad.mit.edu	37	3	46414426	46414426	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:46414426C>T	ENST00000292303.4	+	2	179	c.33C>T	c.(31-33)gaC>gaT	p.D11D	CCR5_ENST00000445772.1_Silent_p.D11D|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000343801.4_Silent_p.D11D	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	11					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CAATCTATGACATCAATTATT	0.408																																							uc003cpo.3		NA																	0				lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(31-33)GAC>GAT		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						120.0	129.0	126.0					3																	46414426		2203	4296	6499	SO:0001819	synonymous_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414426C>T		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.33C>T	3.37:g.46414426C>T						CCR5_uc010hjd.2_Silent_p.D11D	p.D11D	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	155	+			11			Extracellular (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	ENST00000292303.4	37	c.33C>T	CCDS2739.1																																																																																				0.408	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		42	21	0	0	0	0.00361	0	42	21				
PTH1R	5745	broad.mit.edu	37	3	46935439	46935439	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:46935439C>T	ENST00000313049.5	+	2	321	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	PTH1R_ENST00000430002.2_Silent_p.L40L|PTH1R_ENST00000449590.1_Silent_p.L40L|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000418619.1_Silent_p.L40L			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	40					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	ACAGATCTTCCTGCTGCACCG	0.597																																							uc003cqm.2		NA																	0				breast(1)	1						c.(118-120)CTG>TTG		parathyroid hormone receptor 1 precursor							71.0	62.0	65.0					3																	46935439		2203	4300	6503	SO:0001819	synonymous_variant	5745	Ollier_disease_/_Maffucsyndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46935439C>T		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.118C>T	3.37:g.46935439C>T						PTH1R_uc003cqn.2_Silent_p.L40L	p.L40L	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			4	321	+			40			Extracellular (Potential).		Q2M1U3	Silent	SNP	ENST00000313049.5	37	c.118C>T	CCDS2747.1																																																																																				0.597	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		17	5	0	0	0	0.006122	0	17	5				
CELSR3	1951	broad.mit.edu	37	3	48689956	48689956	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:48689956C>A	ENST00000164024.4	-	11	5945	c.5665G>T	c.(5665-5667)Ggc>Tgc	p.G1889C	CELSR3_ENST00000544264.1_Missense_Mutation_p.G1889C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1889	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCTTCAGGCCCTGCAGCTCA	0.647																																							uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(5665-5667)GGC>TGC		cadherin EGF LAG seven-pass G-type receptor 3							44.0	43.0	43.0					3																	48689956		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48689956C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5665G>T	3.37:g.48689956C>A	ENSP00000164024:p.Gly1889Cys					CELSR3_uc003cuf.1_Missense_Mutation_p.G1959C|CELSR3_uc010hkg.2_5'Flank	p.G1889C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	11	5946	-			1889			Extracellular (Potential).|Laminin G-like 2.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5665G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124692	0.94429	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.77877	-1.13;-1.13	5.23	5.23	0.72850	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.88998	0.6590	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.90351	0.4366	9	0.87932	D	0	.	18.8109	0.92057	0.0:1.0:0.0:0.0	.	1889;1959	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	1889	ENSP00000164024:G1889C;ENSP00000445694:G1889C	ENSP00000164024:G1889C	G	-	1	0	CELSR3	48664960	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.487000	0.81328	2.456000	0.83038	0.655000	0.94253	GGC		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		10	7	1	0	0.000442599	0.006214	0.000474237	10	7				
USP19	10869	broad.mit.edu	37	3	49153219	49153219	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:49153219T>A	ENST00000398888.2	-	10	1639	c.1321A>T	c.(1321-1323)Agt>Tgt	p.S441C	USP19_ENST00000398896.1_Missense_Mutation_p.S249C|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_Missense_Mutation_p.S532C|USP19_ENST00000434032.2_Missense_Mutation_p.S542C|USP19_ENST00000398898.2_Missense_Mutation_p.S481C|USP19_ENST00000398892.3_Missense_Mutation_p.S481C|USP19_ENST00000417901.1_Missense_Mutation_p.S544C	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	441					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTGCCACACTGTCTAGCCCT	0.612																																							uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(1321-1323)AGT>TGT		ubiquitin thioesterase 19							96.0	101.0	100.0					3																	49153219		2100	4216	6316	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153219T>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1321A>T	3.37:g.49153219T>A	ENSP00000381863:p.Ser441Cys					USP19_uc003cwa.2_Missense_Mutation_p.S249C|USP19_uc003cvz.3_Missense_Mutation_p.S544C|USP19_uc011bcg.1_Missense_Mutation_p.S532C|USP19_uc003cwb.2_Missense_Mutation_p.S527C|USP19_uc003cwc.1_Missense_Mutation_p.S199C|USP19_uc011bch.1_Missense_Mutation_p.S542C|USP19_uc011bci.1_Missense_Mutation_p.S529C	p.S441C	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	10	1482	-			441			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1321A>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524528	0.44969	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	T;T;T;T;T;T;T;T	0.33654	2.04;2.04;2.14;2.13;2.04;2.14;2.13;1.4	6.17	2.91	0.33838	Domain of unknown function DUF1872 (1);	1.049460	0.07404	N	0.891202	T	0.41073	0.1143	N	0.22421	0.69	0.21064	N	0.999792	P;P;P;P;P;P;P	0.50617	0.928;0.928;0.928;0.937;0.915;0.936;0.618	P;P;P;P;P;P;P	0.56788	0.796;0.796;0.796;0.806;0.563;0.789;0.601	T	0.35450	-0.9788	10	0.66056	D	0.02	-9.079	9.4843	0.38919	0.0:0.6563:0.0:0.3437	.	607;542;532;441;481;527;249	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	C	249;481;544;532;481;441;542;529	ENSP00000381870:S249C;ENSP00000381872:S481C;ENSP00000395260:S544C;ENSP00000400090:S532C;ENSP00000381867:S481C;ENSP00000381863:S441C;ENSP00000401197:S542C;ENSP00000303503:S529C	ENSP00000303503:S529C	S	-	1	0	USP19	49128223	0.129000	0.22400	0.999000	0.59377	0.557000	0.35523	0.841000	0.27613	0.878000	0.35920	0.533000	0.62120	AGT		0.612	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		12	3	0	0	0	0.000978	0	12	3				
LAMB2	3913	broad.mit.edu	37	3	49167053	49167053	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:49167053C>A	ENST00000418109.1	-	12	1666	c.1502G>T	c.(1501-1503)gGa>gTa	p.G501V	LAMB2_ENST00000305544.4_Missense_Mutation_p.G501V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	501	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCGGTCACATCCACGTCCAGT	0.567																																							uc003cwe.2		NA																	0				ovary(3)	3						c.(1501-1503)GGA>GTA		laminin, beta 2 precursor							107.0	98.0	101.0					3																	49167053		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49167053C>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1502G>T	3.37:g.49167053C>A	ENSP00000388325:p.Gly501Val					LAMB2_uc003cwf.1_Missense_Mutation_p.G501V	p.G501V	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1801	-			501			Laminin EGF-like 4.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1502G>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096144	0.36952	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.61274	0.12;0.12	5.3	4.23	0.50019	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.268135	0.40469	N	0.001081	T	0.49474	0.1559	L	0.46157	1.445	0.45899	D	0.99874	P	0.43231	0.801	B	0.43889	0.435	T	0.35895	-0.9770	10	0.17832	T	0.49	.	9.7028	0.40198	0.0:0.6675:0.2458:0.0867	.	501	P55268	LAMB2_HUMAN	V	501	ENSP00000388325:G501V;ENSP00000307156:G501V	ENSP00000307156:G501V	G	-	2	0	LAMB2	49142057	0.001000	0.12720	0.947000	0.38551	0.678000	0.39670	-0.049000	0.11924	2.440000	0.82611	0.655000	0.94253	GGA		0.567	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		8	2	1	0	5.18039e-06	0.00308	6.01703e-06	8	2				
BSN	8927	broad.mit.edu	37	3	49698459	49698459	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:49698459C>T	ENST00000296452.4	+	6	9295	c.9181C>T	c.(9181-9183)Cca>Tca	p.P3061S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3061					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCTCCAGCCCCACAGTATTC	0.667																																							uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(9181-9183)CCA>TCA		bassoon protein							26.0	26.0	26.0					3																	49698459		2195	4286	6481	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698459C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9181C>T	3.37:g.49698459C>T	ENSP00000296452:p.Pro3061Ser						p.P3061S	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9295	+			3061					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.9181C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	1.795	-0.478523	0.04414	.	.	ENSG00000164061	ENST00000296452	T	0.20069	2.1	4.3	-0.0248	0.13938	.	0.325167	0.27577	N	0.018741	T	0.13756	0.0333	L	0.44542	1.39	0.19575	N	0.999965	B	0.06786	0.001	B	0.06405	0.002	T	0.22695	-1.0209	10	0.25751	T	0.34	-1.0356	5.9118	0.19033	0.4767:0.4284:0.0:0.0949	.	3061	Q9UPA5	BSN_HUMAN	S	3061	ENSP00000296452:P3061S	ENSP00000296452:P3061S	P	+	1	0	BSN	49673463	0.018000	0.18449	0.031000	0.17742	0.347000	0.29111	0.607000	0.24209	-0.131000	0.11578	-0.258000	0.10820	CCA		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		14	3	0	0	0	0.001855	0	14	3				
FOXP1	27086	broad.mit.edu	37	3	71064794	71064794	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:71064794C>T	ENST00000318789.4	-	12	1405	c.880G>A	c.(880-882)Gag>Aag	p.E294K	FOXP1_ENST00000468577.1_Missense_Mutation_p.E294K|FOXP1_ENST00000493089.1_Missense_Mutation_p.E294K|FOXP1_ENST00000475937.1_Missense_Mutation_p.E294K|FOXP1_ENST00000491238.1_Missense_Mutation_p.E296K|FOXP1_ENST00000484350.1_Missense_Mutation_p.E218K|FOXP1_ENST00000498215.1_Missense_Mutation_p.E294K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	294					negative regulation of transcription, DNA-templated (GO:0045892)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGTGCTCCTCATGGGACAAA	0.473			T	PAX5	ALL																																		uc003dol.2		NA		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.(880-882)GAG>AAG		forkhead box P1 isoform 1							70.0	66.0	67.0					3																	71064794		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71064794C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.880G>A	3.37:g.71064794C>T	ENSP00000318902:p.Glu294Lys					FOXP1_uc003dom.2_Missense_Mutation_p.E218K|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.E294K|FOXP1_uc003dop.2_Missense_Mutation_p.E294K|FOXP1_uc003doq.1_Missense_Mutation_p.E293K|FOXP1_uc003doi.2_Missense_Mutation_p.E194K|FOXP1_uc003doj.2_Missense_Mutation_p.E194K|FOXP1_uc003dok.2_Missense_Mutation_p.E107K|FOXP1_uc003dor.1_Missense_Mutation_p.E72K	p.E294K	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	8	1203	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	294					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.880G>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	37	6.012986	0.97200	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	6.07	6.07	0.98685	.	0.044969	0.85682	D	0.000000	T	0.57460	0.2055	M	0.64997	1.995	0.80722	D	1	B;D;D;P;P	0.60575	0.402;0.988;0.974;0.893;0.938	B;P;P;P;P	0.53062	0.186;0.717;0.465;0.573;0.519	T	0.56098	-0.8035	10	0.59425	D	0.04	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	294;293;294;218;294	B3KV70;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	K	294;106;194;294;294;190;296;294;294;218;294;194	ENSP00000318902:E294K;ENSP00000419393:E294K;ENSP00000418225:E190K;ENSP00000420736:E296K;ENSP00000418524:E294K;ENSP00000418102:E294K;ENSP00000417857:E218K;ENSP00000418883:E294K;ENSP00000417941:E194K	ENSP00000318902:E294K	E	-	1	0	FOXP1	71147484	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.469000	0.80959	2.890000	0.99128	0.650000	0.86243	GAG		0.473	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		18	5	0	0	0	0.00499	0	18	5				
CNTN3	5067	broad.mit.edu	37	3	74350699	74350699	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:74350699C>A	ENST00000263665.6	-	15	1973		c.e15-1			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCTCAGGCACTACAAAGGAA	0.438																																							uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.e15-1		contactin 3 precursor							108.0	103.0	105.0					3																	74350699		2203	4300	6503	SO:0001630	splice_region_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350699C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1946-1G>T	3.37:g.74350699C>A							p.V649_splice	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	15	2026	-		Lung NSC(201;0.138)|Lung SC(41;0.21)						B9EK50|Q9H039	Splice_Site	SNP	ENST00000263665.6	37	c.1946_splice	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514084	0.85389	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNTN3	74433389	1.000000	0.71417	0.990000	0.47175	0.855000	0.48748	7.202000	0.77856	2.837000	0.97791	0.591000	0.81541	.		0.438	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	Intron	27	9	1	0	4.22769e-11	0.00632	5.86768e-11	27	9				
OR5AC2	81050	broad.mit.edu	37	3	97806084	97806084	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:97806084C>A	ENST00000358642.2	+	1	68	c.68C>A	c.(67-69)cCa>cAa	p.P23Q		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	23					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ACAGATCGACCATGGCTGCAC	0.423																																							uc011bgs.1		NA																	0				skin(1)	1						c.(67-69)CCA>CAA		olfactory receptor, family 5, subfamily AC,							287.0	268.0	274.0					3																	97806084		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806084C>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.68C>A	3.37:g.97806084C>A	ENSP00000351466:p.Pro23Gln						p.P23Q	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	68	+			23			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.68C>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520710	0.85495	.	.	ENSG00000196578	ENST00000358642	T	0.00428	7.44	5.2	4.23	0.50019	.	0.217317	0.23211	N	0.050668	T	0.00784	0.0026	M	0.69463	2.115	0.25634	N	0.986276	P	0.46578	0.88	P	0.57057	0.812	T	0.47032	-0.9148	10	0.42905	T	0.14	-1.087	11.3156	0.49390	0.0:0.9023:0.0:0.0977	.	23	Q9NZP5	O5AC2_HUMAN	Q	23	ENSP00000351466:P23Q	ENSP00000351466:P23Q	P	+	2	0	OR5AC2	99288774	0.000000	0.05858	0.060000	0.19600	0.468000	0.32798	0.403000	0.20982	1.065000	0.40693	0.596000	0.82720	CCA		0.423	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			140	20	1	0	8.22345e-67	0.00361	1.76891e-66	140	20				
OR5K4	403278	broad.mit.edu	37	3	98072932	98072932	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:98072932C>A	ENST00000354924.2	+	1	235	c.235C>A	c.(235-237)Ccc>Acc	p.P79T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TGCTGTTACCCCCAAGATGTT	0.418																																							uc011bgv.1		NA																	0				central_nervous_system(1)	1						c.(235-237)CCC>ACC		olfactory receptor, family 5, subfamily K,							264.0	269.0	268.0					3																	98072932		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072932C>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.235C>A	3.37:g.98072932C>A	ENSP00000347003:p.Pro79Thr						p.P79T	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	235	+			79			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.235C>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078155	0.76528	.	.	ENSG00000196098	ENST00000354924	T	0.01854	4.6	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32459	U	0.006063	T	0.22742	0.0549	H	0.97732	4.065	0.43608	D	0.995973	D	0.89917	1.0	D	0.97110	1.0	T	0.32428	-0.9907	10	0.87932	D	0	-44.1582	15.6545	0.77124	0.0:1.0:0.0:0.0	.	79	A6NMS3	OR5K4_HUMAN	T	79	ENSP00000347003:P79T	ENSP00000347003:P79T	P	+	1	0	OR5K4	99555622	1.000000	0.71417	0.973000	0.42090	0.942000	0.58702	6.763000	0.74955	2.618000	0.88619	0.603000	0.83216	CCC		0.418	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			298	32	1	0	5.49051e-137	0.00361	1.201e-136	298	32				
OR5K4	403278	broad.mit.edu	37	3	98073254	98073254	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:98073254G>T	ENST00000354924.2	+	1	557	c.557G>T	c.(556-558)aGa>aTa	p.R186I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CCACTGTATAGACTCTCCTGT	0.328																																							uc011bgv.1		NA																	0				central_nervous_system(1)	1						c.(556-558)AGA>ATA		olfactory receptor, family 5, subfamily K,							78.0	84.0	82.0					3																	98073254		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073254G>T		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.557G>T	3.37:g.98073254G>T	ENSP00000347003:p.Arg186Ile						p.R186I	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	557	+			186			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.557G>T	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727793	0.48833	.	.	ENSG00000196098	ENST00000354924	T	0.00145	8.67	4.97	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34314	U	0.004077	T	0.00328	0.0010	L	0.57536	1.79	0.22779	N	0.998747	D	0.71674	0.998	D	0.76575	0.988	T	0.50759	-0.8790	10	0.49607	T	0.09	-13.2864	7.6741	0.28476	0.187:0.0:0.813:0.0	.	186	A6NMS3	OR5K4_HUMAN	I	186	ENSP00000347003:R186I	ENSP00000347003:R186I	R	+	2	0	OR5K4	99555944	0.000000	0.05858	0.890000	0.34922	0.943000	0.58893	-1.567000	0.02146	1.447000	0.47661	0.603000	0.83216	AGA		0.328	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			74	7	1	0	1.93348e-29	0.00361	3.80286e-29	74	7				
OR5K1	26339	broad.mit.edu	37	3	98189183	98189183	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:98189183C>T	ENST00000332650.5	+	1	860	c.763C>T	c.(763-765)Ctt>Ttt	p.L255F		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTATGGATCTCTTTTCTTCAT	0.343																																							uc003dsm.2		NA																	0				large_intestine(1)	1						c.(763-765)CTT>TTT		olfactory receptor, family 5, subfamily K,							92.0	95.0	94.0					3																	98189183		2176	4293	6469	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189183C>T	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.763C>T	3.37:g.98189183C>T	ENSP00000373193:p.Leu255Phe						p.L255F	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	763	+			255			Helical; Name=6; (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.763C>T	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463248	0.43736	.	.	ENSG00000232382	ENST00000332650	T	0.00174	8.62	4.56	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.209202	0.23834	N	0.044109	T	0.00384	0.0012	M	0.83852	2.665	0.09310	N	1	D	0.54397	0.966	P	0.61132	0.884	T	0.48340	-0.9044	10	0.72032	D	0.01	-2.6978	2.7709	0.05334	0.3284:0.4205:0.1597:0.0914	.	255	Q8NHB7	OR5K1_HUMAN	F	255	ENSP00000373193:L255F	ENSP00000373193:L255F	L	+	1	0	OR5K1	99671873	0.000000	0.05858	0.928000	0.36995	0.813000	0.45954	-3.383000	0.00490	0.148000	0.19059	-0.261000	0.10672	CTT		0.343	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			84	7	0	0	0	0.00361	0	84	7				
TRAT1	50852	broad.mit.edu	37	3	108549564	108549564	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:108549564G>T	ENST00000295756.6	+	2	285	c.55G>T	c.(55-57)Ggc>Tgc	p.G19C	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	19					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGCATTGTTGGGCTTGGCTTT	0.388																																							uc003dxi.1		NA																	0				skin(1)	1						c.(55-57)GGC>TGC		T-cell receptor interacting molecule							203.0	198.0	200.0					3																	108549564		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108549564G>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.55G>T	3.37:g.108549564G>T	ENSP00000295756:p.Gly19Cys					TRAT1_uc010hpx.1_Intron	p.G19C	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			2	199	+			19			Helical; Signal-anchor for type III membrane protein; (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.55G>T	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555330	0.27739	.	.	ENSG00000163519	ENST00000295756	T	0.47869	0.83	5.26	3.39	0.38822	.	0.411618	0.22922	N	0.054005	T	0.39226	0.1070	L	0.50919	1.6	0.80722	D	1	B	0.31931	0.347	B	0.34590	0.186	T	0.23368	-1.0190	10	0.35671	T	0.21	-18.3553	6.6447	0.22929	0.0921:0.0:0.7193:0.1886	.	19	Q6PIZ9	TRAT1_HUMAN	C	19	ENSP00000295756:G19C	ENSP00000295756:G19C	G	+	1	0	TRAT1	110032254	0.997000	0.39634	0.997000	0.53966	0.166000	0.22503	1.764000	0.38471	1.408000	0.46895	0.591000	0.81541	GGC		0.388	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		90	16	1	0	1.14069e-49	0.00361	2.41e-49	90	16				
ABHD10	55347	broad.mit.edu	37	3	111705160	111705160	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:111705160A>T	ENST00000273359.3	+	3	403	c.376A>T	c.(376-378)Aca>Tca	p.T126S	ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.T126S	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	126					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						AGAGGAAAGCACACTGGGGAA	0.358																																							uc003dyk.3		NA																	0					0						c.(376-378)ACA>TCA		abhydrolase domain containing 10 precursor							128.0	124.0	125.0					3																	111705160		2203	4300	6503	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111705160A>T	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.376A>T	3.37:g.111705160A>T	ENSP00000273359:p.Thr126Ser					ABHD10_uc011bhq.1_5'UTR	p.T126S	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			3	457	+			126					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.376A>T	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981757	0.53827	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T;T	0.67171	-0.25;-0.25	5.79	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	L	0.41415	1.275	0.80722	D	1	B	0.32302	0.363	B	0.35770	0.21	T	0.55655	-0.8107	10	0.39692	T	0.17	-2.6465	11.5837	0.50906	0.8664:0.0:0.0:0.1336	.	126	Q9NUJ1	ABHDA_HUMAN	S	126	ENSP00000273359:T126S;ENSP00000418973:T126S	ENSP00000273359:T126S	T	+	1	0	ABHD10	113187850	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.885000	0.69736	0.975000	0.38392	0.533000	0.62120	ACA		0.358	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		29	3	0	0	0	0.009535	0	29	3				
MAATS1	89876	broad.mit.edu	37	3	119451224	119451224	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:119451224G>T	ENST00000273390.5	+	9	1179	c.1102G>T	c.(1102-1104)Gca>Tca	p.A368S		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	531						mitochondrion (GO:0005739)											TTCTGATTATGCATCACAGGT	0.378																																							uc003ede.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1102-1104)GCA>TCA		AAT1-alpha							71.0	74.0	73.0					3																	119451224		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119451224G>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1102G>T	3.37:g.119451224G>T	ENSP00000273390:p.Ala368Ser					C3orf15_uc010hqy.1_Missense_Mutation_p.A368S|C3orf15_uc010hqz.2_Missense_Mutation_p.A306S|C3orf15_uc011bjd.1_Missense_Mutation_p.A242S|C3orf15_uc011bje.1_Missense_Mutation_p.A348S|C3orf15_uc010hra.1_Missense_Mutation_p.A129S	p.A368S	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	9	1179	+			531					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1102G>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032974	0.54790	.	.	ENSG00000183833	ENST00000273390	T	0.23552	1.9	5.66	5.66	0.87406	.	0.348577	0.28595	N	0.014800	T	0.31231	0.0790	L	0.54908	1.71	0.80722	D	1	B;P;B;B	0.51791	0.314;0.948;0.373;0.211	B;P;B;B	0.45138	0.046;0.471;0.184;0.106	T	0.02126	-1.1209	10	0.41790	T	0.15	-8.0074	16.0579	0.80817	0.0:0.0:0.8655:0.1345	.	129;306;368;368	Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	.;.;.;.	S	368	ENSP00000273390:A368S	ENSP00000273390:A368S	A	+	1	0	C3orf15	120933914	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.912000	0.63335	2.653000	0.90120	0.563000	0.77884	GCA		0.378	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		72	7	1	0	3.94896e-32	0.00361	7.89793e-32	72	7				
ITGB5	3693	broad.mit.edu	37	3	124578287	124578287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:124578287C>A	ENST00000296181.4	-	3	459	c.163G>T	c.(163-165)Gga>Tga	p.G55*		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	55	PSI.				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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CGTGGGCTTCCGAAGTCCTAG	0.552																																							uc003eho.2		NA																	0				skin(2)	2						c.(163-165)GGA>TGA		integrin, beta 5 precursor							63.0	57.0	59.0					3																	124578287		2203	4300	6503	SO:0001587	stop_gained	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124578287C>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.163G>T	3.37:g.124578287C>A	ENSP00000296181:p.Gly55*						p.G55*	NM_002213	NP_002204	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	3	460	-			55			Extracellular (Potential).|PSI.		B0LPF8|B2RD70	Nonsense_Mutation	SNP	ENST00000296181.4	37	c.163G>T	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	37	6.353733	0.97498	.	.	ENSG00000082781	ENST00000296181	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	14.124	0.65208	0.0:0.9259:0.0:0.0741	.	.	.	.	X	55	.	ENSP00000296181:G55X	G	-	1	0	ITGB5	126060977	0.994000	0.37717	0.993000	0.49108	0.594000	0.36715	2.868000	0.48436	2.688000	0.91661	0.591000	0.81541	GGA		0.552	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		35	19	1	0	6.29468e-14	0.004878	9.44534e-14	35	19				
PLXNA1	5361	broad.mit.edu	37	3	126751248	126751248	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:126751248G>T	ENST00000393409.2	+	29	5250	c.5250G>T	c.(5248-5250)tgG>tgT	p.W1750C	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.W1727C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1750					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCGCTTCTGGGTGAACGTGA	0.597																																							uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5179-5181)TGG>TGT		plexin A1							98.0	91.0	93.0					3																	126751248		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126751248G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5250G>T	3.37:g.126751248G>T	ENSP00000377061:p.Trp1750Cys					PLXNA1_uc003ejh.2_Missense_Mutation_p.W395C	p.W1727C	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	29	5185	+			1750			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.5181G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012424	0.75046	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.33216	1.42;1.42	3.98	3.98	0.46160	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.65821	0.2728	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77938	-0.2400	10	0.87932	D	0	.	16.6134	0.84900	0.0:0.0:1.0:0.0	.	364;1750	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	C	1750;1727	ENSP00000377061:W1750C;ENSP00000251772:W1727C	ENSP00000251772:W1727C	W	+	3	0	PLXNA1	128233938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.513000	0.98010	2.200000	0.70718	0.467000	0.42956	TGG		0.597	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		66	6	1	0	5.45122e-27	0.00361	1.04758e-26	66	6				
TPRA1	131601	broad.mit.edu	37	3	127294893	127294893	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:127294893C>A	ENST00000355552.3	-	7	875	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	TPRA1_ENST00000489960.1_Splice_Site_p.G167W|TPRA1_ENST00000450633.2_Splice_Site_p.G167W|TPRA1_ENST00000465915.1_5'Flank|TPRA1_ENST00000296210.7_Splice_Site_p.G167W	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	167					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TCCAGGGTCCCCTGCAGGGGC	0.587																																							uc003ejl.2		NA																	0					0						c.(499-501)GGG>TGG		G protein-coupled receptor 175 isoform 1							22.0	26.0	25.0					3																	127294893		2203	4299	6502	SO:0001630	splice_region_variant	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127294893C>A	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.499-1G>T	3.37:g.127294893C>A						TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Missense_Mutation_p.G167W|TPRA1_uc010hsk.2_Missense_Mutation_p.G167W|TPRA1_uc003ejn.2_Missense_Mutation_p.G167W	p.G167W	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN			6	790	-			167			Helical; Name=4; (Potential).		A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Missense_Mutation	SNP	ENST00000355552.3	37	c.499G>T	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861730	0.71949	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111	.	.	.	4.75	4.75	0.60458	.	0.051257	0.85682	D	0.000000	T	0.78233	0.4251	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.978	T	0.81422	-0.0940	9	0.87932	D	0	-22.6251	17.7418	0.88409	0.0:1.0:0.0:0.0	.	167;167	Q86W33-3;Q86W33	.;TPRA1_HUMAN	W	167	.	ENSP00000296210:G167W	G	-	1	0	TPRA1	128777583	1.000000	0.71417	0.997000	0.53966	0.533000	0.34776	7.258000	0.78371	2.179000	0.69175	0.313000	0.20887	GGG		0.587	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372	Missense_Mutation	23	20	1	0	1.28384e-07	0.001882	1.56122e-07	23	20				
SEC61A1	29927	broad.mit.edu	37	3	127786902	127786902	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:127786902G>T	ENST00000243253.3	+	11	1428	c.1244G>T	c.(1243-1245)cGg>cTg	p.R415L	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Splice_Site_p.R295L|SEC61A1_ENST00000464451.1_Splice_Site_p.R421L	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	415					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.R415Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GAACTCAACCGGTGAGTGGTG	0.577											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003ekb.2		NA																	1	Substitution - Missense(1)		central_nervous_system(1)	ovary(1)	1						c.(1243-1245)CGG>CTG		Sec61 alpha 1 subunit							76.0	67.0	70.0					3																	127786902		2203	4300	6503	SO:0001630	splice_region_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127786902G>T	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1244+1G>T	3.37:g.127786902G>T			OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1559	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Missense_Mutation_p.R362L|SEC61A1_uc003ekd.2_Missense_Mutation_p.R295L|SEC61A1_uc003ekg.2_Missense_Mutation_p.R109L	p.R415L	NM_013336	NP_037468	P61619	S61A1_HUMAN			11	1428	+			415			Cytoplasmic (Potential).		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.1244G>T	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029929	0.93575	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.05	5.05	0.67936	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	H	0.95884	3.735	0.80722	D	1	D	0.54397	0.966	D	0.67382	0.951	D	0.91539	0.5248	9	0.87932	D	0	.	18.3989	0.90509	0.0:0.0:1.0:0.0	.	415	P61619	S61A1_HUMAN	L	421;415;295	.	ENSP00000243253:R415L	R	+	2	0	SEC61A1	129269592	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	9.837000	0.99465	2.503000	0.84419	0.591000	0.81541	CGG		0.577	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336	Missense_Mutation	18	44	1	0	1.99824e-07	0.00499	2.41963e-07	18	44				
ATP2C1	27032	broad.mit.edu	37	3	130698177	130698177	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:130698177T>C	ENST00000510168.1	+	19	2205	c.1655T>C	c.(1654-1656)gTg>gCg	p.V552A	ATP2C1_ENST00000533801.2_Missense_Mutation_p.V547A|ATP2C1_ENST00000504381.1_Missense_Mutation_p.V497A|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V552A|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V586A|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V536A|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V536A|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V552A|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V536A|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V552A|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V552A|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V552A|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V536A			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	552					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAACTGGTGTGAAAGAAGCT	0.418									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NA																	0				skin(1)	1						c.(1654-1656)GTG>GCG		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						138.0	132.0	134.0					3																	130698177		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130698177T>C	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1655T>C	3.37:g.130698177T>C	ENSP00000427461:p.Val552Ala					ATP2C1_uc011blg.1_Missense_Mutation_p.V586A|ATP2C1_uc011blh.1_Missense_Mutation_p.V547A|ATP2C1_uc011bli.1_Missense_Mutation_p.V586A|ATP2C1_uc003enk.2_Missense_Mutation_p.V536A|ATP2C1_uc003enm.2_Missense_Mutation_p.V552A|ATP2C1_uc003enn.2_Missense_Mutation_p.V536A|ATP2C1_uc003eno.2_Missense_Mutation_p.V552A|ATP2C1_uc003enp.2_Missense_Mutation_p.V552A|ATP2C1_uc003enq.2_Missense_Mutation_p.V552A|ATP2C1_uc003enr.2_Missense_Mutation_p.V552A|ATP2C1_uc003ens.2_Missense_Mutation_p.V552A|ATP2C1_uc003ent.2_Missense_Mutation_p.V552A|ATP2C1_uc003enu.2_Missense_Mutation_p.V230A	p.V552A	NM_014382	NP_055197	P98194	AT2C1_HUMAN			19	1877	+			552			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1655T>C	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.96|19.96	3.923339|3.923339	0.73213|0.73213	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.94046|.	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61590|.	0.2359|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;D;P;D;P;D;D|.	0.58970|.	0.98;0.984;0.86;0.96;0.926;0.96;0.968|.	P;P;P;P;P;P;P|.	0.57057|.	0.715;0.812;0.58;0.574;0.72;0.574;0.699|.	T|.	0.58188|.	-0.7680|.	10|.	0.25751|.	T|.	0.34|.	.|.	15.9389|15.9389	0.79739|0.79739	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	586;547;586;552;586;552;552|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	A|R	536;497;536;586;547;552;552;536;536;552;552;552;552;551|506	ENSP00000423774:V536A;ENSP00000425320:V497A;ENSP00000421326:V536A;ENSP00000376914:V586A;ENSP00000432956:V547A;ENSP00000427461:V552A;ENSP00000424783:V552A;ENSP00000423330:V536A;ENSP00000422872:V536A;ENSP00000329664:V552A;ENSP00000395809:V552A;ENSP00000352665:V552A;ENSP00000402677:V552A|.	ENSP00000329664:V552A|.	V|X	+|+	2|1	0|0	ATP2C1|ATP2C1	132180867|132180867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.932000|7.932000	0.87634|0.87634	2.160000|2.160000	0.67779|0.67779	0.533000|0.533000	0.62120|0.62120	GTG|TGA		0.418	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		77	12	0	0	0	0.00361	0	77	12				
CLSTN2	64084	broad.mit.edu	37	3	139894870	139894870	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:139894870C>A	ENST00000458420.3	+	2	377	c.187C>A	c.(187-189)Cca>Aca	p.P63T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATTTTGGACCCACCACTGGT	0.463										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(187-189)CCA>ACA		calsyntenin 2 precursor							96.0	97.0	96.0					3																	139894870		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:139894870C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.187C>A	3.37:g.139894870C>A	ENSP00000402460:p.Pro63Thr	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.P63T	p.P63T	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			2	377	+			63			Extracellular (Potential).|Cadherin 1.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.187C>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220395	0.79464	.	.	ENSG00000158258	ENST00000458420	T	0.48836	0.8	5.31	5.31	0.75309	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000016	T	0.71316	0.3325	M	0.84511	2.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.70454	-0.4867	10	0.30078	T	0.28	-12.468	16.836	0.85957	0.0:1.0:0.0:0.0	.	63	Q9H4D0	CSTN2_HUMAN	T	63	ENSP00000402460:P63T	ENSP00000402460:P63T	P	+	1	0	CLSTN2	141377560	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.887000	0.75616	2.621000	0.88768	0.650000	0.86243	CCA		0.463	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		40	6	1	0	1.96642e-18	0.006999	3.31775e-18	40	6				
ZIC1	7545	broad.mit.edu	37	3	147128676	147128676	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:147128676G>T	ENST00000282928.4	+	1	1506	c.777G>T	c.(775-777)gaG>gaT	p.E259D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	259					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TCACCGTGGAGCACGTAGGTG	0.552																																							uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(775-777)GAG>GAT		zinc finger protein of the cerebellum 1							102.0	96.0	98.0					3																	147128676		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128676G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.777G>T	3.37:g.147128676G>T	ENSP00000282928:p.Glu259Asp						p.E259D	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1496	+			259			C2H2-type 1; atypical.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.777G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720564	0.48728	.	.	ENSG00000152977	ENST00000282928	D	0.91295	-2.82	4.01	3.12	0.35913	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.91791	0.7403	M	0.69248	2.105	0.80722	D	1	B	0.19583	0.037	B	0.42112	0.376	D	0.89129	0.3508	10	0.51188	T	0.08	.	11.8111	0.52183	0.0878:0.0:0.9122:0.0	.	259	Q15915	ZIC1_HUMAN	D	259	ENSP00000282928:E259D	ENSP00000282928:E259D	E	+	3	2	ZIC1	148611366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.444000	0.52914	0.784000	0.33661	0.561000	0.74099	GAG		0.552	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		66	5	1	0	3.13296e-38	0.00361	6.46571e-38	66	5				
MED12L	116931	broad.mit.edu	37	3	151148145	151148145	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:151148145G>T	ENST00000474524.1	+	42	6400	c.6362G>T	c.(6361-6363)cGg>cTg	p.R2121L	MED12L_ENST00000273432.4_Missense_Mutation_p.R1785L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2121	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)			GCCTTGGTGCGGCAGCTCCAG	0.537																																							uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(6361-6363)CGG>CTG		mediator of RNA polymerase II transcription,							48.0	51.0	50.0					3																	151148145		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148145G>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.6362G>T	3.37:g.151148145G>T	ENSP00000417235:p.Arg2121Leu					MED12L_uc011bnz.1_Missense_Mutation_p.R1785L	p.R2121L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6400	+			2121			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.6362G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079250	0.94050	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.61627	0.28;0.09	5.11	5.11	0.69529	.	0.128430	0.51477	D	0.000095	T	0.66317	0.2777	L	0.29908	0.895	0.80722	D	1	D;D	0.63046	0.992;0.987	D;D	0.70487	0.969;0.931	T	0.69617	-0.5097	10	0.62326	D	0.03	-12.8825	17.2954	0.87169	0.0:0.0:1.0:0.0	.	1785;2121	F8WAE6;Q86YW9	.;MD12L_HUMAN	L	2121;1785	ENSP00000417235:R2121L;ENSP00000273432:R1785L	ENSP00000273432:R1785L	R	+	2	0	MED12L	152630835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.551000	0.73909	2.383000	0.81215	0.650000	0.86243	CGG		0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		60	7	1	0	1.72039e-30	0.00361	3.40255e-30	60	7				
GPR149	344758	broad.mit.edu	37	3	154146871	154146871	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:154146871C>A	ENST00000389740.2	-	1	633	c.534G>T	c.(532-534)acG>acT	p.T178T		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	178					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCCCCAGGGCGTGCGCACGA	0.667																																							uc003faa.2		NA																	0				ovary(6)	6						c.(532-534)ACG>ACT		G protein-coupled receptor 149							25.0	30.0	29.0					3																	154146871		2047	4190	6237	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146871C>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.534G>T	3.37:g.154146871C>A							p.T178T	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	634	-			178			Extracellular (Potential).			Silent	SNP	ENST00000389740.2	37	c.534G>T	CCDS43162.1																																																																																				0.667	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		18	28	1	0	5.01169e-05	0.00499	5.58424e-05	18	28				
SLITRK3	22865	broad.mit.edu	37	3	164906124	164906124	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:164906124G>A	ENST00000475390.1	-	2	2938	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	SLITRK3_ENST00000241274.3_Missense_Mutation_p.T832M			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	832					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.T832M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGATTCACCGTCACTATGGT	0.552										HNSCC(40;0.11)																													uc003fej.3		NA																	1	Substitution - Missense(1)	p.T832M(1)	ovary(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2494-2496)ACG>ATG		slit and trk like 3 protein precursor							106.0	104.0	105.0					3																	164906124		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906124G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2495C>T	3.37:g.164906124G>A	ENSP00000420091:p.Thr832Met	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.T832M	p.T832M	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2939	-			832			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2495C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715815	0.48622	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.58506	0.33;0.33	5.33	5.33	0.75918	.	0.000000	0.38897	N	0.001521	T	0.64616	0.2614	N	0.19112	0.55	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.68758	-0.5324	10	0.72032	D	0.01	-10.0278	17.9523	0.89057	0.0:0.0:1.0:0.0	.	832	O94933	SLIK3_HUMAN	M	832	ENSP00000420091:T832M;ENSP00000241274:T832M	ENSP00000241274:T832M	T	-	2	0	SLITRK3	166388818	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	3.418000	0.52721	2.778000	0.95560	0.655000	0.94253	ACG		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		18	82	0	0	0	0.00499	0	18	82				
SERPINI1	5274	broad.mit.edu	37	3	167507133	167507133	+	Missense_Mutation	SNP	C	C	T	rs369596299		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:167507133C>T	ENST00000295777.5	+	2	648	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	SERPINI1_ENST00000446050.2_Missense_Mutation_p.R73C	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	73					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAAAGAAATCCGCCACTCAAT	0.398																																							uc003ffa.3		NA																	0				skin(1)	1						c.(217-219)CGC>TGC		neuroserpin precursor		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	92.0	90.0		217,217	5.2	1.0	3		90	0,8600		0,0,4300	no	missense,missense	SERPINI1	NM_001122752.1,NM_005025.4	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	73/411,73/411	167507133	1,13005	2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167507133C>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.217C>T	3.37:g.167507133C>T	ENSP00000295777:p.Arg73Cys					SERPINI1_uc003ffb.3_Missense_Mutation_p.R73C	p.R73C	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			2	415	+			73					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.217C>T	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266941	0.80469	2.27E-4	0.0	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.23	5.23	0.72850	Serpin domain (3);	0.050704	0.85682	D	0.000000	D	0.92041	0.7478	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91935	0.5558	10	0.52906	T	0.07	.	19.1704	0.93575	0.0:1.0:0.0:0.0	.	73	Q99574	NEUS_HUMAN	C	73	ENSP00000420133:R73C;ENSP00000397373:R73C;ENSP00000295777:R73C;ENSP00000420561:R73C	ENSP00000295777:R73C	R	+	1	0	SERPINI1	168989827	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.989000	0.56958	2.573000	0.86826	0.655000	0.94253	CGC		0.398	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			13	26	0	0	0	0.001855	0	13	26				
LIPH	200879	broad.mit.edu	37	3	185241924	185241925	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:185241924_185241925CC>AT	ENST00000296252.4	-	5	793_794	c.652_653GG>AT	c.(652-654)GGa>ATa	p.G218I	LIPH_ENST00000424591.2_Missense_Mutation_p.G184I	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	218					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTCTATGTTTCCTAATGGCTCC	0.391																																							uc003fpm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(652-654)GGA>ATA		lipase, member H precursor																																				SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185241924_185241925CC>AT	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.652_653delinsAT	3.37:g.185241924_185241925delinsAT	ENSP00000296252:p.Gly218Ile					LIPH_uc010hyh.2_Missense_Mutation_p.G184I	p.G218I	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		5	762_763	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		218					A2IBA7|Q8TEC7	Missense_Mutation	DNP	ENST00000296252.4	37	c.652_653GG>AT	CCDS3272.1																																																																																				0.391	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			5	43	0	0	0	0.004672	0	5	43				
DGKG	1608	broad.mit.edu	37	3	185983091	185983091	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:185983091C>T	ENST00000265022.3	-	14	1753	c.1214G>A	c.(1213-1215)aGg>aAg	p.R405K	DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Missense_Mutation_p.R366K|DGKG_ENST00000344484.4_Missense_Mutation_p.R405K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	405					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTCACCTGGCCTGTCCTGTGA	0.448																																							uc003fqa.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1213-1215)AGG>AAG		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						65.0	56.0	59.0					3																	185983091		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185983091C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1214G>A	3.37:g.185983091C>T	ENSP00000265022:p.Arg405Lys					DGKG_uc003fqb.2_Missense_Mutation_p.R366K|DGKG_uc003fqc.2_Missense_Mutation_p.R405K|DGKG_uc011brx.1_Intron	p.R405K	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	14	1751	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		405					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1214G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347462	0.24426	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000538691	D;D;D	0.83914	-1.58;-1.59;-1.78	4.21	2.11	0.27256	.	0.205219	0.37178	N	0.002219	T	0.69043	0.3067	L	0.28608	0.87	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.19946	0.027;0.005;0.004	T	0.55897	-0.8068	10	0.24483	T	0.36	.	5.6951	0.17851	0.0:0.7104:0.0:0.2896	.	405;366;405	P49619-2;P49619-3;P49619	.;.;DGKG_HUMAN	K	405;405;366;369	ENSP00000265022:R405K;ENSP00000339777:R405K;ENSP00000371599:R366K	ENSP00000265022:R405K	R	-	2	0	DGKG	187465785	0.999000	0.42202	0.997000	0.53966	0.535000	0.34838	0.224000	0.17738	0.556000	0.29098	-0.156000	0.13503	AGG		0.448	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			11	28	0	0	0	0.000978	0	11	28				
LRRC15	131578	broad.mit.edu	37	3	194080366	194080366	+	Silent	SNP	G	G	A	rs140618656		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:194080366G>A	ENST00000347624.3	-	2	1492	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	LRRC15_ENST00000439944.2_Silent_p.V475V|LRRC15_ENST00000428839.1_Silent_p.V475V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	469	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAGCAACGTTGACATTGATGA	0.547																																							uc003ftu.2		NA																	0				ovary(3)	3						c.(1405-1407)GTC>GTT		leucine rich repeat containing 15 isoform b							143.0	124.0	130.0					3																	194080366		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194080366G>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1407C>T	3.37:g.194080366G>A						LRRC15_uc003ftt.2_Silent_p.V475V	p.V469V	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1493	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		469			LRRCT.|Extracellular (Potential).		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.1407C>T	CCDS3306.1																																																																																				0.547	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			27	1	0	0	0	0.005443	0	27	1				
RGS12	6002	broad.mit.edu	37	4	3432304	3432304	+	Missense_Mutation	SNP	G	G	C	rs150739035		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:3432304G>C	ENST00000344733.5	+	17	4640	c.3736G>C	c.(3736-3738)Gcc>Ccc	p.A1246P	RGS12_ENST00000338806.4_Missense_Mutation_p.A598P|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.A1246P|RGS12_ENST00000306648.7_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.A1246P	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1246					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAGAGAAGCGCCACAGGCAA	0.652																																							uc003ggw.2		NA																	0				skin(1)	1						c.(3736-3738)GCC>CCC		regulator of G-protein signalling 12 isoform 1							51.0	36.0	41.0					4																	3432304		2201	4300	6501	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432304G>C	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3736G>C	4.37:g.3432304G>C	ENSP00000339381:p.Ala1246Pro					RGS12_uc003ggv.2_Missense_Mutation_p.A1246P|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.A598P|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.A588P|RGS12_uc010icv.2_Missense_Mutation_p.A445P	p.A1246P	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4640	+			1246					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3736G>C	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359438	0.41801	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.35421	1.6;1.6;1.6;1.31	4.62	3.75	0.43078	.	2.338720	0.01652	N	0.024628	T	0.39009	0.1062	L	0.29908	0.895	0.19575	N	0.999967	P;P;P;P	0.45569	0.861;0.861;0.782;0.861	P;P;B;P	0.48627	0.501;0.584;0.38;0.504	T	0.36768	-0.9734	10	0.13853	T	0.58	-0.5256	11.7305	0.51735	0.0:0.0:0.642:0.358	.	588;598;1246;1246	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	P	1246;1246;1246;598	ENSP00000339381:A1246P;ENSP00000338509:A1246P;ENSP00000372238:A1246P;ENSP00000342133:A598P	ENSP00000338509:A1246P	A	+	1	0	RGS12	3402102	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	0.941000	0.29005	0.878000	0.35920	0.655000	0.94253	GCC		0.652	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		12	5	0	0	0	0.000978	0	12	5				
LRPAP1	4043	broad.mit.edu	37	4	3521898	3521898	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:3521898C>T	ENST00000500728.2	-	3	518	c.372G>A	c.(370-372)ctG>ctA	p.L124L	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	124					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCTTTCCGTCCAGACCATACT	0.542																																							uc003ghi.2		NA																	0				ovary(1)|skin(1)	2						c.(370-372)CTG>CTA		low density lipoprotein receptor-related protein							115.0	111.0	112.0					4																	3521898		2203	4300	6503	SO:0001819	synonymous_variant	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3521898C>T		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.372G>A	4.37:g.3521898C>T							p.L124L	NM_002337	NP_002328	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	3	457	-			124					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	37	c.372G>A	CCDS3371.1																																																																																				0.542	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			5	27	0	0	0	0.000602	0	5	27				
SLC2A9	56606	broad.mit.edu	37	4	9922190	9922190	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:9922190T>C	ENST00000264784.3	-	7	874	c.821A>G	c.(820-822)cAa>cGa	p.Q274R	SLC2A9_ENST00000506583.1_Missense_Mutation_p.Q245R|RP13-560N11.1_ENST00000504249.1_RNA|SLC2A9_ENST00000309065.3_Missense_Mutation_p.Q245R	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	274					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)			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)	CAAGAACGTTTGGAAGGCTGC	0.582																																							uc003gmc.2		NA																	0				ovary(3)	3						c.(820-822)CAA>CGA		solute carrier family 2, member 9 protein							49.0	43.0	45.0					4																	9922190		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9922190T>C	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.821A>G	4.37:g.9922190T>C	ENSP00000264784:p.Gln274Arg					SLC2A9_uc003gmd.2_Missense_Mutation_p.Q245R	p.Q274R	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			7	882	-			274			Cytoplasmic (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.821A>G	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	T	0.640	-0.813570	0.02798	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.80566	-0.85;-1.39;-0.85	4.76	0.873	0.19118	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.288218	0.36444	N	0.002591	T	0.61261	0.2333	N	0.16862	0.45	0.30306	N	0.788991	B;B	0.06786	0.001;0.001	B;B	0.13407	0.005;0.009	T	0.49542	-0.8929	9	.	.	.	.	8.0933	0.30813	0.0:0.306:0.0:0.694	.	245;274	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	R	245;274;245	ENSP00000422209:Q245R;ENSP00000264784:Q274R;ENSP00000311383:Q245R	.	Q	-	2	0	SLC2A9	9531288	0.993000	0.37304	0.816000	0.32577	0.304000	0.27724	0.357000	0.20199	-0.011000	0.14247	0.528000	0.53228	CAA		0.582	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			6	5	0	0	0	0.001168	0	6	5				
CD38	952	broad.mit.edu	37	4	15841733	15841733	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:15841733A>G	ENST00000226279.3	+	6	881	c.744A>G	c.(742-744)gaA>gaG	p.E248E		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	248					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GTGGAAGAGAAGATTCCAGGT	0.413																																							uc011bxc.1		NA																	0				ovary(2)	2						c.(742-744)GAA>GAG		CD38 antigen							163.0	166.0	165.0					4																	15841733		2203	4300	6503	SO:0001819	synonymous_variant	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15841733A>G	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.744A>G	4.37:g.15841733A>G						CD38_uc003gol.1_Silent_p.E248E	p.E248E	NM_001775	NP_001766	P28907	CD38_HUMAN			6	851	+			248			Extracellular (Potential).		O00121|O00122|Q96HY4	Silent	SNP	ENST00000226279.3	37	c.744A>G	CCDS3417.1																																																																																				0.413	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		50	9	0	0	0	0.00361	0	50	9				
KLF3	51274	broad.mit.edu	37	4	38698816	38698816	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:38698816G>A	ENST00000261438.5	+	6	1275	c.970G>A	c.(970-972)Gac>Aac	p.D324N		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	324					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CCAGTGCCCGGACTGTGACCG	0.512																																							uc003gth.3		NA																	0				ovary(1)|lung(1)	2						c.(970-972)GAC>AAC		Kruppel-like factor 3 (basic)							215.0	188.0	197.0					4																	38698816		2203	4300	6503	SO:0001583	missense	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38698816G>A	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.970G>A	4.37:g.38698816G>A	ENSP00000261438:p.Asp324Asn						p.D324N	NM_016531	NP_057615	P57682	KLF3_HUMAN			6	1302	+			324			C2H2-type 3.		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	c.970G>A	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	G	36	5.735679	0.96865	.	.	ENSG00000109787	ENST00000261438	T	0.35789	1.29	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	N	0.05280	-0.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45026	-0.9289	10	0.23891	T	0.37	.	19.6332	0.95719	0.0:0.0:1.0:0.0	.	324	P57682	KLF3_HUMAN	N	324	ENSP00000261438:D324N	ENSP00000261438:D324N	D	+	1	0	KLF3	38375211	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.642000	0.89623	0.650000	0.86243	GAC		0.512	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			44	12	0	0	0	0.003214	0	44	12				
GABRG1	2565	broad.mit.edu	37	4	46066481	46066481	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:46066481G>T	ENST00000295452.4	-	5	769	c.602C>A	c.(601-603)tCc>tAc	p.S201Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	201					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGTGGACAGGAATGTTCATC	0.269																																							uc003gxb.2		NA																	0				ovary(2)	2						c.(601-603)TCC>TAC		gamma-aminobutyric acid A receptor, gamma 1							69.0	77.0	74.0					4																	46066481		2202	4285	6487	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46066481G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.602C>A	4.37:g.46066481G>T	ENSP00000295452:p.Ser201Tyr						p.S201Y	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	5	754	-			201			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.602C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754311	0.89843	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79845	-1.31	5.8	5.8	0.92144	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89949	0.6863	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90358	0.4371	10	0.87932	D	0	.	19.0345	0.92971	0.0:0.0:1.0:0.0	.	201	Q8N1C3	GBRG1_HUMAN	Y	201	ENSP00000295452:S201Y	ENSP00000295452:S201Y	S	-	2	0	GABRG1	45761238	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.946000	0.87746	2.729000	0.93468	0.561000	0.74099	TCC		0.269	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		22	11	1	0	1.85244e-09	0.00333	2.40244e-09	22	11				
PDGFRA	5156	broad.mit.edu	37	4	55133888	55133888	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:55133888G>A	ENST00000257290.5	+	7	1432	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	367	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CCACTGATGTGGAAAAGATTC	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1099-1101)GTG>GTA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						41.0	39.0	40.0					4																	55133888		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133888G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1101G>A	4.37:g.55133888G>A		TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.V261V|PDGFRA_uc003ham.2_RNA	p.V367V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1432	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		367			Ig-like C2-type 4.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.1101G>A	CCDS3495.1																																																																																				0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		9	4	0	0	0	0.006214	0	9	4				
UBA6	55236	broad.mit.edu	37	4	68539437	68539437	+	Missense_Mutation	SNP	C	C	T	rs147806141	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:68539437C>T	ENST00000322244.5	-	7	583	c.524G>A	c.(523-525)cGt>cAt	p.R175H	UBA6_ENST00000420827.2_Missense_Mutation_p.R175H	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	175					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCACTGAGAACGGCAAAAGTC	0.318													C|||	4	0.000798722	0.003	0.0	5008	,	,		16567	0.0		0.0	False		,,,				2504	0.0						uc003hdg.3		NA																	0					0						c.(523-525)CGT>CAT		ubiquitin-activating enzyme E1-like 2		C	HIS/ARG	10,4396	15.5+/-35.6	0,10,2193	136.0	130.0	132.0		524	0.3	1.0	4	dbSNP_134	132	1,8597	1.2+/-3.3	0,1,4298	yes	missense	UBA6	NM_018227.5	29	0,11,6491	TT,TC,CC		0.0116,0.227,0.0846	benign	175/1053	68539437	11,12993	2203	4299	6502	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68539437C>T	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.524G>A	4.37:g.68539437C>T	ENSP00000313454:p.Arg175His					UBA6_uc003hdi.2_Missense_Mutation_p.R175H|UBA6_uc003hdj.2_Missense_Mutation_p.R175H	p.R175H	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			7	576	-			175					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.524G>A	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	5.728	0.318764	0.10845	0.00227	1.16E-4	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.25414	1.8;1.8	5.36	0.258	0.15578	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.355162	0.31847	N	0.006975	T	0.08846	0.0219	N	0.04820	-0.15	0.23386	N	0.997784	B;B;B	0.21309	0.009;0.019;0.054	B;B;B	0.22152	0.012;0.008;0.038	T	0.39663	-0.9603	10	0.02654	T	1	-14.5983	8.4155	0.32668	0.0:0.2579:0.0:0.7421	.	175;175;175	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	H	175	ENSP00000313454:R175H;ENSP00000399234:R175H	ENSP00000313454:R175H	R	-	2	0	UBA6	68222032	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	0.800000	0.27042	0.097000	0.17492	0.644000	0.83932	CGT		0.318	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		46	8	0	0	0	0.00361	0	46	8				
UGT2B27P	54569	broad.mit.edu	37	4	69885519	69885519	+	IGR	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:69885519G>T								UGT2A3 (68010 upstream) : UGT2B7 (31674 downstream)																							CATAACAACAGGTACGTAGGA	0.378																																						Melanoma(133;755 1763 25578 26334 46021)	uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(469-471)CCT>CAT		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							49.0	40.0	42.0					4																	69885519		692	1590	2282	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69885519G>T																													4.37:g.69885519G>T						UGT2B10_uc011can.1_Intron	p.P157H			P36537	UDB10_HUMAN			4	606	-			194						Missense_Mutation	SNP		37	c.470C>A																																																																																				0	0.378									42	13	1	0	7.63091e-17	0.007835	1.23342e-16	42	13				
CSN1S1	1446	broad.mit.edu	37	4	70799955	70799955	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:70799955G>C	ENST00000246891.4	+	3	126	c.77G>C	c.(76-78)cGc>cCc	p.R26P	CSN1S1_ENST00000505782.1_Missense_Mutation_p.R26P|CSN1S1_ENST00000507772.1_Missense_Mutation_p.R26P|CSN1S1_ENST00000507763.1_Missense_Mutation_p.R26P|CSN1S1_ENST00000444405.3_Missense_Mutation_p.R26P	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	26						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TACCCAGAACGCCTTCAGGTA	0.338																																							uc003hep.1		NA																	0					0						c.(76-78)CGC>CCC		casein alpha s1 isoform 1							120.0	111.0	114.0					4																	70799955		1832	4077	5909	SO:0001583	missense	1446					extracellular region	protein binding|transporter activity	g.chr4:70799955G>C	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.77G>C	4.37:g.70799955G>C	ENSP00000246891:p.Arg26Pro					CSN1S1_uc003heq.1_Missense_Mutation_p.R26P|CSN1S1_uc003her.1_Missense_Mutation_p.R26P	p.R26P	NM_001890	NP_001881	P47710	CASA1_HUMAN			3	126	+			26					A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	c.77G>C	CCDS47067.1	.	.	.	.	.	.	.	.	.	.	G	4.349	0.064192	0.08388	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782	T;T;T;T;T	0.47528	0.85;0.84;0.84;0.85;0.85	3.55	-0.507	0.11985	.	2.248840	0.02091	N	0.053101	T	0.27349	0.0671	N	0.08118	0	0.09310	N	1.0	B;B;B	0.28998	0.23;0.23;0.23	B;B;B	0.29524	0.103;0.103;0.103	T	0.13388	-1.0511	9	0.32370	T	0.25	1.5823	4.604	0.12368	0.1959:0.0:0.3801:0.424	.	26;26;26	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	P	26	ENSP00000246891:R26P;ENSP00000413157:R26P;ENSP00000422611:R26P;ENSP00000427490:R26P;ENSP00000426684:R26P	ENSP00000246891:R26P	R	+	2	0	CSN1S1	70834544	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.297000	0.08276	-0.063000	0.13065	-0.256000	0.11100	CGC		0.338	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			21	6	0	0	0	0.00333	0	21	6				
HTN1	3346	broad.mit.edu	37	4	70921224	70921224	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:70921224C>A	ENST00000511674.1	+	5	183	c.112C>A	c.(112-114)Cat>Aat	p.H38N	HTN1_ENST00000246896.3_Missense_Mutation_p.H38N			P15515	HIS1_HUMAN	histatin 1	38					biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						GGAAAAGCATCATTCACATCG	0.338																																							uc003hex.2		NA																	0				skin(1)	1						c.(112-114)CAT>AAT		histatin 1 precursor							125.0	113.0	117.0					4																	70921224		2202	4299	6501	SO:0001583	missense	3346				biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr4:70921224C>A		CCDS3534.1	4q13	2008-02-05			ENSG00000126550	ENSG00000126550			5283	protein-coding gene	gene with protein product		142701					Standard	NM_002159		Approved	HIS1	uc003hex.3	P15515	OTTHUMG00000129397	ENST00000511674.1:c.112C>A	4.37:g.70921224C>A	ENSP00000424501:p.His38Asn						p.H38N	NM_002159	NP_002150	P15515	HIS1_HUMAN			5	179	+			38						Missense_Mutation	SNP	ENST00000511674.1	37	c.112C>A	CCDS3534.1	.	.	.	.	.	.	.	.	.	.	C	4.661	0.122978	0.08931	.	.	ENSG00000126550	ENST00000246896;ENST00000511674	T;T	0.61627	0.09;0.09	1.23	-1.08	0.09936	.	.	.	.	.	T	0.38295	0.1035	.	.	.	0.09310	N	1	B	0.27823	0.19	B	0.19666	0.026	T	0.28427	-1.0044	8	0.87932	D	0	.	2.565	0.04781	0.0:0.4485:0.3146:0.2369	.	38	P15515	HIS1_HUMAN	N	38	ENSP00000246896:H38N;ENSP00000424501:H38N	ENSP00000246896:H38N	H	+	1	0	HTN1	70955813	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-2.063000	0.01388	-0.407000	0.07576	0.313000	0.20887	CAT		0.338	HTN1-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362220.2			7	2	1	0	8.12818e-05	0.001984	8.99342e-05	7	2				
ANKRD17	26057	broad.mit.edu	37	4	73979623	73979623	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:73979623C>A	ENST00000358602.4	-	24	4403	c.4287G>T	c.(4285-4287)gaG>gaT	p.E1429D	ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1178D|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E1316D	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1429					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTCAGCATCTCCTATAATG	0.368																																							uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(4285-4287)GAG>GAT		ankyrin repeat domain protein 17 isoform a							98.0	98.0	98.0					4																	73979623		2203	4299	6502	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73979623C>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4287G>T	4.37:g.73979623C>A	ENSP00000351416:p.Glu1429Asp					ANKRD17_uc003hgo.2_Missense_Mutation_p.E1316D|ANKRD17_uc003hgq.2_Missense_Mutation_p.E1178D|ANKRD17_uc003hgr.2_Missense_Mutation_p.E1428D|ANKRD17_uc011cbd.1_Missense_Mutation_p.E994D	p.E1429D	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		24	4404	-	Breast(15;0.000295)		1429					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4287G>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338294	0.41398	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.69175	1.58;-0.34;-0.38	5.07	2.26	0.28386	.	0.000000	0.64402	D	0.000009	T	0.64505	0.2604	N	0.19112	0.55	0.37395	D	0.912615	B;D;D;D;P	0.61697	0.008;0.99;0.99;0.984;0.915	B;D;D;D;B	0.73380	0.007;0.98;0.98;0.956;0.444	T	0.61267	-0.7097	10	0.23302	T	0.38	.	9.5116	0.39080	0.0:0.6189:0.0:0.3811	.	950;1428;1178;1429;1316	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	D	1429;1178;1316	ENSP00000351416:E1429D;ENSP00000332265:E1178D;ENSP00000427151:E1316D	ENSP00000332265:E1178D	E	-	3	2	ANKRD17	74198487	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.719000	0.38011	0.202000	0.20498	-0.378000	0.06908	GAG		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		44	9	1	0	5.20837e-25	0.00874	9.75884e-25	44	9				
PPEF2	5470	broad.mit.edu	37	4	76817470	76817470	+	Missense_Mutation	SNP	G	G	T	rs367898608		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:76817470G>T	ENST00000286719.7	-	2	365	c.9C>A	c.(7-9)agC>agA	p.S3R	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	3					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGAGGTGCCGCTTCCCATAG	0.488											OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(105;1359 1603 15961 44567 47947)	NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(7-9)AGC>AGA		serine/threonine protein phosphatase with							175.0	151.0	159.0					4																	76817470		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76817470G>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.9C>A	4.37:g.76817470G>T	ENSP00000286719:p.Ser3Arg		OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.S3R	p.S3R	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	366	-			3					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.9C>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	7.326	0.618014	0.14129	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.43294	0.95	5.31	-6.09	0.02145	.	0.847902	0.09800	U	0.754241	T	0.25306	0.0615	N	0.22421	0.69	0.24488	N	0.99432	B;B	0.14438	0.01;0.006	B;B	0.15484	0.013;0.006	T	0.25222	-1.0138	10	0.72032	D	0.01	.	9.9818	0.41817	0.6317:0.1015:0.2668:0.0	.	3;3	O14830-2;O14830	.;PPE2_HUMAN	R	3	ENSP00000286719:S3R	ENSP00000286719:S3R	S	-	3	2	PPEF2	77036494	0.655000	0.27376	0.322000	0.25334	0.138000	0.21146	-0.692000	0.05127	-1.475000	0.01876	-0.219000	0.12488	AGC		0.488	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		38	7	1	0	3.38236e-24	0.006999	6.27963e-24	38	7				
GK2	2712	broad.mit.edu	37	4	80329142	80329142	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:80329142C>A	ENST00000358842.3	-	1	230	c.213G>T	c.(211-213)acG>acT	p.T71T		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	228					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)			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						GTTTCTCACACGTTCTCGCTA	0.403																																							uc003hlu.2		NA																	0				ovary(2)|skin(2)	4						c.(211-213)ACG>ACT		glycerol kinase 2							179.0	176.0	177.0					4																	80329142		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329142C>A	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.213G>T	4.37:g.80329142C>A							p.T71T	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	231	-			71					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.213G>T	CCDS3585.1																																																																																				0.403	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		73	16	1	0	1.1397e-45	0.00361	2.39371e-45	73	16				
HNRNPDL	9987	broad.mit.edu	37	4	83350672	83350672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:83350672G>A	ENST00000295470.5	-	1	347	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.Q58*|HNRNPDL_ENST00000602300.1_5'Flank|HNRNPDL_ENST00000514511.1_5'Flank|HNRNPDL_ENST00000349655.4_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	58					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										ACGTGGCGCTGGGCCCGGCGC	0.761																																							uc003hmr.2		NA																	0				skin(1)	1						c.(172-174)CAG>TAG		heterogeneous nuclear ribonucleoprotein D-like							4.0	5.0	5.0					4																	83350672		1659	3545	5204	SO:0001587	stop_gained	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83350672G>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.172C>T	4.37:g.83350672G>A	ENSP00000295470:p.Gln58*					ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Nonsense_Mutation_p.Q58*	p.Q58*	NM_031372	NP_112740	O14979	HNRDL_HUMAN			1	707	-		Hepatocellular(203;0.114)	58					Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Nonsense_Mutation	SNP	ENST00000295470.5	37	c.172C>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	g	41	8.631580	0.98892	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	.	.	.	4.55	3.63	0.41609	.	1.486170	0.04193	N	0.328725	.	.	.	.	.	.	0.44402	D	0.997313	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	10.7007	0.45926	0.0:0.0:0.8095:0.1905	.	.	.	.	X	58	.	ENSP00000295470:Q58X	Q	-	1	0	HNRPDL	83569696	0.997000	0.39634	0.989000	0.46669	0.950000	0.60333	3.701000	0.54793	2.236000	0.73375	0.305000	0.20034	CAG		0.761	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		7	0	0	0	0	0.00308	0	7	0				
MEPE	56955	broad.mit.edu	37	4	88766836	88766836	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:88766836T>A	ENST00000424957.3	+	4	889	c.816T>A	c.(814-816)acT>acA	p.T272T	MEPE_ENST00000540395.1_Silent_p.T159T|MEPE_ENST00000395102.4_Silent_p.T303T|MEPE_ENST00000497649.2_Silent_p.T248T|MEPE_ENST00000560249.1_Silent_p.T159T|MEPE_ENST00000361056.3_Silent_p.T272T|MEPE_ENST00000508016.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	272					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAGAAGCTACTGGTCCTGACC	0.448																																							uc003hqy.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(814-816)ACT>ACA		matrix, extracellular phosphoglycoprotein with							56.0	56.0	56.0					4																	88766836		2203	4300	6503	SO:0001819	synonymous_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766836T>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.816T>A	4.37:g.88766836T>A						MEPE_uc010ikn.2_Silent_p.T159T	p.T272T	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	855	+		Hepatocellular(203;0.114)	272					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Silent	SNP	ENST00000424957.3	37	c.816T>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330804	0.24167	.	.	ENSG00000152595	ENST00000535138	.	.	.	4.18	-8.36	0.00980	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37009	-0.9724	5	0.72032	D	0.01	-0.0044	1.1993	0.01881	0.2467:0.1701:0.3767:0.2065	.	.	.	.	Q	272	.	ENSP00000445423:L272Q	L	+	2	0	MEPE	88985860	0.000000	0.05858	0.000000	0.03702	0.537000	0.34900	-0.146000	0.10250	-1.871000	0.01138	0.459000	0.35465	CTG		0.448	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			25	7	0	0	0	0.004656	0	25	7				
ADH5	128	broad.mit.edu	37	4	100002601	100002601	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:100002601C>A	ENST00000296412.8	-	4	309	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		ATGACAGTGTCACCTGGAAAC	0.378																																							uc003hui.2		NA																	0				ovary(1)	1						c.(259-261)GAC>TAC		class III alcohol dehydrogenase, chi subunit	NADH(DB00157)						64.0	59.0	61.0					4																	100002601		1878	4111	5989	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:100002601C>A	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.259G>T	4.37:g.100002601C>A	ENSP00000296412:p.Asp87Tyr					ADH5_uc003huk.1_Missense_Mutation_p.D87Y|ADH5_uc003huj.2_5'UTR	p.D87Y	NM_000671	NP_000662	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	4	339	-			87						Missense_Mutation	SNP	ENST00000296412.8	37	c.259G>T	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486962	0.84854	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.07908	3.15;3.15	4.88	4.88	0.63580	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	H	0.99689	4.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76564	-0.2913	9	.	.	.	.	18.292	0.90134	0.0:1.0:0.0:0.0	.	87;87	Q5U043;P11766	.;ADHX_HUMAN	Y	87;74	ENSP00000296412:D87Y;ENSP00000427049:D74Y	.	D	-	1	0	ADH5	100221624	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.105000	0.77031	2.554000	0.86153	0.644000	0.83932	GAC		0.378	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		10	1	1	0	3.86212e-05	0.008291	4.31346e-05	10	1				
PITX2	5308	broad.mit.edu	37	4	111553593	111553593	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:111553593G>T	ENST00000354925.2	-	5	1795	c.90C>A	c.(88-90)tcC>tcA	p.S30S	PITX2_ENST00000394598.2_Silent_p.S30S|PITX2_ENST00000394595.3_Silent_p.S30S|PITX2_ENST00000355080.5_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	30					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTTTGATTTCGGAGTCTTTGG	0.652																																							uc003iad.2		NA																	0					0						c.(88-90)TCC>TCA		paired-like homeodomain transcription factor 2							59.0	71.0	67.0					4																	111553593		2203	4300	6503	SO:0001819	synonymous_variant	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	g.chr4:111553593G>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.90C>A	4.37:g.111553593G>T						PITX2_uc003iae.2_Intron|PITX2_uc010iml.2_5'UTR|PITX2_uc003iaf.2_Silent_p.S30S	p.S30S	NM_153426	NP_700475	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	3	672	-		Hepatocellular(203;0.217)	30					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Silent	SNP	ENST00000354925.2	37	c.90C>A	CCDS3692.1																																																																																				0.652	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			34	5	1	0	2.19358e-23	0.005524	4.04095e-23	34	5				
ANK2	287	broad.mit.edu	37	4	114290745	114290745	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:114290745T>A	ENST00000357077.4	+	43	11447	c.11394T>A	c.(11392-11394)ccT>ccA	p.P3798P	ANK2_ENST00000506722.1_Silent_p.P1704P|ANK2_ENST00000510275.2_Silent_p.P365P|ANK2_ENST00000394537.3_Silent_p.P1713P|ANK2_ENST00000264366.6_Silent_p.P3765P|ANK2_ENST00000509550.1_Silent_p.P889P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3798					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAGACACCTGAGGAAGTTA	0.527																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(11392-11394)CCT>CCA		ankyrin 2 isoform 1							66.0	67.0	67.0					4																	114290745		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114290745T>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11394T>A	4.37:g.114290745T>A						ANK2_uc003ibd.3_Silent_p.P1704P|ANK2_uc003ibf.3_Silent_p.P1713P|ANK2_uc011cgc.1_Silent_p.P889P|ANK2_uc003ibg.3_Silent_p.P697P|ANK2_uc003ibh.3_Silent_p.P387P|ANK2_uc011cgd.1_Silent_p.P1100P	p.P3798P	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	43	11494	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3765					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.11394T>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394356	0.25205	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.66	-2.07	0.07276	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6456	0.00818	0.2311:0.2327:0.1191:0.4171	.	.	.	.	R	715	.	.	X	+	1	0	ANK2	114510194	0.956000	0.32656	0.984000	0.44739	0.875000	0.50365	-0.034000	0.12225	-0.134000	0.11516	0.528000	0.53228	TGA		0.527	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		24	11	0	0	0	0.00278	0	24	11				
PCDH18	54510	broad.mit.edu	37	4	138442648	138442648	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:138442648C>G	ENST00000344876.4	-	4	3329	c.2943G>C	c.(2941-2943)aaG>aaC	p.K981N	PCDH18_ENST00000507846.1_Missense_Mutation_p.K760N|PCDH18_ENST00000412923.2_Missense_Mutation_p.K980N|PCDH18_ENST00000511115.1_Missense_Mutation_p.K161N|PCDH18_ENST00000510305.1_Missense_Mutation_p.K192N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	981	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGAAAAACTCTTCTTCTTTT	0.517																																							uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(2941-2943)AAG>AAC		protocadherin 18 precursor							95.0	88.0	91.0					4																	138442648		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442648C>G	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2943G>C	4.37:g.138442648C>G	ENSP00000355082:p.Lys981Asn					PCDH18_uc003ihf.3_Missense_Mutation_p.K973N|PCDH18_uc011cgz.1_Missense_Mutation_p.K192N|PCDH18_uc003ihg.3_Missense_Mutation_p.K760N|PCDH18_uc011cha.1_Missense_Mutation_p.K161N	p.K981N	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			4	3330	-	all_hematologic(180;0.24)		981			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2943G>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892738	0.52121	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.59083	0.38;0.39;0.29;1.11;1.12	4.85	4.01	0.46588	.	0.000000	0.45361	D	0.000366	T	0.60274	0.2256	M	0.72894	2.215	0.58432	D	0.999992	D;P;B;P	0.53745	0.962;0.799;0.112;0.799	P;B;B;B	0.44990	0.466;0.343;0.029;0.343	T	0.66681	-0.5862	10	0.87932	D	0	.	13.1024	0.59228	0.0:0.9222:0.0:0.0778	.	161;760;980;981	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	N	981;980;760;192;161	ENSP00000355082:K981N;ENSP00000390688:K980N;ENSP00000425903:K760N;ENSP00000424269:K192N;ENSP00000425647:K161N	ENSP00000355082:K981N	K	-	3	2	PCDH18	138662098	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.935000	0.48963	1.039000	0.40074	-0.140000	0.14226	AAG		0.517	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		30	8	0	0	0	0.008361	0	30	8				
INPP4B	8821	broad.mit.edu	37	4	143033733	143033733	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:143033733A>G	ENST00000513000.1	-	23	2671	c.2238T>C	c.(2236-2238)ttT>ttC	p.F746F	INPP4B_ENST00000508116.1_Silent_p.F746F|INPP4B_ENST00000308502.4_Silent_p.F746F|INPP4B_ENST00000509777.1_Silent_p.F746F|INPP4B_ENST00000262992.4_Silent_p.F746F	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	746					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCCAACATTAAAAAGTACTG	0.388																																							uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.(2236-2238)TTT>TTC		inositol polyphosphate-4-phosphatase, type II,							148.0	147.0	147.0					4																	143033733		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143033733A>G	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2238T>C	4.37:g.143033733A>G						INPP4B_uc003iiw.3_Silent_p.F746F|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.F561F|INPP4B_uc011cho.1_RNA	p.F746F	NM_003866	NP_003857	O15327	INP4B_HUMAN			23	2833	-	all_hematologic(180;0.158)		746					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.2238T>C	CCDS3757.1																																																																																				0.388	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		51	7	0	0	0	0.00361	0	51	7				
SMARCA5	8467	broad.mit.edu	37	4	144469250	144469250	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:144469250C>T	ENST00000283131.3	+	22	3404	c.2942C>T	c.(2941-2943)cCt>cTt	p.P981L		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	981	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGCAACTCTCCTCAGTTCAGA	0.383																																							uc003ijg.2		NA																	0				skin(1)	1						c.(2941-2943)CCT>CTT		SWI/SNF-related matrix-associated							87.0	83.0	84.0					4																	144469250		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144469250C>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2942C>T	4.37:g.144469250C>T	ENSP00000283131:p.Pro981Leu						p.P981L	NM_003601	NP_003592	O60264	SMCA5_HUMAN			22	3404	+	all_hematologic(180;0.158)		981			SANT 2.			Missense_Mutation	SNP	ENST00000283131.3	37	c.2942C>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	35	5.536446	0.96460	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91686	-2.89	5.93	5.93	0.95920	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97176	0.9077	M	0.93507	3.425	0.80722	D	1	D	0.60575	0.988	D	0.64776	0.929	D	0.97450	1.0027	10	0.87932	D	0	-5.2904	20.3368	0.98748	0.0:1.0:0.0:0.0	.	981	O60264	SMCA5_HUMAN	L	981;924;924	ENSP00000283131:P981L	ENSP00000283131:P981L	P	+	2	0	SMARCA5	144688700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.810000	0.86072	2.805000	0.96524	0.655000	0.94253	CCT		0.383	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			17	4	0	0	0	0.006122	0	17	4				
LRBA	987	broad.mit.edu	37	4	151770033	151770033	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:151770033T>A	ENST00000357115.3	-	26	4519	c.4276A>T	c.(4276-4278)Act>Tct	p.T1426S	LRBA_ENST00000507224.1_Missense_Mutation_p.T1426S|LRBA_ENST00000535741.1_Missense_Mutation_p.T1426S|LRBA_ENST00000510413.1_Missense_Mutation_p.T1426S	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1426						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)				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)					TCAATTTCAGTAAAGCCAAGA	0.403																																							uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(4276-4278)ACT>TCT		LPS-responsive vesicle trafficking, beach and							104.0	108.0	106.0					4																	151770033		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151770033T>A	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.4276A>T	4.37:g.151770033T>A	ENSP00000349629:p.Thr1426Ser					LRBA_uc003ilt.3_Missense_Mutation_p.T85S|LRBA_uc003ilu.3_Missense_Mutation_p.T1426S	p.T1426S	NM_006726	NP_006717	P50851	LRBA_HUMAN			26	4750	-	all_hematologic(180;0.151)		1426					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4276A>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.217|5.217	0.225539|0.225539	0.09916|0.09916	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839	.|T;T;T;T	.|0.50548	.|1.16;1.32;1.16;0.74	5.9|5.9	3.49|3.49	0.39957|0.39957	.|.	.|0.057744	.|0.64402	.|D	.|0.000002	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.01277|0.01277	-0.915|-0.915	0.43296|0.43296	D|D	0.995282|0.995282	.|B;B	.|0.25441	.|0.077;0.126	.|B;B	.|0.21360	.|0.015;0.034	T|T	0.23226|0.23226	-1.0194|-1.0194	5|10	.|0.02654	.|T	.|1	.|.	8.5428|8.5428	0.33404|0.33404	0.0:0.2076:0.0:0.7924|0.0:0.2076:0.0:0.7924	.|.	.|1426;1426	.|P50851;P50851-2	.|LRBA_HUMAN;.	F|S	78|1426;1426;1426;1426;3	.|ENSP00000446299:T1426S;ENSP00000421552:T1426S;ENSP00000349629:T1426S;ENSP00000422180:T1426S	.|ENSP00000349629:T1426S	L|T	-|-	3|1	2|0	LRBA|LRBA	151989483|151989483	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	5.109000|5.109000	0.64615|0.64615	0.506000|0.506000	0.28125|0.28125	-0.256000|-0.256000	0.11100|0.11100	TTA|ACT		0.403	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			43	8	0	0	0	0.002852	0	43	8				
NPY2R	4887	broad.mit.edu	37	4	156135158	156135158	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:156135158G>T	ENST00000329476.3	+	2	556	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	NPY2R_ENST00000506608.1_Missense_Mutation_p.G23W	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	23					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GGAACAATACGGGCCACAAAC	0.488																																							uc003ioq.2		NA																	0				lung(2)|skin(1)	3						c.(67-69)GGG>TGG		neuropeptide Y receptor Y2							166.0	153.0	157.0					4																	156135158		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135158G>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.67G>T	4.37:g.156135158G>T	ENSP00000332591:p.Gly23Trp					NPY2R_uc003ior.2_Missense_Mutation_p.G23W	p.G23W	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	562	+	all_hematologic(180;0.24)	Renal(120;0.0854)	23			Extracellular (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.67G>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	0.763	-0.768718	0.02974	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70631	-0.5;-0.5	5.4	2.53	0.30540	.	0.756631	0.12821	N	0.436456	T	0.46367	0.1389	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31530	-0.9940	10	0.41790	T	0.15	.	5.2366	0.15450	0.0792:0.1175:0.597:0.2063	.	23	P49146	NPY2R_HUMAN	W	23	ENSP00000332591:G23W;ENSP00000426366:G23W	ENSP00000332591:G23W	G	+	1	0	NPY2R	156354608	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.648000	0.24828	0.742000	0.32697	0.637000	0.83480	GGG		0.488	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		39	3	1	0	9.8876e-21	0.004878	1.74257e-20	39	3				
NPY1R	4886	broad.mit.edu	37	4	164246718	164246718	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:164246718G>C	ENST00000296533.2	-	3	1423	c.892C>G	c.(892-894)Cac>Gac	p.H298D	NPY1R_ENST00000509586.1_Missense_Mutation_p.H55D	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	298					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)			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)				AACAGATTGTGGTTGCAGGTA	0.443																																							uc003iqm.1		NA																	0				lung(1)|pancreas(1)	2						c.(892-894)CAC>GAC		neuropeptide Y receptor Y1							88.0	91.0	90.0					4																	164246718		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246718G>C		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.892C>G	4.37:g.164246718G>C	ENSP00000354652:p.His298Asp					NPY1R_uc011cjj.1_Missense_Mutation_p.H55D	p.H298D	NM_000909	NP_000900	P25929	NPY1R_HUMAN			3	1158	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	298			Extracellular (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.892C>G	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798367	0.70567	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391	T;T;T	0.54479	0.57;0.57;1.24	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69468	-0.5137	10	0.33141	T	0.24	.	19.9311	0.97118	0.0:0.0:1.0:0.0	.	298	P25929	NPY1R_HUMAN	D	298;55;55	ENSP00000354652:H298D;ENSP00000427284:H55D;ENSP00000422963:H55D	ENSP00000354652:H298D	H	-	1	0	NPY1R	164466168	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.563000	0.98148	2.714000	0.92807	0.655000	0.94253	CAC		0.443	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			27	6	0	0	0	0.004656	0	27	6				
TKTL2	84076	broad.mit.edu	37	4	164393480	164393480	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:164393480C>A	ENST00000280605.3	-	1	1567	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	469						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGCACATTCCCTTGGTATTGG	0.468																																							uc003iqp.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1405-1407)AAG>AAT		transketolase-like 2							100.0	106.0	104.0					4																	164393480		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393480C>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1407G>T	4.37:g.164393480C>A	ENSP00000280605:p.Lys469Asn						p.K469N	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1568	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	469					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1407G>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	3.154	-0.173637	0.06421	.	.	ENSG00000151005	ENST00000280605	T	0.41400	1.0	3.93	-2.6	0.06190	Transketolase-like, pyrimidine-binding domain (2);	0.120184	0.53938	D	0.000050	T	0.47544	0.1451	M	0.62209	1.925	0.48830	D	0.999711	D	0.53312	0.959	P	0.58331	0.837	T	0.39961	-0.9588	10	0.46703	T	0.11	-11.4332	7.2859	0.26340	0.0:0.2726:0.1232:0.6041	.	469	Q9H0I9	TKTL2_HUMAN	N	469	ENSP00000280605:K469N	ENSP00000280605:K469N	K	-	3	2	TKTL2	164612930	1.000000	0.71417	0.009000	0.14445	0.347000	0.29111	0.765000	0.26546	-0.936000	0.03723	-1.884000	0.00543	AAG		0.468	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		52	7	1	0	1.34479e-40	0.00361	2.80377e-40	52	7				
CPE	1363	broad.mit.edu	37	4	166300615	166300615	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:166300615G>C	ENST00000402744.4	+	1	522	c.242G>C	c.(241-243)cGc>cCc	p.R81P		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	81					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACGGTGGGGCGCAGCTTCGAG	0.672																																							uc003irg.3		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(241-243)CGC>CCC		carboxypeptidase E preproprotein	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						14.0	14.0	14.0					4																	166300615		2158	4239	6397	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166300615G>C	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.242G>C	4.37:g.166300615G>C	ENSP00000386104:p.Arg81Pro						p.R81P	NM_001873	NP_001864	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	1	519	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	81					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.242G>C	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233510	0.79688	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.11821	2.74	4.1	4.1	0.47936	Peptidase M14, carboxypeptidase A (2);	0.106338	0.64402	D	0.000004	T	0.20251	0.0487	M	0.78049	2.395	0.53005	D	0.99996	P	0.42375	0.778	B	0.37346	0.247	T	0.19976	-1.0289	10	0.87932	D	0	-5.6967	16.0897	0.81084	0.0:0.0:1.0:0.0	.	81	P16870	CBPE_HUMAN	P	81;45	ENSP00000386104:R81P	ENSP00000261510:R45P	R	+	2	0	CPE	166520065	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.538000	0.67193	2.101000	0.63845	0.305000	0.20034	CGC		0.672	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		4	4	0	0	0	0.009096	0	4	4				
DDX60L	91351	broad.mit.edu	37	4	169312708	169312708	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:169312708C>A	ENST00000511577.1	-	29	4145	c.3898G>T	c.(3898-3900)Gct>Tct	p.A1300S	DDX60L_ENST00000260184.7_Missense_Mutation_p.A1300S|DDX60L_ENST00000505890.1_Missense_Mutation_p.A1301S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1300	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TAATTTAAAGCATCCAGATAG	0.413																																							uc003irq.3		NA																	0				ovary(1)	1						c.(3898-3900)GCT>TCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							74.0	73.0	74.0					4																	169312708		1940	4176	6116	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169312708C>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3898G>T	4.37:g.169312708C>A	ENSP00000422423:p.Ala1300Ser					DDX60L_uc003irr.1_Missense_Mutation_p.A1301S	p.A1300S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	29	4119	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1300			Helicase C-terminal.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.3898G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.96|18.96	3.732771|3.732771	0.69189|0.69189	.|.	.|.	ENSG00000181381|ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890|ENST00000514580	T;T;D|.	0.91577|.	1.08;1.08;-2.87|.	3.61|3.61	3.61|3.61	0.41365|0.41365	Helicase, C-terminal (3);|.	0.000000|.	0.37857|.	U|.	0.001919|.	T|T	0.40222|0.40222	0.1108|0.1108	L|L	0.31845|0.31845	0.965|0.965	0.27030|0.27030	N|N	0.964252|0.964252	P;D|.	0.89917|.	0.783;1.0|.	P;D|.	0.75020|.	0.47;0.985|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|5	0.39692|.	T|.	0.17|.	.|.	14.7946|14.7946	0.69868|0.69868	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1301;1300|.	D6R906;Q5H9U9|.	.;DDX6L_HUMAN|.	S|F	1300;1300;1301|187	ENSP00000260184:A1300S;ENSP00000422423:A1300S;ENSP00000422202:A1301S|.	ENSP00000260184:A1300S|.	A|C	-|-	1|2	0|0	DDX60L|DDX60L	169549283|169549283	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.920000|0.920000	0.55202|0.55202	4.649000|4.649000	0.61433|0.61433	1.527000|1.527000	0.49086|0.49086	0.467000|0.467000	0.42956|0.42956	GCT|TGC		0.413	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		9	0	1	0	1.12685e-05	0.004482	1.28783e-05	9	0				
PALLD	23022	broad.mit.edu	37	4	169589501	169589501	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:169589501G>T	ENST00000505667.1	+	3	1242	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.A234S|PALLD_ENST00000261509.6_Missense_Mutation_p.A357S|PALLD_ENST00000512127.1_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	357	Ig-like C2-type 1.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CACAACATCTGCTGAGGTGTT	0.527									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NA																	0				ovary(1)	1						c.(1069-1071)GCT>TCT		palladin isoform 2							122.0	116.0	118.0					4																	169589501		2203	4300	6503	SO:0001583	missense	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169589501G>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1069G>T	4.37:g.169589501G>T	ENSP00000425556:p.Ala357Ser					PALLD_uc003iru.2_Missense_Mutation_p.A357S|PALLD_uc003irv.2_5'UTR	p.A357S	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	3	1280	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	357			Ig-like C2-type 1.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.1069G>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067254	0.76301	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.91	5.91	0.95273	.	0.000000	0.31897	U	0.006891	D	0.85673	0.5751	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84219	0.0460	10	0.42905	T	0.14	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	357;357	B7ZMM5;B2RTX2	.;.	S	357;357;336;234	ENSP00000261509:A357S;ENSP00000425556:A357S;ENSP00000423063:A336S;ENSP00000328945:A234S	ENSP00000261509:A357S	A	+	1	0	PALLD	169826076	1.000000	0.71417	0.767000	0.31495	0.200000	0.23975	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GCT		0.527	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		37	14	1	0	1.96642e-18	0.006999	3.31775e-18	37	14				
WDR17	116966	broad.mit.edu	37	4	177083325	177083325	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:177083325G>T	ENST00000280190.4	+	22	3078	c.2922G>T	c.(2920-2922)gaG>gaT	p.E974D	WDR17_ENST00000508596.1_Splice_Site_p.E950D|WDR17_ENST00000507824.2_Splice_Site_p.E957D|WDR17_ENST00000393643.2_Splice_Site_p.E950D			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	974										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATAATATTGAGGTACGACATT	0.383																																							uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2920-2922)GAG>GAT		WD repeat domain 17 isoform 1							78.0	74.0	76.0					4																	177083325		2203	4300	6503	SO:0001630	splice_region_variant	116966							g.chr4:177083325G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2922+1G>T	4.37:g.177083325G>T						WDR17_uc003iuk.2_Missense_Mutation_p.E950D|WDR17_uc003ium.3_Missense_Mutation_p.E950D|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.E193D	p.E974D	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	22	3078	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	974					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2922G>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.632|7.632	0.679066|0.679066	0.14907|0.14907	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.58060	.|0.38;0.42;0.36	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.122925	.|0.53938	.|D	.|0.000049	T|T	0.44244|0.44244	0.1284|0.1284	L|L	0.50333|0.50333	1.59|1.59	0.40428|0.40428	D|D	0.979918|0.979918	.|P;P;P	.|0.48911	.|0.839;0.917;0.917	.|B;B;B	.|0.40982	.|0.276;0.278;0.345	T|T	0.36744|0.36744	-0.9735|-0.9735	5|10	.|0.11485	.|T	.|0.65	-21.3576|-21.3576	13.1031|13.1031	0.59231|0.59231	0.0735:0.0:0.9265:0.0|0.0735:0.0:0.9265:0.0	.|.	.|950;950;974	.|E7EP77;E7EQX0;Q8IZU2	.|.;.;WDR17_HUMAN	S|D	217|950;950;974;957	.|ENSP00000422763:E950D;ENSP00000377258:E950D;ENSP00000280190:E974D	.|ENSP00000280190:E974D	A|E	+|+	1|3	0|2	WDR17|WDR17	177320319|177320319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.443000|0.443000	0.32047|0.32047	6.140000|6.140000	0.71738|0.71738	2.700000|2.700000	0.92200|0.92200	0.650000|0.650000	0.86243|0.86243	GCT|GAG		0.383	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Missense_Mutation	11	3	1	0	9.70103e-10	0.008291	1.27086e-09	11	3				
ACSL1	2180	broad.mit.edu	37	4	185681540	185681540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:185681540G>A	ENST00000515030.1	-	18	2078	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*	ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Q414*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Q585*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Q551*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Q585*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Q414*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Q585*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	585					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACAAACACCTGAGCAACAGGC	0.448																																							uc003iww.2		NA																	0				ovary(2)	2						c.(1753-1755)CAG>TAG		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						249.0	262.0	258.0					4																	185681540		2203	4300	6503	SO:0001587	stop_gained	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185681540G>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1753C>T	4.37:g.185681540G>A	ENSP00000422607:p.Gln585*					ACSL1_uc011ckm.1_Nonsense_Mutation_p.Q414*|ACSL1_uc003iwt.1_Nonsense_Mutation_p.Q585*|ACSL1_uc003iwu.1_Nonsense_Mutation_p.Q585*|ACSL1_uc011ckn.1_Nonsense_Mutation_p.Q551*|ACSL1_uc003iws.1_Nonsense_Mutation_p.Q145*	p.Q585*	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	18	2047	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	585			Cytoplasmic (Potential).		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	ENST00000515030.1	37	c.1753C>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	G	39	7.667045	0.98422	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	5.55	5.55	0.83447	.	0.157774	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.2046	19.5066	0.95118	0.0:0.0:1.0:0.0	.	.	.	.	X	414;585;181;585;551;414;585;585	.	ENSP00000281455:Q585X	Q	-	1	0	ACSL1	185918534	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	9.653000	0.98506	2.612000	0.88384	0.655000	0.94253	CAG		0.448	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		160	35	0	0	0	0.00361	0	160	35				
FAT1	2195	broad.mit.edu	37	4	187518259	187518259	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:187518259C>A	ENST00000441802.2	-	25	12644	c.12435G>T	c.(12433-12435)acG>acT	p.T4145T	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4145	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGAGCCGTGCGTGTTCTCAC	0.582										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(12433-12435)ACG>ACT		FAT tumor suppressor 1 precursor							49.0	52.0	51.0					4																	187518259		2109	4227	6336	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187518259C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12435G>T	4.37:g.187518259C>A		HNSCC(5;0.00058)				FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Silent_p.T36T	p.T4145T	NM_005245	NP_005236	Q14517	FAT1_HUMAN			25	12623	-			4145			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).			Silent	SNP	ENST00000441802.2	37	c.12435G>T	CCDS47177.1																																																																																				0.582	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		17	4	1	0	2.48551e-13	0.00499	3.66014e-13	17	4				
FRG1	2483	broad.mit.edu	37	4	190876296	190876296	+	Missense_Mutation	SNP	T	T	A	rs368294191		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:190876296T>A	ENST00000226798.4	+	5	644	c.422T>A	c.(421-423)gTc>gAc	p.V141D	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	141					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGGAACCAGTCTTTCAAAAT	0.343																																							uc003izs.2		NA																	0					0						c.(421-423)GTC>GAC		FSHD region gene 1							82.0	82.0	82.0					4																	190876296		2203	4297	6500	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876296T>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.422T>A	4.37:g.190876296T>A	ENSP00000226798:p.Val141Asp						p.V141D	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	613	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	141					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.422T>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.155260	0.78114	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.54675	1.86;0.56	4.04	4.04	0.47022	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.79217	-0.1894	10	0.87932	D	0	-7.9105	11.3071	0.49342	0.0:0.0:0.0:1.0	.	141	Q14331	FRG1_HUMAN	D	141;78	ENSP00000226798:V141D;ENSP00000435943:V78D	ENSP00000226798:V141D	V	+	2	0	FRG1	191113290	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.497000	0.81536	1.599000	0.50093	0.462000	0.41574	GTC		0.343	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	64	0	0	0	0.006214	0	7	64				
FRG1	2483	broad.mit.edu	37	4	190882991	190882991	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:190882991G>T	ENST00000226798.4	+	8	866	c.644G>T	c.(643-645)aGc>aTc	p.S215I		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	215					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S215N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAATTTCAGAGCTTCCAAGAC	0.294																																							uc003izs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(643-645)AGC>ATC		FSHD region gene 1							59.0	73.0	69.0					4																	190882991		2090	4177	6267	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190882991G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.644G>T	4.37:g.190882991G>T	ENSP00000226798:p.Ser215Ile						p.S215I	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	8	835	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	215					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.644G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	19.47	3.834557	0.71373	.	.	ENSG00000109536	ENST00000226798;ENST00000524583	T	0.33654	1.4	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.63093	-0.6714	10	0.54805	T	0.06	-7.8663	13.8031	0.63214	0.0:0.0:1.0:0.0	.	215	Q14331	FRG1_HUMAN	I	215;87	ENSP00000226798:S215I	ENSP00000226798:S215I	S	+	2	0	FRG1	191119985	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.209000	0.95087	1.891000	0.54761	0.479000	0.44913	AGC		0.294	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		69	15	1	0	2.42712e-22	0.00361	4.39164e-22	69	15				
SLC6A18	348932	broad.mit.edu	37	5	1232936	1232936	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:1232936G>T	ENST00000324642.3	+	3	495	c.372G>T	c.(370-372)tgG>tgT	p.W124C	SLC6A18_ENST00000296821.4_Missense_Mutation_p.W124C	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	124					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGTGCTGTGGTACCTCCTCA	0.642																																							uc003jby.1		NA																	0				ovary(1)	1						c.(370-372)TGG>TGT		solute carrier family 6, member 18							133.0	105.0	114.0					5																	1232936		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232936G>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.372G>T	5.37:g.1232936G>T	ENSP00000323549:p.Trp124Cys						p.W124C	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	495	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		124			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.372G>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125625	0.77436	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.74209	-0.82;-0.82	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83390	0.5244	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85266	0.1053	10	0.87932	D	0	.	18.0534	0.89356	0.0:0.0:1.0:0.0	.	124	Q96N87	S6A18_HUMAN	C	124	ENSP00000323549:W124C;ENSP00000296821:W124C	ENSP00000296821:W124C	W	+	3	0	SLC6A18	1285936	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.171000	0.77595	2.349000	0.79799	0.511000	0.50034	TGG		0.642	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		23	27	1	0	6.21321e-17	0.00278	1.00885e-16	23	27				
C5orf38	153571	broad.mit.edu	37	5	2752838	2752838	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:2752838G>T	ENST00000334000.3	+	2	420	c.303G>T	c.(301-303)agG>agT	p.R101S	C5orf38_ENST00000505778.1_Missense_Mutation_p.R101S|C5orf38_ENST00000515640.1_Missense_Mutation_p.R101S|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000457752.2_Intron|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000397835.4_Missense_Mutation_p.R101S|IRX2_ENST00000302057.5_5'Flank	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	101						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		AGGAGCTCAGGTTGGCGCCGC	0.627																																							uc003jdc.2		NA																	0					0						c.(301-303)AGG>AGT		hypothetical protein LOC153571 precursor							53.0	59.0	57.0					5																	2752838		2203	4300	6503	SO:0001583	missense	153571					extracellular region		g.chr5:2752838G>T	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.303G>T	5.37:g.2752838G>T	ENSP00000334267:p.Arg101Ser					C5orf38_uc011cmg.1_Missense_Mutation_p.R101S|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_Intron	p.R101S	NM_178569	NP_848664	Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	2	420	+			101						Missense_Mutation	SNP	ENST00000334000.3	37	c.303G>T	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322078	0.23994	.	.	ENSG00000186493	ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.38	1.49	0.22878	.	.	.	.	.	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.20107	-1.0285	8	0.87932	D	0	.	6.7724	0.23601	0.0:0.4783:0.5217:0.0	.	101	Q86SI9	CEI_HUMAN	S	101	.	ENSP00000334267:R101S	R	+	3	2	C5orf38	2805838	0.001000	0.12720	0.003000	0.11579	0.042000	0.13812	0.576000	0.23744	0.542000	0.28846	0.313000	0.20887	AGG		0.627	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		18	45	1	0	9.16793e-09	0.00499	1.15737e-08	18	45				
IRX1	79192	broad.mit.edu	37	5	3599475	3599475	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:3599475G>T	ENST00000302006.3	+	2	465	c.413G>T	c.(412-414)aGc>aTc	p.S138I	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	138				S -> N (in Ref. 2; AAB50005). {ECO:0000305}.	proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACCCGCGAGAGCACCAGCACG	0.647																																							uc003jde.2		NA																	0				ovary(1)|pancreas(1)	2						c.(412-414)AGC>ATC		iroquois homeobox protein 1							105.0	88.0	94.0					5																	3599475		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599475G>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.413G>T	5.37:g.3599475G>T	ENSP00000305244:p.Ser138Ile						p.S138I	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	465	+			138	S -> N (in Ref. 2; AAB50005).		Homeobox; TALE-type.		Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.413G>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594144	0.66219	.	.	ENSG00000170549	ENST00000302006	D	0.83837	-1.77	4.51	4.51	0.55191	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.081187	0.85682	D	0.000000	T	0.80722	0.4677	L	0.35542	1.07	0.80722	D	1	P	0.39391	0.671	B	0.44163	0.443	D	0.83921	0.0301	10	0.87932	D	0	.	17.2114	0.86931	0.0:0.0:1.0:0.0	.	138	P78414	IRX1_HUMAN	I	138	ENSP00000305244:S138I	ENSP00000305244:S138I	S	+	2	0	IRX1	3652475	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	6.353000	0.73032	2.173000	0.68751	0.655000	0.94253	AGC		0.647	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		19	32	1	0	1.01871e-10	0.008871	1.38951e-10	19	32				
NSUN2	54888	broad.mit.edu	37	5	6625754	6625754	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:6625754T>C	ENST00000264670.6	-	4	699	c.388A>G	c.(388-390)Aat>Gat	p.N130D	NSUN2_ENST00000506139.1_Missense_Mutation_p.N95D|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000505264.1_5'Flank	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	130					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CGACTTAAATTTGTGTGCCAG	0.343																																							uc003jdu.2		NA																	0				ovary(1)	1						c.(388-390)AAT>GAT		NOL1/NOP2/Sun domain family, member 2							93.0	92.0	93.0					5																	6625754		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6625754T>C	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.388A>G	5.37:g.6625754T>C	ENSP00000264670:p.Asn130Asp					NSUN2_uc011cmk.1_Missense_Mutation_p.N95D|NSUN2_uc003jdv.2_5'UTR	p.N130D	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			4	453	-			130					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.388A>G	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088222	0.55968	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.36520	1.25;1.25	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	N	0.10685	0.025	0.80722	D	1	P;B	0.36768	0.569;0.02	B;B	0.35770	0.21;0.05	T	0.08973	-1.0696	10	0.11485	T	0.65	-42.9967	15.1612	0.72788	0.0:0.0:0.0:1.0	.	95;130	B4DQW2;Q08J23	.;NSUN2_HUMAN	D	130;95	ENSP00000264670:N130D;ENSP00000420957:N95D	ENSP00000264670:N130D	N	-	1	0	NSUN2	6678754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.164000	0.77533	2.040000	0.60383	0.383000	0.25322	AAT		0.343	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		13	17	0	0	0	0.001855	0	13	17				
SRD5A1	6715	broad.mit.edu	37	5	6633888	6633888	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:6633888C>G	ENST00000274192.5	+	1	433	c.199C>G	c.(199-201)Ccg>Gcg	p.P67A	NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.C75W|NSUN2_ENST00000264670.6_5'Flank|NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.C75W	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	67				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	GCTGGCCCTGCCGCTCTACCA	0.711																																							uc003jdw.2		NA																	0					0						c.(199-201)CCG>GCG		steroid-5-alpha-reductase 1	Dutasteride(DB01126)|Finasteride(DB01216)						15.0	16.0	15.0					5																	6633888		2163	4229	6392	SO:0001583	missense	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6633888C>G	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.199C>G	5.37:g.6633888C>G	ENSP00000274192:p.Pro67Ala					NSUN2_uc003jdu.2_5'Flank|NSUN2_uc011cmk.1_5'Flank|NSUN2_uc003jdv.2_5'Flank|SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.C75W	p.P67A	NM_001047	NP_001038	P18405	S5A1_HUMAN			1	389	+			67	Missing (in Ref. 4; AAF14869).				B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	c.199C>G	CCDS3870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.59|18.59	3.656065|3.656065	0.67586|0.67586	.|.	.|.	ENSG00000145545|ENSG00000145545	ENST00000537411;ENST00000538824|ENST00000274192	T|T	0.24538|0.23348	1.85|1.91	3.6|3.6	3.6|3.6	0.41247|0.41247	.|.	.|0.059678	.|0.64402	.|D	.|0.000002	T|T	0.39809|0.39809	0.1092|0.1092	M|M	0.85197|0.85197	2.74|2.74	0.53005|0.53005	D|D	0.999969|0.999969	D|B	0.69078|0.21309	0.997|0.054	D|B	0.68039|0.37601	0.955|0.254	T|T	0.37150|0.37150	-0.9718|-0.9718	9|10	0.87932|0.31617	D|T	0|0.26	-11.7956|-11.7956	12.6006|12.6006	0.56494|0.56494	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	75|67	F5GXK9|P18405	.|S5A1_HUMAN	W|A	75|67	ENSP00000440186:C75W|ENSP00000274192:P67A	ENSP00000446275:C75W|ENSP00000274192:P67A	C|P	+|+	3|1	2|0	SRD5A1|SRD5A1	6686888|6686888	0.890000|0.890000	0.30428|0.30428	0.995000|0.995000	0.50966|0.50966	0.914000|0.914000	0.54420|0.54420	2.525000|2.525000	0.45598|0.45598	2.005000|2.005000	0.58758|0.58758	0.643000|0.643000	0.83706|0.83706	TGC|CCG		0.711	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		6	13	0	0	0	0.001168	0	6	13				
ADCY2	108	broad.mit.edu	37	5	7766897	7766897	+	Missense_Mutation	SNP	C	C	A	rs369487048		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:7766897C>A	ENST00000338316.4	+	17	2281	c.2192C>A	c.(2191-2193)gCg>gAg	p.A731E	ADCY2_ENST00000537121.1_Missense_Mutation_p.A551E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	731					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.A731V(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATTCTGCGTGCGCAGAATTTA	0.428																																							uc003jdz.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2191-2193)GCG>GAG		adenylate cyclase 2							172.0	176.0	175.0					5																	7766897		2203	4300	6503	SO:0001583	missense	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7766897C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2192C>A	5.37:g.7766897C>A	ENSP00000342952:p.Ala731Glu					ADCY2_uc011cmo.1_Missense_Mutation_p.A551E	p.A731E	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			17	2259	+			731					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2192C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907250	0.33628	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.81499	-1.01;-1.5	5.46	4.59	0.56863	.	0.640370	0.16412	N	0.215526	T	0.72053	0.3413	L	0.44542	1.39	0.29859	N	0.827837	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62765	-0.6785	10	0.25751	T	0.34	.	10.6427	0.45602	0.0:0.9112:0.0:0.0888	.	551;731	B7Z2C1;Q08462	.;ADCY2_HUMAN	E	731;564;551	ENSP00000342952:A731E;ENSP00000444803:A551E	ENSP00000342952:A731E	A	+	2	0	ADCY2	7819897	0.976000	0.34144	0.882000	0.34594	0.759000	0.43091	2.336000	0.43938	2.559000	0.86315	0.655000	0.94253	GCG		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		31	40	1	0	1.36615e-20	0.002836	2.40172e-20	31	40				
ADCY2	108	broad.mit.edu	37	5	7766902	7766902	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:7766902A>G	ENST00000338316.4	+	17	2286	c.2197A>G	c.(2197-2199)Aat>Gat	p.N733D	ADCY2_ENST00000537121.1_Missense_Mutation_p.N553D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	733					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCGTGCGCAGAATTTATTTTT	0.428																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2197-2199)AAT>GAT		adenylate cyclase 2							177.0	182.0	181.0					5																	7766902		2203	4300	6503	SO:0001583	missense	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7766902A>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2197A>G	5.37:g.7766902A>G	ENSP00000342952:p.Asn733Asp					ADCY2_uc011cmo.1_Missense_Mutation_p.N553D	p.N733D	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			17	2264	+			733					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2197A>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	14.59	2.582256	0.46006	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.81499	-1.02;-1.5	5.46	4.31	0.51392	.	0.307880	0.38272	N	0.001741	T	0.72645	0.3486	L	0.56769	1.78	0.09310	N	1	B;B	0.15930	0.001;0.015	B;B	0.15870	0.002;0.014	T	0.55147	-0.8186	10	0.12103	T	0.63	.	8.6653	0.34116	0.9133:0.0:0.0867:0.0	.	553;733	B7Z2C1;Q08462	.;ADCY2_HUMAN	D	733;566;553	ENSP00000342952:N733D;ENSP00000444803:N553D	ENSP00000342952:N733D	N	+	1	0	ADCY2	7819902	0.400000	0.25295	0.002000	0.10522	0.814000	0.46013	3.018000	0.49625	0.923000	0.37045	0.533000	0.62120	AAT		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		33	45	0	0	0	0.003755	0	33	45				
SEMA5A	9037	broad.mit.edu	37	5	9044566	9044566	+	Silent	SNP	G	G	T	rs368954618		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:9044566G>T	ENST00000382496.5	-	22	3689	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1008					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGGTGAGACGGGGTGGATGA	0.532																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3022-3024)CCC>CCA		semaphorin 5A precursor							166.0	139.0	148.0					5																	9044566		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9044566G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3024C>A	5.37:g.9044566G>T							p.P1008P	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			22	3736	-			1008			Cytoplasmic (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.3024C>A	CCDS3875.1																																																																																				0.532	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			23	57	1	0	1.10513e-12	0.002299	1.60419e-12	23	57				
TAS2R1	50834	broad.mit.edu	37	5	9629330	9629330	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:9629330C>T	ENST00000382492.2	-	1	1133	c.815G>A	c.(814-816)gGa>gAa	p.G272E	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	272					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)			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						GAGAGAGTGTCCAGAAGGGTA	0.373																																							uc003jem.1		NA																	0				ovary(3)	3						c.(814-816)GGA>GAA		taste receptor T2R1							94.0	98.0	96.0					5																	9629330		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629330C>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.815G>A	5.37:g.9629330C>T	ENSP00000371932:p.Gly272Glu						p.G272E	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	1134	-			272			Helical; Name=7; (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.815G>A	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973741	0.34848	.	.	ENSG00000169777	ENST00000382492	T	0.37058	1.22	5.55	-3.49	0.04724	.	1.922750	0.02985	N	0.146128	T	0.61009	0.2313	M	0.82517	2.595	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.60352	-0.7280	9	.	.	.	.	10.1581	0.42836	0.4449:0.1697:0.3854:0.0	.	272	Q9NYW7	TA2R1_HUMAN	E	272	ENSP00000371932:G272E	.	G	-	2	0	TAS2R1	9682330	0.000000	0.05858	0.010000	0.14722	0.362000	0.29581	-0.669000	0.05262	-0.458000	0.07023	-0.868000	0.02995	GGA		0.373	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			21	38	0	0	0	0.010504	0	21	38				
CTNND2	1501	broad.mit.edu	37	5	11082812	11082812	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:11082812G>C	ENST00000304623.8	-	16	2973	c.2784C>G	c.(2782-2784)ctC>ctG	p.L928L	CTNND2_ENST00000359640.2_Silent_p.L870L|CTNND2_ENST00000511377.1_Silent_p.L837L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.L591L|CTNND2_ENST00000458100.2_Silent_p.L495L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	928					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)				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						ACATACCGATGAGCTCCTTAT	0.507																																							uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2782-2784)CTC>CTG		catenin (cadherin-associated protein), delta 2							134.0	117.0	123.0					5																	11082812		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.chr5:11082812G>C	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.2784C>G	5.37:g.11082812G>C						CTNND2_uc010itt.2_Silent_p.L837L|CTNND2_uc011cmy.1_Silent_p.L591L|CTNND2_uc011cmz.1_Silent_p.L495L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L520L	p.L928L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			16	2929	-			928					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2784C>G	CCDS3881.1																																																																																				0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		33	54	0	0	0	0.005524	0	33	54				
CTNND2	1501	broad.mit.edu	37	5	11159798	11159798	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:11159798G>T	ENST00000304623.8	-	12	2238	c.2049C>A	c.(2047-2049)acC>acA	p.T683T	CTNND2_ENST00000359640.2_Silent_p.T683T|CTNND2_ENST00000511377.1_Silent_p.T592T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.T346T|CTNND2_ENST00000458100.2_Silent_p.T250T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	683					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.T683T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCACCGCGTTGGTCAGTACTG	0.507																																							uc003jfa.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2047-2049)ACC>ACA		catenin (cadherin-associated protein), delta 2							192.0	171.0	178.0					5																	11159798		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.chr5:11159798G>T	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.2049C>A	5.37:g.11159798G>T						CTNND2_uc010itt.2_Silent_p.T592T|CTNND2_uc011cmy.1_Silent_p.T346T|CTNND2_uc011cmz.1_Silent_p.T250T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.T250T	p.T683T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			12	2194	-			683			ARM 5.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2049C>A	CCDS3881.1																																																																																				0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		36	58	1	0	3.33393e-15	0.004878	5.14358e-15	36	58				
GUSBP1	728411	broad.mit.edu	37	5	21491452	21491452	+	RNA	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:21491452C>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										ACCAGATCTCCGTCAAGTGCA	0.532																																							uc010iub.2		NA																	0					0						c.(196-198)TCC>TCT		SubName: Full=Putative uncharacterized protein GUSBL2;																																						728411							g.chr5:21491452C>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491452C>T						GUSBP1_uc011cnn.1_RNA|GUSBP1_uc003jgh.3_Intron	p.S66S	NR_027028						4	278	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	Silent	SNP	ENST00000607545.1	37	c.198C>T																																																																																					0.532	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		6	15	0	0	0	0.001168	0	6	15				
CDH12	1010	broad.mit.edu	37	5	21765109	21765109	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:21765109C>A	ENST00000382254.1	-	12	2579	c.1493G>T	c.(1492-1494)tGt>tTt	p.C498F	CDH12_ENST00000522262.1_Missense_Mutation_p.C458F|CDH12_ENST00000504376.2_Missense_Mutation_p.C498F|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGCATTTTCACACACGGCTGT	0.363										HNSCC(59;0.17)																													uc010iuc.2		NA																	0				ovary(2)	2						c.(1492-1494)TGT>TTT		cadherin 12, type 2 preproprotein							134.0	135.0	135.0					5																	21765109		2203	4299	6502	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21765109C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1493G>T	5.37:g.21765109C>A	ENSP00000371689:p.Cys498Phe	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.C458F|CDH12_uc003jgk.2_Missense_Mutation_p.C498F|uc003jgj.2_Intron	p.C498F	NM_004061	NP_004052	P55289	CAD12_HUMAN			9	1951	-			498			Extracellular (Potential).|Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1493G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512561	0.85389	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.53423	0.62;0.62;0.62	5.46	5.46	0.80206	Cadherin (3);Cadherin-like (1);	0.041966	0.85682	N	0.000000	T	0.80752	0.4683	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.997;0.998	D	0.86901	0.2054	10	0.87932	D	0	.	19.6743	0.95924	0.0:1.0:0.0:0.0	.	458;498	B7Z2U6;P55289	.;CAD12_HUMAN	F	498;498;458	ENSP00000423577:C498F;ENSP00000371689:C498F;ENSP00000428786:C458F	ENSP00000371689:C498F	C	-	2	0	CDH12	21800866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.419000	0.80179	2.733000	0.93635	0.637000	0.83480	TGT		0.363	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		29	38	1	0	1.80694e-10	0.009535	2.42973e-10	29	38				
PRDM9	56979	broad.mit.edu	37	5	23526698	23526699	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:23526698_23526699GG>TT	ENST00000296682.3	+	11	1683_1684	c.1501_1502GG>TT	c.(1501-1503)GGc>TTc	p.G501F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	501					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTCCAGAACAGGCCAGAAAGTG	0.455										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1501-1503)GGC>TTC		PR domain containing 9																																				SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526698_23526699GG>TT	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	Exception_encountered	5.37:g.23526698_23526699delinsTT	ENSP00000296682:p.Gly501Phe	HNSCC(3;0.000094)					p.G501F	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1683_1684	+			501					B4DX22|Q27Q50	Missense_Mutation	DNP	ENST00000296682.3	37	c.1501_1502GG>TT	CCDS43307.1																																																																																				0.455	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		17	13	0	0	0	0.004672	0	17	13				
CDH10	1008	broad.mit.edu	37	5	24535880	24535880	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:24535880C>A	ENST00000264463.4	-	4	1085	c.578G>T	c.(577-579)gGg>gTg	p.G193V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGCGCTGTTCCCATATGAAGG	0.463										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(577-579)GGG>GTG		cadherin 10, type 2 preproprotein							134.0	121.0	126.0					5																	24535880		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535880C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.578G>T	5.37:g.24535880C>A	ENSP00000264463:p.Gly193Val	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G193V	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	910	-			193			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.578G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982404	0.93044	.	.	ENSG00000040731	ENST00000264463	T	0.56444	0.46	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86888	0.2046	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	193	Q9Y6N8	CAD10_HUMAN	V	193	ENSP00000264463:G193V	ENSP00000264463:G193V	G	-	2	0	CDH10	24571637	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG		0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		19	21	1	0	6.94344e-10	0.006122	9.1297e-10	19	21				
CDH9	1007	broad.mit.edu	37	5	26881517	26881517	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:26881517T>A	ENST00000231021.4	-	12	2270	c.2098A>T	c.(2098-2100)Ata>Tta	p.I700L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	700					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTCCTCCTTATCTGAAAAATA	0.403																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(2098-2100)ATA>TTA		cadherin 9, type 2 preproprotein							171.0	161.0	164.0					5																	26881517		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881517T>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2098A>T	5.37:g.26881517T>A	ENSP00000231021:p.Ile700Leu					CDH9_uc011cnv.1_Missense_Mutation_p.I293L	p.I700L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2267	-			700			Cytoplasmic (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2098A>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	6.464	0.453717	0.12283	.	.	ENSG00000113100	ENST00000231021	T	0.75938	-0.98	4.96	3.8	0.43715	Cadherin, cytoplasmic domain (1);	0.411162	0.27705	N	0.018188	T	0.61578	0.2358	L	0.36672	1.1	0.40242	D	0.977977	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.53542	-0.8424	9	.	.	.	.	9.5866	0.39521	0.0:0.0843:0.0:0.9157	.	293;700	B4DFP0;Q9ULB4	.;CADH9_HUMAN	L	700	ENSP00000231021:I700L	.	I	-	1	0	CDH9	26917274	0.977000	0.34250	0.997000	0.53966	0.977000	0.68977	1.320000	0.33666	0.844000	0.35094	0.455000	0.32223	ATA		0.403	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		33	65	0	0	0	0.009535	0	33	65				
CDH9	1007	broad.mit.edu	37	5	26885730	26885730	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:26885730T>A	ENST00000231021.4	-	11	2047	c.1875A>T	c.(1873-1875)atA>atT	p.I625I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	625					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TACTAAGCAGTATGAGGACAC	0.473																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1873-1875)ATA>ATT		cadherin 9, type 2 preproprotein							66.0	59.0	62.0					5																	26885730		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885730T>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1875A>T	5.37:g.26885730T>A						CDH9_uc011cnv.1_Silent_p.I218I	p.I625I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	2044	-			625			Helical; (Potential).		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1875A>T	CCDS3893.1																																																																																				0.473	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		11	14	0	0	0	0.008291	0	11	14				
CDH6	1004	broad.mit.edu	37	5	31323360	31323360	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:31323360G>A	ENST00000265071.2	+	12	2583	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	773					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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGGGACCTCGATTCAAAAAG	0.463																																							uc003jhe.1		NA																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(2317-2319)CGA>CAA		cadherin 6, type 2 preproprotein							82.0	74.0	77.0					5																	31323360		2203	4299	6502	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323360G>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2318G>A	5.37:g.31323360G>A	ENSP00000265071:p.Arg773Gln						p.R773Q	NM_004932	NP_004923	P55285	CADH6_HUMAN			12	2644	+			773			Cytoplasmic (Potential).		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.2318G>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550242	0.65311	.	.	ENSG00000113361	ENST00000265071	T	0.80304	-1.36	5.66	5.66	0.87406	Cadherin, cytoplasmic domain (1);	0.103351	0.64402	D	0.000002	T	0.81494	0.4834	M	0.62088	1.915	0.53688	D	0.999974	P	0.38827	0.649	B	0.39094	0.29	T	0.82587	-0.0383	10	0.62326	D	0.03	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	773	P55285	CADH6_HUMAN	Q	773	ENSP00000265071:R773Q	ENSP00000265071:R773Q	R	+	2	0	CDH6	31359117	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	5.564000	0.67359	2.832000	0.97577	0.655000	0.94253	CGA		0.463	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		12	28	0	0	0	0.00245	0	12	28				
DROSHA	29102	broad.mit.edu	37	5	31526703	31526703	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:31526703C>A	ENST00000511367.2	-	4	581	c.337G>T	c.(337-339)Gtt>Ttt	p.V113F	DROSHA_ENST00000344624.3_Missense_Mutation_p.V113F|DROSHA_ENST00000442743.1_Missense_Mutation_p.V113F|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_Missense_Mutation_p.V113F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	113	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CAAGGAGGAACTGGGAAGGGG	0.612																																							uc003jhg.2		NA																	0					0						c.(337-339)GTT>TTT		ribonuclease III, nuclear isoform 1							29.0	32.0	31.0					5																	31526703		1984	4157	6141	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526703C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.337G>T	5.37:g.31526703C>A	ENSP00000425979:p.Val113Phe					RNASEN_uc003jhh.2_Missense_Mutation_p.V113F|RNASEN_uc003jhi.2_Missense_Mutation_p.V113F|RNASEN_uc010iui.1_Missense_Mutation_p.V104F	p.V113F	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			4	696	-			113			Pro-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.337G>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024738	0.54683	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	T;T;T;T;T	0.46819	1.43;1.43;0.87;0.87;0.86	5.41	5.41	0.78517	.	0.207580	0.40385	N	0.001119	T	0.28200	0.0696	N	0.14661	0.345	0.41522	D	0.988408	P;B;B	0.43701	0.815;0.278;0.278	B;B;B	0.37304	0.246;0.06;0.06	T	0.11867	-1.0570	10	0.52906	T	0.07	-16.2994	9.1316	0.36848	0.0:0.7757:0.1481:0.0762	.	113;113;113	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	F	113;113;113;113;106;106;113	ENSP00000425979:V113F;ENSP00000339845:V113F;ENSP00000409335:V113F;ENSP00000424161:V113F;ENSP00000430921:V113F	ENSP00000265075:V106F	V	-	1	0	DROSHA	31562460	0.991000	0.36638	0.940000	0.37924	0.997000	0.91878	2.952000	0.49097	2.535000	0.85469	0.655000	0.94253	GTT		0.612	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		11	23	1	0	6.40141e-05	0.000978	7.11046e-05	11	23				
NPR3	4883	broad.mit.edu	37	5	32780908	32780908	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:32780908G>C	ENST00000265074.8	+	5	1619	c.1276G>C	c.(1276-1278)Gcg>Ccg	p.A426P	NPR3_ENST00000415685.2_Missense_Mutation_p.A210P|NPR3_ENST00000415167.2_Missense_Mutation_p.A426P|NPR3_ENST00000434067.2_Missense_Mutation_p.A210P|AC026703.2_ENST00000607869.1_RNA	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	426					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.A426S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGATGTGGAGGCGGGCACCCA	0.567																																							uc003jhv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1276-1278)GCG>CCG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						150.0	165.0	160.0					5																	32780908		2195	4297	6492	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32780908G>C		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1276G>C	5.37:g.32780908G>C	ENSP00000265074:p.Ala426Pro					NPR3_uc010iuo.2_Missense_Mutation_p.A210P|NPR3_uc011cnz.1_Missense_Mutation_p.A210P|NPR3_uc003jhu.2_Missense_Mutation_p.A426P	p.A426P	NM_000908	NP_000899	P17342	ANPRC_HUMAN			5	1494	+			426			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1276G>C	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.897784	0.52227	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.77489	-0.79;-0.79;-0.79;-1.1;-1.09	5.65	5.65	0.86999	.	0.219324	0.48767	D	0.000174	T	0.71247	0.3317	L	0.54323	1.7	0.45634	D	0.998562	P;P;D;D	0.54772	0.934;0.934;0.968;0.968	B;B;B;B	0.42343	0.31;0.31;0.384;0.384	T	0.69386	-0.5159	10	0.28530	T	0.3	-17.9337	10.5144	0.44881	0.1441:0.0:0.8559:0.0	.	210;210;426;426	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	P	203;210;210;426;426	ENSP00000425325:A203P;ENSP00000388408:A210P;ENSP00000402490:A210P;ENSP00000265074:A426P;ENSP00000398028:A426P	ENSP00000265074:A426P	A	+	1	0	NPR3	32816665	0.999000	0.42202	0.988000	0.46212	0.870000	0.49936	2.128000	0.42045	2.825000	0.97269	0.655000	0.94253	GCG		0.567	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		49	90	0	0	0	0.00361	0	49	90				
NPR3	4883	broad.mit.edu	37	5	32784940	32784940	+	Missense_Mutation	SNP	G	G	T	rs542365419		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:32784940G>T	ENST00000265074.8	+	7	1808	c.1465G>T	c.(1465-1467)Gtg>Ttg	p.V489L	NPR3_ENST00000415685.2_Missense_Mutation_p.V272L|NPR3_ENST00000415167.2_Missense_Mutation_p.V488L|NPR3_ENST00000434067.2_Missense_Mutation_p.V273L	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	489					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGGAATTGTCGTGGGGGCTTT	0.453																																							uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1465-1467)GTG>TTG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						137.0	144.0	142.0					5																	32784940		1885	4116	6001	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32784940G>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1465G>T	5.37:g.32784940G>T	ENSP00000265074:p.Val489Leu					NPR3_uc011cnz.1_Missense_Mutation_p.V272L|NPR3_uc003jhu.2_Missense_Mutation_p.V488L	p.V489L	NM_000908	NP_000899	P17342	ANPRC_HUMAN			7	1683	+			489			Helical; (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1465G>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070374	0.76301	.	.	ENSG00000113389	ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.39	5.39	0.77823	.	0.058046	0.64402	N	0.000002	T	0.54663	0.1872	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.69078	0.983;0.997;0.997	P;D;D	0.76575	0.699;0.988;0.988	T	0.42783	-0.9431	10	0.10111	T	0.7	-19.3266	19.1543	0.93504	0.0:0.0:1.0:0.0	.	272;489;488	E7EPG9;P17342;Q60I31	.;ANPRC_HUMAN;.	L	273;272;489;488	ENSP00000388408:V273L;ENSP00000402490:V272L;ENSP00000265074:V489L;ENSP00000398028:V488L	ENSP00000265074:V489L	V	+	1	0	NPR3	32820697	1.000000	0.71417	0.959000	0.39883	0.430000	0.31655	8.752000	0.91632	2.542000	0.85734	0.484000	0.47621	GTG		0.453	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		19	34	1	0	2.89027e-11	0.002299	4.02321e-11	19	34				
RANBP3L	202151	broad.mit.edu	37	5	36257164	36257164	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:36257164G>T	ENST00000296604.3	-	10	1267	c.782C>A	c.(781-783)tCt>tAt	p.S261Y	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S286Y|RANBP3L_ENST00000515759.1_Missense_Mutation_p.S261Y	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	261					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ATTTTTAATAGAGTCTGTTCC	0.373																																							uc003jkh.2		NA																	0				ovary(1)	1						c.(781-783)TCT>TAT		RAN binding protein 3-like isoform 2							63.0	61.0	61.0					5																	36257164		2203	4300	6503	SO:0001583	missense	202151				intracellular transport			g.chr5:36257164G>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.782C>A	5.37:g.36257164G>T	ENSP00000296604:p.Ser261Tyr					RANBP3L_uc011cow.1_Missense_Mutation_p.S286Y	p.S261Y	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		10	1275	-	all_lung(31;4.52e-05)		261					B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.782C>A	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194335	0.38806	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759	T;T;T	0.25414	1.81;1.8;1.82	5.41	4.54	0.55810	.	0.738656	0.12635	N	0.451867	T	0.17746	0.0426	L	0.56769	1.78	0.09310	N	1	B;P	0.45902	0.181;0.868	B;B	0.34038	0.08;0.174	T	0.11372	-1.0590	10	0.02654	T	1	-0.0861	8.7842	0.34809	0.173:0.0:0.827:0.0	.	286;261	E9PGP9;Q86VV4	.;RNB3L_HUMAN	Y	261;286;261	ENSP00000296604:S261Y;ENSP00000421853:S286Y;ENSP00000421149:S261Y	ENSP00000296604:S261Y	S	-	2	0	RANBP3L	36292921	0.081000	0.21417	0.009000	0.14445	0.389000	0.30415	1.267000	0.33050	1.421000	0.47157	0.591000	0.81541	TCT		0.373	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		14	21	1	0	0.000308642	0.003163	0.000333212	14	21				
C7	730	broad.mit.edu	37	5	40979941	40979941	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:40979941G>T	ENST00000313164.9	+	17	2639	c.2280G>T	c.(2278-2280)agG>agT	p.R760S	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	760	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TTACTGGTAGGGACAGCTGTA	0.468																																							uc003jmh.2		NA																	0					0						c.(2278-2280)AGG>AGT		complement component 7 precursor							70.0	71.0	70.0					5																	40979941		1978	4159	6137	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979941G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2280G>T	5.37:g.40979941G>T	ENSP00000322061:p.Arg760Ser					C7_uc011cpn.1_RNA	p.R760S	NM_000587	NP_000578	P10643	CO7_HUMAN			17	2394	+		Ovarian(839;0.0112)	760			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2280G>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710949	0.30322	.	.	ENSG00000112936	ENST00000313164	T	0.63096	-0.02	5.8	-5.65	0.02459	Factor I / membrane attack complex (1);	1.109950	0.06523	N	0.740076	T	0.31071	0.0785	N	0.10733	0.035	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.21655	-1.0239	10	0.10111	T	0.7	0.0075	4.7659	0.13132	0.5041:0.2741:0.1385:0.0832	.	760	P10643	CO7_HUMAN	S	760	ENSP00000322061:R760S	ENSP00000322061:R760S	R	+	3	2	C7	41015698	0.000000	0.05858	0.004000	0.12327	0.779000	0.44077	-0.800000	0.04555	-0.682000	0.05197	-0.253000	0.11424	AGG		0.468	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			11	16	1	0	9.70103e-10	0.008291	1.27086e-09	11	16				
CCL28	56477	broad.mit.edu	37	5	43381982	43381982	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:43381982C>A	ENST00000361115.4	-	3	438	c.364G>T	c.(364-366)Ggc>Tgc	p.G122C	CCL28_ENST00000513525.1_Missense_Mutation_p.G75C	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	122					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)	p.G122S(1)		kidney(3)|lung(3)|ovary(1)	7						GTTTTATGGCCGTATGTTTCG	0.413																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	Esophageal Squamous(178;1549 1997 2043 22794 27051)	uc003jnu.2		NA																	1	Substitution - Missense(1)	p.G122S(1)	ovary(1)	ovary(1)|kidney(1)	2						c.(364-366)GGC>TGC		chemokine (C-C motif) ligand 28 precursor							291.0	264.0	273.0					5																	43381982		2203	4300	6503	SO:0001583	missense	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43381982C>A	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.364G>T	5.37:g.43381982C>A	ENSP00000354416:p.Gly122Cys					CCL28_uc003jns.2_RNA|CCL28_uc003jnt.2_RNA|CCL28_uc010ivn.2_Missense_Mutation_p.G75C	p.G122C	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN			3	434	-			122					D7RIE7	Missense_Mutation	SNP	ENST00000361115.4	37	c.364G>T	CCDS3944.1	.	.	.	.	.	.	.	.	.	.	C	8.901	0.956462	0.18507	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.48522	1.31;0.81	4.99	2.2	0.27929	.	1.281610	0.05413	N	0.542883	T	0.49695	0.1572	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	P	0.62435	0.902	T	0.41963	-0.9479	10	0.36615	T	0.2	-0.5687	7.5798	0.27959	0.0:0.7291:0.0:0.2709	.	122	Q9NRJ3	CCL28_HUMAN	C	122;75	ENSP00000354416:G122C;ENSP00000422369:G75C	ENSP00000354416:G122C	G	-	1	0	CCL28	43417739	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.126000	0.10563	0.359000	0.24239	-0.145000	0.13849	GGC		0.413	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		46	87	1	0	6.9144e-35	0.00361	1.41062e-34	46	87				
CCL28	56477	broad.mit.edu	37	5	43388480	43388480	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:43388480C>G	ENST00000361115.4	-	2	237	c.163G>C	c.(163-165)Gat>Cat	p.D55H	CCL28_ENST00000513525.1_Missense_Mutation_p.D8H|CCL28_ENST00000537013.1_Missense_Mutation_p.D55H	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	55					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						CAATCCCCATCAGCTCTCTGG	0.498																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	Esophageal Squamous(178;1549 1997 2043 22794 27051)	uc003jnu.2		NA																	0				ovary(1)|kidney(1)	2						c.(163-165)GAT>CAT		chemokine (C-C motif) ligand 28 precursor							94.0	84.0	88.0					5																	43388480		2203	4300	6503	SO:0001583	missense	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43388480C>G	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.163G>C	5.37:g.43388480C>G	ENSP00000354416:p.Asp55His					CCL28_uc003jns.2_RNA|CCL28_uc003jnt.2_RNA|CCL28_uc010ivn.2_Missense_Mutation_p.D8H	p.D55H	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN			2	233	-			55					D7RIE7	Missense_Mutation	SNP	ENST00000361115.4	37	c.163G>C	CCDS3944.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015993	0.75161	.	.	ENSG00000151882	ENST00000361115;ENST00000513525;ENST00000537013	T;T;T	0.54866	3.43;3.43;0.55	4.93	4.93	0.64822	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.109140	0.40385	N	0.001113	T	0.71099	0.3300	M	0.74881	2.28	0.38271	D	0.942151	D	0.89917	1.0	D	0.97110	1.0	T	0.76484	-0.2942	10	0.72032	D	0.01	-19.0066	13.5223	0.61574	0.0:1.0:0.0:0.0	.	55	Q9NRJ3	CCL28_HUMAN	H	55;8;55	ENSP00000354416:D55H;ENSP00000422369:D8H;ENSP00000443823:D55H	ENSP00000354416:D55H	D	-	1	0	CCL28	43424237	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	3.868000	0.56055	2.575000	0.86900	0.591000	0.81541	GAT		0.498	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		16	21	0	0	0	0.006122	0	16	21				
HCN1	348980	broad.mit.edu	37	5	45262443	45262443	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:45262443C>T	ENST00000303230.4	-	8	2310	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	751	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGCGGGGACGgctgctgtg	0.637																																							uc003jok.2		NA																	0				ovary(1)	1						c.(2251-2253)CCG>CCA		hyperpolarization activated cyclic							47.0	48.0	48.0					5																	45262443		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262443C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2253G>A	5.37:g.45262443C>T							p.P751P	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2278	-			751			Gln-rich.|Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2253G>A	CCDS3952.1																																																																																				0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		17	16	0	0	0	0.006122	0	17	16				
IL6ST	3572	broad.mit.edu	37	5	55252045	55252045	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:55252045C>T	ENST00000381298.2	-	10	1387	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.A359T|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.A359T|IL6ST_ENST00000336909.5_Missense_Mutation_p.A359T|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	359	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTCCATTGGCTTCAAAAGGA	0.279			O		hepatocellular ca																																		uc003jqq.2		NA		Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				large_intestine(1)|ovary(1)	2						c.(1075-1077)GCC>ACC		interleukin 6 signal transducer isoform 1							110.0	106.0	108.0					5																	55252045		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55252045C>T	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1075G>A	5.37:g.55252045C>T	ENSP00000370698:p.Ala359Thr					IL6ST_uc010iwb.2_Missense_Mutation_p.A359T|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.A70T|IL6ST_uc003jqr.2_3'UTR	p.A359T	NM_002184	NP_002175	P40189	IL6RB_HUMAN			10	1330	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	359			Extracellular (Potential).|Fibronectin type-III 3.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1075G>A	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034827	0.54896	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.42131	0.98;0.98;0.98	5.75	4.88	0.63580	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.364495	0.31624	N	0.007338	T	0.48589	0.1508	M	0.84326	2.69	0.80722	D	1	B;B;B	0.23128	0.08;0.053;0.047	B;B;B	0.21917	0.024;0.037;0.016	T	0.51849	-0.8653	10	0.56958	D	0.05	.	13.7085	0.62654	0.0:0.9277:0.0:0.0723	.	359;359;359	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	T	359	ENSP00000370698:A359T;ENSP00000338799:A359T;ENSP00000370694:A359T	ENSP00000338799:A359T	A	-	1	0	IL6ST	55287802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.968000	0.49224	1.537000	0.49254	0.650000	0.86243	GCC		0.279	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		14	4	0	0	0	0.00245	0	14	4				
F2R	2149	broad.mit.edu	37	5	76028811	76028811	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:76028811G>A	ENST00000319211.4	+	2	1026	c.761G>A	c.(760-762)tGt>tAt	p.C254Y		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	254					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|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)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATCACTACCTGTCATGATGTG	0.527																																							uc003ken.3		NA																	0				ovary(3)	3						c.(760-762)TGT>TAT		coagulation factor II receptor precursor	Streptokinase(DB00086)						124.0	127.0	126.0					5																	76028811		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028811G>A	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.761G>A	5.37:g.76028811G>A	ENSP00000321326:p.Cys254Tyr						p.C254Y	NM_001992	NP_001983	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	1026	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	254			Extracellular (Potential).		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.761G>A	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511607	0.85389	.	.	ENSG00000181104	ENST00000319211	T	0.61980	0.06	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84316	0.5445	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88156	0.2854	10	0.87932	D	0	-28.0913	18.5438	0.91039	0.0:0.0:1.0:0.0	.	254	P25116	PAR1_HUMAN	Y	254	ENSP00000321326:C254Y	ENSP00000321326:C254Y	C	+	2	0	F2R	76064567	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	9.463000	0.97652	2.676000	0.91093	0.561000	0.74099	TGT		0.527	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			31	10	0	0	0	0.008361	0	31	10				
CRHBP	1393	broad.mit.edu	37	5	76251618	76251618	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:76251618G>T	ENST00000274368.4	+	4	896	c.474G>T	c.(472-474)atG>atT	p.M158I	CRHBP_ENST00000506501.1_Missense_Mutation_p.M158I	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	158					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		ATGTGGCCATGATCTTCTTCC	0.473																																							uc003ker.2		NA																	0					0						c.(472-474)ATG>ATT		corticotropin releasing hormone binding protein							124.0	108.0	113.0					5																	76251618		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76251618G>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.474G>T	5.37:g.76251618G>T	ENSP00000274368:p.Met158Ile					CRHBP_uc010izx.2_Missense_Mutation_p.M158I	p.M158I	NM_001882	NP_001873	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	4	754	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	158					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.474G>T	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676807	0.88445	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	T;T	0.59083	0.29;0.29	4.62	4.62	0.57501	CUB (1);	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.78801	2.425	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	T	0.80358	-0.1416	10	0.66056	D	0.02	-0.8619	17.6527	0.88169	0.0:0.0:1.0:0.0	.	158;158	D6RHH7;P24387	.;CRHBP_HUMAN	I	158	ENSP00000274368:M158I;ENSP00000426097:M158I	ENSP00000274368:M158I	M	+	3	0	CRHBP	76287374	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.166000	0.94766	2.388000	0.81334	0.655000	0.94253	ATG		0.473	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		21	8	1	0	6.33239e-15	0.010504	9.67523e-15	21	8				
VCAN	1462	broad.mit.edu	37	5	82786165	82786165	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:82786165C>G	ENST00000265077.3	+	3	884	c.319C>G	c.(319-321)Ccc>Gcc	p.P107A	VCAN_ENST00000342785.4_Missense_Mutation_p.P107A|VCAN_ENST00000513984.1_Missense_Mutation_p.P107A|VCAN_ENST00000343200.5_Missense_Mutation_p.P107A|VCAN_ENST00000502527.2_Missense_Mutation_p.P107A|VCAN_ENST00000512590.2_Missense_Mutation_p.P59A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	107	Ig-like V-type.				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)			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)	GCCCACACATCCCGAGGCTGT	0.502																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(319-321)CCC>GCC		versican isoform 1 precursor							144.0	133.0	136.0					5																	82786165		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.chr5:82786165C>G	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.319C>G	5.37:g.82786165C>G	ENSP00000265077:p.Pro107Ala					VCAN_uc003kij.3_Missense_Mutation_p.P107A|VCAN_uc010jau.2_Missense_Mutation_p.P107A|VCAN_uc003kik.3_Missense_Mutation_p.P107A|VCAN_uc003kih.3_Missense_Mutation_p.P107A	p.P107A	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)	3	675	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	107			Ig-like V-type.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.319C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	9.112	1.006755	0.19199	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.78	4.0	0.46444	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.303615	0.28901	N	0.013771	T	0.28699	0.0711	L	0.53780	1.695	0.39255	D	0.9641	B;B;B;B;B	0.27997	0.071;0.068;0.197;0.19;0.005	B;B;B;B;B	0.37304	0.073;0.076;0.09;0.246;0.026	T	0.11324	-1.0592	10	0.54805	T	0.06	.	8.5742	0.33587	0.0:0.6315:0.2367:0.1318	.	107;107;107;107;107	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	A	107;107;107;59;107;107;107	ENSP00000265077:P107A;ENSP00000340062:P107A;ENSP00000342768:P107A;ENSP00000425959:P59A;ENSP00000426251:P107A;ENSP00000426715:P107A;ENSP00000421362:P107A	ENSP00000265077:P107A	P	+	1	0	VCAN	82821921	0.664000	0.27457	0.007000	0.13788	0.014000	0.08584	1.487000	0.35540	0.788000	0.33755	0.655000	0.94253	CCC		0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		24	10	0	0	0	0.00278	0	24	10				
GPR98	84059	broad.mit.edu	37	5	90107048	90107048	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:90107048G>T	ENST00000405460.2	+	74	16067	c.15971G>T	c.(15970-15972)gGg>gTg	p.G5324V	GPR98_ENST00000425867.2_Missense_Mutation_p.G985V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5324	Calx-beta 34. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGCCTGAGGGGCAGGAATTC	0.418																																							uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(15970-15972)GGG>GTG		G protein-coupled receptor 98 precursor							46.0	44.0	45.0					5																	90107048		1889	4123	6012	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90107048G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15971G>T	5.37:g.90107048G>T	ENSP00000384582:p.Gly5324Val					GPR98_uc003kjt.2_Missense_Mutation_p.G3030V|GPR98_uc003kjw.2_Missense_Mutation_p.G985V	p.G5324V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	16067	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5324			Calx-beta 34.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15971G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527224	0.44969	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.32515	1.45;1.45	5.47	4.6	0.57074	Na-Ca exchanger/integrin-beta4 (1);	0.049623	0.85682	D	0.000000	T	0.54549	0.1865	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.988;0.992	T	0.57027	-0.7881	9	.	.	.	.	14.0214	0.64558	0.0725:0.0:0.9275:0.0	.	985;5324;985	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	V	5324;5324;985	ENSP00000384582:G5324V;ENSP00000392618:G985V	.	G	+	2	0	GPR98	90142804	1.000000	0.71417	0.983000	0.44433	0.083000	0.17756	7.514000	0.81750	1.311000	0.45024	0.655000	0.94253	GGG		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	2	1	0	8.12818e-05	0.001984	8.99342e-05	7	2				
FER	2241	broad.mit.edu	37	5	108133938	108133938	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:108133938G>T	ENST00000281092.4	+	3	439	c.55G>T	c.(55-57)Gac>Tac	p.D19Y	FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_5'UTR|FER_ENST00000536402.1_Missense_Mutation_p.D19Y	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	19	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAATTGCAAGACTGGGAATT	0.388																																					Colon(146;1051 1799 9836 27344 47401)	Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NA																	0				lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(55-57)GAC>TAC		fer (fps/fes related) tyrosine kinase							91.0	90.0	91.0					5																	108133938		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108133938G>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.55G>T	5.37:g.108133938G>T	ENSP00000281092:p.Asp19Tyr					FER_uc011cve.1_Intron|FER_uc011cvf.1_RNA|FER_uc003koq.2_Missense_Mutation_p.D19Y|FER_uc011cvg.1_5'UTR	p.D19Y	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	3	439	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	19			Important for interaction with membranes containing phosphoinositides.|FCH.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.55G>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679301	0.68042	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.48522	0.81;0.81	5.15	4.28	0.50868	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72431	-0.4296	10	0.87932	D	0	-13.2537	13.891	0.63738	0.0742:0.0:0.9258:0.0	.	19;19	Q6PEJ9;P16591	.;FER_HUMAN	Y	19	ENSP00000281092:D19Y;ENSP00000442627:D19Y	ENSP00000281092:D19Y	D	+	1	0	FER	108161837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	1.292000	0.44672	0.655000	0.94253	GAC		0.388	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		19	5	1	0	1.56452e-12	0.007413	2.25723e-12	19	5				
FAM170A	340069	broad.mit.edu	37	5	118969798	118969798	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:118969798G>T	ENST00000515256.1	+	3	527	c.355G>T	c.(355-357)Gta>Tta	p.V119L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	119					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTCTCTGTGTGTAAACAAAGA	0.483																																							uc003ksm.2		NA																	0				skin(1)	1						c.(355-357)GTA>TTA		family with sequence similarity 170, member A							102.0	104.0	103.0					5																	118969798		1909	4119	6028	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118969798G>T	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.355G>T	5.37:g.118969798G>T	ENSP00000422684:p.Val119Leu					FAM170A_uc003ksl.2_Missense_Mutation_p.V119L|FAM170A_uc003ksn.2_Missense_Mutation_p.V119L|FAM170A_uc003kso.2_Missense_Mutation_p.V72L	p.V119L	NM_182761	NP_877438	A1A519	F170A_HUMAN			3	565	+			119					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.355G>T		.	.	.	.	.	.	.	.	.	.	G	4.737	0.137101	0.09032	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	T;T	0.29655	1.56;1.56	4.35	-6.11	0.02131	.	1.357770	0.04478	N	0.377371	T	0.23492	0.0568	L	0.43152	1.355	0.09310	N	1	B;B;B	0.21225	0.0;0.019;0.053	B;B;B	0.20955	0.002;0.012;0.032	T	0.23691	-1.0181	9	.	.	.	2.0133	9.1971	0.37235	0.1892:0.0:0.6715:0.1393	.	72;119;119	D6RIE9;A1A519;A2VCN0	.;F170A_HUMAN;.	L	72;119;119	ENSP00000422684:V119L;ENSP00000423697:V119L	.	V	+	1	0	FAM170A	118997697	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.226000	0.09139	-1.150000	0.02840	-0.345000	0.07892	GTA		0.483	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		25	7	1	0	2.39556e-15	0.00278	3.70792e-15	25	7				
FTMT	94033	broad.mit.edu	37	5	121187974	121187974	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:121187974G>T	ENST00000321339.1	+	1	325	c.316G>T	c.(316-318)Gtg>Ttg	p.V106L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	106	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGGGATGACGTGGCCTTGAA	0.592																																							uc003kss.2		NA																	0				ovary(1)	1						c.(316-318)GTG>TTG		ferritin mitochondrial precursor							81.0	66.0	71.0					5																	121187974		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187974G>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.316G>T	5.37:g.121187974G>T	ENSP00000313691:p.Val106Leu						p.V106L	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	325	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	106			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.316G>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683003	0.68157	.	.	ENSG00000181867	ENST00000321339	T	0.70282	-0.47	3.57	3.57	0.40892	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.162290	0.39146	N	0.001448	D	0.85230	0.5649	M	0.90369	3.11	0.42605	D	0.993294	D	0.71674	0.998	D	0.70227	0.968	D	0.88499	0.3081	10	0.72032	D	0.01	.	13.4949	0.61419	0.0:0.0:1.0:0.0	.	106	Q8N4E7	FTMT_HUMAN	L	106	ENSP00000313691:V106L	ENSP00000313691:V106L	V	+	1	0	FTMT	121215873	1.000000	0.71417	0.966000	0.40874	0.965000	0.64279	4.125000	0.57931	2.294000	0.77228	0.655000	0.94253	GTG		0.592	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		17	8	1	0	1.15088e-07	0.004007	1.40192e-07	17	8				
CSNK1G3	1456	broad.mit.edu	37	5	122881511	122881511	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:122881511G>T	ENST00000361991.2	+	1	184	c.154G>T	c.(154-156)Ggc>Tgc	p.G52C	CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G52C|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G52C|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G52C|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.G52C|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G52C|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G52C			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AATTGGATGTGGCAATTTTGG	0.333																																					Pancreas(187;2868 2964 4353 6297)	Pancreas(187;2868 2964 4353 6297)	uc003ktm.2		NA																	0					0						c.(154-156)GGC>TGC		casein kinase 1, gamma 3 isoform 1							98.0	99.0	99.0					5																	122881511		2203	4300	6503	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881511G>T	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.154G>T	5.37:g.122881511G>T	ENSP00000354942:p.Gly52Cys					CSNK1G3_uc003ktl.2_Missense_Mutation_p.G52C|CSNK1G3_uc003ktn.2_Missense_Mutation_p.G52C|CSNK1G3_uc003kto.2_Missense_Mutation_p.G52C|CSNK1G3_uc011cwr.1_Intron|CSNK1G3_uc011cws.1_Intron|CSNK1G3_uc010jda.2_Missense_Mutation_p.G52C	p.G52C	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	873	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	52			Protein kinase.|ATP (By similarity).		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.154G>T	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444713	0.83993	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.99281	0.9749	H	0.99964	5.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.984;0.997;0.989	D	0.98109	1.0419	10	0.87932	D	0	.	19.2408	0.93881	0.0:0.0:1.0:0.0	.	52;52;52;52	A8K040;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;KC1G3_HUMAN;.	C	52	ENSP00000378807:G52C;ENSP00000378806:G52C;ENSP00000334735:G52C;ENSP00000429412:G52C;ENSP00000423838:G52C;ENSP00000354942:G52C;ENSP00000353904:G52C	ENSP00000334735:G52C	G	+	1	0	CSNK1G3	122909410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.176000	0.94839	2.805000	0.96524	0.655000	0.94253	GGC		0.333	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		16	5	1	0	8.28177e-16	0.007413	1.30601e-15	16	5				
FBN2	2201	broad.mit.edu	37	5	127640704	127640704	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:127640704G>A	ENST00000508053.1	-	51	6719	c.5745C>T	c.(5743-5745)taC>taT	p.Y1915Y	FBN2_ENST00000262464.4_Silent_p.Y1915Y			P35556	FBN2_HUMAN	fibrillin 2	1915	EGF-like 31; 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)			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)		AGATGCACTGGTAACTTCCTT	0.448																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5743-5745)TAC>TAT		fibrillin 2 precursor							105.0	87.0	93.0					5																	127640704		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:127640704G>A	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.5745C>T	5.37:g.127640704G>A							p.Y1915Y	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)	45	6184	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1915			EGF-like 31; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.5745C>T	CCDS34222.1																																																																																				0.448	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		13	3	0	0	0	0.001368	0	13	3				
RAD50	10111	broad.mit.edu	37	5	131973867	131973867	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:131973867G>T	ENST00000265335.6	+	23	3957	c.3570G>T	c.(3568-3570)aaG>aaT	p.K1190N	AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.K1051N|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000417516.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1190					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATGCTGAAGGGAGACACAG	0.453								Homologous recombination																															uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(3568-3570)AAG>AAT	Homologous_recombination	RAD50 homolog isoform 1							115.0	106.0	109.0					5																	131973867		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131973867G>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3570G>T	5.37:g.131973867G>T	ENSP00000265335:p.Lys1190Asn					RAD50_uc003kxh.2_Missense_Mutation_p.K1051N	p.K1190N	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		23	3957	+		all_cancers(142;0.0368)|Breast(839;0.198)	1190					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.3570G>T	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.165148|4.165148	0.78339|0.78339	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000455677|ENST00000378823;ENST00000265335	.|T;T	.|0.03607	.|3.87;3.87	5.95|5.95	-1.99|-1.99	0.07457|0.07457	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.06690|0.06690	0.0171|0.0171	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.67231	.|0.95	T|T	0.02411|0.02411	-1.1163|-1.1163	5|10	.|0.87932	.|D	.|0	-22.4333|-22.4333	12.5308|12.5308	0.56113|0.56113	0.6475:0.0:0.3525:0.0|0.6475:0.0:0.3525:0.0	.|.	.|1190	.|Q92878	.|RAD50_HUMAN	W|N	69|1051;1190	.|ENSP00000368100:K1051N;ENSP00000265335:K1190N	.|ENSP00000265335:K1190N	G|K	+|+	1|3	0|2	RAD50|RAD50	132001766|132001766	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.975000|0.975000	0.68041|0.68041	0.792000|0.792000	0.26929|0.26929	-0.270000|-0.270000	0.09285|0.09285	-0.136000|-0.136000	0.14681|0.14681	GGG|AAG		0.453	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		10	3	1	0	0.00829132	0.008291	0.00865604	10	3				
FSTL4	23105	broad.mit.edu	37	5	132552942	132552942	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:132552942G>C	ENST00000265342.7	-	13	1836	c.1587C>G	c.(1585-1587)atC>atG	p.I529M	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	529						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGGGCTTGGATGTCGACCA	0.517																																							uc003kyn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1585-1587)ATC>ATG		follistatin-like 4 precursor							135.0	131.0	132.0					5																	132552942		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132552942G>C	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1587C>G	5.37:g.132552942G>C	ENSP00000265342:p.Ile529Met					FSTL4_uc003kym.1_Missense_Mutation_p.I178M	p.I529M	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1805	-		all_cancers(142;0.244)	529					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.1587C>G	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397632	0.42512	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.31510	1.49	5.22	-10.4	0.00318	WD40/YVTN repeat-like-containing domain (1);	0.296533	0.35585	N	0.003120	T	0.26666	0.0652	L	0.32530	0.975	0.37030	D	0.896624	P;D	0.63880	0.684;0.993	P;P	0.59889	0.453;0.865	T	0.67875	-0.5557	10	0.66056	D	0.02	-4.4828	7.983	0.30194	0.1016:0.3276:0.4922:0.0786	.	529;178	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	M	529;360	ENSP00000265342:I529M	ENSP00000265342:I529M	I	-	3	3	FSTL4	132580841	1.000000	0.71417	0.004000	0.12327	0.748000	0.42578	0.590000	0.23954	-2.628000	0.00436	-0.136000	0.14681	ATC		0.517	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		20	7	0	0	0	0.002299	0	20	7				
NEUROG1	4762	broad.mit.edu	37	5	134870935	134870935	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:134870935C>G	ENST00000314744.4	-	1	704	c.446G>C	c.(445-447)cGc>cCc	p.R149P		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	149					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCGCCAGGCGCAGTGTCTC	0.706																																							uc003lax.2		NA																	0					0						c.(445-447)CGC>CCC		neurogenin 1							29.0	32.0	31.0					5																	134870935		2202	4298	6500	SO:0001583	missense	4762				positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr5:134870935C>G	U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"""Basic helix-loop-helix proteins"""	7764	protein-coding gene	gene with protein product	"""neurogenic differentiation 3"""	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.446G>C	5.37:g.134870935C>G	ENSP00000317580:p.Arg149Pro						p.R149P	NM_006161	NP_006152	Q92886	NGN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	705	-			149					Q5U0Q9|Q96HE1	Missense_Mutation	SNP	ENST00000314744.4	37	c.446G>C	CCDS4187.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320433	0.60634	.	.	ENSG00000181965	ENST00000314744	D	0.88741	-2.42	4.9	4.9	0.64082	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.91202	0.7228	L	0.32530	0.975	0.54753	D	0.999989	D	0.71674	0.998	D	0.68039	0.955	D	0.92549	0.6048	10	0.72032	D	0.01	-22.8177	18.0458	0.89331	0.0:1.0:0.0:0.0	.	149	Q92886	NGN1_HUMAN	P	149	ENSP00000317580:R149P	ENSP00000317580:R149P	R	-	2	0	NEUROG1	134898834	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.549000	0.60726	2.237000	0.73441	0.655000	0.94253	CGC		0.706	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	NM_006161		3	5	0	0	0	0.004672	0	3	5				
NME5	8382	broad.mit.edu	37	5	137465150	137465150	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:137465150T>A	ENST00000265191.2	-	3	186	c.137A>T	c.(136-138)aAa>aTa	p.K46I	NME5_ENST00000508252.1_5'Flank	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	46					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAGGCGTAGTTTTCTTCTCTA	0.338																																							uc003lce.2		NA																	0					0						c.(136-138)AAA>ATA		non-metastatic cells 5, protein expressed in							57.0	55.0	56.0					5																	137465150		2202	4300	6502	SO:0001583	missense	8382				anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding	g.chr5:137465150T>A	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.137A>T	5.37:g.137465150T>A	ENSP00000265191:p.Lys46Ile					BRD8_uc003lcc.1_Intron	p.K46I	NM_003551	NP_003542	P56597	NDK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		3	215	-			46					B2R5G7	Missense_Mutation	SNP	ENST00000265191.2	37	c.137A>T	CCDS4197.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765772	0.49574	.	.	ENSG00000112981	ENST00000265191	T	0.54071	0.59	5.18	5.18	0.71444	.	0.098878	0.64402	D	0.000002	T	0.48259	0.1490	L	0.55481	1.735	0.35492	D	0.799072	B	0.28178	0.202	B	0.27076	0.076	T	0.55829	-0.8079	10	0.23302	T	0.38	.	15.0376	0.71761	0.0:0.0:0.0:1.0	.	46	P56597	NDK5_HUMAN	I	46	ENSP00000265191:K46I	ENSP00000265191:K46I	K	-	2	0	NME5	137493049	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.002000	0.49496	1.944000	0.56390	0.533000	0.62120	AAA		0.338	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551		14	0	0	0	0	0.004007	0	14	0				
PSD2	84249	broad.mit.edu	37	5	139218303	139218303	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:139218303C>G	ENST00000274710.3	+	13	2119	c.1914C>G	c.(1912-1914)tcC>tcG	p.S638S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	638					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCAGCTCCATGAAGAAGT	0.607																																							uc003leu.1		NA																	0				ovary(1)	1						c.(1912-1914)TCC>TCG		pleckstrin and Sec7 domain containing 2							60.0	56.0	57.0					5																	139218303		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139218303C>G	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1914C>G	5.37:g.139218303C>G							p.S638S	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	2119	+			638			Helical; (Potential).		D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.1914C>G	CCDS4216.1																																																																																				0.607	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		13	3	0	0	0	0.001855	0	13	3				
PCDHA6	56142	broad.mit.edu	37	5	140207853	140207853	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140207853G>C	ENST00000529310.1	+	1	291	c.177G>C	c.(175-177)ctG>ctC	p.L59L	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.L59L|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	59	Cadherin 1. {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)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGGAGCTGGTGCCGCGCC	0.627																																							uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(175-177)CTG>CTC		protocadherin alpha 6 isoform 1 precursor							63.0	75.0	71.0					5																	140207853		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207853G>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.177G>C	5.37:g.140207853G>C						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_Silent_p.L59L|PCDHA6_uc011dab.1_Silent_p.L59L	p.L59L	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	204	+			59			Cadherin 1.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.177G>C	CCDS47281.1																																																																																				0.627	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		48	13	0	0	0	0.00361	0	48	13				
PCDHA6	56142	broad.mit.edu	37	5	140209082	140209082	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140209082C>A	ENST00000529310.1	+	1	1520	c.1406C>A	c.(1405-1407)cCg>cAg	p.P469Q	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P469Q|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	469	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)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACAACCCGCCGGGCTGC	0.662																																							uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1405-1407)CCG>CAG		protocadherin alpha 6 isoform 1 precursor							38.0	46.0	43.0					5																	140209082		2203	4293	6496	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209082C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1406C>A	5.37:g.140209082C>A	ENSP00000433378:p.Pro469Gln					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_Missense_Mutation_p.P469Q|PCDHA6_uc011dab.1_Missense_Mutation_p.P469Q	p.P469Q	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1433	+			469			Cadherin 5.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1406C>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239628	0.22711	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.54071	0.59;0.59	3.72	3.72	0.42706	Cadherin (3);Cadherin-like (1);	0.227351	0.21944	U	0.066833	T	0.66607	0.2806	L	0.49350	1.555	0.09310	N	1	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.77557	0.982;0.99;0.987	T	0.60367	-0.7277	10	0.87932	D	0	.	15.6024	0.76634	0.0:1.0:0.0:0.0	.	469;469;469	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	Q	469	ENSP00000433378:P469Q;ENSP00000434113:P469Q	ENSP00000434113:P469Q	P	+	2	0	PCDHA6	140189266	0.000000	0.05858	0.966000	0.40874	0.355000	0.29361	-0.308000	0.08156	2.061000	0.61500	0.313000	0.20887	CCG		0.662	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		26	12	1	0	2.65835e-16	0.007291	4.23906e-16	26	12				
PCDHB3	56132	broad.mit.edu	37	5	140480990	140480990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140480990G>T	ENST00000231130.2	+	1	757	c.757G>T	c.(757-759)Gag>Tag	p.E253*	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	253	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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTTCTAGAGAATACCCC	0.448																																							uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(757-759)GAG>TAG		protocadherin beta 3 precursor							70.0	77.0	74.0					5																	140480990		2203	4300	6503	SO:0001587	stop_gained	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480990G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.757G>T	5.37:g.140480990G>T	ENSP00000231130:p.Glu253*					uc003lin.2_Intron	p.E253*	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	757	+			253			Extracellular (Potential).|Cadherin 3.		B2R8P2	Nonsense_Mutation	SNP	ENST00000231130.2	37	c.757G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972604	0.53614	.	.	ENSG00000113205	ENST00000231130	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1419	0.89642	0.0:0.0:1.0:0.0	.	.	.	.	X	253	.	ENSP00000231130:E253X	E	+	1	0	PCDHB3	140461174	1.000000	0.71417	0.881000	0.34555	0.182000	0.23217	9.788000	0.99064	2.438000	0.82558	0.655000	0.94253	GAG		0.448	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		28	9	1	0	3.69857e-22	0.008361	6.66678e-22	28	9				
PCDHB7	56129	broad.mit.edu	37	5	140554148	140554148	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140554148C>A	ENST00000231137.3	+	1	1906	c.1732C>A	c.(1732-1734)Cgg>Agg	p.R578R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	578	Cadherin 6. {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.R578R(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)			GCCGTTGCCCCGGGCGGCCGA	0.706																																							uc003lit.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1732-1734)CGG>AGG		protocadherin beta 7 precursor							30.0	40.0	36.0					5																	140554148		2138	4213	6351	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554148C>A	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.1732C>A	5.37:g.140554148C>A							p.R578R	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1906	+			578			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1732C>A	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		35	10	1	0	1.56738e-10	0.004289	2.13175e-10	35	10				
Unknown	0	broad.mit.edu	37	5	140568923	140568923	+	IGR	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140568923C>A								PCDHB16 (3130 upstream) : PCDHB10 (3018 downstream)																							GGAGGCGGCCCCGGCCCAGGC	0.692																																							uc003liw.1		NA																	0					0						c.(2032-2034)CCG>ACG		protocadherin beta 9 precursor							61.0	68.0	66.0					5																	140568923		2136	4193	6329	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568923C>A																													5.37:g.140568923C>A							p.P678T	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	2032	+			678			Extracellular (Potential).			Missense_Mutation	SNP		37	c.2032C>A																																																																																				0	0.692									42	12	1	0	9.57592e-29	0.00361	1.87052e-28	42	12				
PCDHB11	56125	broad.mit.edu	37	5	140580953	140580953	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140580953C>A	ENST00000354757.3	+	1	1606	c.1606C>A	c.(1606-1608)Cgc>Agc	p.R536S	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R171S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	536	Cadherin 5. {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)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACCGCGGCTCCCC	0.667																																							uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1606-1608)CGC>AGC		protocadherin beta 11 precursor							43.0	58.0	53.0					5																	140580953		2202	4299	6501	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580953C>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1606C>A	5.37:g.140580953C>A	ENSP00000346802:p.Arg536Ser					PCDHB11_uc011daj.1_Missense_Mutation_p.R171S	p.R536S	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1606	+			536			Extracellular (Potential).|Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1606C>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	11.55	1.671249	0.29693	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01629	4.72;4.72	2.51	-2.51	0.06365	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01287	0.0042	N	0.13235	0.315	0.09310	N	1	B	0.18863	0.031	B	0.38842	0.283	T	0.50013	-0.8877	9	0.06494	T	0.89	.	3.1837	0.06593	0.2526:0.1801:0.4615:0.1058	.	536	Q9Y5F2	PCDBB_HUMAN	S	171;536	ENSP00000440344:R171S;ENSP00000346802:R536S	ENSP00000346802:R536S	R	+	1	0	PCDHB11	140561137	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-0.481000	0.06552	-0.445000	0.07159	0.298000	0.19748	CGC		0.667	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		29	10	1	0	3.17567e-06	0.008361	3.71277e-06	29	10				
PCDHB11	56125	broad.mit.edu	37	5	140581353	140581353	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140581353C>A	ENST00000354757.3	+	1	2006	c.2006C>A	c.(2005-2007)cCc>cAc	p.P669H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.P304H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	669	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)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCCG	0.687																																							uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2005-2007)CCC>CAC		protocadherin beta 11 precursor							44.0	47.0	46.0					5																	140581353		2174	4267	6441	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581353C>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2006C>A	5.37:g.140581353C>A	ENSP00000346802:p.Pro669His					PCDHB11_uc011daj.1_Missense_Mutation_p.P304H	p.P669H	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2006	+			669			Extracellular (Potential).|Cadherin 6.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.2006C>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	15.04	2.713767	0.48622	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.56444	0.46;0.72	2.77	2.77	0.32553	Cadherin (2);	.	.	.	.	T	0.68815	0.3042	M	0.79693	2.465	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55405	-0.8146	9	0.87932	D	0	.	6.338	0.21306	0.0:0.7594:0.0:0.2406	.	669	Q9Y5F2	PCDBB_HUMAN	H	304;669	ENSP00000440344:P304H;ENSP00000346802:P669H	ENSP00000346802:P669H	P	+	2	0	PCDHB11	140561537	0.006000	0.16342	0.909000	0.35828	0.936000	0.57629	0.878000	0.28126	1.554000	0.49487	0.549000	0.68633	CCC		0.687	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		32	12	1	0	1.74807e-11	0.002096	2.45005e-11	32	12				
PCDHB12	56124	broad.mit.edu	37	5	140590838	140590838	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140590838C>T	ENST00000239450.2	+	1	2548	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Missense_Mutation_p.P450S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	787					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(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAAGAAAATCCCCCATTTCA	0.378																																							uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(2359-2361)CCC>TCC		protocadherin beta 12 precursor							55.0	57.0	56.0					5																	140590838		2202	4300	6502	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590838C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2359C>T	5.37:g.140590838C>T	ENSP00000239450:p.Pro787Ser					PCDHB12_uc011dak.1_Missense_Mutation_p.P450S|PCDHB13_uc003lja.1_5'Flank	p.P787S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2548	+			787			Cytoplasmic (Potential).		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2359C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	1.770	-0.484601	0.04352	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.13089	2.62;2.62	2.74	-5.49	0.02584	.	.	.	.	.	T	0.05227	0.0139	N	0.17838	0.53	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41305	-0.9516	9	0.08837	T	0.75	.	2.0524	0.03574	0.1387:0.2583:0.3943:0.2087	.	787	Q9Y5F1	PCDBC_HUMAN	S	450;787;407	ENSP00000440199:P450S;ENSP00000239450:P787S	ENSP00000239450:P787S	P	+	1	0	PCDHB12	140571022	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.265000	0.08644	-2.403000	0.00577	0.313000	0.20887	CCC		0.378	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		18	6	0	0	0	0.006122	0	18	6				
PCDHB13	56123	broad.mit.edu	37	5	140594246	140594246	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140594246G>T	ENST00000341948.4	+	1	738	c.551G>T	c.(550-552)cGc>cTc	p.R184L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCTCACCCGCAAACGCAGT	0.488																																							uc003lja.1		NA																	0				skin(2)|ovary(1)	3						c.(550-552)CGC>CTC		protocadherin beta 13 precursor							36.0	41.0	39.0					5																	140594246		2203	4297	6500	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594246G>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.551G>T	5.37:g.140594246G>T	ENSP00000345491:p.Arg184Leu						p.R184L	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	738	+			184			Cadherin 2.|Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.551G>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	g	19.09	3.759820	0.69763	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.20738	2.05	3.55	-0.662	0.11413	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19485	0.0468	L	0.61387	1.9	0.09310	N	1	B	0.25441	0.126	B	0.28139	0.086	T	0.30909	-0.9962	9	0.51188	T	0.08	.	3.8774	0.09062	0.2888:0.0:0.5475:0.1637	.	184	Q9Y5F0	PCDBD_HUMAN	L	184	ENSP00000345491:R184L	ENSP00000345491:R184L	R	+	2	0	PCDHB13	140574430	0.000000	0.05858	0.000000	0.03702	0.928000	0.56348	-2.356000	0.01087	-0.491000	0.06697	0.313000	0.20887	CGC		0.488	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		21	5	1	0	7.41877e-09	0.001882	9.4081e-09	21	5				
PCDHB18	54660	broad.mit.edu	37	5	140615975	140615975	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140615975G>T	ENST00000526308.1	+	0	2038					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCTGTTCGGCGTGTGGGCGCA	0.697																																							uc003ljc.1		NA																	0				ovary(1)	1						c.(1690-1692)GTG>TTG		SubName: Full=Similar to protocadherin-3 (Pcdh3);																																						54660							g.chr5:140615975G>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615975G>T							p.V564L	NR_001281						1	2038	+								B3KTF8	Missense_Mutation	SNP	ENST00000526308.1	37	c.1690G>T																																																																																					0.697	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			33	7	1	0	2.87052e-16	0.005524	4.57228e-16	33	7				
PCDHGA4	56111	broad.mit.edu	37	5	140736547	140736547	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140736547G>T	ENST00000571252.1	+	1	1780	c.1780G>T	c.(1780-1782)Gtg>Ttg	p.V594L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	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)			AGTGGTGGCAGTGGACAGAGA	0.607																																							uc003ljq.1		NA																	0					0						c.(1780-1782)GTG>TTG		protocadherin gamma subfamily A, 4 isoform 1							89.0	99.0	95.0					5																	140736547		2201	4300	6501	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736547G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1780G>T	5.37:g.140736547G>T	ENSP00000458570:p.Val594Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V594L	p.V594L	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1780	+			594			Extracellular (Potential).|Cadherin 6.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1780G>T	CCDS58979.1																																																																																				0.607	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		44	19	1	0	1.00001e-27	0.009718	1.94271e-27	44	19				
PCDHGB3	56102	broad.mit.edu	37	5	140751907	140751907	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140751907G>T	ENST00000576222.1	+	1	2077	c.1946G>T	c.(1945-1947)gGa>gTa	p.G649V	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	649	Cadherin 6. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGTGATGGAGGACAGCAG	0.637																																							uc003ljw.1		NA																	0					0						c.(1945-1947)GGA>GTA		protocadherin gamma subfamily B, 3 isoform 1							48.0	54.0	52.0					5																	140751907		2128	4245	6373	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751907G>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.1946G>T	5.37:g.140751907G>T	ENSP00000461862:p.Gly649Val					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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.G649V|PCDHGA6_uc011dau.1_5'Flank	p.G649V	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1946	+			649			Extracellular (Potential).|Cadherin 6.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1946G>T	CCDS58980.1																																																																																				0.637	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		15	8	1	0	7.93312e-07	0.00245	9.43756e-07	15	8				
PCDHGB6	56100	broad.mit.edu	37	5	140788431	140788431	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140788431C>A	ENST00000520790.1	+	1	662	c.662C>A	c.(661-663)cCa>cAa	p.P221Q	PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	221	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)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGACCCACCAAGAAGTGCC	0.458																																							uc003lkj.1		NA																	0					0						c.(661-663)CCA>CAA		protocadherin gamma subfamily B, 6 isoform 1							32.0	34.0	34.0					5																	140788431		1867	4106	5973	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788431C>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.662C>A	5.37:g.140788431C>A	ENSP00000428603:p.Pro221Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.P221Q	p.P221Q	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	662	+			221			Extracellular (Potential).|Cadherin 2.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.662C>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	3.826	-0.036858	0.07497	.	.	ENSG00000253305	ENST00000520790	T	0.56444	0.46	5.34	4.35	0.52113	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54240	0.1846	L	0.42581	1.335	0.09310	N	1	P;P	0.46064	0.872;0.845	P;P	0.60609	0.877;0.805	T	0.46555	-0.9183	9	0.10377	T	0.69	.	5.3388	0.15973	0.0:0.6163:0.1925:0.1911	.	221;221	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	Q	221	ENSP00000428603:P221Q	ENSP00000428603:P221Q	P	+	2	0	PCDHGB6	140768615	0.000000	0.05858	0.074000	0.20217	0.917000	0.54804	-0.108000	0.10857	2.502000	0.84385	0.467000	0.42956	CCA		0.458	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		4	2	1	0	0.00909568	0.009096	0.0094611	4	2				
IL17B	27190	broad.mit.edu	37	5	148754126	148754126	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:148754126G>T	ENST00000261796.3	-	3	399	c.349C>A	c.(349-351)Ccg>Acg	p.P117T	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	117					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCTCCGGCAGGTCCACG	0.627																																							uc003lqo.2		NA																	0				central_nervous_system(1)	1						c.(349-351)CCG>ACG		interleukin 17B precursor							31.0	31.0	31.0					5																	148754126		2200	4291	6491	SO:0001583	missense	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148754126G>T	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.349C>A	5.37:g.148754126G>T	ENSP00000261796:p.Pro117Thr						p.P117T	NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	399	-			117					Q14CE5	Missense_Mutation	SNP	ENST00000261796.3	37	c.349C>A	CCDS4297.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862785	0.71949	.	.	ENSG00000127743	ENST00000261796	T	0.55413	0.52	4.68	4.68	0.58851	.	0.084627	0.50627	D	0.000113	T	0.66839	0.2830	L	0.51914	1.62	0.49130	D	0.999751	D	0.89917	1.0	D	0.91635	0.999	T	0.62728	-0.6793	10	0.27785	T	0.31	-23.1114	17.807	0.88604	0.0:0.0:1.0:0.0	.	117	Q9UHF5	IL17B_HUMAN	T	117	ENSP00000261796:P117T	ENSP00000261796:P117T	P	-	1	0	IL17B	148734319	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.282000	0.78630	2.423000	0.82170	0.561000	0.74099	CCG		0.627	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443		10	2	1	0	7.48243e-07	0.006214	8.9163e-07	10	2				
CSF1R	1436	broad.mit.edu	37	5	149460556	149460556	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:149460556G>T	ENST00000286301.3	-	3	372	c.81C>A	c.(79-81)gtC>gtA	p.V27V	CSF1R_ENST00000543093.1_Silent_p.V27V	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	27	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCAGCTCAGGGACACTGGGCT	0.612																																							uc003lrl.2		NA																	0				haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(79-81)GTC>GTA		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						86.0	61.0	69.0					5																	149460556		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460556G>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.81C>A	5.37:g.149460556G>T						CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.V27V|CSF1R_uc011dce.1_Silent_p.V27V|CSF1R_uc011dcf.1_Silent_p.V27V	p.V27V	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	276	-			27			Ig-like C2-type 1.|Extracellular (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.81C>A	CCDS4302.1																																																																																				0.612	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		6	3	1	0	0.00116845	0.001168	0.00123892	6	3				
TCOF1	6949	broad.mit.edu	37	5	149747463	149747463	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:149747463A>C	ENST00000504761.2	+	4	361	c.361A>C	c.(361-363)Atg>Ctg	p.M121L	TCOF1_ENST00000439160.2_Missense_Mutation_p.M121L|TCOF1_ENST00000445265.2_Missense_Mutation_p.M121L|TCOF1_ENST00000451292.1_Missense_Mutation_p.M121L|TCOF1_ENST00000394269.3_Missense_Mutation_p.M121L|TCOF1_ENST00000323668.7_Missense_Mutation_p.M121L|TCOF1_ENST00000513346.1_Missense_Mutation_p.M121L|TCOF1_ENST00000377797.3_Missense_Mutation_p.M121L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	121					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)			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)			GCCATCAAGCATGAAAGAAAA	0.493																																							uc003lry.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(361-363)ATG>CTG		Treacher Collins-Franceschetti syndrome 1							87.0	87.0	87.0					5																	149747463		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149747463A>C		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.361A>C	5.37:g.149747463A>C	ENSP00000421655:p.Met121Leu					TCOF1_uc003lrw.2_Missense_Mutation_p.M121L|TCOF1_uc011dch.1_Missense_Mutation_p.M121L|TCOF1_uc003lrz.2_Missense_Mutation_p.M121L|TCOF1_uc003lrx.2_Missense_Mutation_p.M121L|TCOF1_uc003lsa.2_Missense_Mutation_p.M121L	p.M121L	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	469	+		all_hematologic(541;0.224)	121					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.361A>C	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.317605	0.01331	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346;ENST00000515516	T;T;T;T;T;D;T;T;T;D	0.83837	-0.8;-0.81;-0.82;-0.83;-0.8;-1.62;-0.8;-0.8;-0.8;-1.77	4.46	-8.91	0.00778	.	2.083720	0.02161	N	0.058803	T	0.69424	0.3109	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0;0.0	B;B;B;B;B;B	0.08055	0.003;0.0;0.003;0.001;0.0;0.0	T	0.55036	-0.8203	10	0.38643	T	0.18	0.7638	2.7662	0.05321	0.3023:0.1963:0.3816:0.1198	.	121;121;121;121;121;121	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	L	121;121;121;121;121;121;121;121;121;109	ENSP00000400939:M121L;ENSP00000367028:M121L;ENSP00000409944:M121L;ENSP00000325223:M121L;ENSP00000406888:M121L;ENSP00000377811:M121L;ENSP00000390717:M121L;ENSP00000421655:M121L;ENSP00000427484:M121L;ENSP00000426471:M109L	ENSP00000325223:M121L	M	+	1	0	TCOF1	149727656	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.374000	0.01072	-2.650000	0.00424	-1.783000	0.00646	ATG		0.493	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		9	3	0	0	0	0.008291	0	9	3				
FAT2	2196	broad.mit.edu	37	5	150920179	150920179	+	Silent	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:150920179A>T	ENST00000261800.5	-	10	9000	c.8988T>A	c.(8986-8988)acT>acA	p.T2996T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2996	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATCTCCACAGTGACCGAAG	0.532																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(8986-8988)ACT>ACA		FAT tumor suppressor 2 precursor							102.0	85.0	90.0					5																	150920179		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150920179A>T	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.8988T>A	5.37:g.150920179A>T						GM2A_uc011dcs.1_Intron	p.T2996T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	9001	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2996			Extracellular (Potential).|Cadherin 26.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.8988T>A	CCDS4317.1																																																																																				0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		16	2	0	0	0	0.004007	0	16	2				
HAVCR1	26762	broad.mit.edu	37	5	156482482	156482482	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:156482482G>T	ENST00000339252.3	-	2	641	c.109C>A	c.(109-111)Cac>Aac	p.H37N	HAVCR1_ENST00000522693.1_Missense_Mutation_p.H37N|HAVCR1_ENST00000544197.1_Missense_Mutation_p.H37N|HAVCR1_ENST00000523175.1_Missense_Mutation_p.H37N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.H37N	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCACTGTAGTGGCAGGGTAGT	0.483																																							uc010jij.1		NA																	0		p.H37Q(1)		ovary(1)|skin(1)	2						c.(109-111)CAC>AAC		hepatitis A virus cellular receptor 1							67.0	67.0	67.0					5																	156482482		1966	4157	6123	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482482G>T	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.109C>A	5.37:g.156482482G>T	ENSP00000344844:p.His37Asn					HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.H37N|HAVCR1_uc011ddm.1_Missense_Mutation_p.H37N	p.H37N	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	294	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	37			Extracellular (Potential).|Ig-like V-type.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.109C>A	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057850	0.19987	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.44	-3.9	0.04181	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.795960	0.02300	N	0.071087	T	0.41073	0.1143	N	0.12502	0.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11324	-1.0592	10	0.27785	T	0.31	-0.7794	0.4306	0.00471	0.308:0.1369:0.2151:0.34	.	37;37	F1CME6;Q96D42	.;HAVR1_HUMAN	N	37	ENSP00000428524:H37N;ENSP00000427898:H37N;ENSP00000344844:H37N;ENSP00000403333:H37N;ENSP00000440258:H37N;ENSP00000428422:H37N	ENSP00000344844:H37N	H	-	1	0	HAVCR1	156415060	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.789000	0.04609	-0.226000	0.09899	-0.275000	0.10095	CAC		0.483	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			24	2	1	0	7.07758e-08	0.004656	8.74867e-08	24	2				
FAM71B	153745	broad.mit.edu	37	5	156589873	156589873	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:156589873C>G	ENST00000302938.4	-	2	1498	c.1403G>C	c.(1402-1404)cGg>cCg	p.R468P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	468						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGATGCGGACCGGTGGGAAGA	0.527																																							uc003lwn.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1402-1404)CGG>CCG		family with sequence similarity 71, member B							202.0	191.0	195.0					5																	156589873		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589873C>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1403G>C	5.37:g.156589873C>G	ENSP00000305596:p.Arg468Pro						p.R468P	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1503	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	468					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1403G>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622274	0.66787	.	.	ENSG00000170613	ENST00000302938	T	0.19938	2.11	4.64	3.74	0.42951	.	0.000000	0.37669	N	0.001985	T	0.43033	0.1229	M	0.78049	2.395	0.33856	D	0.633227	D	0.76494	0.999	D	0.66196	0.942	T	0.61178	-0.7115	10	0.87932	D	0	-2.7197	10.5307	0.44975	0.194:0.806:0.0:0.0	.	468	Q8TC56	FA71B_HUMAN	P	468	ENSP00000305596:R468P	ENSP00000305596:R468P	R	-	2	0	FAM71B	156522451	0.752000	0.28338	0.969000	0.41365	0.050000	0.14768	0.325000	0.19628	1.206000	0.43276	0.655000	0.94253	CGG		0.527	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		58	16	0	0	0	0.00361	0	58	16				
NIPAL4	348938	broad.mit.edu	37	5	156898710	156898710	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:156898710G>T	ENST00000311946.7	+	5	773	c.657G>T	c.(655-657)ctG>ctT	p.L219L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Silent_p.L200L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	219						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGAACCTGCTGGGGAAGCTGG	0.547											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003lwx.3		NA																	0					0						c.(655-657)CTG>CTT		ichthyin protein							43.0	44.0	43.0					5																	156898710		2070	4219	6289	SO:0001819	synonymous_variant	348938					integral to membrane	receptor activity	g.chr5:156898710G>T	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.657G>T	5.37:g.156898710G>T			OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Silent_p.L200L	p.L219L	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			5	773	+			219			Helical; (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Silent	SNP	ENST00000311946.7	37	c.657G>T	CCDS47328.1																																																																																				0.547	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		5	1	1	0	0.00116845	0.001168	0.00123892	5	1				
NIPAL4	348938	broad.mit.edu	37	5	156899633	156899633	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:156899633G>T	ENST00000311946.7	+	6	1182	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.V337L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	356						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CACTTCCCTGGTGTTCCCCAT	0.542											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003lwx.3		NA																	0					0						c.(1066-1068)GTG>TTG		ichthyin protein							148.0	144.0	145.0					5																	156899633		2104	4228	6332	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156899633G>T	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1066G>T	5.37:g.156899633G>T	ENSP00000311687:p.Val356Leu		OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.V337L	p.V356L	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			6	1182	+			356			Helical; (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.1066G>T	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462227	0.96240	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.92752	-3.1;-3.1	6.04	6.04	0.98038	.	0.052126	0.85682	D	0.000000	D	0.97306	0.9119	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.97371	0.9976	10	0.87932	D	0	-10.2106	20.5792	0.99380	0.0:0.0:1.0:0.0	.	337;356	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	L	337;356	ENSP00000406456:V337L;ENSP00000311687:V356L	ENSP00000311687:V356L	V	+	1	0	NIPAL4	156832211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GTG		0.542	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		28	13	1	0	7.26314e-15	0.007291	1.10499e-14	28	13				
GABRA6	2559	broad.mit.edu	37	5	161119118	161119118	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:161119118A>T	ENST00000274545.5	+	8	1431	c.998A>T	c.(997-999)cAg>cTg	p.Q333L	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.Q323L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	333					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	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)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)	CTTCAGACACAGAAGGCCAAA	0.453										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(997-999)CAG>CTG		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						162.0	139.0	147.0					5																	161119118		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119118A>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.998A>T	5.37:g.161119118A>T	ENSP00000274545:p.Gln333Leu	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.Q104L	p.Q333L	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1336	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	333			Cytoplasmic (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.998A>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.875355	0.51695	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85629	-2.01;-2.01	5.04	5.04	0.67666	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.106557	0.64402	D	0.000004	T	0.81128	0.4758	L	0.43923	1.385	0.51767	D	0.999933	B	0.22211	0.066	B	0.22386	0.039	T	0.78373	-0.2229	10	0.51188	T	0.08	.	14.7685	0.69657	1.0:0.0:0.0:0.0	.	333	Q16445	GBRA6_HUMAN	L	333;323	ENSP00000274545:Q333L;ENSP00000430527:Q323L	ENSP00000274545:Q333L	Q	+	2	0	GABRA6	161051696	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	4.382000	0.59594	1.881000	0.54492	0.455000	0.32223	CAG		0.453	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			17	6	0	0	0	0.004007	0	17	6				
TENM2	57451	broad.mit.edu	37	5	167653201	167653201	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:167653201C>A	ENST00000518659.1	+	24	5256	c.5217C>A	c.(5215-5217)aaC>aaA	p.N1739K	TENM2_ENST00000545108.1_Missense_Mutation_p.N1738K|TENM2_ENST00000403607.2_Missense_Mutation_p.N1563K|TENM2_ENST00000520394.1_Missense_Mutation_p.N1500K|TENM2_ENST00000519204.1_Missense_Mutation_p.N1618K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1739					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGAACTCCAACCGTGATGATG	0.542																																							uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(5188-5190)AAC>AAA		odz, odd Oz/ten-m homolog 2							63.0	65.0	64.0					5																	167653201		2012	4175	6187	SO:0001583	missense	57451							g.chr5:167653201C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5217C>A	5.37:g.167653201C>A	ENSP00000429430:p.Asn1739Lys					ODZ2_uc003lzr.3_Missense_Mutation_p.N1500K|ODZ2_uc003lzt.3_Missense_Mutation_p.N1103K|ODZ2_uc010jje.2_Missense_Mutation_p.N994K	p.N1730K	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	24	5190	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5190C>A		.	.	.	.	.	.	.	.	.	.	C	12.49	1.953012	0.34471	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88896	-1.97;-1.96;-2.07;-2.42;-2.44	5.38	0.503	0.16940	.	0.123598	0.85682	D	0.000000	T	0.79173	0.4401	L	0.41824	1.3	0.40505	D	0.980685	P;B;P	0.46142	0.486;0.354;0.873	B;B;B	0.36464	0.138;0.065;0.225	T	0.72737	-0.4203	10	0.16420	T	0.52	.	10.8378	0.46698	0.0:0.5845:0.0:0.4155	.	1738;1739;1500	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	1739;1738;1618;1500;1563	ENSP00000429430:N1739K;ENSP00000438635:N1738K;ENSP00000428964:N1618K;ENSP00000427874:N1500K;ENSP00000384905:N1563K	ENSP00000384905:N1563K	N	+	3	2	ODZ2	167585779	0.998000	0.40836	0.969000	0.41365	0.736000	0.42039	0.603000	0.24149	0.024000	0.15214	-1.056000	0.02311	AAC		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		10	2	1	0	3.86212e-05	0.008291	4.31346e-05	10	2				
DOCK2	1794	broad.mit.edu	37	5	169267785	169267785	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:169267785G>A	ENST00000256935.8	+	27	2808	c.2728G>A	c.(2728-2730)Gag>Aag	p.E910K	DOCK2_ENST00000520908.1_Missense_Mutation_p.E402K|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	910					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATATCCAGGAGATCATGGT	0.473																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2728-2730)GAG>AAG		dedicator of cytokinesis 2							139.0	114.0	123.0					5																	169267785		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169267785G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2728G>A	5.37:g.169267785G>A	ENSP00000256935:p.Glu910Lys					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E402K	p.E910K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		27	2808	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	910					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2728G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788414	0.49997	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.68624	-0.34;-0.34;-0.34	5.37	5.37	0.77165	.	0.143286	0.64402	D	0.000008	T	0.57431	0.2053	L	0.43923	1.385	0.80722	D	1	B;B	0.17667	0.003;0.023	B;B	0.11329	0.006;0.005	T	0.53222	-0.8469	10	0.11182	T	0.66	.	16.0154	0.80434	0.0:0.0:1.0:0.0	.	402;910	E7ERW7;Q92608	.;DOCK2_HUMAN	K	910;291;402;114	ENSP00000256935:E910K;ENSP00000429283:E402K;ENSP00000428841:E114K	ENSP00000256935:E910K	E	+	1	0	DOCK2	169200363	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.268000	0.72552	2.508000	0.84585	0.650000	0.86243	GAG		0.473	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		6	4	0	0	0	0.00308	0	6	4				
STC2	8614	broad.mit.edu	37	5	172745123	172745124	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:172745123_172745124GG>TT	ENST00000265087.4	-	4	1944_1945	c.635_636CC>AA	c.(634-636)aCC>aAA	p.T212K	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	212					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATGGCCGAGGTGCAGAAGCT	0.649																																							uc003mco.1		NA																	0				skin(2)|ovary(1)	3						c.(634-636)ACC>AAA		stanniocalcin 2 precursor																																				SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172745123_172745124GG>TT	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.635_636delinsTT	5.37:g.172745123_172745124delinsTT	ENSP00000265087:p.Thr212Lys					STC2_uc003mcn.1_Missense_Mutation_p.T127K	p.T212K	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	1945_1946	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	212						Missense_Mutation	DNP	ENST00000265087.4	37	c.635_636CC>AA	CCDS4388.1																																																																																				0.649	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		13	9	0	0	0	0.004672	0	13	9				
SLC34A1	6569	broad.mit.edu	37	5	176812848	176812848	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:176812848C>G	ENST00000324417.5	+	2	197	c.106C>G	c.(106-108)Cag>Gag	p.Q36E	SLC34A1_ENST00000512593.1_Missense_Mutation_p.Q36E	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	36					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GCCCAGCCCTCAGGGTAAGTG	0.682																																							uc003mgk.3		NA																	0				ovary(1)	1						c.(106-108)CAG>GAG		solute carrier family 34 (sodium phosphate),							63.0	50.0	54.0					5																	176812848		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176812848C>G	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.106C>G	5.37:g.176812848C>G	ENSP00000321424:p.Gln36Glu						p.Q36E	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	207	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	36			Cytoplasmic (Potential).		B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.106C>G	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930223	0.52866	.	.	ENSG00000131183	ENST00000504577;ENST00000512593;ENST00000324417	T;T	0.52295	0.67;1.44	4.95	4.06	0.47325	.	0.380247	0.24336	N	0.039414	T	0.54382	0.1855	L	0.32530	0.975	0.28128	N	0.930326	D	0.54964	0.969	D	0.64877	0.93	T	0.51028	-0.8757	10	0.62326	D	0.03	-31.352	12.0265	0.53373	0.1727:0.8273:0.0:0.0	.	36	Q06495	NPT2A_HUMAN	E	36	ENSP00000423022:Q36E;ENSP00000321424:Q36E	ENSP00000321424:Q36E	Q	+	1	0	SLC34A1	176745454	0.995000	0.38212	0.895000	0.35142	0.388000	0.30384	4.292000	0.59031	1.060000	0.40578	0.561000	0.74099	CAG		0.682	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		11	5	0	0	0	0.001368	0	11	5				
ECI2	10455	broad.mit.edu	37	6	4125573	4125573	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:4125573T>A	ENST00000380118.3	-	7	742	c.706A>T	c.(706-708)Aag>Tag	p.K236*	ECI2_ENST00000465828.1_Nonsense_Mutation_p.K206*|ECI2_ENST00000380125.2_Nonsense_Mutation_p.K206*|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000430835.2_3'UTR|ECI2_ENST00000361538.2_Nonsense_Mutation_p.K206*|ECI2_ENST00000413766.2_Nonsense_Mutation_p.K69*			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	236	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ATCAGAGGCTTAGGAAAATCT	0.463																																							uc003mwf.2		NA																	0					0						c.(706-708)AAG>TAG		peroxisomal D3,D2-enoyl-CoA isomerase isoform 2							110.0	106.0	108.0					6																	4125573		2203	4300	6503	SO:0001587	stop_gained	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4125573T>A	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.706A>T	6.37:g.4125573T>A	ENSP00000369461:p.Lys236*					C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_RNA|C6orf201_uc011dhw.1_3'UTR|C6orf201_uc003mwb.3_RNA|PECI_uc003mwc.2_Nonsense_Mutation_p.K69*|PECI_uc003mwd.2_Nonsense_Mutation_p.K206*|PECI_uc003mwe.2_Nonsense_Mutation_p.K83*|PECI_uc010jnr.1_Intron	p.K236*	NM_206836	NP_996667	O75521	ECI2_HUMAN			7	743	-	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	236			ECH-like.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Nonsense_Mutation	SNP	ENST00000380118.3	37	c.706A>T	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	T	36	5.688270	0.96784	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	.	.	.	5.46	5.46	0.80206	.	0.088182	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6613	0.68873	0.0:0.0:0.0:1.0	.	.	.	.	X	236;206;69;206;206	.	ENSP00000354737:K206X	K	-	1	0	ECI2	4070572	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.050000	0.76620	2.191000	0.70037	0.533000	0.62120	AAG		0.463	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		32	5	0	0	0	0.002445	0	32	5				
FARS2	10667	broad.mit.edu	37	6	5369009	5369009	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:5369009A>T	ENST00000324331.6	+	2	542	c.206A>T	c.(205-207)aAg>aTg	p.K69M	FARS2_ENST00000274680.4_Missense_Mutation_p.K69M			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	69					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTCACCCGGAAGGTCCTCACC	0.582																																							uc010jnv.1		NA																	0					0						c.(205-207)AAG>ATG		phenylalanyl-tRNA synthetase 2 precursor	L-Phenylalanine(DB00120)						82.0	64.0	70.0					6																	5369009		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5369009A>T	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.206A>T	6.37:g.5369009A>T	ENSP00000316335:p.Lys69Met					FARS2_uc003mwr.2_Missense_Mutation_p.K69M|FARS2_uc003mws.1_Missense_Mutation_p.K69M	p.K69M	NM_006567	NP_006558	O95363	SYFM_HUMAN			2	542	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	69					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.206A>T	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949992	0.53186	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.58210	0.35;0.35	5.33	2.53	0.30540	.	0.218079	0.45126	D	0.000387	T	0.33089	0.0851	L	0.32530	0.975	0.45621	D	0.998551	D	0.67145	0.996	P	0.52066	0.689	T	0.24870	-1.0148	10	0.66056	D	0.02	-8.3471	5.874	0.18819	0.7338:0.1576:0.1086:0.0	.	69	O95363	SYFM_HUMAN	M	69	ENSP00000274680:K69M;ENSP00000316335:K69M	ENSP00000274680:K69M	K	+	2	0	FARS2	5314008	1.000000	0.71417	0.252000	0.24328	0.706000	0.40770	4.117000	0.57877	0.826000	0.34661	0.533000	0.62120	AAG		0.582	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		19	6	0	0	0	0.010504	0	19	6				
LY86	9450	broad.mit.edu	37	6	6649876	6649876	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:6649876G>T	ENST00000379953.2	+	5	723	c.371G>T	c.(370-372)gGg>gTg	p.G124V	LY86_ENST00000230568.4_Missense_Mutation_p.G124V			O95711	LY86_HUMAN	lymphocyte antigen 86	124					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TACTATGCTGGGCCTGTCAAT	0.299																																							uc003mwy.1		NA																	0					0						c.(370-372)GGG>GTG		MD-1, RP105-associated precursor							90.0	88.0	89.0					6																	6649876		2203	4300	6503	SO:0001583	missense	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6649876G>T	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.371G>T	6.37:g.6649876G>T	ENSP00000369286:p.Gly124Val					LY86_uc003mwz.1_RNA	p.G124V	NM_004271	NP_004262	O95711	LY86_HUMAN			4	405	+	Ovarian(93;0.0377)		124					Q9UQC4	Missense_Mutation	SNP	ENST00000379953.2	37	c.371G>T	CCDS4498.1	.	.	.	.	.	.	.	.	.	.	g	15.23	2.770857	0.49680	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	T;T	0.39406	1.08;1.08	5.13	5.13	0.70059	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.000000	0.64402	D	0.000002	T	0.54095	0.1837	M	0.62723	1.935	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.57271	-0.7840	10	0.72032	D	0.01	-9.326	14.4556	0.67413	0.0:0.0:1.0:0.0	.	124	O95711	LY86_HUMAN	V	124	ENSP00000369286:G124V;ENSP00000230568:G124V	ENSP00000230568:G124V	G	+	2	0	LY86	6594875	0.997000	0.39634	0.575000	0.28536	0.697000	0.40408	4.309000	0.59135	2.542000	0.85734	0.645000	0.84053	GGG		0.299	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2			14	7	1	0	4.14922e-12	0.004007	5.92033e-12	14	7				
DSP	1832	broad.mit.edu	37	6	7572226	7572226	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:7572226G>T	ENST00000379802.3	+	15	2396	c.2055G>T	c.(2053-2055)agG>agT	p.R685S	DSP_ENST00000418664.2_Missense_Mutation_p.R685S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	685	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCGAGGGCAGGATGACTCTCA	0.443																																							uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(2053-2055)AGG>AGT		desmoplakin isoform I							77.0	74.0	75.0					6																	7572226		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7572226G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2055G>T	6.37:g.7572226G>T	ENSP00000369129:p.Arg685Ser					DSP_uc003mxq.1_Missense_Mutation_p.R685S	p.R685S	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	15	2334	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	685			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2055G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358617	0.61403	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.77877	-0.72;-1.13	5.58	-6.79	0.01715	.	0.000000	0.64402	D	0.000007	T	0.63896	0.2550	N	0.24115	0.695	0.22366	N	0.999163	B;D	0.57899	0.041;0.981	B;D	0.69824	0.025;0.966	T	0.71912	-0.4449	10	0.56958	D	0.05	.	13.7276	0.62767	0.3221:0.085:0.5929:0.0	.	732;685	Q4LE79;P15924	.;DESP_HUMAN	S	685;685;490	ENSP00000369129:R685S;ENSP00000396591:R685S	ENSP00000369129:R685S	R	+	3	2	DSP	7517225	0.478000	0.25917	0.061000	0.19648	0.761000	0.43186	-0.451000	0.06795	-1.454000	0.01926	0.585000	0.79938	AGG		0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		28	4	1	0	7.41945e-09	0.005443	9.4081e-09	28	4				
MYLIP	29116	broad.mit.edu	37	6	16143360	16143360	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:16143360G>T	ENST00000356840.3	+	4	772	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	MYLIP_ENST00000349606.4_Missense_Mutation_p.V11L|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	192	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ATGGCATTCTGTGCGGGATAG	0.453																																							uc003nbq.2		NA																	0				pancreas(1)	1						c.(574-576)GTG>TTG		myosin regulatory light chain interacting							158.0	152.0	154.0					6																	16143360		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16143360G>T	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.574G>T	6.37:g.16143360G>T	ENSP00000349298:p.Val192Leu					MYLIP_uc003nbr.2_Missense_Mutation_p.V11L	p.V192L	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		4	811	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	192			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.574G>T	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966153	0.74131	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	D;T	0.83419	-1.72;1.17	5.57	5.57	0.84162	FERM domain (1);Pleckstrin homology-type (1);	0.050220	0.85682	D	0.000000	T	0.76615	0.4012	L	0.60455	1.87	0.58432	D	0.999997	B	0.29037	0.231	B	0.25140	0.058	T	0.76838	-0.2811	10	0.72032	D	0.01	-3.6946	19.9047	0.97002	0.0:0.0:1.0:0.0	.	192	Q8WY64	MYLIP_HUMAN	L	192;11	ENSP00000349298:V192L;ENSP00000008686:V11L	ENSP00000008686:V11L	V	+	1	0	MYLIP	16251339	1.000000	0.71417	0.844000	0.33320	0.871000	0.50021	9.316000	0.96319	2.763000	0.94921	0.655000	0.94253	GTG		0.453	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		32	6	1	0	2.20262e-25	0.002836	4.1379e-25	32	6				
SLC17A4	10050	broad.mit.edu	37	6	25773795	25773795	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:25773795C>T	ENST00000377905.4	+	8	999	c.880C>T	c.(880-882)Ctc>Ttc	p.L294F	SLC17A4_ENST00000397076.2_Missense_Mutation_p.L64F|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	294					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCCTTACCACTCTGGGCCAT	0.468																																							uc003nfe.2		NA																	0				skin(1)	1						c.(880-882)CTC>TTC		solute carrier family 17 (sodium phosphate),							181.0	158.0	166.0					6																	25773795		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25773795C>T	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.880C>T	6.37:g.25773795C>T	ENSP00000367137:p.Leu294Phe					SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.L55F|SLC17A4_uc003nfg.2_Missense_Mutation_p.L231F|SLC17A4_uc010jqa.2_Missense_Mutation_p.L7F	p.L294F	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			8	999	+			294			Helical; (Potential).		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.880C>T	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260682	0.59431	.	.	ENSG00000146039	ENST00000377905;ENST00000397076	T;T	0.60040	0.22;0.33	5.2	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.44285	D	0.000475	T	0.40297	0.1111	L	0.45228	1.405	0.43512	D	0.995772	P;B	0.48503	0.911;0.114	P;B	0.47573	0.55;0.398	T	0.32214	-0.9915	10	0.37606	T	0.19	.	10.0099	0.41979	0.0:0.9058:0.0:0.0942	.	64;294	E7EU17;Q9Y2C5	.;S17A4_HUMAN	F	294;64	ENSP00000367137:L294F;ENSP00000380266:L64F	ENSP00000367137:L294F	L	+	1	0	SLC17A4	25881774	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	2.340000	0.43974	1.325000	0.45301	0.655000	0.94253	CTC		0.468	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			17	2	0	0	0	0.004007	0	17	2				
BTN3A1	11119	broad.mit.edu	37	6	26413455	26413455	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:26413455G>T	ENST00000289361.6	+	10	1445	c.1077G>T	c.(1075-1077)caG>caT	p.Q359H	BTN3A1_ENST00000414912.2_Missense_Mutation_p.Q307H|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	359	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGAGGACCAGAGGAGTGTGC	0.493																																							uc003nhv.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1075-1077)CAG>CAT		butyrophilin, subfamily 3, member A1 isoform a							128.0	138.0	134.0					6																	26413455		2203	4300	6503	SO:0001583	missense	11119				lipid metabolic process	integral to membrane		g.chr6:26413455G>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1077G>T	6.37:g.26413455G>T	ENSP00000289361:p.Gln359His					BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.Q307H|BTN3A1_uc010jqj.2_3'UTR	p.Q359H	NM_007048	NP_008979	O00481	BT3A1_HUMAN			10	1445	+			359			Cytoplasmic (Potential).|B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.1077G>T	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.888011	0.33348	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.10477	2.87;2.87	2.96	-2.14	0.07123	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.06554	0.0168	L	0.48642	1.525	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.62014	0.897;0.897	T	0.10847	-1.0612	9	0.48119	T	0.1	.	1.1711	0.01826	0.2169:0.321:0.2991:0.163	.	307;359	E9PGB4;O00481	.;BT3A1_HUMAN	H	359;307	ENSP00000289361:Q359H;ENSP00000406667:Q307H	ENSP00000289361:Q359H	Q	+	3	2	BTN3A1	26521434	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.813000	0.00182	-0.729000	0.04875	-0.192000	0.12808	CAG		0.493	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			67	20	1	0	7.59065e-32	0.00361	1.51388e-31	67	20				
ZNF76	7629	broad.mit.edu	37	6	35260751	35260751	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:35260751A>T	ENST00000373953.3	+	11	1525	c.1259A>T	c.(1258-1260)cAg>cTg	p.Q420L	ZNF76_ENST00000440666.2_Missense_Mutation_p.Q394L|ZNF76_ENST00000339411.5_Missense_Mutation_p.Q420L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	420					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATCCCAGCCCAGGTGGCGATG	0.622																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1		NA																	0					0						c.(1258-1260)CAG>CTG		zinc finger protein 76 (expressed in testis)							77.0	89.0	85.0					6																	35260751		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35260751A>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1259A>T	6.37:g.35260751A>T	ENSP00000363064:p.Gln420Leu					ZNF76_uc003okj.1_Missense_Mutation_p.Q420L	p.Q420L	NM_003427	NP_003418	P36508	ZNF76_HUMAN			11	1464	+			420					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.1259A>T	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414599	0.62511	.	.	ENSG00000065029	ENST00000373953;ENST00000440666;ENST00000339411	T;T;T	0.10573	2.86;2.87;2.93	4.73	4.73	0.59995	.	0.000000	0.42821	D	0.000659	T	0.12008	0.0292	L	0.29908	0.895	0.46356	D	0.999002	D;P	0.57899	0.981;0.634	D;B	0.67900	0.954;0.204	T	0.02226	-1.1192	10	0.87932	D	0	.	11.7164	0.51655	1.0:0.0:0.0:0.0	.	420;420	P36508-2;P36508	.;ZNF76_HUMAN	L	420;394;420	ENSP00000363064:Q420L;ENSP00000392243:Q394L;ENSP00000344097:Q420L	ENSP00000344097:Q420L	Q	+	2	0	ZNF76	35368729	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.488000	0.73637	1.975000	0.57531	0.402000	0.26972	CAG		0.622	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		58	12	0	0	0	0.00361	0	58	12				
KCNK17	89822	broad.mit.edu	37	6	39271868	39271868	+	Missense_Mutation	SNP	G	G	T	rs539707399		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:39271868G>T	ENST00000373231.4	-	4	785	c.553C>A	c.(553-555)Ctc>Atc	p.L185I	KCNK17_ENST00000453413.2_Missense_Mutation_p.L185I	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	185					potassium ion transport (GO:0006813)|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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CCCGAGAGGAGGGCGCCAGAG	0.652																																							uc003ooo.2		NA																	0				skin(2)	2						c.(553-555)CTC>ATC		potassium channel, subfamily K, member 17							47.0	51.0	50.0					6																	39271868		2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39271868G>T	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.553C>A	6.37:g.39271868G>T	ENSP00000362328:p.Leu185Ile					KCNK17_uc003oop.2_Missense_Mutation_p.L185I	p.L185I	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN			4	693	-			185			Helical; (Potential).		E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.553C>A	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368864	0.24771	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.48522	1.56;0.81	4.21	3.31	0.37934	.	0.270254	0.25154	N	0.032735	T	0.27241	0.0668	L	0.37630	1.12	0.26272	N	0.978402	P;P	0.45986	0.87;0.87	P;P	0.47251	0.542;0.542	T	0.03453	-1.1035	10	0.32370	T	0.25	.	11.4663	0.50241	0.094:0.0:0.906:0.0	.	185;185	E9PB46;Q96T54	.;KCNKH_HUMAN	I	185	ENSP00000362328:L185I;ENSP00000401271:L185I	ENSP00000362328:L185I	L	-	1	0	KCNK17	39379846	0.999000	0.42202	0.671000	0.29857	0.016000	0.09150	1.315000	0.33608	2.166000	0.68216	0.561000	0.74099	CTC		0.652	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		19	4	1	0	1.22574e-08	0.002299	1.54465e-08	19	4				
NFYA	4800	broad.mit.edu	37	6	41058044	41058044	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:41058044G>T	ENST00000341376.6	+	6	744	c.543G>T	c.(541-543)caG>caT	p.Q181H	NFYA_ENST00000353205.5_Missense_Mutation_p.Q152H|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	181					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCATTCTCCAGCAAGGTAAGT	0.473																																							uc003opo.2		NA																	0					0						c.(541-543)CAG>CAT		nuclear transcription factor Y, alpha isoform 1							91.0	82.0	85.0					6																	41058044		2203	4300	6503	SO:0001583	missense	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41058044G>T		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.543G>T	6.37:g.41058044G>T	ENSP00000345702:p.Gln181His					NFYA_uc003opp.2_Missense_Mutation_p.Q152H|NFYA_uc003opq.2_Missense_Mutation_p.Q152H	p.Q181H	NM_002505	NP_002496	P23511	NFYA_HUMAN			6	721	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		181					Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	37	c.543G>T	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840422	0.71488	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.67	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.64830	0.994;0.989	D;P	0.67900	0.954;0.9	T	0.73509	-0.3960	9	0.87932	D	0	-12.4043	14.1545	0.65407	0.0721:0.0:0.9279:0.0	.	152;181	P23511-2;P23511	.;NFYA_HUMAN	H	181;152	.	ENSP00000345702:Q181H	Q	+	3	2	NFYA	41166022	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	0.402000	0.20965	1.539000	0.49286	0.655000	0.94253	CAG		0.473	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			23	4	1	0	1.64293e-13	0.00333	2.42691e-13	23	4				
PTCRA	171558	broad.mit.edu	37	6	42883861	42883861	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:42883861C>G	ENST00000304672.1	+	1	135	c.54C>G	c.(52-54)ccC>ccG	p.P18P	PTCRA_ENST00000441198.1_Silent_p.P18P|PTCRA_ENST00000446507.1_Silent_p.P18P	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	18					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CAGCCCTACCCACAGGTGAGC	0.642																																							uc003osx.2		NA																	0				ovary(2)	2						c.(52-54)CCC>CCG		pre T-cell antigen receptor alpha precursor							123.0	105.0	111.0					6																	42883861		2203	4300	6503	SO:0001819	synonymous_variant	171558					integral to membrane	receptor activity	g.chr6:42883861C>G	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.54C>G	6.37:g.42883861C>G						PTCRA_uc011duz.1_Missense_Mutation_p.H15D|PTCRA_uc010jxx.1_Silent_p.P18P|PTCRA_uc010jxy.2_Silent_p.P18P|PTCRA_uc010jxz.2_Silent_p.P18P	p.P18P	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		1	135	+	Colorectal(47;0.196)		18					Q5TFZ7	Silent	SNP	ENST00000304672.1	37	c.54C>G	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	8.917	0.960042	0.18507	.	.	ENSG00000171611	ENST00000418903	.	.	.	5.78	3.93	0.45458	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60510	-0.7249	5	0.87932	D	0	-18.289	9.0468	0.36352	0.1733:0.6713:0.1554:0.0	.	.	.	.	D	15	.	ENSP00000407061:H15D	H	+	1	0	PTCRA	42991839	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	0.874000	0.28065	0.733000	0.32492	0.563000	0.77884	CAC		0.642	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		18	7	0	0	0	0.010504	0	18	7				
PEX6	5190	broad.mit.edu	37	6	42934080	42934080	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:42934080C>A	ENST00000304611.8	-	11	2269	c.2200G>T	c.(2200-2202)Ggc>Tgc	p.G734C	PEX6_ENST00000244546.4_Intron	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	734					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|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;0.0562)			CGTCTCAGGCCCAGGCTCAGT	0.622																																							uc003otf.2		NA																	0				ovary(1)	1						c.(2200-2202)GGC>TGC		peroxisomal biogenesis factor 6							33.0	35.0	34.0					6																	42934080		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42934080C>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2200G>T	6.37:g.42934080C>A	ENSP00000303511:p.Gly734Cys					PEX6_uc010jya.2_Intron	p.G734C	NM_000287	NP_000278	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|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;0.0562)		11	2293	-			734					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.2200G>T	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175109	0.78564	.	.	ENSG00000124587	ENST00000304611	D	0.96011	-3.88	5.48	4.61	0.57282	.	0.044599	0.85682	D	0.000000	D	0.98365	0.9457	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99387	1.0924	10	0.87932	D	0	-26.9624	13.6753	0.62449	0.0:0.9252:0.0:0.0748	.	734	Q13608	PEX6_HUMAN	C	734	ENSP00000303511:G734C	ENSP00000303511:G734C	G	-	1	0	PEX6	43042058	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.453000	0.80700	1.306000	0.44926	0.557000	0.71058	GGC		0.622	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		15	2	1	0	6.72482e-11	0.003163	9.22558e-11	15	2				
PKHD1	5314	broad.mit.edu	37	6	51503728	51503728	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:51503728C>A	ENST00000371117.3	-	64	11700	c.11425G>T	c.(11425-11427)Ggt>Tgt	p.G3809C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3809					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTAACATAACCATCTTGAGTT	0.383																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11425-11427)GGT>TGT		fibrocystin isoform 1							144.0	144.0	144.0					6																	51503728		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51503728C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11425G>T	6.37:g.51503728C>A	ENSP00000360158:p.Gly3809Cys						p.G3809C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			64	11701	-	Lung NSC(77;0.0605)		3809			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11425G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298442	0.60195	.	.	ENSG00000170927	ENST00000371117	D	0.98400	-4.91	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	D	0.98273	0.9428	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97626	1.0139	10	0.21540	T	0.41	.	15.3204	0.74117	0.0:1.0:0.0:0.0	.	3809	P08F94	PKHD1_HUMAN	C	3809	ENSP00000360158:G3809C	ENSP00000360158:G3809C	G	-	1	0	PKHD1	51611687	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	3.927000	0.56499	2.680000	0.91292	0.585000	0.79938	GGT		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		45	92	1	0	1.32136e-16	0.00874	2.12611e-16	45	92				
PKHD1	5314	broad.mit.edu	37	6	51890206	51890206	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:51890206G>A	ENST00000371117.3	-	32	4677	c.4402C>T	c.(4402-4404)Cta>Tta	p.L1468L	PKHD1_ENST00000340994.4_Silent_p.L1468L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1468	IPT/TIG 9.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCGCTGGTTAGCCCATTGACC	0.547																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(4402-4404)CTA>TTA		fibrocystin isoform 1							57.0	53.0	55.0					6																	51890206		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890206G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4402C>T	6.37:g.51890206G>A						PKHD1_uc003pai.2_Silent_p.L1468L	p.L1468L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4678	-	Lung NSC(77;0.0605)		1468			IPT/TIG 9.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.4402C>T	CCDS4935.1																																																																																				0.547	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		15	35	0	0	0	0.00245	0	15	35				
MLIP	90523	broad.mit.edu	37	6	53989472	53989472	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:53989472G>T	ENST00000274897.5	+	3	534	c.421G>T	c.(421-423)Gct>Tct	p.A141S	MLIP_ENST00000502396.1_Missense_Mutation_p.A152S|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Missense_Mutation_p.A141S|MLIP_ENST00000358276.5_Missense_Mutation_p.A135S|MLIP_ENST00000509997.1_Missense_Mutation_p.A89S|MLIP_ENST00000370877.2_Missense_Mutation_p.A89S|MLIP_ENST00000370876.2_Missense_Mutation_p.A79S	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	141						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GGAAGATGAGGCTGCAAGCAG	0.512																																							uc003pcg.3		NA																	0					0						c.(421-423)GCT>TCT		hypothetical protein LOC90523							92.0	92.0	92.0					6																	53989472		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:53989472G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.421G>T	6.37:g.53989472G>T	ENSP00000274897:p.Ala141Ser					C6orf142_uc003pcf.2_Missense_Mutation_p.A141S|C6orf142_uc003pch.3_Missense_Mutation_p.A79S|C6orf142_uc011dwz.1_Missense_Mutation_p.A100S|C6orf142_uc011dxa.1_Missense_Mutation_p.A152S	p.A141S	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			3	534	+	Lung NSC(77;0.0317)		141					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.421G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857516	0.51376	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.68	2.94	0.34122	.	0.746887	0.12719	N	0.444842	T	0.37293	0.0998	L	0.54323	1.7	0.22511	N	0.999032	B;D;D;P;D	0.71674	0.194;0.989;0.998;0.82;0.986	B;P;D;B;P	0.63488	0.066;0.856;0.915;0.242;0.689	T	0.09796	-1.0658	9	.	.	.	-0.2996	7.0194	0.24907	0.2728:0.0:0.7272:0.0	.	152;152;79;141;141	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	S	141;141;89;89;79;23;23;100;152;135;23;142	ENSP00000274897:A141S;ENSP00000425142:A141S;ENSP00000359914:A89S;ENSP00000427584:A89S;ENSP00000359913:A79S;ENSP00000411917:A23S;ENSP00000427057:A23S;ENSP00000426830:A100S;ENSP00000426290:A152S;ENSP00000351019:A135S;ENSP00000421444:A142S	.	A	+	1	0	MLIP	54097431	0.887000	0.30362	0.586000	0.28679	0.963000	0.63663	1.175000	0.31944	0.750000	0.32877	-0.145000	0.13849	GCT		0.512	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		60	46	1	0	7.50695e-29	0.00361	1.47041e-28	60	46				
PHF3	23469	broad.mit.edu	37	6	64394326	64394326	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:64394326G>T	ENST00000262043.3	+	4	1043	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	PHF3_ENST00000509330.1_Missense_Mutation_p.D235Y|PHF3_ENST00000393387.1_Missense_Mutation_p.D235Y			Q92576	PHF3_HUMAN	PHD finger protein 3	235					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			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)			AGATGGATTAGATTCTAAGCA	0.363																																					GBM(135;136 1820 29512 34071 46235)	GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(703-705)GAT>TAT		PHD finger protein 3							116.0	105.0	109.0					6																	64394326		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394326G>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.703G>T	6.37:g.64394326G>T	ENSP00000262043:p.Asp235Tyr					PHF3_uc010kaf.1_Missense_Mutation_p.D235Y|PHF3_uc003pem.2_Missense_Mutation_p.D188Y|PHF3_uc010kag.1_Missense_Mutation_p.D147Y|PHF3_uc010kah.1_Missense_Mutation_p.D49Y|PHF3_uc003pen.2_Missense_Mutation_p.D147Y|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.D235Y	p.D235Y	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	729	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		235					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.703G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555032	0.13436	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.55413	1.93;1.46;1.86;1.5;0.52;1.86	5.73	4.86	0.63082	.	0.192459	0.25442	N	0.030655	T	0.43919	0.1269	L	0.54323	1.7	0.19575	N	0.999962	B;P	0.44429	0.451;0.835	B;P	0.47251	0.157;0.542	T	0.43972	-0.9358	10	0.87932	D	0	-5.591	15.8982	0.79350	0.0:0.1356:0.8644:0.0	.	235;235	Q92576;D6R9X2	PHF3_HUMAN;.	Y	49;147;235;188;235;235	ENSP00000424694:D49Y;ENSP00000425227:D147Y;ENSP00000262043:D235Y;ENSP00000424078:D188Y;ENSP00000422841:D235Y;ENSP00000377048:D235Y	ENSP00000262043:D235Y	D	+	1	0	PHF3	64452285	0.999000	0.42202	0.042000	0.18584	0.993000	0.82548	3.169000	0.50809	1.394000	0.46624	0.650000	0.86243	GAT		0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			21	67	1	0	4.35082e-09	0.010504	5.60177e-09	21	67				
BAI3	577	broad.mit.edu	37	6	69943233	69943233	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:69943233C>A	ENST00000370598.1	+	18	3353	c.2532C>A	c.(2530-2532)acC>acA	p.T844T	BAI3_ENST00000238918.8_Silent_p.T50T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	844	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGTGCTTACCGATGCATCCC	0.483																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2530-2532)ACC>ACA		brain-specific angiogenesis inhibitor 3							204.0	182.0	189.0					6																	69943233		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69943233C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2532C>A	6.37:g.69943233C>A						BAI3_uc010kak.2_Silent_p.T844T|BAI3_uc011dxx.1_Silent_p.T50T|BAI3_uc003pex.1_5'Flank	p.T844T	NM_001704	NP_001695	O60242	BAI3_HUMAN			18	2980	+		all_lung(197;0.212)	844			GPS.|Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.2532C>A	CCDS4968.1																																																																																				0.483	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			46	46	1	0	6.31075e-24	0.00361	1.1686e-23	46	46				
BAI3	577	broad.mit.edu	37	6	70064220	70064220	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:70064220G>T	ENST00000370598.1	+	27	4376	c.3555G>T	c.(3553-3555)atG>atT	p.M1185I	BAI3_ENST00000546190.1_Splice_Site_p.M149I|BAI3_ENST00000238918.8_Splice_Site_p.M391I	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1185					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTCAAATCATGGTGAGTTTTT	0.353																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3553-3555)ATG>ATT		brain-specific angiogenesis inhibitor 3							143.0	134.0	137.0					6																	70064220		2203	4300	6503	SO:0001630	splice_region_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70064220G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3555+1G>T	6.37:g.70064220G>T						BAI3_uc010kak.2_Missense_Mutation_p.M1185I|BAI3_uc011dxx.1_Missense_Mutation_p.M391I	p.M1185I	NM_001704	NP_001695	O60242	BAI3_HUMAN			27	4003	+		all_lung(197;0.212)	1185			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3555G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817725	0.71028	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.48836	1.94;2.55;0.8	5.32	5.32	0.75619	.	0.072732	0.85682	D	0.000000	T	0.35451	0.0932	M	0.64404	1.975	0.58432	D	0.999999	B;B	0.26318	0.118;0.146	B;B	0.24974	0.026;0.057	T	0.17258	-1.0375	10	0.27785	T	0.31	.	19.3592	0.94428	0.0:0.0:1.0:0.0	.	391;1185	B7Z356;O60242	.;BAI3_HUMAN	I	1185;391;149	ENSP00000359630:M1185I;ENSP00000238918:M391I;ENSP00000441821:M149I	ENSP00000238918:M391I	M	+	3	0	BAI3	70120941	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.399000	0.97285	2.652000	0.90054	0.591000	0.81541	ATG		0.353	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Missense_Mutation	32	5	1	0	6.38683e-12	0.008361	9.06764e-12	32	5				
RIMS1	22999	broad.mit.edu	37	6	72889554	72889554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:72889554C>T	ENST00000521978.1	+	5	748	c.748C>T	c.(748-750)Caa>Taa	p.Q250*	RIMS1_ENST00000520567.1_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.Q250*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.Q250*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	250					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCCTCGCAGCAAGCCTTGGG	0.572																																							uc003pga.2		NA																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(748-750)CAA>TAA		regulating synaptic membrane exocytosis 1							32.0	36.0	35.0					6																	72889554		2059	4205	6264	SO:0001587	stop_gained	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889554C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.748C>T	6.37:g.72889554C>T	ENSP00000428417:p.Gln250*					RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank	p.Q250*	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			5	825	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	250					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.748C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194793	0.58017	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	.	.	.	5.89	2.8	0.32819	.	0.610813	0.15916	N	0.238377	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.1041	11.0443	0.47849	0.2435:0.6908:0.0:0.0657	.	.	.	.	X	250	.	ENSP00000264839:Q250X	Q	+	1	0	RIMS1	72946275	1.000000	0.71417	0.461000	0.27105	0.168000	0.22595	2.624000	0.46444	0.799000	0.34018	0.655000	0.94253	CAA		0.572	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			15	3	0	0	0	0.00245	0	15	3				
OOEP	441161	broad.mit.edu	37	6	74079001	74079001	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:74079001G>C	ENST00000370359.5	-	2	297	c.298C>G	c.(298-300)Ccc>Gcc	p.P100A	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Missense_Mutation_p.P45A	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	100	KH; atypical.				cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTACACGGGGCCGCCCGAAA	0.562																																							uc003pgu.3		NA																	0					0						c.(298-300)CCC>GCC		oocyte expressed protein homolog							56.0	56.0	56.0					6																	74079001		1981	4153	6134	SO:0001583	missense	441161					cytoplasm		g.chr6:74079001G>C	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.298C>G	6.37:g.74079001G>C	ENSP00000359384:p.Pro100Ala					OOEP_uc003pgv.3_Missense_Mutation_p.P45A	p.P100A	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			2	298	-			100			KH; atypical.		A6NIN5|A9UIB7	Missense_Mutation	SNP	ENST00000370359.5	37	c.298C>G	CCDS47451.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306905	0.40795	.	.	ENSG00000203907	ENST00000370363;ENST00000370359;ENST00000441145	T;T;T	0.13196	2.61;2.61;2.61	3.93	2.15	0.27550	.	0.148996	0.31884	N	0.006905	T	0.08358	0.0208	M	0.73962	2.25	0.09310	N	1	P;P	0.46064	0.872;0.869	B;P	0.44647	0.395;0.456	T	0.08994	-1.0695	10	0.66056	D	0.02	-18.6361	6.2153	0.20651	0.227:0.0:0.773:0.0	.	45;100	F2Z364;A6NGQ2	.;OOEP_HUMAN	A	45;100;45	ENSP00000359388:P45A;ENSP00000359384:P100A;ENSP00000397430:P45A	ENSP00000359384:P100A	P	-	1	0	OOEP	74135722	0.264000	0.24093	0.003000	0.11579	0.004000	0.04260	2.491000	0.45303	0.637000	0.30526	-0.150000	0.13652	CCC		0.562	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		12	6	0	0	0	0.00499	0	12	6				
EEF1A1	1915	broad.mit.edu	37	6	74229077	74229077	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:74229077T>G	ENST00000316292.9	-	2	1298	c.307A>C	c.(307-309)Att>Ctt	p.I103L	EEF1A1_ENST00000309268.6_Missense_Mutation_p.I103L|EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I103L	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	103	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTCCCTGTAATCATGTTTTTG	0.398											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003phi.2		NA																	0					0						c.(307-309)ATT>CTT		eukaryotic translation elongation factor 1 alpha							115.0	130.0	125.0					6																	74229077		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229077T>G	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.307A>C	6.37:g.74229077T>G	ENSP00000339063:p.Ile103Leu		OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.I103L|EEF1A1_uc003phf.2_Missense_Mutation_p.I103L|EEF1A1_uc003phg.2_Missense_Mutation_p.I103L|EEF1A1_uc003phh.2_Intron|EEF1A1_uc003phj.2_Missense_Mutation_p.I103L|EEF1A1_uc003phk.2_Missense_Mutation_p.I103L|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	p.I103L	NM_001402	NP_001393	P68104	EF1A1_HUMAN			2	344	-			103					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.307A>C	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715554	0.48622	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000356303;ENST00000455918	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	4.45	4.45	0.53987	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.67249	0.2873	L	0.58354	1.805	0.80722	D	1	B;B;B;B	0.32543	0.252;0.252;0.252;0.375	P;P;P;P	0.45138	0.471;0.471;0.471;0.471	T	0.74074	-0.3782	10	0.87932	D	0	.	14.102	0.65062	0.0:0.0:0.0:1.0	.	103;103;103;103	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	L	103	ENSP00000339063:I103L;ENSP00000339053:I103L;ENSP00000330054:I103L;ENSP00000348651:I103L;ENSP00000392366:I103L	ENSP00000339053:I103L	I	-	1	0	EEF1A1	74285798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.381000	0.79718	1.789000	0.52484	0.449000	0.29647	ATT		0.398	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		3	49	0	0	0	0.004672	0	3	49				
COL12A1	1303	broad.mit.edu	37	6	75811368	75811368	+	Splice_Site	SNP	C	C	A	rs144284766		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:75811368C>A	ENST00000322507.8	-	58	8780	c.8471G>T	c.(8470-8472)gGa>gTa	p.G2824V	COL12A1_ENST00000483888.2_Splice_Site_p.G2824V|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000416123.2_Splice_Site_p.G2748V|COL12A1_ENST00000345356.6_Splice_Site_p.G1660V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2824	Collagen-like 2.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G2824E(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCCTGGGGTTCCCTGCACAGA	0.403																																							uc003phs.2		NA																	1	Substitution - Missense(1)	p.G2824E(1)	skin(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8470-8472)GGA>GTA		collagen, type XII, alpha 1 long isoform							85.0	81.0	82.0					6																	75811368		1848	4109	5957	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75811368C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8470-1G>T	6.37:g.75811368C>A						COL12A1_uc003pht.2_Missense_Mutation_p.G1660V	p.G2824V	NM_004370	NP_004361	Q99715	COCA1_HUMAN			58	8637	-			2824			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8471G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899255	0.52227	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29	5.68	5.68	0.88126	.	0.058968	0.64402	D	0.000003	D	0.99846	0.9929	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96854	0.9627	10	0.87932	D	0	.	19.778	0.96402	0.0:1.0:0.0:0.0	.	1660;2824	Q99715-2;Q99715	.;COCA1_HUMAN	V	2824;462;2748;1660;2748;2824	ENSP00000325146:G2824V;ENSP00000399812:G462V;ENSP00000305147:G1660V;ENSP00000412864:G2748V;ENSP00000421216:G2824V	ENSP00000325146:G2824V	G	-	2	0	COL12A1	75868088	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	6.815000	0.75242	2.677000	0.91161	0.561000	0.74099	GGA		0.403	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Missense_Mutation	20	2	1	0	0.000229342	0.001882	0.000251217	20	2				
COL12A1	1303	broad.mit.edu	37	6	75847209	75847209	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:75847209C>A	ENST00000322507.8	-	31	5647	c.5338G>T	c.(5338-5340)Gtg>Ttg	p.V1780L	COL12A1_ENST00000483888.2_Missense_Mutation_p.V1780L|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1780L|COL12A1_ENST00000345356.6_Missense_Mutation_p.V616L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1780	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATTTCTGCACACGACCACTA	0.403																																							uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(5338-5340)GTG>TTG		collagen, type XII, alpha 1 long isoform							76.0	71.0	73.0					6																	75847209		1868	4102	5970	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75847209C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5338G>T	6.37:g.75847209C>A	ENSP00000325146:p.Val1780Leu					COL12A1_uc003pht.2_Missense_Mutation_p.V616L	p.V1780L	NM_004370	NP_004361	Q99715	COCA1_HUMAN			31	5504	-			1780			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5338G>T	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.536562|4.536562	0.85812|0.85812	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.70378|0.70378	0.3217|0.3217	M|M	0.79693|0.79693	2.465|2.465	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.67145	.|0.991;0.996	.|P;D	.|0.68192	.|0.894;0.956	T|T	0.74169|0.74169	-0.3752|-0.3752	5|10	.|0.72032	.|D	.|0.01	.|.	19.3409|19.3409	0.94340|0.94340	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|616;1780	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	F|L	514|1780;1780;616;1780;1780	.|ENSP00000325146:V1780L;ENSP00000305147:V616L;ENSP00000412864:V1780L;ENSP00000421216:V1780L	.|ENSP00000325146:V1780L	C|V	-|-	2|1	0|0	COL12A1|COL12A1	75903929|75903929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	7.323000|7.323000	0.79105|0.79105	2.633000|2.633000	0.89246|0.89246	0.591000|0.591000	0.81541|0.81541	TGT|GTG		0.403	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		10	3	1	0	0.00829132	0.008291	0.00865604	10	3				
FILIP1	27145	broad.mit.edu	37	6	76023481	76023481	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:76023481G>T	ENST00000237172.7	-	5	2397	c.2067C>A	c.(2065-2067)gcC>gcA	p.A689A	FILIP1_ENST00000370020.1_Silent_p.A590A|FILIP1_ENST00000393004.2_Silent_p.A689A|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	689										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTTATTCTTGGCAATTTGGT	0.433																																							uc003pia.2		NA																	0				skin(3)|ovary(1)	4						c.(2065-2067)GCC>GCA		filamin A interacting protein 1							213.0	213.0	213.0					6																	76023481		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76023481G>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2067C>A	6.37:g.76023481G>T						FILIP1_uc003phy.1_Silent_p.A689A|FILIP1_uc003phz.2_Silent_p.A590A|FILIP1_uc010kbe.2_Silent_p.A692A|FILIP1_uc003pib.1_Silent_p.A441A	p.A689A	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2440	-			689			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.2067C>A	CCDS4984.1																																																																																				0.433	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		89	22	1	0	7.28744e-38	0.00361	1.49961e-37	89	22				
SLC22A16	85413	broad.mit.edu	37	6	110778140	110778140	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:110778140C>G	ENST00000368919.3	-	2	200	c.134G>C	c.(133-135)gGa>gCa	p.G45A	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.G45A|SLC22A16_ENST00000439654.1_Missense_Mutation_p.G45A|SLC22A16_ENST00000330550.4_Missense_Mutation_p.G43A	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	45					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	AGGGGTGACTCCCATGAACAC	0.478																																							uc003puf.2		NA																	0				ovary(1)	1						c.(133-135)GGA>GCA		solute carrier family 22, member 16							65.0	68.0	67.0					6																	110778140		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110778140C>G		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.134G>C	6.37:g.110778140C>G	ENSP00000357915:p.Gly45Ala					SLC22A16_uc003pue.2_Missense_Mutation_p.G58A|SLC22A16_uc003pug.2_Missense_Mutation_p.G45A	p.G45A	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	201	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	45					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.134G>C	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.282372	0.01398	.	.	ENSG00000004809	ENST00000368919;ENST00000330550;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	D;T;D;T;D;T	0.81996	-1.56;0.09;-1.56;0.09;-1.56;0.09	4.63	1.41	0.22369	.	0.801655	0.11465	N	0.561349	T	0.31295	0.0792	N	0.02854	-0.475	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.41088	-0.9528	10	0.02654	T	1	.	8.4406	0.32812	0.1051:0.1588:0.7362:0.0	.	45;43	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	A	45;43;45;2;45;2	ENSP00000357915:G45A;ENSP00000328583:G43A;ENSP00000408799:G45A;ENSP00000416310:G2A;ENSP00000402111:G45A;ENSP00000401007:G2A	ENSP00000328583:G43A	G	-	2	0	SLC22A16	110884833	0.987000	0.35691	0.000000	0.03702	0.056000	0.15407	2.648000	0.46647	-0.052000	0.13311	-0.521000	0.04368	GGA		0.478	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		31	7	0	0	0	0.002836	0	31	7				
LAMA4	3910	broad.mit.edu	37	6	112480078	112480078	+	Missense_Mutation	SNP	G	G	T	rs137893207		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:112480078G>T	ENST00000230538.7	-	14	2070	c.1673C>A	c.(1672-1674)gCg>gAg	p.A558E	LAMA4_ENST00000522006.1_Missense_Mutation_p.A551E|LAMA4_ENST00000424408.2_Missense_Mutation_p.A551E|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.A551E|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	558	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.A551V(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATCCCTGACGCATTCTAAAG	0.303																																							uc003pvu.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1672-1674)GCG>GAG		laminin, alpha 4 isoform 1 precursor							95.0	86.0	89.0					6																	112480078		2202	4300	6502	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112480078G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1673C>A	6.37:g.112480078G>T	ENSP00000230538:p.Ala558Glu					LAMA4_uc003pvv.2_Missense_Mutation_p.A551E|LAMA4_uc003pvt.2_Missense_Mutation_p.A551E	p.A558E	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	1982	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	558			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1673C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630674	0.46944	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.14640	2.51;2.49;2.49;2.49	5.68	5.68	0.88126	.	0.251709	0.39210	N	0.001423	T	0.10723	0.0262	L	0.36672	1.1	0.80722	D	1	P;P	0.47191	0.826;0.891	B;P	0.47015	0.266;0.534	T	0.01574	-1.1321	10	0.52906	T	0.07	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	558;551	Q16363;Q16363-2	LAMA4_HUMAN;.	E	558;551;551;551	ENSP00000230538:A558E;ENSP00000429488:A551E;ENSP00000374114:A551E;ENSP00000416470:A551E	ENSP00000230538:A558E	A	-	2	0	LAMA4	112586771	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.197000	0.42696	2.668000	0.90789	0.591000	0.81541	GCG		0.303	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		14	3	1	0	1.5842e-08	0.001855	1.99285e-08	14	3				
GPRC6A	222545	broad.mit.edu	37	6	117121858	117121858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:117121858C>T	ENST00000310357.3	-	4	1458	c.1437G>A	c.(1435-1437)tgG>tgA	p.W479*	GPRC6A_ENST00000530250.1_Nonsense_Mutation_p.W304*|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	479					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGATCTCCTTCCAGAGCACAA	0.383																																							uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(1435-1437)TGG>TGA		G protein-coupled receptor, family C, group 6,							173.0	153.0	159.0					6																	117121858		2203	4300	6503	SO:0001587	stop_gained	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117121858C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1437G>A	6.37:g.117121858C>T	ENSP00000309493:p.Trp479*					GPRC6A_uc003pxk.1_Nonsense_Mutation_p.W304*|GPRC6A_uc003pxl.1_Intron	p.W479*	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	4	1459	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	479			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Nonsense_Mutation	SNP	ENST00000310357.3	37	c.1437G>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	37	6.199747	0.97371	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	.	.	.	5.45	5.45	0.79879	.	0.000000	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4672	0.94948	0.0:1.0:0.0:0.0	.	.	.	.	X	479;304	.	ENSP00000309493:W479X	W	-	3	0	GPRC6A	117228551	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.556000	0.73932	2.833000	0.97629	0.585000	0.79938	TGG		0.383	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			43	10	0	0	0	0.007835	0	43	10				
HSF2	3298	broad.mit.edu	37	6	122744005	122744005	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:122744005A>T	ENST00000368455.4	+	9	1165	c.973A>T	c.(973-975)Agt>Tgt	p.S325C	HSF2_ENST00000452194.1_Missense_Mutation_p.S325C	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	325					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TCTCATGTCTAGTGCTGTCCA	0.463																																							uc003pyu.2		NA																	0					0						c.(973-975)AGT>TGT		heat shock transcription factor 2 isoform a							109.0	88.0	95.0					6																	122744005		2203	4300	6503	SO:0001583	missense	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122744005A>T	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.973A>T	6.37:g.122744005A>T	ENSP00000357440:p.Ser325Cys					HSF2_uc003pyv.2_Missense_Mutation_p.S325C	p.S325C	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	9	1160	+			325					B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	c.973A>T	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876831	0.72180	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.51	4.35	0.52113	Vertebrate heat shock transcription factor (1);	0.185701	0.56097	D	0.000027	T	0.56543	0.1992	L	0.55481	1.735	0.53688	D	0.999979	D;D	0.65815	0.995;0.994	P;P	0.59288	0.849;0.855	T	0.59332	-0.7474	9	0.49607	T	0.09	-6.8541	11.1105	0.48230	0.9277:0.0:0.0723:0.0	.	325;325	Q03933-2;Q03933	.;HSF2_HUMAN	C	325	.	ENSP00000357440:S325C	S	+	1	0	HSF2	122785704	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.809000	0.69172	2.225000	0.72522	0.533000	0.62120	AGT		0.463	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		22	8	0	0	0	0.001882	0	22	8				
TAAR6	319100	broad.mit.edu	37	6	132891991	132891991	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:132891991G>T	ENST00000275198.1	+	1	531	c.531G>T	c.(529-531)ctG>ctT	p.L177L		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	177					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)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		ACGATGGGCTGGAGGAATTAT	0.463																																							uc011eck.1		NA																	0				ovary(2)|skin(1)	3						c.(529-531)CTG>CTT		trace amine associated receptor 6							186.0	187.0	187.0					6																	132891991		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891991G>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.531G>T	6.37:g.132891991G>T							p.L177L	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	531	+	Breast(56;0.112)		177			Extracellular (Potential).		Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.531G>T	CCDS5155.1																																																																																				0.463	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		87	10	1	0	7.63117e-38	0.00361	1.56808e-37	87	10				
EYA4	2070	broad.mit.edu	37	6	133833917	133833917	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:133833917G>T	ENST00000367895.5	+	15	1804	c.1340G>T	c.(1339-1341)aGt>aTt	p.S447I	EYA4_ENST00000431403.2_Splice_Site_p.S447I|EYA4_ENST00000531901.1_Splice_Site_p.S453I|EYA4_ENST00000430974.2_Splice_Site_p.S399I|EYA4_ENST00000452339.2_Splice_Site_p.S393I|EYA4_ENST00000525849.1_Splice_Site_p.S424I|EYA4_ENST00000355167.3_Splice_Site_p.S447I|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000355286.6_Splice_Site_p.S424I|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	447					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGGACTTAAGGTAAGCTATG	0.338																																					Melanoma(57;398 1237 3528 4702 7415)	Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(1339-1341)AGT>ATT		eyes absent 4 isoform a							183.0	178.0	180.0					6																	133833917		2203	4300	6503	SO:0001630	splice_region_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133833917G>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1340+1G>T	6.37:g.133833917G>T						EYA4_uc011ecq.1_Missense_Mutation_p.S393I|EYA4_uc011ecr.1_Missense_Mutation_p.S399I|EYA4_uc003qed.3_Missense_Mutation_p.S447I|EYA4_uc003qee.3_Missense_Mutation_p.S424I|EYA4_uc011ecs.1_Missense_Mutation_p.S453I|uc003qeg.1_Intron	p.S447I	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	15	1798	+	Colorectal(23;0.221)		447					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1340G>T	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649044	0.87958	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.4	5.4	0.78164	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.035459	0.85682	D	0.000000	D	0.90783	0.7106	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D;D	0.71674	0.989;0.998;0.995;0.995;0.994;0.989	P;D;P;P;D;P	0.64042	0.861;0.921;0.735;0.803;0.921;0.886	D	0.91619	0.5309	10	0.87932	D	0	-17.1673	19.5366	0.95255	0.0:0.0:1.0:0.0	.	453;399;393;424;447;447	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	I	393;399;447;447;424;453;424;447	ENSP00000395916:S393I;ENSP00000388670:S399I;ENSP00000356870:S447I;ENSP00000347294:S447I;ENSP00000347434:S424I;ENSP00000432770:S453I;ENSP00000433219:S424I;ENSP00000404558:S447I	ENSP00000347294:S447I	S	+	2	0	EYA4	133875610	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.386000	0.97228	2.689000	0.91719	0.650000	0.86243	AGT		0.338	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	Missense_Mutation	46	13	1	0	8.04919e-23	0.00361	1.462e-22	46	13				
EYA4	2070	broad.mit.edu	37	6	133844274	133844274	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:133844274G>C	ENST00000367895.5	+	18	2161	c.1697G>C	c.(1696-1698)gGt>gCt	p.G566A	EYA4_ENST00000431403.2_Missense_Mutation_p.G566A|EYA4_ENST00000531901.1_Missense_Mutation_p.G572A|EYA4_ENST00000430974.2_Missense_Mutation_p.G518A|EYA4_ENST00000452339.2_Missense_Mutation_p.G512A|EYA4_ENST00000525849.1_Missense_Mutation_p.G543A|EYA4_ENST00000355167.3_Missense_Mutation_p.G566A|EYA4_ENST00000355286.6_Missense_Mutation_p.G543A|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	566					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGTTTAGGAGGTGCTTTCCCC	0.383																																					Melanoma(57;398 1237 3528 4702 7415)	Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(1696-1698)GGT>GCT		eyes absent 4 isoform a							126.0	123.0	124.0					6																	133844274		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133844274G>C	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1697G>C	6.37:g.133844274G>C	ENSP00000356870:p.Gly566Ala					EYA4_uc011ecq.1_Missense_Mutation_p.G512A|EYA4_uc011ecr.1_Missense_Mutation_p.G518A|EYA4_uc003qed.3_Missense_Mutation_p.G566A|EYA4_uc003qee.3_Missense_Mutation_p.G543A|EYA4_uc011ecs.1_Missense_Mutation_p.G572A|uc003qeg.1_Intron	p.G566A	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	18	2155	+	Colorectal(23;0.221)		566					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1697G>C	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413204	0.25465	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.97186	-4.28;-2.41;-2.53;-4.28;-2.52;-4.28;-4.28;-4.28	5.86	4.99	0.66335	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.247653	0.48286	D	0.000190	D	0.91023	0.7176	L	0.36672	1.1	0.45946	D	0.998777	B;B;B;B;B;B	0.12013	0.0;0.0;0.005;0.005;0.0;0.0	B;B;B;B;B;B	0.14023	0.005;0.007;0.01;0.006;0.007;0.003	D	0.88314	0.2958	10	0.15066	T	0.55	-13.4083	17.3856	0.87415	0.0:0.1249:0.8751:0.0	.	572;518;512;543;566;566	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	A	512;518;566;566;543;572;543;566	ENSP00000395916:G512A;ENSP00000388670:G518A;ENSP00000356870:G566A;ENSP00000347294:G566A;ENSP00000347434:G543A;ENSP00000432770:G572A;ENSP00000433219:G543A;ENSP00000404558:G566A	ENSP00000347294:G566A	G	+	2	0	EYA4	133885967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.286000	0.58995	1.612000	0.50221	0.650000	0.86243	GGT		0.383	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		42	7	0	0	0	0.006999	0	42	7				
OLIG3	167826	broad.mit.edu	37	6	137814589	137814589	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:137814589G>T	ENST00000367734.2	-	1	942	c.719C>A	c.(718-720)cCc>cAc	p.P240H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	240					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GATGGTGCAGGGGCAGGGCAG	0.701																																							uc003qhp.1		NA																	0					0						c.(718-720)CCC>CAC		oligodendrocyte transcription factor 3							8.0	10.0	9.0					6																	137814589		2142	4218	6360	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814589G>T	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.719C>A	6.37:g.137814589G>T	ENSP00000356708:p.Pro240His						p.P240H	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	943	-	Breast(32;0.165)|Colorectal(23;0.24)		240					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.719C>A	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153009	0.78001	.	.	ENSG00000177468	ENST00000367734	D	0.99709	-6.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.98576	1.0648	10	0.87932	D	0	-0.2048	18.5888	0.91200	0.0:0.0:1.0:0.0	.	240	Q7RTU3	OLIG3_HUMAN	H	240	ENSP00000356708:P240H	ENSP00000356708:P240H	P	-	2	0	OLIG3	137856282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.447000	0.66606	2.619000	0.88677	0.650000	0.86243	CCC		0.701	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		9	2	1	0	0.000274275	0.004482	0.000296559	9	2				
HECA	51696	broad.mit.edu	37	6	139498103	139498103	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:139498103G>T	ENST00000367658.2	+	4	1778	c.1493G>T	c.(1492-1494)gGg>gTg	p.G498V	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	498					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AAGCACTGTGGGAAGCCGGTG	0.537																																							uc003qin.2		NA																	0					0						c.(1492-1494)GGG>GTG		headcase							134.0	111.0	119.0					6																	139498103		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139498103G>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1493G>T	6.37:g.139498103G>T	ENSP00000356630:p.Gly498Val						p.G498V	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	4	1778	+			498						Missense_Mutation	SNP	ENST00000367658.2	37	c.1493G>T	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824362	0.71143	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.67988	0.2952	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57814	-0.7746	9	0.18276	T	0.48	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	498	Q9UBI9	HDC_HUMAN	V	498	.	ENSP00000356630:G498V	G	+	2	0	HECA	139539796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	GGG		0.537	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		11	5	1	0	3.07112e-06	0.000978	3.59348e-06	11	5				
GRM1	2911	broad.mit.edu	37	6	146351269	146351270	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:146351269_146351270CC>AG	ENST00000282753.1	+	1	851_852	c.616_617CC>AG	c.(616-618)CCt>AGt	p.P206S	GRM1_ENST00000392299.2_Missense_Mutation_p.P206S|GRM1_ENST00000507907.1_Missense_Mutation_p.P206S|GRM1_ENST00000361719.2_Missense_Mutation_p.P206S|GRM1_ENST00000492807.2_Missense_Mutation_p.P206S|GRM1_ENST00000355289.4_Missense_Mutation_p.P206S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	206					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GAGGGTTGTCCCTTCTGACACT	0.48																																							uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(616-618)CCT>AGT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351269_146351270CC>AG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	Exception_encountered	6.37:g.146351269_146351270delinsAG	ENSP00000282753:p.Pro206Ser					GRM1_uc010khu.1_Missense_Mutation_p.P206S|GRM1_uc010khv.1_Missense_Mutation_p.P206S|GRM1_uc003qll.2_Missense_Mutation_p.P206S|GRM1_uc011edz.1_Missense_Mutation_p.P206S|GRM1_uc011eea.1_Missense_Mutation_p.P206S	p.P206S	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	1086_1087	+		Ovarian(120;0.0387)	206			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	DNP	ENST00000282753.1	37	c.616_617CC>AG	CCDS5209.1																																																																																				0.480	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		33	5	0	0	0	0.004672	0	33	5				
ESR1	2099	broad.mit.edu	37	6	152265379	152265379	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:152265379G>T	ENST00000206249.3	+	4	1194	c.832G>T	c.(832-834)Ggt>Tgt	p.G278C	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_Missense_Mutation_p.G105C|ESR1_ENST00000338799.5_Missense_Mutation_p.G278C|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.G278C|ESR1_ENST00000440973.1_Missense_Mutation_p.G278C	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	278	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.|Self-association.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GGAGGGCAGGGGTGAAGTGGG	0.517																																							uc003qom.3		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(832-834)GGT>TGT		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						100.0	103.0	102.0					6																	152265379		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152265379G>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.832G>T	6.37:g.152265379G>T	ENSP00000206249:p.Gly278Cys					ESR1_uc010kin.2_Missense_Mutation_p.G278C|ESR1_uc010kio.2_Missense_Mutation_p.G280C|ESR1_uc010kip.2_Missense_Mutation_p.G277C|ESR1_uc003qon.3_Missense_Mutation_p.G278C|ESR1_uc003qoo.3_Missense_Mutation_p.G278C|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Missense_Mutation_p.G59C|ESR1_uc010kit.1_Missense_Mutation_p.G15C|ESR1_uc011eey.1_Missense_Mutation_p.G15C	p.G278C	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	6	1202	+		Ovarian(120;0.0448)	278			Interaction with AKAP13.|Hinge.|Mediates interaction with DNTTIP2.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.832G>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634882	0.29068	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394	D;D;D;D;D	0.93426	-3.11;-3.11;-3.11;-3.11;-3.22	5.66	1.78	0.24846	Nuclear hormone receptor, ligand-binding (1);	0.552458	0.21356	N	0.075891	T	0.80984	0.4729	N	0.19112	0.55	0.22378	N	0.999153	P;P;B;P;P;P	0.47841	0.901;0.822;0.385;0.667;0.648;0.517	P;P;B;B;P;B	0.46850	0.497;0.529;0.046;0.264;0.451;0.264	T	0.75634	-0.3250	10	0.52906	T	0.07	.	7.2659	0.26229	0.7627:0.1259:0.1114:0.0	.	182;59;20;277;278;278	B0QYW6;E7EVR3;Q9Y2W8;A8KAF4;G4XH65;P03372	.;.;.;.;.;ESR1_HUMAN	C	278;278;59;278;278;206;105	ENSP00000405330:G278C;ENSP00000342630:G278C;ENSP00000387500:G278C;ENSP00000206249:G278C;ENSP00000445454:G105C	ENSP00000206249:G278C	G	+	1	0	ESR1	152307072	0.977000	0.34250	0.212000	0.23672	0.561000	0.35649	2.468000	0.45102	0.088000	0.17205	-0.982000	0.02568	GGT		0.517	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			42	5	1	0	1.06522e-23	0.003214	1.96486e-23	42	5				
SNX9	51429	broad.mit.edu	37	6	158349650	158349650	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:158349650G>T	ENST00000392185.3	+	12	1375	c.1204G>T	c.(1204-1206)Gtg>Ttg	p.V402L		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	402	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GTGCGAGGCTGTGGGGAAGTT	0.592																																							uc003qqv.1		NA																	0					0						c.(1204-1206)GTG>TTG		sorting nexin 9							57.0	41.0	46.0					6																	158349650		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158349650G>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1204G>T	6.37:g.158349650G>T	ENSP00000376024:p.Val402Leu						p.V402L	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	12	1377	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	402			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1204G>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684221	0.29872	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.37235	1.21	5.02	5.02	0.67125	Sorting nexin protein, WASP-binding domain (1);	0.061934	0.64402	D	0.000004	T	0.19406	0.0466	N	0.14661	0.345	0.53005	D	0.999969	P	0.35011	0.48	B	0.41174	0.349	T	0.18147	-1.0346	10	0.56958	D	0.05	-33.6556	18.3207	0.90237	0.0:0.0:1.0:0.0	.	402	Q9Y5X1	SNX9_HUMAN	L	402;402;202	ENSP00000376024:V402L	ENSP00000252631:V202L	V	+	1	0	SNX9	158269638	1.000000	0.71417	0.168000	0.22838	0.099000	0.18886	6.902000	0.75699	1.886000	0.54624	0.460000	0.39030	GTG		0.592	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			9	4	1	0	1.12685e-05	0.004482	1.28783e-05	9	4				
FNDC1	84624	broad.mit.edu	37	6	159654110	159654110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:159654110C>T	ENST00000297267.9	+	11	2766	c.2566C>T	c.(2566-2568)Cga>Tga	p.R856*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.R793*	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	856					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTGCCCTCCCGAGCCCACCC	0.622																																							uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2566-2568)CGA>TGA		fibronectin type III domain containing 1							21.0	27.0	25.0					6																	159654110		1964	4146	6110	SO:0001587	stop_gained	84624					extracellular region		g.chr6:159654110C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2566C>T	6.37:g.159654110C>T	ENSP00000297267:p.Arg856*					FNDC1_uc010kjw.1_Nonsense_Mutation_p.R741*	p.R856*	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2766	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	856					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Nonsense_Mutation	SNP	ENST00000297267.9	37	c.2566C>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.060938|7.060938	0.98036|0.98036	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|.	.|.	.|.	4.0|4.0	2.07|2.07	0.26955|0.26955	.|.	.|1.523810	.|0.03572	.|N	.|0.228810	T|.	0.04452|.	0.0122|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16335|.	-1.0406|.	3|.	.|0.02654	.|T	.|1	-1.613|-1.613	8.6573|8.6573	0.34071|0.34071	0.4333:0.5667:0.0:0.0|0.4333:0.5667:0.0:0.0	.|.	.|.	.|.	.|.	L|X	751|856;793	.|.	.|ENSP00000297267:R856X	P|R	+|+	2|1	0|2	FNDC1|FNDC1	159574100|159574100	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.024000|0.024000	0.10985|0.10985	-0.091000|-0.091000	0.11146|0.11146	0.566000|0.566000	0.29273|0.29273	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		6	1	0	0	0	0.001984	0	6	1				
FNDC1	84624	broad.mit.edu	37	6	159687132	159687132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:159687132G>A	ENST00000297267.9	+	21	5501	c.5301G>A	c.(5299-5301)tgG>tgA	p.W1767*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.W1704*	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1767					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCTATCTGGATCCCATTCG	0.493																																							uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(5299-5301)TGG>TGA		fibronectin type III domain containing 1							114.0	111.0	112.0					6																	159687132		2019	4181	6200	SO:0001587	stop_gained	84624					extracellular region		g.chr6:159687132G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5301G>A	6.37:g.159687132G>A	ENSP00000297267:p.Trp1767*						p.W1767*	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	21	5501	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1767					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Nonsense_Mutation	SNP	ENST00000297267.9	37	c.5301G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.467501|13.467501	0.99744|0.99744	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|.	.|.	.|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.131007	.|0.56097	.|D	.|0.000024	T|.	0.75752|.	0.3892|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72763|.	-0.4195|.	3|.	.|.	.|.	.|.	-18.1443|-18.1443	20.2187|20.2187	0.98312|0.98312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	1663|1767;1704	.|.	.|.	D|W	+|+	1|3	0|0	FNDC1|FNDC1	159607122|159607122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.751000|9.751000	0.98889|0.98889	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.493	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		16	4	0	0	0	0.006122	0	16	4				
C6orf118	168090	broad.mit.edu	37	6	165712974	165712974	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:165712974G>T	ENST00000230301.8	-	4	914	c.894C>A	c.(892-894)taC>taA	p.Y298*	C6orf118_ENST00000543069.1_Nonsense_Mutation_p.Y194*	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	298										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCGTTGCCATGTAGAGTTCAT	0.463																																							uc003qum.3		NA																	0					0						c.(892-894)TAC>TAA		hypothetical protein LOC168090							98.0	87.0	91.0					6																	165712974		2203	4300	6503	SO:0001587	stop_gained	168090							g.chr6:165712974G>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.894C>A	6.37:g.165712974G>T	ENSP00000230301:p.Tyr298*					C6orf118_uc011egi.1_RNA	p.Y298*	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	4	930	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	298					Q8TC11	Nonsense_Mutation	SNP	ENST00000230301.8	37	c.894C>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	38	7.246558	0.98161	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	.	.	.	5.21	4.33	0.51752	.	0.207708	0.34067	N	0.004296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7917	0.34854	0.1669:0.0:0.8331:0.0	.	.	.	.	X	298;194	.	ENSP00000230301:Y298X	Y	-	3	2	C6orf118	165632964	1.000000	0.71417	0.999000	0.59377	0.083000	0.17756	1.815000	0.38981	2.415000	0.81967	0.561000	0.74099	TAC		0.463	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		13	4	1	0	3.27435e-08	0.00245	4.07221e-08	13	4				
TTLL2	83887	broad.mit.edu	37	6	167754962	167754962	+	Missense_Mutation	SNP	C	C	T	rs149385170		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:167754962C>T	ENST00000239587.5	+	3	1662	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	525					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGCCCTACGCGTCCCTCTTC	0.552																																							uc003qvs.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1573-1575)GCG>GTG		tubulin tyrosine ligase-like family, member 2		C	VAL/ALA	0,4406		0,0,2203	142.0	118.0	126.0		1574	-2.9	0.0	6	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTLL2	NM_031949.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	525/593	167754962	1,13005	2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754962C>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1574C>T	6.37:g.167754962C>T	ENSP00000239587:p.Ala525Val					TTLL2_uc011egr.1_RNA	p.A525V	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1662	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	525					B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.1574C>T	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	C	5.635	0.301788	0.10678	0.0	1.16E-4	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02301	4.35	3.28	-2.92	0.05615	.	2.062130	0.02481	N	0.088514	T	0.00496	0.0016	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.49184	-0.8966	10	0.29301	T	0.29	.	6.3511	0.21377	0.0:0.4713:0.1475:0.3812	.	525	Q9BWV7	TTLL2_HUMAN	V	525;452	ENSP00000239587:A525V	ENSP00000239587:A525V	A	+	2	0	TTLL2	167674952	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.422000	0.07043	-0.506000	0.06558	-0.440000	0.05779	GCG		0.552	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		37	6	0	0	0	0.004289	0	37	6				
THBS2	7058	broad.mit.edu	37	6	169648861	169648861	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:169648861G>T	ENST00000366787.3	-	4	509	c.260C>A	c.(259-261)aCg>aAg	p.T87K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	87	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T87M(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GAGCTGGGCCGTGAGGAAGAA	0.617																																					Esophageal Squamous(91;219 1934 18562 44706)	Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(5)	5						c.(259-261)ACG>AAG		thrombospondin 2 precursor							128.0	108.0	115.0					6																	169648861		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648861G>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.260C>A	6.37:g.169648861G>T	ENSP00000355751:p.Thr87Lys						p.T87K	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	508	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	87			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.260C>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	6.089	0.384736	0.11524	.	.	ENSG00000186340	ENST00000366787	T	0.02280	4.36	4.55	-0.445	0.12242	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.382752	0.18843	U	0.129632	T	0.00936	0.0031	M	0.64997	1.995	0.09310	N	1	B	0.31054	0.306	B	0.27715	0.082	T	0.42396	-0.9454	10	0.59425	D	0.04	-4.8681	6.8179	0.23841	0.2547:0.1147:0.6305:0.0	.	87	P35442	TSP2_HUMAN	K	87	ENSP00000355751:T87K	ENSP00000355751:T87K	T	-	2	0	THBS2	169390786	0.004000	0.15560	0.008000	0.14137	0.003000	0.03518	1.412000	0.34714	-0.352000	0.08237	-0.257000	0.10917	ACG		0.617	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		31	8	1	0	1.39806e-14	0.008361	2.12469e-14	31	8				
SUN1	23353	broad.mit.edu	37	7	891585	891585	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:891585A>T	ENST00000405266.1	+	8	892		c.e8-1		SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000425407.2_Splice_Site|SUN1_ENST00000456758.2_Splice_Site			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1						cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTCTTGTAGGGAAGGCAG	0.428																																							uc011jvp.1		NA																	0					0						c.e8-2		unc-84 homolog A isoform a							222.0	217.0	218.0					7																	891585		1967	4185	6152	SO:0001630	splice_region_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:891585A>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.869-1A>T	7.37:g.891585A>T						GET4_uc003sjj.1_5'Flank|SUN1_uc003sjf.2_Splice_Site_p.W170_splice|SUN1_uc011jvq.1_Splice_Site_p.G151_splice|SUN1_uc003sjg.2_Splice_Site_p.G158_splice|SUN1_uc011jvr.1_Splice_Site_p.W62_splice|SUN1_uc003sji.2_Splice_Site_p.G91_splice|SUN1_uc003sjk.2_5'Flank	p.G253_splice	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			8	837	+								A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Splice_Site	SNP	ENST00000405266.1	37	c.758_splice		.	.	.	.	.	.	.	.	.	.	A	12.42	1.933494	0.34096	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000450881;ENST00000429178;ENST00000413514;ENST00000433212	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1322	0.81449	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUN1	858111	1.000000	0.71417	0.938000	0.37757	0.913000	0.54294	7.452000	0.80683	2.271000	0.75665	0.533000	0.62120	.		0.428	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	Intron	21	33	0	0	0	0.002299	0	21	33				
BRAT1	221927	broad.mit.edu	37	7	2583439	2583439	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:2583439C>A	ENST00000340611.4	-	5	844	c.588G>T	c.(586-588)caG>caT	p.Q196H	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	196					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCATGATCTTCTGGGCACACG	0.667																																							uc003smi.2		NA																	0					0						c.(586-588)CAG>CAT		hypothetical protein LOC221927 precursor							57.0	67.0	64.0					7																	2583439		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2583439C>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.588G>T	7.37:g.2583439C>A	ENSP00000339637:p.Gln196His					C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Missense_Mutation_p.Q196H	p.Q196H	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	5	630	-		Ovarian(82;0.0779)	196					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.588G>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478697	0.26511	.	.	ENSG00000106009	ENST00000340611	D	0.92647	-3.08	5.71	2.41	0.29592	Armadillo-type fold (1);	0.771285	0.12936	N	0.426998	D	0.90477	0.7017	L	0.40543	1.245	0.09310	N	1	D;B	0.53151	0.958;0.117	P;B	0.54312	0.748;0.034	T	0.81002	-0.1130	10	0.37606	T	0.19	-6.2179	6.9984	0.24795	0.0:0.5399:0.2545:0.2056	.	196;196	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	H	196	ENSP00000339637:Q196H	ENSP00000339637:Q196H	Q	-	3	2	BRAT1	2549965	0.957000	0.32711	0.727000	0.30756	0.561000	0.35649	0.655000	0.24933	0.724000	0.32296	0.655000	0.94253	CAG		0.667	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		26	44	1	0	2.12542e-12	0.00632	3.06025e-12	26	44				
ACTB	60	broad.mit.edu	37	7	5568883	5568883	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:5568883T>C	ENST00000331789.5	-	3	463	c.272A>G	c.(271-273)tAc>tGc	p.Y91C	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	91					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)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGCTCATTGTAGAAGGTGTG	0.617																																							uc003sos.3		NA																	0					0						c.(271-273)TAC>TGC		beta actin							61.0	62.0	61.0					7																	5568883		2203	4299	6502	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568883T>C	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.272A>G	7.37:g.5568883T>C	ENSP00000349960:p.Tyr91Cys					ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.Y91C|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	p.Y91C	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	2	308	-		Ovarian(82;0.0606)	91					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.272A>G	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.465782	0.26335	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713;ENST00000432588;ENST00000443528;ENST00000417101	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000034	D	0.95878	0.8658	H	0.94542	3.55	0.51767	D	0.999932	B	0.19331	0.035	B	0.27076	0.076	D	0.94924	0.8076	10	0.87932	D	0	.	12.6926	0.56982	0.0:0.0:0.0:1.0	.	91	P60709	ACTB_HUMAN	C	91;91;63;10;91;91;94	ENSP00000349960:Y91C;ENSP00000407473:Y91C;ENSP00000393951:Y91C;ENSP00000399487:Y94C	ENSP00000440549:Y10C	Y	-	2	0	ACTB	5535409	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.950000	0.87804	1.875000	0.54330	0.460000	0.39030	TAC		0.617	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		27	32	0	0	0	0.004656	0	27	32				
AGMO	392636	broad.mit.edu	37	7	15599808	15599808	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:15599808G>T	ENST00000342526.3	-	2	384	c.215C>A	c.(214-216)gCt>gAt	p.A72D		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	72					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)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGACGTTAAAGCATCATCCAG	0.448																																							uc003stb.1		NA																	0					0						c.(214-216)GCT>GAT		transmembrane protein 195							129.0	118.0	122.0					7																	15599808		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.chr7:15599808G>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.215C>A	7.37:g.15599808G>T	ENSP00000341662:p.Ala72Asp						p.A72D	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			2	385	-			72					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.215C>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263966	0.23136	.	.	ENSG00000187546	ENST00000342526	T	0.32753	1.44	6.03	4.2	0.49525	.	0.423288	0.25971	N	0.027121	T	0.31888	0.0811	M	0.73598	2.24	0.31500	N	0.664902	B	0.24823	0.112	B	0.20184	0.028	T	0.39623	-0.9605	10	0.51188	T	0.08	-17.1667	8.3766	0.32447	0.1483:0.2117:0.6399:0.0	.	72	Q6ZNB7	ALKMO_HUMAN	D	72	ENSP00000341662:A72D	ENSP00000341662:A72D	A	-	2	0	AGMO	15566333	0.287000	0.24315	0.650000	0.29550	0.045000	0.14185	0.781000	0.26774	1.530000	0.49136	0.655000	0.94253	GCT		0.448	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		34	43	1	0	9.8876e-21	0.004878	1.74257e-20	34	43				
MEOX2	4223	broad.mit.edu	37	7	15666476	15666476	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:15666476G>T	ENST00000262041.5	-	2	994	c.585C>A	c.(583-585)acC>acA	p.T195T		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	195					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTTGCTCTTTGGTAAATGCTG	0.408																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(583-585)ACC>ACA		mesenchyme homeobox 2							354.0	305.0	321.0					7																	15666476		2203	4300	6503	SO:0001819	synonymous_variant	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15666476G>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.585C>A	7.37:g.15666476G>T						MEOX2_uc011jxw.1_Silent_p.T195T	p.T195T	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	2	866	-			195			Homeobox.		B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	c.585C>A	CCDS34605.1																																																																																				0.408	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		11	32	1	0	6.40141e-05	0.000978	7.11046e-05	11	32				
FAM221A	340277	broad.mit.edu	37	7	23737895	23737895	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:23737895C>T	ENST00000344962.4	+	5	811	c.722C>T	c.(721-723)tCt>tTt	p.S241F	FAM221A_ENST00000409192.3_Intron|FAM221A_ENST00000409653.1_Missense_Mutation_p.S183F|FAM221A_ENST00000409994.3_Intron	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	241																	TCATCTAGTTCTTCTCCAGAA	0.358																																							uc003swo.3		NA																	0					0						c.(721-723)TCT>TTT		hypothetical protein LOC340277 isoform 1							128.0	129.0	129.0					7																	23737895		2203	4299	6502	SO:0001583	missense	340277							g.chr7:23737895C>T		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.722C>T	7.37:g.23737895C>T	ENSP00000342576:p.Ser241Phe					C7orf46_uc003swq.3_Intron|C7orf46_uc003swr.3_Intron|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_Intron	p.S241F	NM_199136	NP_954587	A4D161	CG046_HUMAN			5	811	+			241					Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	c.722C>T	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743758	0.49151	.	.	ENSG00000188732	ENST00000344962;ENST00000409653	T;T	0.15487	2.43;2.42	5.06	5.06	0.68205	.	0.681423	0.15407	N	0.263984	T	0.26521	0.0648	M	0.70595	2.14	0.80722	D	1	P	0.37708	0.606	B	0.38683	0.279	T	0.06917	-1.0800	10	0.66056	D	0.02	-23.2483	16.8056	0.85626	0.0:1.0:0.0:0.0	.	241	A4D161	CG046_HUMAN	F	241;183	ENSP00000342576:S241F;ENSP00000386900:S183F	ENSP00000342576:S241F	S	+	2	0	C7orf46	23704420	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	2.768000	0.47645	2.627000	0.88993	0.655000	0.94253	TCT		0.358	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		27	30	0	0	0	0.002096	0	27	30				
CCDC129	223075	broad.mit.edu	37	7	31683159	31683159	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:31683159C>A	ENST00000407970.3	+	11	2213	c.2175C>A	c.(2173-2175)gcC>gcA	p.A725A	CCDC129_ENST00000319386.3_Silent_p.A577A|CCDC129_ENST00000451887.2_Silent_p.A751A|CCDC129_ENST00000409210.1_Silent_p.A633A	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	725										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGGCTGTGGCCTTGGGGACTG	0.507																																							uc003tcj.1		NA																	0					0						c.(2173-2175)GCC>GCA		coiled-coil domain containing 129							81.0	85.0	84.0					7																	31683159		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31683159C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2175C>A	7.37:g.31683159C>A						CCDC129_uc011kad.1_Silent_p.A735A|CCDC129_uc003tci.1_Silent_p.A576A|CCDC129_uc011kae.1_Silent_p.A751A|CCDC129_uc003tck.1_Silent_p.A633A	p.A725A	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	3168	+			725					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.2175C>A	CCDS5435.2																																																																																				0.507	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		25	37	1	0	4.26978e-12	0.00333	6.07409e-12	25	37				
PDE1C	5137	broad.mit.edu	37	7	31917651	31917651	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:31917651T>A	ENST00000396191.1	-	5	881		c.e5-2		PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000396184.3_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTATACATTCTGAAAAGCCAA	0.348																																							uc003tcm.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.e5-1		phosphodiesterase 1C							97.0	90.0	92.0					7																	31917651		2203	4300	6503	SO:0001630	splice_region_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31917651T>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.426-2A>T	7.37:g.31917651T>A						PDE1C_uc003tcn.1_Splice_Site_p.R142_splice|PDE1C_uc003tco.1_Splice_Site_p.R202_splice|PDE1C_uc003tcr.2_Splice_Site_p.R142_splice|PDE1C_uc003tcs.2_Splice_Site_p.R142_splice	p.R142_splice	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		5	895	-								B3KPC6|E9PE92|Q14124|Q8NB10	Splice_Site	SNP	ENST00000396191.1	37	c.426_splice	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568568	0.65651	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.434	0.75129	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE1C	31884176	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.860000	0.86993	2.132000	0.65825	0.528000	0.53228	.		0.348	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		Intron	10	19	0	0	0	0.008291	0	10	19				
BMPER	168667	broad.mit.edu	37	7	34118554	34118554	+	Nonsense_Mutation	SNP	C	C	A	rs376862501		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:34118554C>A	ENST00000297161.2	+	13	1538	c.1164C>A	c.(1162-1164)taC>taA	p.Y388*	BMPER_ENST00000426693.1_Nonsense_Mutation_p.Y388*	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	388	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGTGTCAGTACGTTTTGACAA	0.582																																							uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1162-1164)TAC>TAA		BMP-binding endothelial regulator precursor							104.0	111.0	109.0					7																	34118554		2203	4300	6503	SO:0001587	stop_gained	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118554C>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1164C>A	7.37:g.34118554C>A	ENSP00000297161:p.Tyr388*						p.Y388*	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			12	1278	+			388			VWFD.		A8K1P8|Q8TF36	Nonsense_Mutation	SNP	ENST00000297161.2	37	c.1164C>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	42	9.282210	0.99123	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	.	.	.	5.87	3.09	0.35607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3843	0.32491	0.0:0.6304:0.0:0.3696	.	.	.	.	X	388	.	ENSP00000297161:Y388X	Y	+	3	2	BMPER	34085079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.754000	0.26390	0.383000	0.24910	0.655000	0.94253	TAC		0.582	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		33	37	1	0	8.88839e-20	0.002096	1.54355e-19	33	37				
AOAH	313	broad.mit.edu	37	7	36655997	36655997	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:36655997G>T	ENST00000258749.5	-	11	1234	c.835C>A	c.(835-837)Cag>Aag	p.Q279K	AOAH_ENST00000431169.1_Missense_Mutation_p.Q279K|AOAH_ENST00000535891.1_Missense_Mutation_p.Q247K	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	279					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAAGACATCTGCGACGCTGTG	0.463																																							uc003tfh.3		NA																	0				skin(1)	1						c.(835-837)CAG>AAG		acyloxyacyl hydrolase precursor							79.0	68.0	72.0					7																	36655997		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36655997G>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.835C>A	7.37:g.36655997G>T	ENSP00000258749:p.Gln279Lys					AOAH_uc010kxf.2_Missense_Mutation_p.Q279K|AOAH_uc011kba.1_Missense_Mutation_p.Q247K	p.Q279K	NM_001637	NP_001628	P28039	AOAH_HUMAN			11	1236	-			279					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.835C>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260105	0.59321	.	.	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T	0.13420	2.59;2.59;2.59	4.83	4.83	0.62350	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.296299	0.29066	N	0.013251	T	0.35480	0.0933	.	.	.	0.80722	D	1	D;D;P	0.53885	0.963;0.96;0.81	D;P;B	0.71414	0.973;0.681;0.381	T	0.02004	-1.1231	9	0.40728	T	0.16	.	14.9585	0.71138	0.0:0.0:1.0:0.0	.	247;279;279	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	K	247;279;279;279	ENSP00000441101:Q247K;ENSP00000258749:Q279K;ENSP00000405683:Q279K	ENSP00000258749:Q279K	Q	-	1	0	AOAH	36622522	1.000000	0.71417	0.986000	0.45419	0.880000	0.50808	5.280000	0.65603	2.486000	0.83907	0.655000	0.94253	CAG		0.463	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		11	17	1	0	0.00829132	0.008291	0.00865604	11	17				
ELMO1	9844	broad.mit.edu	37	7	37382250	37382250	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:37382250C>A	ENST00000310758.4	-	2	692	c.45G>T	c.(43-45)ccG>ccT	p.P15P	ELMO1_ENST00000448602.1_Silent_p.P15P|ELMO1_ENST00000442504.1_Silent_p.P15P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	15					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTAGGCGCCCGGCCATTCTA	0.478																																							uc003tfk.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(43-45)CCG>CCT		engulfment and cell motility 1 isoform 1							150.0	159.0	156.0					7																	37382250		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37382250C>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.45G>T	7.37:g.37382250C>A						ELMO1_uc010kxg.1_Silent_p.P15P	p.P15P	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			2	352	-			15					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.45G>T	CCDS5449.1																																																																																				0.478	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		41	88	1	0	2.26627e-22	0.007835	4.10582e-22	41	88				
GPR141	353345	broad.mit.edu	37	7	37780648	37780648	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:37780648A>T	ENST00000447769.1	+	4	942	c.653A>T	c.(652-654)cAc>cTc	p.H218L	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.H218L			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTACTATCCCACCAGGAGTTC	0.413																																							uc003tfm.1		NA																	0				ovary(3)	3						c.(652-654)CAC>CTC		G protein-coupled receptor 141							179.0	174.0	176.0					7																	37780648		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780648A>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.653A>T	7.37:g.37780648A>T	ENSP00000390410:p.His218Leu					uc003tfl.2_Intron	p.H218L	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	653	+			218			Cytoplasmic (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.653A>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379527	0.82682	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.35048	1.33;1.33	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.061161	0.64402	D	0.000002	T	0.57504	0.2058	M	0.75264	2.295	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	T	0.58132	-0.7690	10	0.40728	T	0.16	-27.5467	14.135	0.65281	1.0:0.0:0.0:0.0	.	218	Q7Z602	GP141_HUMAN	L	218	ENSP00000390410:H218L;ENSP00000334540:H218L	ENSP00000334540:H218L	H	+	2	0	GPR141	37747173	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.722000	0.91452	2.241000	0.73720	0.533000	0.62120	CAC		0.413	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		39	64	0	0	0	0.004878	0	39	64				
TRGC2	6967	broad.mit.edu	37	7	38282072	38282072	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:38282072G>T	ENST00000436911.2	-	0	382							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										CCATTGTGATGACATCTAGAA	0.338																																							uc003tfu.3		NA																	0					NA						c.(196-198)GTC>GTA		SubName: Full=TARP protein;							292.0	269.0	276.0					7																	38282072		1916	4133	6049			0							g.chr7:38282072G>T	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38282072G>T						uc003tfv.2_Silent_p.V66V	p.V66V							4	433	-									Silent	SNP	ENST00000436911.2	37	c.198C>A																																																																																					0.338	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		49	80	1	0	5.13769e-22	0.00361	9.21419e-22	49	80				
GCK	2645	broad.mit.edu	37	7	44192931	44192931	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:44192931G>A	ENST00000403799.3	-	2	646	c.177C>T	c.(175-177)ccC>ccT	p.P59P	GCK_ENST00000476008.1_5'Flank|GCK_ENST00000437084.1_Silent_p.P59P|GCK_ENST00000395796.3_Silent_p.P58P|GCK_ENST00000345378.2_Silent_p.P60P	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	59	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCACGTAGGTGGGCAGCATCT	0.607																																							uc003tkl.2		NA																	0				skin(3)|lung(1)	4						c.(175-177)CCC>CCT		glucokinase isoform 1							193.0	161.0	172.0					7																	44192931		2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44192931G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.177C>T	7.37:g.44192931G>A						GCK_uc003tkj.1_Silent_p.P58P|GCK_uc003tkk.1_Silent_p.P60P	p.P59P	NM_000162	NP_000153	P35557	HXK4_HUMAN			2	647	-			59					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.177C>T	CCDS5479.1																																																																																				0.607	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			41	34	0	0	0	0.00623	0	41	34				
ABCA13	154664	broad.mit.edu	37	7	48522714	48522714	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:48522714C>A	ENST00000435803.1	+	47	13160	c.13136C>A	c.(13135-13137)gCt>gAt	p.A4379D	ABCA13_ENST00000544596.1_Missense_Mutation_p.A109D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4379					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCAGTGAAGCTGGAGGTGCA	0.373																																							uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(13135-13137)GCT>GAT		ATP binding cassette, sub-family A (ABC1),							93.0	85.0	87.0					7																	48522714		1830	4101	5931	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48522714C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13136C>A	7.37:g.48522714C>A	ENSP00000411096:p.Ala4379Asp					ABCA13_uc010kys.1_Missense_Mutation_p.A1454D|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.A109D	p.A4379D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			47	13161	+			4379					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13136C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078871	0.36662	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87491	-2.06;-2.26;-2.22	5.02	-8.61	0.00885	.	1.395640	0.05128	N	0.492132	T	0.79246	0.4413	N	0.22421	0.69	0.09310	N	1	B;P;P	0.44380	0.27;0.834;0.784	B;P;P	0.45829	0.242;0.483;0.494	T	0.72827	-0.4175	10	0.31617	T	0.26	.	11.5927	0.50955	0.0:0.6972:0.1422:0.1606	.	109;2081;4379	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	D	4379;152;109	ENSP00000411096:A4379D;ENSP00000391042:A152D;ENSP00000442634:A109D	ENSP00000391042:A152D	A	+	2	0	ABCA13	48493260	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	-1.974000	0.01499	-1.395000	0.02074	0.563000	0.77884	GCT		0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		8	8	1	0	0.000157383	0.00308	0.000172794	8	8				
CDC14C	168448	broad.mit.edu	37	7	48964913	48964913	+	IGR	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:48964913C>A								AC004899.1 (73692 upstream) : AC010971.1 (304819 downstream)																							AACATTCTCCCGAGACTTATA	0.383																																							uc010kyv.1		NA																	0					0						c.(643-645)CCC>CCA		SubName: Full=Putative uncharacterized protein MGC26484;																																				SO:0001628	intergenic_variant	168448							g.chr7:48964913C>A																													7.37:g.48964913C>A							p.P215P	NR_003595						1	757	+									Silent	SNP		37	c.645C>A																																																																																				0	0.383									13	18	1	0	1.00905e-13	0.008871	1.49675e-13	13	18				
SEPT14	346288	broad.mit.edu	37	7	55902135	55902135	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:55902135C>G	ENST00000388975.3	-	6	819	c.703G>C	c.(703-705)Gcg>Ccg	p.A235P		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	235	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGGAGTTCGCTTGAGCAGCA	0.343																																							uc003tqz.2		NA																	0					0						c.(703-705)GCG>CCG		septin 14							104.0	90.0	95.0					7																	55902135		2203	4300	6503	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55902135C>G	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.703G>C	7.37:g.55902135C>G	ENSP00000373627:p.Ala235Pro						p.A235P	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	820	-	Breast(14;0.214)		235					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.703G>C	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748556	0.30955	.	.	ENSG00000154997	ENST00000388975	T	0.52983	0.64	4.19	-7.47	0.01365	.	2.573600	0.01974	N	0.044332	T	0.38532	0.1044	L	0.38175	1.15	0.09310	N	1	B	0.30634	0.288	B	0.37480	0.251	T	0.40194	-0.9576	10	0.42905	T	0.14	.	7.1695	0.25710	0.2176:0.1536:0.0:0.6288	.	235	Q6ZU15	SEP14_HUMAN	P	235	ENSP00000373627:A235P	ENSP00000373627:A235P	A	-	1	0	SEPT14	55869629	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.304000	0.08199	-1.771000	0.01293	-0.143000	0.13931	GCG		0.343	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		11	8	0	0	0	0.001368	0	11	8				
ZNF479	90827	broad.mit.edu	37	7	57188163	57188163	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:57188163G>T	ENST00000331162.4	-	5	1229	c.959C>A	c.(958-960)aCt>aAt	p.T320N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTCTCTCCAGTATGAATTCT	0.438																																							uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(958-960)ACT>AAT		zinc finger protein 479							10.0	10.0	10.0					7																	57188163		1821	3952	5773	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188163G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.959C>A	7.37:g.57188163G>T	ENSP00000333776:p.Thr320Asn						p.T320N	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1230	-			320						Missense_Mutation	SNP	ENST00000331162.4	37	c.959C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	10.25	1.297750	0.23650	.	.	ENSG00000185177	ENST00000331162	T	0.26067	1.76	1.01	-1.25	0.09405	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22704	0.0548	L	0.38692	1.165	0.29012	N	0.886831	B	0.25351	0.124	B	0.37451	0.25	T	0.43782	-0.9370	9	0.72032	D	0.01	.	6.4748	0.22028	0.0:0.3063:0.6937:0.0	.	320	Q96JC4	ZN479_HUMAN	N	320	ENSP00000333776:T320N	ENSP00000333776:T320N	T	-	2	0	ZNF479	57192105	1.000000	0.71417	0.009000	0.14445	0.008000	0.06430	3.766000	0.55280	-0.520000	0.06435	-0.518000	0.04402	ACT		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		15	17	1	0	5.3912e-06	0.006122	6.23645e-06	15	17				
ZNF479	90827	broad.mit.edu	37	7	57193727	57193727	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:57193727G>T	ENST00000331162.4	-	4	530	c.260C>A	c.(259-261)cCa>cAa	p.P87Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	87	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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCACCTACCTGGGTGTTTGGC	0.453																																							uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(259-261)CCA>CAA		zinc finger protein 479							78.0	84.0	82.0					7																	57193727		2057	4102	6159	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57193727G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.260C>A	7.37:g.57193727G>T	ENSP00000333776:p.Pro87Gln						p.P87Q	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		4	531	-			87			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.260C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	10.81	1.454752	0.26161	.	.	ENSG00000185177	ENST00000331162	T	0.06687	3.27	1.25	1.25	0.21368	Krueppel-associated box (1);	.	.	.	.	T	0.14356	0.0347	M	0.75884	2.315	0.21984	N	0.999435	P	0.44627	0.839	P	0.46758	0.526	T	0.11616	-1.0580	9	0.87932	D	0	.	5.8275	0.18562	0.0:0.0:1.0:0.0	.	87	Q96JC4	ZN479_HUMAN	Q	87	ENSP00000333776:P87Q	ENSP00000333776:P87Q	P	-	2	0	ZNF479	57197669	0.002000	0.14202	0.351000	0.25721	0.077000	0.17291	-0.249000	0.08842	0.669000	0.31146	0.393000	0.25936	CCA		0.453	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		33	41	1	0	1.99505e-19	0.002445	3.43941e-19	33	41				
ZNF716	441234	broad.mit.edu	37	7	57522810	57522810	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:57522810C>A	ENST00000420713.1	+	3	310	c.198C>A	c.(196-198)acC>acA	p.T66T		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	66	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)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACTTGATCACCTGTCTGGAGC	0.378																																							uc011kdi.1		NA																	0				ovary(2)	2						c.(196-198)ACC>ACA		zinc finger protein 716							97.0	78.0	84.0					7																	57522810		692	1590	2282	SO:0001819	synonymous_variant	441234							g.chr7:57522810C>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.198C>A	7.37:g.57522810C>A							p.T66T	NM_001159279	NP_001152751					3	310	+									Silent	SNP	ENST00000420713.1	37	c.198C>A	CCDS55112.1																																																																																				0.378	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		35	52	1	0	2.20474e-14	0.003755	3.3435e-14	35	52				
AUTS2	26053	broad.mit.edu	37	7	69364473	69364473	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:69364473G>C	ENST00000342771.4	+	2	832	c.511G>C	c.(511-513)Gca>Cca	p.A171P	AUTS2_ENST00000403018.2_Missense_Mutation_p.A171P|AUTS2_ENST00000406775.2_Missense_Mutation_p.A171P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	171										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AATGCCGAAGGCACTCAGACA	0.517																																							uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(511-513)GCA>CCA		autism susceptibility candidate 2 isoform 1							68.0	68.0	68.0					7																	69364473		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69364473G>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.511G>C	7.37:g.69364473G>C	ENSP00000344087:p.Ala171Pro					AUTS2_uc003tvv.3_Missense_Mutation_p.A171P|AUTS2_uc003tvx.3_Missense_Mutation_p.A171P	p.A171P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	2	1254	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	171					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.511G>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652681	0.29336	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.29142	1.58;1.6	5.64	5.64	0.86602	.	0.108661	0.40302	N	0.001127	T	0.13756	0.0333	N	0.02916	-0.46	0.28210	N	0.926986	B;B;B	0.29766	0.005;0.005;0.256	B;B;B	0.30251	0.022;0.022;0.113	T	0.15780	-1.0425	9	.	.	.	-4.7895	13.108	0.59257	0.0722:0.0:0.9277:0.0	.	171;171;171	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	P	171	ENSP00000385263:A171P;ENSP00000344087:A171P	.	A	+	1	0	AUTS2	69002409	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.392000	0.59659	2.937000	0.99478	0.650000	0.86243	GCA		0.517	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			20	52	0	0	0	0.010504	0	20	52				
AUTS2	26053	broad.mit.edu	37	7	70246712	70246712	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:70246712G>T	ENST00000342771.4	+	15	2437	c.2116G>T	c.(2116-2118)Gca>Tca	p.A706S	AUTS2_ENST00000406775.2_Missense_Mutation_p.A682S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	706										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCATGACCTGGCACGGCCTTC	0.537																																							uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2116-2118)GCA>TCA		autism susceptibility candidate 2 isoform 1							89.0	93.0	92.0					7																	70246712		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70246712G>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2116G>T	7.37:g.70246712G>T	ENSP00000344087:p.Ala706Ser					AUTS2_uc003tvx.3_Missense_Mutation_p.A682S|AUTS2_uc011keg.1_Missense_Mutation_p.A158S	p.A706S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	15	2859	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	706					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.2116G>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749232	0.96882	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.36340	1.28;1.26	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.53617	1.68	0.80722	D	1	D;P;P	0.76494	0.999;0.946;0.896	D;P;P	0.69142	0.962;0.781;0.781	T	0.46775	-0.9167	9	.	.	.	-17.2627	20.3242	0.98691	0.0:0.0:1.0:0.0	.	158;682;706	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	S	682;706	ENSP00000385263:A682S;ENSP00000344087:A706S	.	A	+	1	0	AUTS2	69884648	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.442000	0.80503	2.811000	0.96726	0.555000	0.69702	GCA		0.537	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			30	68	1	0	2.2171e-23	0.009535	4.07901e-23	30	68				
TYW1B	441250	broad.mit.edu	37	7	72159680	72159680	+	RNA	SNP	G	G	C	rs530596657		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:72159680G>C	ENST00000435769.2	-	0	1626				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TTCTTACCTTGACTGCCAAGG	0.398																																							uc011kej.1		NA																	0					0						c.(1501-1503)GTC>GTG		tRNA-yW synthesizing protein 1 homolog B isoform							56.0	49.0	51.0					7																	72159680		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72159680G>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72159680G>C						TYW1B_uc011keh.1_Silent_p.V339V|TYW1B_uc011kei.1_Silent_p.V127V	p.V501V	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			14	1662	-			501					A6NG09|B4DFY2|Q3KQX2	Silent	SNP	ENST00000435769.2	37	c.1503C>G																																																																																					0.398	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		11	42	0	0	0	0.008291	0	11	42				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658435	72658435	+	RNA	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:72658435C>T	ENST00000425256.1	-	0	1476									GTF2I repeat domain containing 2 pseudogene 1																		catcgaaattctcatcgacac	0.433																																							uc003txs.1		NA																	0					0						c.(547-549)GAG>GAA		RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta;																																						401375							g.chr7:72658435C>T	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658435C>T						FKBP6_uc003twz.2_Intron	p.E183E	NR_002164						13	1477	-									Silent	SNP	ENST00000425256.1	37	c.549G>A																																																																																					0.433	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		20	45	0	0	0	0.010504	0	20	45				
FKBP6	8468	broad.mit.edu	37	7	72745759	72745759	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:72745759G>T	ENST00000252037.4	+	5	637	c.568G>T	c.(568-570)Gcc>Tcc	p.A190S	FKBP6_ENST00000413573.2_Missense_Mutation_p.A160S|FKBP6_ENST00000431982.2_Missense_Mutation_p.A185S	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	190					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTTCTATGATGCCAAAGTGAG	0.403																																							uc003tya.2		NA																	0					0						c.(568-570)GCC>TCC		FK506 binding protein 6 isoform a							100.0	97.0	98.0					7																	72745759		1866	4099	5965	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72745759G>T	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.568G>T	7.37:g.72745759G>T	ENSP00000252037:p.Ala190Ser					FKBP6_uc003twz.2_Missense_Mutation_p.A160S|FKBP6_uc011kew.1_Missense_Mutation_p.A185S|FKBP6_uc010lbe.1_RNA	p.A190S	NM_003602	NP_003593	O75344	FKBP6_HUMAN			5	700	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	190			TPR 1.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.568G>T	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253171	0.80135	.	.	ENSG00000077800	ENST00000431982;ENST00000413573;ENST00000252037	D;D;D	0.93811	-3.29;-3.29;-3.29	5.4	5.4	0.78164	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.97362	0.9137	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98003	1.0361	10	0.72032	D	0.01	-16.1668	18.1607	0.89707	0.0:0.0:1.0:0.0	.	185;190;160	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	S	185;160;190	ENSP00000416277:A185S;ENSP00000394952:A160S;ENSP00000252037:A190S	ENSP00000252037:A190S	A	+	1	0	FKBP6	72383695	1.000000	0.71417	0.998000	0.56505	0.574000	0.36063	8.136000	0.89610	2.537000	0.85549	0.655000	0.94253	GCC		0.403	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		11	69	1	0	5.50884e-06	0.001368	6.34675e-06	11	69				
FKBP6	8468	broad.mit.edu	37	7	72754748	72754748	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:72754748G>T	ENST00000252037.4	+	6	766	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	FKBP6_ENST00000413573.2_Missense_Mutation_p.D203Y|RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000431982.2_Missense_Mutation_p.D228Y	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	233					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGAAGCTAGACCGACCCAC	0.567																																							uc003tya.2		NA																	0					0						c.(697-699)GAC>TAC		FK506 binding protein 6 isoform a							79.0	81.0	80.0					7																	72754748		1945	4157	6102	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754748G>T	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.697G>T	7.37:g.72754748G>T	ENSP00000252037:p.Asp233Tyr					FKBP6_uc003twz.2_Missense_Mutation_p.D203Y|FKBP6_uc011kew.1_Missense_Mutation_p.D228Y|FKBP6_uc010lbe.1_RNA	p.D233Y	NM_003602	NP_003593	O75344	FKBP6_HUMAN			6	829	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	233			TPR 2.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.697G>T	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584459	0.46110	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.91	4.0	0.46444	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.281483	0.38492	N	0.001677	T	0.74772	0.3760	L	0.55481	1.735	0.38713	D	0.953255	P;B;P	0.48407	0.91;0.213;0.846	P;B;B	0.48400	0.576;0.219;0.219	T	0.78526	-0.2170	10	0.66056	D	0.02	-3.4279	12.4623	0.55738	0.0:0.1685:0.8315:0.0	.	228;233;203	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	Y	228;188;203;233	ENSP00000416277:D228Y;ENSP00000402360:D188Y;ENSP00000394952:D203Y;ENSP00000252037:D233Y	ENSP00000252037:D233Y	D	+	1	0	FKBP6	72392684	1.000000	0.71417	0.942000	0.38095	0.873000	0.50193	3.707000	0.54838	1.034000	0.39945	0.563000	0.77884	GAC		0.567	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		17	32	1	0	9.16793e-09	0.00499	1.15737e-08	17	32				
HGF	3082	broad.mit.edu	37	7	81355309	81355309	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:81355309T>A	ENST00000222390.5	-	9	1291	c.1065A>T	c.(1063-1065)cgA>cgT	p.R355R	HGF_ENST00000457544.2_Silent_p.R350R	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	355	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CATCTGGATTTCGGCAGTAAT	0.428																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1063-1065)CGA>CGT		hepatocyte growth factor isoform 1							122.0	120.0	121.0					7																	81355309		2203	4300	6503	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81355309T>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1065A>T	7.37:g.81355309T>A						HGF_uc003uhm.2_Silent_p.R350R	p.R355R	NM_000601	NP_000592	P14210	HGF_HUMAN			9	1230	-			355			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.1065A>T	CCDS5597.1																																																																																				0.428	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		22	46	0	0	0	0.002299	0	22	46				
PCLO	27445	broad.mit.edu	37	7	82387928	82387928	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:82387928C>A	ENST00000333891.9	-	25	15729	c.15392G>T	c.(15391-15393)tGg>tTg	p.W5131L		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGTTTGTGCCAGTTGACTAT	0.393																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(15391-15393)TGG>TTG		piccolo isoform 1							262.0	249.0	253.0					7																	82387928		1848	4089	5937	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.chr7:82387928C>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.15392G>T	7.37:g.82387928C>A	ENSP00000334319:p.Trp5131Leu						p.W5131L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			25	15681	-			5054						Missense_Mutation	SNP	ENST00000333891.9	37	c.15392G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180477	0.57800	.	.	ENSG00000186472	ENST00000333891	T	0.12147	2.71	5.51	5.51	0.81932	.	0.000000	0.47093	U	0.000256	T	0.27454	0.0674	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04650	-1.0936	10	0.87932	D	0	.	19.4158	0.94697	0.0:1.0:0.0:0.0	.	5131	Q9Y6V0-5	.	L	5131	ENSP00000334319:W5131L	ENSP00000334319:W5131L	W	-	2	0	PCLO	82225864	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.598000	0.87819	0.585000	0.79938	TGG		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		54	163	1	0	1.4374e-25	0.00361	2.70391e-25	54	163				
PCLO	27445	broad.mit.edu	37	7	82580282	82580282	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:82580282C>A	ENST00000333891.9	-	6	9959	c.9622G>T	c.(9622-9624)Gat>Tat	p.D3208Y	PCLO_ENST00000423517.2_Missense_Mutation_p.D3208Y|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGTTTATCTTCTTCAGGG	0.473																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(9622-9624)GAT>TAT		piccolo isoform 1							52.0	49.0	50.0					7																	82580282		1869	4116	5985	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.chr7:82580282C>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.9622G>T	7.37:g.82580282C>A	ENSP00000334319:p.Asp3208Tyr					PCLO_uc003uhv.2_Missense_Mutation_p.D3208Y|PCLO_uc010lec.2_Missense_Mutation_p.D173Y	p.D3208Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	9911	-			3139						Missense_Mutation	SNP	ENST00000333891.9	37	c.9622G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373449	0.24857	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17370	2.28;2.28	5.33	5.33	0.75918	.	.	.	.	.	T	0.35189	0.0923	L	0.47716	1.5	0.80722	D	1	P;D;D	0.69078	0.651;0.997;0.997	P;D;D	0.63192	0.498;0.912;0.912	T	0.04467	-1.0949	9	0.87932	D	0	.	18.5945	0.91225	0.0:1.0:0.0:0.0	.	3139;3208;3208	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Y	3139;3208;3208	ENSP00000334319:D3208Y;ENSP00000388393:D3208Y	ENSP00000334319:D3208Y	D	-	1	0	PCLO	82418218	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.702000	0.68332	2.500000	0.84329	0.313000	0.20887	GAT		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	45	1	0	3.99206e-14	0.007413	6.01554e-14	18	45				
GRM3	2913	broad.mit.edu	37	7	86394875	86394875	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:86394875C>T	ENST00000361669.2	+	2	1513	c.414C>T	c.(412-414)atC>atT	p.I138I	GRM3_ENST00000394720.2_Silent_p.I136I|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.I138I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	138					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AAGAAAACATCCCACTTCTCA	0.428																																					GBM(52;969 1098 3139 52280)	GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(412-414)ATC>ATT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						127.0	115.0	119.0					7																	86394875		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394875C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.414C>T	7.37:g.86394875C>T						GRM3_uc010lef.2_Silent_p.I136I|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.I138I	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1513	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		138			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.414C>T	CCDS5600.1																																																																																				0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			13	45	0	0	0	0.00245	0	13	45				
ABCB4	5244	broad.mit.edu	37	7	87069682	87069682	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:87069682C>T	ENST00000265723.4	-	13	1504	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I	ABCB4_ENST00000359206.3_Missense_Mutation_p.V465I|ABCB4_ENST00000545634.1_Missense_Mutation_p.V465I|ABCB4_ENST00000358400.3_Missense_Mutation_p.V465I|ABCB4_ENST00000453593.1_Missense_Mutation_p.V465I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	465	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	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)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGATAGTTTACATTAAAGTTC	0.363																																							uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(1393-1395)GTA>ATA		ATP-binding cassette, subfamily B, member 4							80.0	82.0	81.0					7																	87069682		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069682C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1393G>A	7.37:g.87069682C>T	ENSP00000265723:p.Val465Ile					ABCB4_uc003uiw.1_Missense_Mutation_p.V465I|ABCB4_uc003uix.1_Missense_Mutation_p.V465I	p.V465I	NM_018849	NP_061337	P21439	MDR3_HUMAN			13	1469	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		465			ABC transporter 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1393G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	7.928	0.740019	0.15642	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	5.73	5.73	0.89815	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.119454	0.56097	D	0.000024	D	0.85457	0.5701	N	0.03917	-0.325	0.54753	D	0.999983	B;B;B	0.31009	0.174;0.258;0.303	B;B;B	0.37508	0.181;0.163;0.252	T	0.83355	-0.0001	10	0.22706	T	0.39	-16.7465	14.1056	0.65088	0.0:0.9284:0.0:0.0716	.	465;465;465	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	I	465	ENSP00000352135:V465I;ENSP00000351172:V465I;ENSP00000265723:V465I;ENSP00000392983:V465I;ENSP00000437465:V465I	ENSP00000265723:V465I	V	-	1	0	ABCB4	86907618	0.867000	0.29959	0.818000	0.32626	0.093000	0.18481	0.896000	0.28377	2.679000	0.91253	0.650000	0.86243	GTA		0.363	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		15	18	0	0	0	0.00499	0	15	18				
SRI	6717	broad.mit.edu	37	7	87838653	87838653	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:87838653C>A	ENST00000265729.2	-	6	564		c.e6+1		SRI_ENST00000419179.1_Splice_Site|SRI_ENST00000490437.1_Splice_Site|SRI_ENST00000431660.1_Splice_Site|SRI_ENST00000394641.3_Splice_Site	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin						action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ATAGAACTCACCTGTAAGAGC	0.428																																							uc003ujq.1		NA																	0				upper_aerodigestive_tract(1)	1						c.e6+1		sorcin isoform a							151.0	123.0	133.0					7																	87838653		2203	4300	6503	SO:0001630	splice_region_variant	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87838653C>A	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.511+1G>T	7.37:g.87838653C>A						SRI_uc011khg.1_Splice_Site_p.D131_splice|SRI_uc003ujr.1_Splice_Site_p.D156_splice|SRI_uc011khh.1_Splice_Site_p.D156_splice|SRI_uc010lej.1_Missense_Mutation_p.G171V	p.D171_splice	NM_003130	NP_003121	P30626	SORCN_HUMAN			6	563	-	Esophageal squamous(14;0.00202)							A8MTH6|B4DKK2|D6W5Q0	Splice_Site	SNP	ENST00000265729.2	37	c.511_splice	CCDS5612.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566622	0.86439	.	.	ENSG00000075142	ENST00000265729;ENST00000419179;ENST00000490437;ENST00000394641;ENST00000431660	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1861	0.98216	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRI	87676589	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	7.729000	0.84864	2.774000	0.95407	0.655000	0.94253	.		0.428	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130	Intron	34	30	1	0	4.31634e-10	0.002445	5.74436e-10	34	30				
ZNF804B	219578	broad.mit.edu	37	7	88965012	88965012	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:88965012G>A	ENST00000333190.4	+	4	3325	c.2716G>A	c.(2716-2718)Ggc>Agc	p.G906S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	906							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGTTCCAGTGGCCCTTCAGA	0.458										HNSCC(36;0.09)																													uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2716-2718)GGC>AGC		zinc finger protein 804B							80.0	85.0	83.0					7																	88965012		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965012G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2716G>A	7.37:g.88965012G>A	ENSP00000329638:p.Gly906Ser	HNSCC(36;0.09)					p.G906S	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3254	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		906					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2716G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.318911	0.10845	.	.	ENSG00000182348	ENST00000333190	T	0.06371	3.31	5.34	-3.27	0.05048	.	1.208780	0.05638	N	0.582825	T	0.02610	0.0079	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.43475	-0.9389	10	0.10111	T	0.7	1.5286	0.5188	0.00608	0.364:0.1358:0.2813:0.2189	.	906	A4D1E1	Z804B_HUMAN	S	906	ENSP00000329638:G906S	ENSP00000329638:G906S	G	+	1	0	ZNF804B	88802948	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.278000	0.08490	-0.942000	0.03695	-0.152000	0.13540	GGC		0.458	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		41	70	0	0	0	0.007835	0	41	70				
HEPACAM2	253012	broad.mit.edu	37	7	92821666	92821666	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:92821666C>T	ENST00000394468.2	-	9	1363	c.1286G>A	c.(1285-1287)aGg>aAg	p.R429K	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.R452K|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G409S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.R417K	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	429					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.R417K(1)|p.R429K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGGAACAGACCTGCTTGGGAT	0.403																																							uc003umm.2		NA																	2	Substitution - Missense(2)		endometrium(2)	ovary(3)|breast(1)|kidney(1)	5						c.(1285-1287)AGG>AAG		HEPACAM family member 2 isoform 1							107.0	99.0	102.0					7																	92821666		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92821666C>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1286G>A	7.37:g.92821666C>T	ENSP00000377980:p.Arg429Lys					HEPACAM2_uc003uml.2_Missense_Mutation_p.R417K|HEPACAM2_uc010lff.2_Missense_Mutation_p.G409S|HEPACAM2_uc011khy.1_Missense_Mutation_p.R452K	p.R429K	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			9	1309	-			429			Cytoplasmic (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.1286G>A	CCDS43616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.169|7.169	0.587245|0.587245	0.13812|0.13812	.|.	.|.	ENSG00000188175|ENSG00000188175	ENST00000440868|ENST00000394468;ENST00000341723;ENST00000453812	T|T;T;T	0.61859|0.51817	0.07|0.69;0.7;0.71	4.35|4.35	3.46|3.46	0.39613|0.39613	.|.	.|0.511109	.|0.21281	.|N	.|0.077152	T|T	0.24314|0.24314	0.0589|0.0589	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|B;B;B	0.10296|0.18310	0.003|0.016;0.006;0.027	B|B;B;B	0.06405|0.13407	0.002|0.007;0.004;0.009	T|T	0.26643|0.26643	-1.0097|-1.0097	9|10	0.56958|0.02654	D|T	0.05|1	-7.3103|-7.3103	6.6207|6.6207	0.22802|0.22802	0.1806:0.7199:0.0:0.0996|0.1806:0.7199:0.0:0.0996	.|.	409|452;429;417	C9JN07|E9PDV5;A8MVW5;A8MVW5-2	.|.;HECA2_HUMAN;.	S|K	409|429;417;452	ENSP00000389592:G409S|ENSP00000377980:R429K;ENSP00000340532:R417K;ENSP00000390204:R452K	ENSP00000389592:G409S|ENSP00000340532:R417K	G|R	-|-	1|2	0|0	HEPACAM2|HEPACAM2	92659602|92659602	0.131000|0.131000	0.22433|0.22433	0.004000|0.004000	0.12327|0.12327	0.030000|0.030000	0.12068|0.12068	1.918000|1.918000	0.40006|0.40006	1.149000|1.149000	0.42402|0.42402	0.563000|0.563000	0.77884|0.77884	GGT|AGG		0.403	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		35	91	0	0	0	0.004878	0	35	91				
COL1A2	1278	broad.mit.edu	37	7	94059592	94059592	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:94059592G>C	ENST00000297268.6	+	52	4459	c.3988G>C	c.(3988-3990)Gaa>Caa	p.E1330Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1330	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GACAATCATTGAATACAAAAC	0.388										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3988-3990)GAA>CAA		alpha 2 type I collagen precursor	Collagenase(DB00048)						191.0	181.0	185.0					7																	94059592		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94059592G>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3988G>C	7.37:g.94059592G>C	ENSP00000297268:p.Glu1330Gln	HNSCC(75;0.22)				COL1A2_uc011kib.1_Missense_Mutation_p.E182Q	p.E1330Q	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		52	4459	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1330			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3988G>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443564	0.63067	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.76709	-1.04	5.35	5.35	0.76521	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.72624	2.21	0.80722	D	1	P;D	0.89917	0.915;1.0	P;D	0.87578	0.801;0.998	D	0.88296	0.2946	10	0.72032	D	0.01	.	19.9544	0.97215	0.0:0.0:1.0:0.0	.	182;1330	B4DTF5;P08123	.;CO1A2_HUMAN	Q	1330;1331	ENSP00000297268:E1330Q	ENSP00000297268:E1330Q	E	+	1	0	COL1A2	93897528	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	GAA		0.388	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		53	40	0	0	0	0.00361	0	53	40				
DLX5	1749	broad.mit.edu	37	7	96651669	96651669	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:96651669G>T	ENST00000222598.4	-	2	841	c.368C>A	c.(367-369)aCc>aAc	p.T123N	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.T123N	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	123					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCGGGCTCGGTCACTTCTTT	0.443																																							uc003uon.2		NA																	0				ovary(1)	1						c.(367-369)ACC>AAC		distal-less homeobox 5							107.0	105.0	106.0					7																	96651669		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96651669G>T		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.368C>A	7.37:g.96651669G>T	ENSP00000222598:p.Thr123Asn					DLX5_uc011kim.1_Missense_Mutation_p.T123N	p.T123N	NM_005221	NP_005212	P56178	DLX5_HUMAN			2	576	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		123					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.368C>A	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286114	0.40394	.	.	ENSG00000105880	ENST00000222598	D	0.89343	-2.5	5.28	5.28	0.74379	.	0.317805	0.33753	N	0.004582	T	0.80613	0.4656	N	0.14661	0.345	0.25286	N	0.989397	B;B	0.02656	0.0;0.0	B;B	0.09377	0.0;0.004	T	0.59862	-0.7374	10	0.15952	T	0.53	-2.2199	18.7072	0.91643	0.0:0.0:1.0:0.0	.	123;123	B7Z4P3;P56178	.;DLX5_HUMAN	N	123	ENSP00000222598:T123N	ENSP00000222598:T123N	T	-	2	0	DLX5	96489605	0.062000	0.20869	1.000000	0.80357	0.946000	0.59487	2.467000	0.45093	2.752000	0.94435	0.467000	0.42956	ACC		0.443	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			21	52	1	0	2.32416e-17	0.002299	3.82613e-17	21	52				
TRRAP	8295	broad.mit.edu	37	7	98564763	98564763	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:98564763G>C	ENST00000359863.4	+	49	7464	c.7255G>C	c.(7255-7257)Gat>Cat	p.D2419H	TRRAP_ENST00000446306.3_Missense_Mutation_p.D2401H|TRRAP_ENST00000355540.3_Missense_Mutation_p.D2401H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2419					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.D2419H(1)|p.D2401H(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGTTTTTAGATCTTGTTAA	0.418																																							uc003upp.2		NA																	2	Substitution - Missense(2)		breast(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(7255-7257)GAT>CAT		transformation/transcription domain-associated							105.0	112.0	110.0					7																	98564763		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98564763G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7255G>C	7.37:g.98564763G>C	ENSP00000352925:p.Asp2419His					TRRAP_uc011kis.1_Missense_Mutation_p.D2401H|TRRAP_uc003upr.2_Missense_Mutation_p.D2118H	p.D2419H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		49	7464	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2419					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.7255G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.060506|5.060506	0.93846|0.93846	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03152|.	4.03;4.03|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.047140|.	0.85682|.	D|.	0.000000|.	T|.	0.73345|.	0.3575|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;P;P|.	0.49559|.	0.925;0.694;0.883|.	P;B;P|.	0.48141|.	0.568;0.444;0.467|.	T|.	0.66716|.	-0.5853|.	10|.	0.66056|.	D|.	0.02|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2401;2140;2419|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	H|Y	2419;2401;2400|2140	ENSP00000352925:D2419H;ENSP00000347733:D2401H|.	ENSP00000347733:D2401H|.	D|X	+|+	1|3	0|2	TRRAP|TRRAP	98402699|98402699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|TAG		0.418	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		41	89	0	0	0	0.007835	0	41	89				
TRRAP	8295	broad.mit.edu	37	7	98586464	98586464	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:98586464G>C	ENST00000359863.4	+	62	9687	c.9478G>C	c.(9478-9480)Ggc>Cgc	p.G3160R	TRRAP_ENST00000446306.3_Missense_Mutation_p.G3131R|TRRAP_ENST00000355540.3_Missense_Mutation_p.G3131R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3160	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCATGTGGGGCGACTACCT	0.577																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(9478-9480)GGC>CGC		transformation/transcription domain-associated							98.0	98.0	98.0					7																	98586464		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98586464G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9478G>C	7.37:g.98586464G>C	ENSP00000352925:p.Gly3160Arg					TRRAP_uc011kis.1_Missense_Mutation_p.G3131R|TRRAP_uc003upr.2_Missense_Mutation_p.G2848R	p.G3160R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		62	9687	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3160			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9478G>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719692	0.89205	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.70986	-0.53;-0.53	5.32	4.45	0.53987	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.86678	0.5990	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.89469	0.3742	10	0.87932	D	0	.	13.9207	0.63930	0.0733:0.0:0.9267:0.0	.	3131;2870;3160	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	R	3160;3131;3130	ENSP00000352925:G3160R;ENSP00000347733:G3131R	ENSP00000347733:G3131R	G	+	1	0	TRRAP	98424400	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.790000	0.99075	1.250000	0.43966	0.655000	0.94253	GGC		0.577	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		14	36	0	0	0	0.001855	0	14	36				
MEPCE	56257	broad.mit.edu	37	7	100028156	100028156	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100028156G>C	ENST00000310512.2	+	1	903	c.515G>C	c.(514-516)cGg>cCg	p.R172P	ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_Intron	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	172					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCGCAGGCGGGTGAATTCG	0.592																																							uc003uuw.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(514-516)CGG>CCG		bin3, bicoid-interacting 3							41.0	45.0	44.0					7																	100028156		2201	4294	6495	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028156G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.515G>C	7.37:g.100028156G>C	ENSP00000308546:p.Arg172Pro					ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_Intron	p.R172P	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN			1	628	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		172					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.515G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923833	0.73213	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000001	T	0.68495	0.3007	L	0.42245	1.32	0.54753	D	0.999986	D	0.76494	0.999	D	0.85130	0.997	T	0.69771	-0.5055	9	0.52906	T	0.07	-10.9347	14.9171	0.70807	0.0:0.0:1.0:0.0	.	172	Q7L2J0	MEPCE_HUMAN	P	172	.	ENSP00000308546:R172P	R	+	2	0	MEPCE	99866092	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.501000	0.90501	2.389000	0.81357	0.561000	0.74099	CGG		0.592	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			13	61	0	0	0	0.001855	0	13	61				
ZAN	7455	broad.mit.edu	37	7	100355873	100355873	+	RNA	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100355873T>C	ENST00000348028.3	+	0	3523				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_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)				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)			TTGCCGCTGCTGGCCCGGCAG	0.577																																							uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(3358-3360)TGG>CGG		zonadhesin isoform 3							35.0	39.0	37.0					7																	100355873		2072	4215	6287			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100355873T>C	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.100355873T>C						ZAN_uc003uwk.2_Missense_Mutation_p.W1120R|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.W1120R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		16	3523	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1120			VWFC 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.3358T>C		.	.	.	.	.	.	.	.	.	.	T	9.442	1.088258	0.20390	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.04406	3.63;3.63;3.63	4.21	-2.73	0.05950	.	2.318670	0.01779	N	0.031677	T	0.02304	0.0071	N	0.10733	0.035	0.19300	N	0.999977	B;B	0.12630	0.005;0.006	B;B	0.10450	0.003;0.005	T	0.39035	-0.9633	10	0.16420	T	0.52	.	0.8545	0.01179	0.1749:0.3095:0.1619:0.3538	.	1120;1120	F5H0T8;Q9Y493	.;ZAN_HUMAN	R	1120	ENSP00000445943:W1120R;ENSP00000445091:W1120R;ENSP00000444427:W1120R	ENSP00000423579:W1120R	W	+	1	0	ZAN	100193809	0.003000	0.15002	0.001000	0.08648	0.018000	0.09664	-0.488000	0.06497	-0.475000	0.06852	0.533000	0.62120	TGG		0.577	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		9	21	0	0	0	0.004482	0	9	21				
EPHB4	2050	broad.mit.edu	37	7	100421849	100421849	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100421849C>A	ENST00000358173.3	-	2	567	c.99G>T	c.(97-99)gtG>gtT	p.V33V	EPHB4_ENST00000360620.3_Silent_p.V33V|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	33	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGGGAATGTCACCCACTTCA	0.597																																					GBM(200;2113 3072 25865 52728)	GBM(200;2113 3072 25865 52728)	uc003uwn.1		NA																	0				lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(97-99)GTG>GTT		EPH receptor B4 precursor							145.0	141.0	142.0					7																	100421849		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421849C>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.99G>T	7.37:g.100421849C>A						EPHB4_uc003uwm.1_5'UTR|EPHB4_uc010lhj.1_Silent_p.V33V|EPHB4_uc011kkf.1_Silent_p.V33V|EPHB4_uc011kkg.1_Silent_p.V33V|EPHB4_uc011kkh.1_Silent_p.V33V	p.V33V	NM_004444	NP_004435	P54760	EPHB4_HUMAN			2	590	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		33			Extracellular (Potential).		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.99G>T	CCDS5706.1																																																																																				0.597	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		74	52	1	0	6.83469e-46	0.00361	1.43761e-45	74	52				
SLC12A9	56996	broad.mit.edu	37	7	100459382	100459383	+	Missense_Mutation	DNP	GG	GG	TT	rs139020194		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100459382_100459383GG>TT	ENST00000354161.3	+	12	1685_1686	c.1560_1561GG>TT	c.(1558-1563)ctGGac>ctTTac	p.D521Y	SLC12A9_ENST00000415287.1_Missense_Mutation_p.D432Y|SLC12A9_ENST00000275729.3_Missense_Mutation_p.D432Y|SLC12A9_ENST00000428758.1_Missense_Mutation_p.D521Y|SLC12A9_ENST00000540482.1_Missense_Mutation_p.D521Y	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	521					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTTCGGCTGGACGTCCGGAA	0.653																																							uc003uwp.2		NA																	0					0						c.(1558-1563)CTGGAC>CTTTAC		solute carrier family 12 (potassium/chloride																																				SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459382_100459383GG>TT	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	Exception_encountered	7.37:g.100459382_100459383delinsTT	ENSP00000275730:p.Asp521Tyr					SLC12A9_uc003uwq.2_Missense_Mutation_p.D432Y|SLC12A9_uc011kki.1_Missense_Mutation_p.D52Y|SLC12A9_uc003uwr.2_Missense_Mutation_p.D257Y|SLC12A9_uc003uws.2_Missense_Mutation_p.D52Y|SLC12A9_uc003uwt.2_Missense_Mutation_p.D257Y|SLC12A9_uc003uwv.2_Missense_Mutation_p.D52Y	p.D521Y	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			12	1702_1703	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		521			Extracellular (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	DNP	ENST00000354161.3	37	c.1560_1561GG>TT	CCDS5707.1																																																																																				0.653	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		33	84	0	0	0	0.004672	0	33	84				
MUC17	140453	broad.mit.edu	37	7	100678238	100678238	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100678238T>A	ENST00000306151.4	+	3	3605	c.3541T>A	c.(3541-3543)Tca>Aca	p.S1181T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1181	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)					TAACACCCTTTCAACAACTCC	0.527																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3541-3543)TCA>ACA		mucin 17 precursor							329.0	285.0	300.0					7																	100678238		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678238T>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.3541T>A	7.37:g.100678238T>A	ENSP00000302716:p.Ser1181Thr					MUC17_uc010lho.1_RNA	p.S1181T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3594	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1181			Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3541T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	1.003	-0.690453	0.03303	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	0.838	-1.68	0.08212	.	.	.	.	.	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.49698	-0.8912	9	0.11182	T	0.66	.	2.5746	0.04803	0.254:0.0:0.2218:0.5242	.	1181	Q685J3	MUC17_HUMAN	T	1181	ENSP00000302716:S1181T	ENSP00000302716:S1181T	S	+	1	0	MUC17	100464958	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.088000	0.03379	-1.462000	0.01907	0.113000	0.15668	TCA		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		285	438	0	0	0	0.00361	0	285	438				
MUC17	140453	broad.mit.edu	37	7	100678938	100678938	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100678938G>C	ENST00000306151.4	+	3	4305	c.4241G>C	c.(4240-4242)aGc>aCc	p.S1414T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1414	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)					TCTGAGGCTAGCACCCTTTCA	0.512																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4240-4242)AGC>ACC		mucin 17 precursor							270.0	274.0	272.0					7																	100678938		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678938G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4241G>C	7.37:g.100678938G>C	ENSP00000302716:p.Ser1414Thr					MUC17_uc010lho.1_RNA	p.S1414T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4294	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1414			Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4241G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.618474	0.00828	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	0.838	-1.68	0.08212	.	.	.	.	.	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.50013	-0.8877	9	0.07990	T	0.79	.	3.7007	0.08382	0.2319:0.2363:0.5318:0.0	.	1414	Q685J3	MUC17_HUMAN	T	1414	ENSP00000302716:S1414T	ENSP00000302716:S1414T	S	+	2	0	MUC17	100465658	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.883000	0.01623	-2.254000	0.00697	-2.047000	0.00414	AGC		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		126	381	0	0	0	0.00361	0	126	381				
MUC17	140453	broad.mit.edu	37	7	100687100	100687100	+	Splice_Site	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:100687100T>A	ENST00000306151.4	+	3	12467	c.12403T>A	c.(12403-12405)Tgc>Agc	p.C4135S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4135	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)					AACCACAACATGTAAGTGATT	0.438																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(12403-12405)TGC>AGC		mucin 17 precursor							89.0	92.0	91.0					7																	100687100		2203	4300	6503	SO:0001630	splice_region_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100687100T>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.12403+1T>A	7.37:g.100687100T>A						MUC17_uc010lho.1_RNA	p.C4135S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	12456	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4135			Extracellular (Potential).|EGF-like.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12403T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.382	-0.928064	0.02377	.	.	ENSG00000169876	ENST00000306151	T	0.01902	4.57	0.303	-0.607	0.11615	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.01489	0.0048	N	0.22421	0.69	0.25954	N	0.982712	B	0.15141	0.012	B	0.01281	0.0	T	0.48801	-0.9003	8	0.21540	T	0.41	.	.	.	.	.	4135	Q685J3	MUC17_HUMAN	S	4135	ENSP00000302716:C4135S	ENSP00000302716:C4135S	C	+	1	0	MUC17	100473820	0.001000	0.12720	0.105000	0.21289	0.092000	0.18411	-2.871000	0.00720	-0.853000	0.04136	-0.913000	0.02753	TGC		0.438	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	Missense_Mutation	25	20	0	0	0	0.00333	0	25	20				
NAPEPLD	222236	broad.mit.edu	37	7	102760610	102760610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:102760610C>A	ENST00000417955.1	-	3	509	c.355G>T	c.(355-357)Gga>Tga	p.G119*	NAPEPLD_ENST00000427257.1_Nonsense_Mutation_p.G119*|NAPEPLD_ENST00000341533.4_Nonsense_Mutation_p.G119*|NAPEPLD_ENST00000465647.1_Nonsense_Mutation_p.G119*|NAPEPLD_ENST00000455523.2_Nonsense_Mutation_p.G192*			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	119					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCCTCACTCCAGCTTCTTCA	0.433																																							uc003vbc.2		NA																	0				skin(1)	1						c.(355-357)GGA>TGA		N-acyl phosphatidylethanolamine phospholipase D							118.0	110.0	113.0					7																	102760610		2203	4300	6503	SO:0001587	stop_gained	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102760610C>A	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.355G>T	7.37:g.102760610C>A	ENSP00000407112:p.Gly119*					NAPEPLD_uc003vbd.2_Nonsense_Mutation_p.G119*|NAPEPLD_uc011klj.1_Nonsense_Mutation_p.G192*|NAPEPLD_uc003vbe.2_RNA	p.G119*	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN			3	683	-			119					Q5CZ87|Q769K1	Nonsense_Mutation	SNP	ENST00000417955.1	37	c.355G>T	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	C	39	7.527567	0.98339	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523;ENST00000418294	.	.	.	6.02	4.19	0.49359	.	0.191735	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-43.6001	11.8364	0.52327	0.0:0.8109:0.1234:0.0658	.	.	.	.	X	119;119;119;119;192;119	.	ENSP00000340093:G119X	G	-	1	0	NAPEPLD	102547846	0.998000	0.40836	0.474000	0.27266	0.962000	0.63368	4.892000	0.63193	0.846000	0.35142	-0.136000	0.14681	GGA		0.433	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		31	71	1	0	3.00307e-07	0.008361	3.63019e-07	31	71				
RELN	5649	broad.mit.edu	37	7	103155724	103155724	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103155724C>T	ENST00000428762.1	-	50	8186	c.8027G>A	c.(8026-8028)aGc>aAc	p.S2676N	RELN_ENST00000343529.5_Missense_Mutation_p.S2676N|RELN_ENST00000424685.2_Missense_Mutation_p.S2676N|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2676					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACTGGGGCGCTGCTGAAGGT	0.547																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(8026-8028)AGC>AAC		reelin isoform a							53.0	47.0	49.0					7																	103155724		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.chr7:103155724C>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.8027G>A	7.37:g.103155724C>T	ENSP00000392423:p.Ser2676Asn					RELN_uc010liz.2_Missense_Mutation_p.S2676N	p.S2676N	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	50	8187	-			2676					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8027G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865563	0.71949	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.23147	1.92;1.92;1.92	5.26	4.37	0.52481	Neuraminidase (2);	0.142257	0.64402	D	0.000004	T	0.22205	0.0535	N	0.22421	0.69	0.40327	D	0.97888	P;B	0.37141	0.584;0.015	B;B	0.40101	0.319;0.027	T	0.07121	-1.0789	10	0.48119	T	0.1	.	15.5934	0.76558	0.0:0.8503:0.1496:0.0	.	2676;2676	P78509-2;P78509	.;RELN_HUMAN	N	2676;2676;2676;193;2676	ENSP00000392423:S2676N;ENSP00000345694:S2676N;ENSP00000388446:S2676N	ENSP00000345694:S2676N	S	-	2	0	RELN	102942960	1.000000	0.71417	0.942000	0.38095	0.998000	0.95712	4.481000	0.60250	1.411000	0.46957	0.643000	0.83706	AGC		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	31	0	0	0	0.001368	0	12	31				
RELN	5649	broad.mit.edu	37	7	103193922	103193922	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103193922T>C	ENST00000428762.1	-	40	6217	c.6058A>G	c.(6058-6060)Atc>Gtc	p.I2020V	RELN_ENST00000424685.2_Missense_Mutation_p.I2020V|RELN_ENST00000343529.5_Missense_Mutation_p.I2020V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2020					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATTGTATGATGGTGTTCTCA	0.348																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6058-6060)ATC>GTC		reelin isoform a							109.0	100.0	103.0					7																	103193922		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.chr7:103193922T>C		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.6058A>G	7.37:g.103193922T>C	ENSP00000392423:p.Ile2020Val					RELN_uc010liz.2_Missense_Mutation_p.I2020V	p.I2020V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	40	6218	-			2020					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6058A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	9.151	1.016204	0.19355	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	1.95;1.95;1.95	5.63	4.47	0.54385	Neuraminidase (1);	0.099985	0.64402	D	0.000002	T	0.16041	0.0386	L	0.33293	1	0.44175	D	0.996989	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.001	T	0.04678	-1.0934	10	0.30854	T	0.27	.	11.2875	0.49230	0.0:0.0713:0.0:0.9287	.	2020;2020	P78509-2;P78509	.;RELN_HUMAN	V	2020	ENSP00000392423:I2020V;ENSP00000345694:I2020V;ENSP00000388446:I2020V	ENSP00000345694:I2020V	I	-	1	0	RELN	102981158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.899000	0.56288	2.263000	0.75096	0.533000	0.62120	ATC		0.348	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	32	0	0	0	0.004482	0	7	32				
RELN	5649	broad.mit.edu	37	7	103202352	103202352	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103202352C>A	ENST00000428762.1	-	35	5418	c.5259G>T	c.(5257-5259)ggG>ggT	p.G1753G	RELN_ENST00000424685.2_Silent_p.G1753G|RELN_ENST00000343529.5_Silent_p.G1753G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1753					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGAATCAGCCCCCACAGTGT	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5257-5259)GGG>GGT		reelin isoform a							78.0	65.0	70.0					7																	103202352		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.chr7:103202352C>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.5259G>T	7.37:g.103202352C>A						RELN_uc010liz.2_Silent_p.G1753G	p.G1753G	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5419	-			1753					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5259G>T	CCDS47680.1																																																																																				0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	18	1	0	2.17888e-05	0.006214	2.46835e-05	10	18				
RELN	5649	broad.mit.edu	37	7	103275894	103275894	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103275894A>C	ENST00000428762.1	-	19	2602	c.2443T>G	c.(2443-2445)Tat>Gat	p.Y815D	RELN_ENST00000424685.2_Missense_Mutation_p.Y815D|RELN_ENST00000343529.5_Missense_Mutation_p.Y815D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	815					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGCTGAGATATGAATAATGC	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2443-2445)TAT>GAT		reelin isoform a							80.0	83.0	82.0					7																	103275894		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.chr7:103275894A>C		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.2443T>G	7.37:g.103275894A>C	ENSP00000392423:p.Tyr815Asp					RELN_uc010liz.2_Missense_Mutation_p.Y815D	p.Y815D	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	19	2603	-			815					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2443T>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033056	0.75504	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23754	1.89;1.89;1.89	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.52573	1.65	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.991	T	0.27806	-1.0063	10	0.45353	T	0.12	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	815;815	P78509-2;P78509	.;RELN_HUMAN	D	815	ENSP00000392423:Y815D;ENSP00000345694:Y815D;ENSP00000388446:Y815D	ENSP00000345694:Y815D	Y	-	1	0	RELN	103063130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.411000	0.90229	2.333000	0.79357	0.482000	0.46254	TAT		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		43	21	0	0	0	0.00874	0	43	21				
RELN	5649	broad.mit.edu	37	7	103474000	103474000	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103474000C>A	ENST00000428762.1	-	3	616	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	RELN_ENST00000424685.2_Missense_Mutation_p.G153C|RELN_ENST00000343529.5_Missense_Mutation_p.G153C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	153	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCACACAGCCTGTGCCCGCA	0.453																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(457-459)GGC>TGC		reelin isoform a							106.0	97.0	100.0					7																	103474000		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.chr7:103474000C>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.457G>T	7.37:g.103474000C>A	ENSP00000392423:p.Gly153Cys					RELN_uc010liz.2_Missense_Mutation_p.G153C	p.G153C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	3	617	-			153			Reelin.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.457G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661293	0.88154	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.63580	-0.05;-0.05;-0.05	5.33	5.33	0.75918	Reeler domain (2);	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77953	-0.2394	10	0.87932	D	0	.	19.3931	0.94592	0.0:1.0:0.0:0.0	.	153;153	P78509-2;P78509	.;RELN_HUMAN	C	153	ENSP00000392423:G153C;ENSP00000345694:G153C;ENSP00000388446:G153C	ENSP00000345694:G153C	G	-	1	0	RELN	103261236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.956000	0.76013	2.634000	0.89283	0.650000	0.86243	GGC		0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		14	50	1	0	5.01169e-05	0.00499	5.58424e-05	14	50				
LHFPL3	375612	broad.mit.edu	37	7	103969335	103969335	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:103969335C>T	ENST00000401970.2	+	1	188	c.66C>T	c.(64-66)atC>atT	p.I22I	LHFPL3_ENST00000424859.1_Silent_p.I22I|LHFPL3_ENST00000535008.1_Silent_p.I36I|LHFPL3_ENST00000543266.1_Silent_p.I36I			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	36						integral component of membrane (GO:0016021)		p.I36I(1)		kidney(1)|large_intestine(2)|lung(6)	9						CGCGGGCCATCGGCGTGCTGT	0.672																																							uc003vce.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(106-108)ATC>ATT		lipoma HMGIC fusion partner-like 3							65.0	78.0	74.0					7																	103969335		2201	4300	6501	SO:0001819	synonymous_variant	375612					integral to membrane		g.chr7:103969335C>T	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.66C>T	7.37:g.103969335C>T						LHFPL3_uc003vcf.2_Silent_p.I36I	p.I36I	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			1	232	+			22			Helical; (Potential).		A1L383|A4D0Q5	Silent	SNP	ENST00000401970.2	37	c.108C>T																																																																																					0.672	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		10	29	0	0	0	0.000978	0	10	29				
LAMB4	22798	broad.mit.edu	37	7	107704242	107704242	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:107704242C>A	ENST00000388781.3	-	22	3108	c.3025G>T	c.(3025-3027)Ggt>Tgt	p.G1009C	LAMB4_ENST00000205386.4_Missense_Mutation_p.G1009C|LAMB4_ENST00000388780.3_Missense_Mutation_p.G1009C	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1009	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCATAGTGACCTGGTTTGCAG	0.522																																							uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(3025-3027)GGT>TGT		laminin, beta 4 precursor							180.0	155.0	163.0					7																	107704242		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107704242C>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3025G>T	7.37:g.107704242C>A	ENSP00000373433:p.Gly1009Cys					LAMB4_uc003vey.2_Missense_Mutation_p.G1009C|LAMB4_uc010ljp.1_Translation_Start_Site	p.G1009C	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			22	3109	-			1009			Laminin EGF-like 10.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3025G>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573724	0.65765	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.02	5.02	0.67125	EGF-like, laminin (4);	0.000000	0.52532	D	0.000071	D	0.89068	0.6610	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93062	0.6475	10	0.87932	D	0	.	18.5322	0.90996	0.0:1.0:0.0:0.0	.	1009	A4D0S4	LAMB4_HUMAN	C	1009;1009;35;1009	ENSP00000205386:G1009C;ENSP00000373433:G1009C;ENSP00000416562:G35C;ENSP00000373432:G1009C	ENSP00000205386:G1009C	G	-	1	0	LAMB4	107491478	1.000000	0.71417	0.233000	0.24025	0.289000	0.27227	7.112000	0.77086	2.606000	0.88127	0.655000	0.94253	GGT		0.522	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		36	103	1	0	1.47197e-15	0.007835	2.30592e-15	36	103				
NRCAM	4897	broad.mit.edu	37	7	107872866	107872866	+	Nonsense_Mutation	SNP	C	C	A	rs140770274	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:107872866C>A	ENST00000425651.2	-	4	330	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	NRCAM_ENST00000351718.4_Nonsense_Mutation_p.E105*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.E111*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.E111*|NRCAM_ENST00000413765.2_Nonsense_Mutation_p.E111*|NRCAM_ENST00000379028.3_Nonsense_Mutation_p.E111*	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	111	Ig-like 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GCTTTCCCTTCGCTCATGATG	0.473																																							uc003vfb.2		NA																	0				ovary(3)|breast(2)	5						c.(331-333)GAA>TAA		neuronal cell adhesion molecule isoform A							166.0	149.0	155.0					7																	107872866		2203	4300	6503	SO:0001587	stop_gained	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107872866C>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.331G>T	7.37:g.107872866C>A	ENSP00000401244:p.Glu111*					NRCAM_uc003vfc.2_Nonsense_Mutation_p.E105*|NRCAM_uc011kmk.1_Nonsense_Mutation_p.E106*|NRCAM_uc003vfd.2_Nonsense_Mutation_p.E106*|NRCAM_uc003vfe.2_Nonsense_Mutation_p.E106*	p.E111*	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			7	802	-			111			Ig-like 1.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	ENST00000425651.2	37	c.331G>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	37	6.303742	0.97458	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431	.	.	.	5.28	5.28	0.74379	.	0.152623	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	19.2776	0.94038	0.0:1.0:0.0:0.0	.	.	.	.	X	111;111;111;111;105;111;111;111;105;105;111;105;105	.	ENSP00000325269:E105X	E	-	1	0	NRCAM	107660102	1.000000	0.71417	0.306000	0.25113	0.445000	0.32107	6.022000	0.70839	2.611000	0.88343	0.655000	0.94253	GAA		0.473	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		37	86	1	0	2.05212e-20	0.005524	3.59879e-20	37	86				
DOCK4	9732	broad.mit.edu	37	7	111509684	111509684	+	Nonsense_Mutation	SNP	G	G	T	rs200120389		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:111509684G>T	ENST00000437633.1	-	21	2311	c.2055C>A	c.(2053-2055)taC>taA	p.Y685*	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Nonsense_Mutation_p.Y685*	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	685					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.Y673*(1)|p.Y685*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCCGGTCCACGTACCATTTGA	0.423																																							uc003vfx.2		NA																	2	Substitution - Nonsense(2)		endometrium(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(2053-2055)TAC>TAA		dedicator of cytokinesis 4							151.0	134.0	140.0					7																	111509684		1973	4168	6141	SO:0001587	stop_gained	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111509684G>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2055C>A	7.37:g.111509684G>T	ENSP00000404179:p.Tyr685*					DOCK4_uc003vfw.2_Nonsense_Mutation_p.Y126*|DOCK4_uc003vfy.2_Nonsense_Mutation_p.Y685*|DOCK4_uc003vga.1_Nonsense_Mutation_p.Y290*	p.Y685*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			21	2324	-		Acute lymphoblastic leukemia(1;0.0441)	685					O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	c.2055C>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.616712|5.616712	0.96649|0.96649	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|.	.|.	.|.	5.3|5.3	-9.47|-9.47	0.00594|0.00594	.|.	.|0.320500	.|0.34750	.|N	.|0.003717	T|.	0.33904|.	0.0879|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48127|.	-0.9062|.	4|.	.|0.02654	.|T	.|1	.|.	16.0849|16.0849	0.81038|0.81038	0.4039:0.0:0.5961:0.0|0.4039:0.0:0.5961:0.0	.|.	.|.	.|.	.|.	K|X	137;673|673;685;685;673;684	.|.	.|ENSP00000345432:Y673X	T|Y	-|-	2|3	0|2	DOCK4|DOCK4	111296920|111296920	0.872000|0.872000	0.30054|0.30054	0.654000|0.654000	0.29608|0.29608	0.978000|0.978000	0.69477|0.69477	0.089000|0.089000	0.15002|0.15002	-2.119000|-2.119000	0.00827|0.00827	-1.126000|-1.126000	0.01995|0.01995	ACG|TAC		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		16	51	1	0	3.32936e-07	0.006122	4.00085e-07	16	51				
ZNF277	11179	broad.mit.edu	37	7	111926927	111926927	+	Splice_Site	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:111926927G>C	ENST00000361822.3	+	2	220		c.e2-1		ZNF277_ENST00000421043.1_Splice_Site|RN7SKP187_ENST00000365536.1_RNA|ZNF277_ENST00000450657.1_Splice_Site	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277						cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GTCTATTCCAGACAGTAAGGA	0.403																																							uc003vge.2		NA																	0				ovary(2)|breast(2)	4						c.e2-1		zinc finger protein (C2H2 type) 277							34.0	31.0	32.0					7																	111926927		2203	4300	6503	SO:0001630	splice_region_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111926927G>C	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.92-1G>C	7.37:g.111926927G>C						ZNF277_uc003vgd.2_Splice_Site_p.D31_splice|ZNF277_uc003vgf.2_Intron|ZNF277_uc003vgc.2_Splice_Site_p.D31_splice	p.D31_splice	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN			2	221	+								Q75MZ2|Q75MZ3|Q8WY14	Splice_Site	SNP	ENST00000361822.3	37	c.92_splice	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751881	0.69533	.	.	ENSG00000198839	ENST00000361822;ENST00000421043;ENST00000425229;ENST00000450657	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.976	0.92736	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF277	111714163	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	6.182000	0.71995	2.780000	0.95670	0.650000	0.86243	.		0.403	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994	Intron	5	12	0	0	0	0.000602	0	5	12				
TMEM168	64418	broad.mit.edu	37	7	112407276	112407276	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:112407276T>A	ENST00000312814.6	-	5	2630	c.2070A>T	c.(2068-2070)caA>caT	p.Q690H	TMEM168_ENST00000454074.1_Missense_Mutation_p.Q690H	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	690						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GTTTGAAGCCTTGTCCTGTGT	0.373																																							uc003vgn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2068-2070)CAA>CAT		transmembrane protein 168							56.0	54.0	54.0					7																	112407276		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112407276T>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.2070A>T	7.37:g.112407276T>A	ENSP00000323068:p.Gln690His					TMEM168_uc010lju.2_Missense_Mutation_p.Q690H|TMEM168_uc011kmr.1_Missense_Mutation_p.Q306H	p.Q690H	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			5	2462	-			690					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.2070A>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	T	9.819	1.185133	0.21870	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.72	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	L	0.32530	0.975	0.54753	D	0.999989	B	0.31459	0.324	B	0.25987	0.065	T	0.14699	-1.0463	9	0.05351	T	0.99	-16.7157	9.325	0.37988	0.0:0.1556:0.0:0.8444	.	690	Q9H0V1	TM168_HUMAN	H	690;690;306;251	.	ENSP00000323068:Q690H	Q	-	3	2	TMEM168	112194512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.093000	0.30939	0.991000	0.38814	0.482000	0.46254	CAA		0.373	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		12	40	0	0	0	0.001368	0	12	40				
C7orf60	154743	broad.mit.edu	37	7	112462099	112462099	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:112462099C>A	ENST00000297145.4	-	5	1083	c.918G>T	c.(916-918)aaG>aaT	p.K306N	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	306							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ATTTTGAGTACTTGAAGCGTT	0.388																																							uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.(916-918)AAG>AAT		hypothetical protein LOC154743							88.0	79.0	82.0					7																	112462099		1826	4089	5915	SO:0001583	missense	154743							g.chr7:112462099C>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.918G>T	7.37:g.112462099C>A	ENSP00000297145:p.Lys306Asn					C7orf60_uc011kms.1_Missense_Mutation_p.K332N	p.K306N	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			5	1045	-			306					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.918G>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807074	0.50421	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.92	4.12	0.48240	.	0.142453	0.64402	D	0.000004	T	0.66396	0.2785	M	0.68317	2.08	0.54753	D	0.99998	B;D	0.56287	0.22;0.975	B;P	0.57679	0.27;0.825	T	0.67205	-0.5729	9	0.72032	D	0.01	-3.0536	8.3952	0.32553	0.0:0.7377:0.1268:0.1355	.	253;306	B4DST1;Q1RMZ1	.;CG060_HUMAN	N	306;288;253	.	ENSP00000297145:K306N	K	-	3	2	C7orf60	112249335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.642000	0.37207	0.828000	0.34709	0.650000	0.86243	AAG		0.388	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		38	20	1	0	1.07637e-12	0.004878	1.56883e-12	38	20				
PPP1R3A	5506	broad.mit.edu	37	7	113520171	113520171	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:113520171G>T	ENST00000284601.3	-	4	1044	c.976C>A	c.(976-978)Cac>Aac	p.H326N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	326					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTATTAAGTGTTGATTTATC	0.303																																							uc010ljy.1		NA																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(976-978)CAC>AAC		protein phosphatase 1, regulatory (inhibitor)							68.0	67.0	68.0					7																	113520171		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113520171G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.976C>A	7.37:g.113520171G>T	ENSP00000284601:p.His326Asn						p.H326N	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1007	-			326					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.976C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.107057	0.01813	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.35789	2.42;1.29	5.41	1.5	0.22942	.	1.069440	0.07287	N	0.871699	T	0.25568	0.0622	L	0.47716	1.5	0.09310	N	1	B	0.21821	0.061	B	0.14023	0.01	T	0.31223	-0.9951	10	0.02654	T	1	-1.7726	6.3534	0.21389	0.2143:0.2458:0.5399:0.0	.	326	Q16821	PPR3A_HUMAN	N	326;5	ENSP00000284601:H326N;ENSP00000401278:H5N	ENSP00000284601:H326N	H	-	1	0	PPP1R3A	113307407	0.980000	0.34600	0.338000	0.25549	0.963000	0.63663	1.865000	0.39479	0.346000	0.23899	0.650000	0.86243	CAC		0.303	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		16	41	1	0	1.37285e-15	0.004007	2.1554e-15	16	41				
TES	26136	broad.mit.edu	37	7	115890435	115890435	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:115890435G>T	ENST00000358204.4	+	4	802	c.587G>T	c.(586-588)tGt>tTt	p.C196F	TES_ENST00000393481.2_Missense_Mutation_p.C187F|TES_ENST00000537767.1_Intron|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	196	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAACTTCCCTGTGAGATGGAT	0.517																																							uc003vho.2		NA																	0					0						c.(586-588)TGT>TTT		testin isoform 1							73.0	76.0	75.0					7																	115890435		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115890435G>T	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.587G>T	7.37:g.115890435G>T	ENSP00000350937:p.Cys196Phe					TES_uc011kmy.1_Intron|TES_uc003vhp.2_Missense_Mutation_p.C187F|uc003vhq.1_5'Flank	p.C196F	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		4	768	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	196			PET.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.587G>T	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	G	8.341	0.828759	0.16749	.	.	ENSG00000135269	ENST00000358204;ENST00000257721;ENST00000393481	T;T	0.59638	0.25;0.25	5.49	-1.55	0.08558	PET domain (1);	0.925337	0.09277	N	0.824316	T	0.37348	0.1000	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20075	-1.0286	10	0.19147	T	0.46	2.0605	6.2555	0.20872	0.2992:0.3828:0.318:0.0	.	196	Q9UGI8	TES_HUMAN	F	196;196;187	ENSP00000350937:C196F;ENSP00000377121:C187F	ENSP00000257721:C196F	C	+	2	0	TES	115677671	0.027000	0.19231	0.187000	0.23214	0.818000	0.46254	0.776000	0.26704	-0.495000	0.06659	-0.175000	0.13238	TGT		0.517	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		26	51	1	0	1.55469e-16	0.00333	2.49311e-16	26	51				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000422922.1_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000393451.3_3'UTR|ST7_ENST00000393447.4_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393449.1_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																							uc011knn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		6	25	0	0	0	0.00361	0	6	25				
KCND2	3751	broad.mit.edu	37	7	119915317	119915317	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:119915317T>A	ENST00000331113.4	+	1	1596	c.631T>A	c.(631-633)Tca>Aca	p.S211T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	211					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCCGTGCGGATCAAGCCCAGG	0.547																																							uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(631-633)TCA>ACA		potassium voltage-gated channel, Shal-related							119.0	109.0	112.0					7																	119915317		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915317T>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.631T>A	7.37:g.119915317T>A	ENSP00000333496:p.Ser211Thr						p.S211T	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1596	+	all_neural(327;0.117)		211					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.631T>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.526752	0.00959	.	.	ENSG00000184408	ENST00000331113	D	0.96716	-4.1	5.58	4.42	0.53409	.	0.225856	0.37715	N	0.001968	D	0.85890	0.5802	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74797	-0.3543	9	.	.	.	.	7.5668	0.27883	0.1204:0.0:0.3441:0.5355	.	211	Q9NZV8	KCND2_HUMAN	T	211	ENSP00000333496:S211T	.	S	+	1	0	KCND2	119702553	0.006000	0.16342	0.321000	0.25320	0.407000	0.30961	0.676000	0.25247	0.937000	0.37394	0.460000	0.39030	TCA		0.547	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		17	48	0	0	0	0.006122	0	17	48				
WASL	8976	broad.mit.edu	37	7	123334896	123334896	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:123334896C>T	ENST00000223023.4	-	8	1031	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	233					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAAAAGATTCTTCAATTCTG	0.299																																							uc003vkz.2		NA																	0					0						c.(697-699)AAG>AAA		Wiskott-Aldrich syndrome gene-like protein							126.0	139.0	135.0					7																	123334896		2203	4299	6502	SO:0001819	synonymous_variant	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123334896C>T	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.699G>A	7.37:g.123334896C>T							p.K233K	NM_003941	NP_003932	O00401	WASL_HUMAN			8	1027	-			233					A1JUI9|Q7Z746	Silent	SNP	ENST00000223023.4	37	c.699G>A	CCDS34743.1																																																																																				0.299	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		104	78	0	0	0	0.00361	0	104	78				
WASL	8976	broad.mit.edu	37	7	123388756	123388756	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:123388756C>A	ENST00000223023.4	-	1	365	c.33G>T	c.(31-33)ccG>ccT	p.P11P	RP11-390E23.6_ENST00000607957.1_RNA	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	11					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGACCCTCCGCGGCGGCGGCG	0.672																																							uc003vkz.2		NA																	0					0						c.(31-33)CCG>CCT		Wiskott-Aldrich syndrome gene-like protein							27.0	26.0	26.0					7																	123388756		2202	4299	6501	SO:0001819	synonymous_variant	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123388756C>A	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.33G>T	7.37:g.123388756C>A						uc003vla.2_5'Flank	p.P11P	NM_003941	NP_003932	O00401	WASL_HUMAN			1	361	-			11					A1JUI9|Q7Z746	Silent	SNP	ENST00000223023.4	37	c.33G>T	CCDS34743.1																																																																																				0.672	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		9	11	1	0	0.000274275	0.004482	0.000296559	9	11				
HYAL4	23553	broad.mit.edu	37	7	123516864	123516864	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:123516864C>A	ENST00000223026.4	+	5	1739	c.1101C>A	c.(1099-1101)gcC>gcA	p.A367A	HYAL4_ENST00000476325.1_Silent_p.A367A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	367					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GCTACATAGCCAATGTGACCA	0.468																																							uc003vlc.2		NA																	0				skin(1)	1						c.(1099-1101)GCC>GCA		hyaluronoglucosaminidase 4							156.0	146.0	150.0					7																	123516864		2203	4300	6503	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123516864C>A	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.1101C>A	7.37:g.123516864C>A						HYAL4_uc011knz.1_3'UTR	p.A367A	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			5	1739	+			367			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.1101C>A	CCDS5789.1																																																																																				0.468	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		16	48	1	0	1.3612e-06	0.003163	1.61261e-06	16	48				
GRM8	2918	broad.mit.edu	37	7	126173616	126173616	+	Missense_Mutation	SNP	C	C	A	rs375382975		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:126173616C>A	ENST00000339582.2	-	9	2628	c.1820G>T	c.(1819-1821)cGc>cTc	p.R607L	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R607L|GRM8_ENST00000444921.2_Missense_Mutation_p.R607L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	607					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTCATTATAGCGGACAAAGGT	0.453										HNSCC(24;0.065)																													uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1819-1821)CGC>CTC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						123.0	114.0	117.0					7																	126173616		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173616C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1820G>T	7.37:g.126173616C>A	ENSP00000344173:p.Arg607Leu	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R607L|GRM8_uc010lkz.1_RNA	p.R607L	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2131	-		Prostate(267;0.186)	607			Helical; Name=1; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1820G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760194	0.69763	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88741	-2.42;-2.42;-2.42	5.73	5.73	0.89815	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	M	0.80028	2.48	0.80722	D	1	D;P	0.61697	0.99;0.791	P;P	0.58454	0.839;0.597	D	0.94263	0.7504	10	0.87932	D	0	.	18.8976	0.92430	0.0:1.0:0.0:0.0	.	607;607	O00222-2;O00222	.;GRM8_HUMAN	L	607	ENSP00000344173:R607L;ENSP00000409790:R607L;ENSP00000351142:R607L	ENSP00000344173:R607L	R	-	2	0	GRM8	125960852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	2.723000	0.93209	0.643000	0.83706	CGC		0.453	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			18	41	1	0	0.000958276	0.007413	0.00101835	18	41				
SND1	27044	broad.mit.edu	37	7	127338952	127338952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:127338952G>T	ENST00000354725.3	+	4	567	c.373G>T	c.(373-375)Gaa>Taa	p.E125*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	125	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AAACATTGCAGAATCACTGGT	0.473																																							uc003vmi.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(373-375)GAA>TAA		staphylococcal nuclease domain containing 1							90.0	85.0	87.0					7																	127338952		2203	4300	6503	SO:0001587	stop_gained	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127338952G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.373G>T	7.37:g.127338952G>T	ENSP00000346762:p.Glu125*						p.E125*	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			4	599	+			125			TNase-like 1.		Q13122|Q96AG0	Nonsense_Mutation	SNP	ENST00000354725.3	37	c.373G>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	36	5.798254	0.96960	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	.	.	.	6.06	6.06	0.98353	.	0.043699	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-27.6811	18.1182	0.89563	0.0:0.0:1.0:0.0	.	.	.	.	X	125;115	.	ENSP00000346762:E125X	E	+	1	0	SND1	127126188	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.489000	0.90461	2.879000	0.98667	0.650000	0.86243	GAA		0.473	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		18	21	1	0	8.10497e-08	0.010504	9.99262e-08	18	21				
FLNC	2318	broad.mit.edu	37	7	128494600	128494601	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:128494600_128494601GG>TT	ENST00000325888.8	+	41	7122_7123	c.6861_6862GG>TT	c.(6859-6864)acGGtc>acTTtc	p.V2288F	FLNC_ENST00000346177.6_Missense_Mutation_p.V2255F|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2288					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCCCATACGGTCGCTGTCAA	0.668																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(6859-6864)ACGGTC>ACTTTC		gamma filamin isoform a																																				SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494600_128494601GG>TT	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	Exception_encountered	7.37:g.128494600_128494601delinsTT	ENSP00000327145:p.Val2288Phe					FLNC_uc003voa.3_Missense_Mutation_p.V2255F	p.V2288F	NM_001458	NP_001449	Q14315	FLNC_HUMAN			41	7070_7071	+			2288			Filamin 20.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	DNP	ENST00000325888.8	37	c.6861_6862GG>TT	CCDS43644.1																																																																																				0.668	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			4	7	0	0	0	0.004672	0	4	7				
STRIP2	57464	broad.mit.edu	37	7	129093097	129093097	+	Missense_Mutation	SNP	G	G	T	rs199593322		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:129093097G>T	ENST00000249344.2	+	5	479	c.439G>T	c.(439-441)Gat>Tat	p.D147Y	STRIP2_ENST00000435494.2_Missense_Mutation_p.D147Y	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	147					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TTCAGAGGTCGATGTGCTACA	0.517																																							uc011koy.1		NA																	0					0						c.(439-441)GAT>TAT		hypothetical protein LOC57464 isoform a							282.0	229.0	247.0					7																	129093097		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129093097G>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.439G>T	7.37:g.129093097G>T	ENSP00000249344:p.Asp147Tyr					FAM40B_uc003vow.2_Missense_Mutation_p.D147Y	p.D147Y	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			5	479	+			147					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.439G>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619426	0.66787	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.47177	0.85;0.85	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.73598	2.24	0.80722	D	1	D;B	0.89917	1.0;0.048	D;B	0.91635	0.999;0.127	T	0.72421	-0.4299	10	0.87932	D	0	-20.146	17.289	0.87150	0.0:0.0:1.0:0.0	.	147;147	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	Y	147	ENSP00000249344:D147Y;ENSP00000392393:D147Y	ENSP00000249344:D147Y	D	+	1	0	FAM40B	128880333	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	9.416000	0.97383	2.698000	0.92095	0.561000	0.74099	GAT		0.517	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		33	37	1	0	4.65686e-17	0.003755	7.58738e-17	33	37				
KLHDC10	23008	broad.mit.edu	37	7	129765756	129765756	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:129765756C>T	ENST00000335420.5	+	7	1050	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	306						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TGCAACAAAACCCCATGAAAA	0.269																																							uc003vpj.1		NA																	0					0						c.(916-918)CCC>TCC		kelch domain containing 10							52.0	55.0	54.0					7																	129765756		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129765756C>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.916C>T	7.37:g.129765756C>T	ENSP00000334140:p.Pro306Ser					KLHDC10_uc003vpk.1_Missense_Mutation_p.P277S|KLHDC10_uc010lmb.1_Missense_Mutation_p.P203S	p.P306S	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN			7	1051	+			306			Kelch 4.		Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.916C>T	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713779	0.89112	.	.	ENSG00000128607	ENST00000335420	T	0.72835	-0.69	5.07	5.07	0.68467	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.80065	0.4555	M	0.69823	2.125	0.80722	D	1	D;P;D	0.57571	0.98;0.886;0.98	P;P;P	0.55577	0.714;0.494;0.779	T	0.80703	-0.1264	10	0.45353	T	0.12	-13.8929	17.7923	0.88558	0.0:1.0:0.0:0.0	.	155;163;306	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	S	306	ENSP00000334140:P306S	ENSP00000334140:P306S	P	+	1	0	KLHDC10	129552992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.341000	0.79300	2.489000	0.83994	0.585000	0.79938	CCC		0.269	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			10	10	0	0	0	0.001368	0	10	10				
TSGA13	114960	broad.mit.edu	37	7	130353886	130353886	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:130353886A>T	ENST00000456951.1	-	9	1647	c.796T>A	c.(796-798)Tgg>Agg	p.W266R	COPG2_ENST00000445977.2_5'Flank|TSGA13_ENST00000356588.3_Missense_Mutation_p.W266R			Q96PP4	TSG13_HUMAN	testis specific, 13	266										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TTGATAATCCACTGCGGGGCC	0.622																																							uc003vqi.2		NA																	0				ovary(2)	2						c.(796-798)TGG>AGG		testis specific, 13							121.0	136.0	131.0					7																	130353886		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130353886A>T	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.796T>A	7.37:g.130353886A>T	ENSP00000406047:p.Trp266Arg					COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Missense_Mutation_p.W266R	p.W266R	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			8	1253	-	Melanoma(18;0.0435)		266					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.796T>A	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.944744	0.34283	.	.	ENSG00000213265	ENST00000456951;ENST00000356588	.	.	.	5.51	4.36	0.52297	.	0.000000	0.46145	D	0.000312	T	0.40145	0.1105	L	0.32530	0.975	0.35173	D	0.771781	B	0.18013	0.025	B	0.23018	0.043	T	0.45366	-0.9266	9	0.48119	T	0.1	-7.9305	8.0974	0.30837	0.9084:0.0:0.0916:0.0	.	266	Q96PP4	TSG13_HUMAN	R	266	.	ENSP00000348996:W266R	W	-	1	0	TSGA13	130004426	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	2.996000	0.49449	0.932000	0.37266	0.459000	0.35465	TGG		0.622	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		86	101	0	0	0	0.00361	0	86	101				
CHCHD3	54927	broad.mit.edu	37	7	132709316	132709316	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:132709316C>T	ENST00000262570.5	-	3	385	c.241G>A	c.(241-243)Gat>Aat	p.D81N	CHCHD3_ENST00000448878.1_Missense_Mutation_p.D81N|CHCHD3_ENST00000542753.1_Missense_Mutation_p.D81N|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	81					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						CGTTTCTGATCTTCGGATTCT	0.383																																							uc003vre.2		NA																	0					0						c.(241-243)GAT>AAT		coiled-coil-helix-coiled-coil-helix domain							171.0	170.0	171.0					7																	132709316		2203	4300	6503	SO:0001583	missense	54927				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	g.chr7:132709316C>T	BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.241G>A	7.37:g.132709316C>T	ENSP00000262570:p.Asp81Asn					CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Missense_Mutation_p.D81N|CHCHD3_uc010lmj.2_5'UTR|CHCHD3_uc011kpn.1_Missense_Mutation_p.D81N	p.D81N	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN			3	377	-			81						Missense_Mutation	SNP	ENST00000262570.5	37	c.241G>A	CCDS5828.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.048604	0.00394	.	.	ENSG00000106554	ENST00000262570;ENST00000448878;ENST00000542753	T;T;T	0.41065	1.01;1.01;1.01	5.81	0.502	0.16932	.	0.845829	0.10936	N	0.617785	T	0.16385	0.0394	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.29058	-1.0024	10	0.15499	T	0.54	-1.0156	5.5644	0.17163	0.0:0.2053:0.2472:0.5475	.	81;81;81	G3V1K1;C9JRZ6;Q9NX63	.;.;CHCH3_HUMAN	N	81	ENSP00000262570:D81N;ENSP00000389297:D81N;ENSP00000440267:D81N	ENSP00000262570:D81N	D	-	1	0	CHCHD3	132359856	0.927000	0.31430	0.007000	0.13788	0.010000	0.07245	1.065000	0.30592	-0.068000	0.12953	-0.908000	0.02827	GAT		0.383	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812		47	70	0	0	0	0.00361	0	47	70				
EXOC4	60412	broad.mit.edu	37	7	132959880	132959880	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:132959880A>G	ENST00000253861.4	+	2	259	c.230A>G	c.(229-231)cAg>cGg	p.Q77R	EXOC4_ENST00000393161.2_Missense_Mutation_p.Q77R|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	77					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CGCACATACCAGAGCATCACA	0.468																																							uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(229-231)CAG>CGG		SEC8 protein isoform a							123.0	109.0	114.0					7																	132959880		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132959880A>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.230A>G	7.37:g.132959880A>G	ENSP00000253861:p.Gln77Arg					EXOC4_uc011kpo.1_5'UTR|EXOC4_uc003vri.2_Missense_Mutation_p.Q77R|EXOC4_uc003vrj.2_Missense_Mutation_p.Q77R	p.Q77R	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			2	265	+		Esophageal squamous(399;0.129)	77			Potential.		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.230A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.783037	0.70222	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.49	5.49	0.81192	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	N	0.17474	0.49	0.80722	D	1	D;B	0.59357	0.985;0.285	P;B	0.54499	0.754;0.063	T	0.40720	-0.9548	9	0.18710	T	0.47	.	15.5895	0.76517	1.0:0.0:0.0:0.0	.	77;77	Q96A65;Q8TAR2	EXOC4_HUMAN;.	R	77	.	ENSP00000253861:Q77R	Q	+	2	0	EXOC4	132610420	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.069000	0.76755	2.085000	0.62840	0.528000	0.53228	CAG		0.468	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		22	21	0	0	0	0.001882	0	22	21				
TAS2R4	50832	broad.mit.edu	37	7	141478657	141478657	+	Silent	SNP	G	G	T	rs201239135		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:141478657G>T	ENST00000247881.2	+	1	416	c.369G>T	c.(367-369)cgG>cgT	p.R123R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	123					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGCTGAAGCGGAATATCTCCC	0.483																																							uc003vwq.1		NA																	0					0						c.(367-369)CGG>CGT		taste receptor T2R4		G		0,4406		0,0,2203	172.0	161.0	165.0		369	-3.9	0.0	7		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS2R4	NM_016944.1		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		123/300	141478657	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478657G>T	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.369G>T	7.37:g.141478657G>T							p.R123R	NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	369	+	Melanoma(164;0.0171)		123			Cytoplasmic (Potential).		Q645W5|Q75MV8	Silent	SNP	ENST00000247881.2	37	c.369G>T	CCDS5868.1																																																																																				0.483	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			45	61	1	0	2.47872e-24	0.002522	4.62003e-24	45	61				
MGAM	8972	broad.mit.edu	37	7	141719006	141719006	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:141719006G>A	ENST00000549489.2	+	4	430	c.335G>A	c.(334-336)tGt>tAt	p.C112Y	MGAM_ENST00000475668.2_Missense_Mutation_p.C112Y	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	112	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGGCCACATGTGACCAACGT	0.438																																							uc003vwy.2		NA																	0				ovary(2)	2						c.(334-336)TGT>TAT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						128.0	127.0	128.0					7																	141719006		1889	4124	6013	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141719006G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.335G>A	7.37:g.141719006G>A	ENSP00000447378:p.Cys112Tyr						p.C112Y	NM_004668	NP_004659	O43451	MGA_HUMAN			4	389	+	Melanoma(164;0.0272)		112			P-type 1.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.335G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636752	0.67130	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	D;D;D	0.95412	-3.7;-3.7;-3.7	4.85	3.95	0.45737	P-type trefoil, conserved site (1);Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.127327	0.36815	N	0.002399	D	0.98143	0.9387	H	0.94503	3.545	0.49483	D	0.999792	D	0.89917	1.0	D	0.97110	1.0	D	0.98799	1.0739	10	0.87932	D	0	.	12.4172	0.55500	0.0:0.0:0.8308:0.1692	.	112	O43451	MGA_HUMAN	Y	112	ENSP00000419372:C112Y;ENSP00000447378:C112Y;ENSP00000417103:C112Y	ENSP00000373973:C112Y	C	+	2	0	MGAM	141365475	1.000000	0.71417	0.949000	0.38748	0.911000	0.54048	8.128000	0.89595	1.361000	0.45981	0.514000	0.50259	TGT		0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			100	13	0	0	0	0.00361	0	100	13				
EPHB6	2051	broad.mit.edu	37	7	142562421	142562421	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:142562421G>T	ENST00000392957.2	+	7	1650	c.863G>T	c.(862-864)gGg>gTg	p.G288V	EPHB6_ENST00000442129.1_Missense_Mutation_p.G288V|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	288	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			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)					CACTGCAACGGGGAGGGCAAG	0.667																																							uc011kst.1		NA																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(862-864)GGG>GTG		ephrin receptor EphB6 precursor							37.0	45.0	42.0					7																	142562421		2153	4230	6383	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562421G>T	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.863G>T	7.37:g.142562421G>T	ENSP00000376684:p.Gly288Val					EPHB6_uc011ksu.1_Missense_Mutation_p.G288V|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	p.G288V	NM_004445	NP_004436	O15197	EPHB6_HUMAN			7	1650	+	Melanoma(164;0.059)		288			Extracellular (Potential).|Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.863G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309318	0.60414	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.70749	-0.51;-0.51	5.04	4.16	0.48862	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.134612	0.34200	N	0.004170	T	0.75824	0.3902	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.75048	-0.3455	10	0.40728	T	0.16	.	12.6852	0.56944	0.0792:0.0:0.9208:0.0	.	288	O15197	EPHB6_HUMAN	V	288	ENSP00000376684:G288V;ENSP00000410789:G288V	ENSP00000376684:G288V	G	+	2	0	EPHB6	142272543	1.000000	0.71417	0.827000	0.32855	0.618000	0.37518	6.405000	0.73272	1.345000	0.45676	-0.258000	0.10820	GGG		0.667	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			17	36	1	0	1.5739e-10	0.004007	2.13247e-10	17	36				
TRPV6	55503	broad.mit.edu	37	7	142574921	142574921	+	Missense_Mutation	SNP	C	C	T	rs189956366		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:142574921C>T	ENST00000359396.3	-	4	706	c.461G>A	c.(460-462)cGt>cAt	p.R154H	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	154					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)			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)					GCAGGGACTACGGCGGAAGGC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19323	0.0		0.001	False		,,,				2504	0.0						uc003wbx.1		NA																	0				ovary(2)	2						c.(460-462)CGT>CAT		transient receptor potential cation channel,							73.0	64.0	67.0					7																	142574921		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142574921C>T	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.461G>A	7.37:g.142574921C>T	ENSP00000352358:p.Arg154His					TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.R25H	p.R154H	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			4	677	-	Melanoma(164;0.059)		154			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.461G>A	CCDS5874.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.27	1.589252	0.28357	.	.	ENSG00000165125	ENST00000359396	T	0.52983	0.64	3.86	-3.04	0.05412	Ankyrin repeat-containing domain (3);	0.342375	0.31660	N	0.007272	T	0.25269	0.0614	L	0.27053	0.805	0.19775	N	0.999955	B	0.10296	0.003	B	0.10450	0.005	T	0.06409	-1.0828	10	0.32370	T	0.25	-1.6458	4.7611	0.13108	0.5407:0.2423:0.0:0.217	.	154	Q9H1D0	TRPV6_HUMAN	H	154	ENSP00000352358:R154H	ENSP00000352358:R154H	R	-	2	0	TRPV6	142285043	0.002000	0.14202	0.192000	0.23308	0.712000	0.41017	-0.875000	0.04205	-0.576000	0.05974	0.655000	0.94253	CGT		0.627	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		23	22	0	0	0	0.001882	0	23	22				
FAM131B	9715	broad.mit.edu	37	7	143056081	143056081	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:143056081G>A	ENST00000409408.1	-	4	1929	c.221C>T	c.(220-222)cCc>cTc	p.P74L	FAM131B_ENST00000409222.3_Missense_Mutation_p.P74L|FAM131B_ENST00000443739.2_Missense_Mutation_p.P102L|FAM131B_ENST00000409346.1_Missense_Mutation_p.P74L|FAM131B_ENST00000409578.1_Missense_Mutation_p.P90L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	74										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CATGGCTGTGGGCTTTGTCAC	0.577																																							uc003wct.2		NA																	0					0						c.(220-222)CCC>CTC		hypothetical protein LOC9715 isoform b							84.0	64.0	71.0					7																	143056081		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143056081G>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.221C>T	7.37:g.143056081G>A	ENSP00000387017:p.Pro74Leu					FAM131B_uc010loz.2_Missense_Mutation_p.P42L|FAM131B_uc003wcu.3_Missense_Mutation_p.P74L|FAM131B_uc010lpa.2_Missense_Mutation_p.P102L|ZYX_uc011ktd.1_5'Flank	p.P74L	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			4	1927	-	Melanoma(164;0.205)		74					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.221C>T	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061748	0.93846	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77593	-0.2530	10	0.87932	D	0	-19.5956	18.4122	0.90555	0.0:0.0:1.0:0.0	.	90;74	Q86XD5-2;Q86XD5	.;F131B_HUMAN	L	102;90;74;78;74;74	ENSP00000410603:P102L;ENSP00000386568:P90L;ENSP00000386984:P74L;ENSP00000387017:P74L;ENSP00000387147:P74L	ENSP00000387147:P74L	P	-	2	0	FAM131B	142766203	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.467000	0.97671	2.335000	0.79485	0.561000	0.74099	CCC		0.577	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		14	5	0	0	0	0.00245	0	14	5				
TAS2R41	259287	broad.mit.edu	37	7	143175250	143175250	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:143175250C>A	ENST00000408916.1	+	1	285	c.285C>A	c.(283-285)gcC>gcA	p.A95A	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	95					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGAACTCAGCCACCTTCTGGT	0.542																																							uc003wdc.1		NA																	0				pancreas(1)|skin(1)	2						c.(283-285)GCC>GCA		taste receptor, type 2, member 41							96.0	96.0	96.0					7																	143175250		1997	4176	6173	SO:0001819	synonymous_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175250C>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.285C>A	7.37:g.143175250C>A						uc003wda.2_Intron	p.A95A	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	285	+	Melanoma(164;0.15)		95			Helical; Name=3; (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	c.285C>A	CCDS43663.1																																																																																				0.542	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			30	36	1	0	9.65021e-13	0.002096	1.40798e-12	30	36				
NOBOX	135935	broad.mit.edu	37	7	144096938	144096938	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:144096938G>T	ENST00000467773.1	-	6	1065	c.1066C>A	c.(1066-1068)Cgg>Agg	p.R356R	NOBOX_ENST00000223140.5_Silent_p.R239R|NOBOX_ENST00000483238.1_Silent_p.R324R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	356					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACTTGGCCCGGCGATTCTGG	0.537																																							uc011kue.1		NA																	0				ovary(1)	1						c.(1066-1068)CGG>AGG		NOBOX oogenesis homeobox							74.0	78.0	76.0					7																	144096938		1954	4148	6102	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144096938G>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1066C>A	7.37:g.144096938G>T							p.R356R	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			6	1066	-	Melanoma(164;0.14)		356			Homeobox.		A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.1066C>A																																																																																					0.537	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		8	5	1	0	0.000157383	0.00308	0.000172794	8	5				
NOBOX	135935	broad.mit.edu	37	7	144098525	144098525	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:144098525G>T	ENST00000467773.1	-	4	457	c.458C>A	c.(457-459)gCt>gAt	p.A153D	NOBOX_ENST00000223140.5_Missense_Mutation_p.A68D|NOBOX_ENST00000483238.1_Missense_Mutation_p.A153D	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	153					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCCAGCATCAGCCCCGGTGGC	0.637																																							uc011kue.1		NA																	0				ovary(1)	1						c.(457-459)GCT>GAT		NOBOX oogenesis homeobox							22.0	24.0	24.0					7																	144098525		1888	4105	5993	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098525G>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.458C>A	7.37:g.144098525G>T	ENSP00000419457:p.Ala153Asp						p.A153D	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			4	458	-	Melanoma(164;0.14)		153					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.458C>A		.	.	.	.	.	.	.	.	.	.	G	17.94	3.512619	0.64522	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.94537	-3.07;-3.45;-3.01	4.73	3.8	0.43715	.	.	.	.	.	D	0.92335	0.7568	N	0.24115	0.695	0.09310	N	1	D	0.58620	0.983	P	0.53401	0.725	D	0.85460	0.1166	9	0.66056	D	0.02	-3.254	10.8829	0.46948	0.0:0.1896:0.8104:0.0	.	153	O60393	NOBOX_HUMAN	D	153;153;68	ENSP00000419565:A153D;ENSP00000419457:A153D;ENSP00000223140:A68D	ENSP00000223140:A68D	A	-	2	0	NOBOX	143729458	0.166000	0.22962	0.006000	0.13384	0.080000	0.17528	1.748000	0.38308	2.442000	0.82660	0.561000	0.74099	GCT		0.637	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		9	10	1	0	5.50884e-06	0.001368	6.34675e-06	9	10				
CNTNAP2	26047	broad.mit.edu	37	7	146536876	146536876	+	Missense_Mutation	SNP	G	G	C	rs142185444		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:146536876G>C	ENST00000361727.3	+	3	798	c.282G>C	c.(280-282)caG>caC	p.Q94H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	94	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)			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)			ATCGGAAGCAGATCAGTGCCA	0.517										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(280-282)CAG>CAC		cell recognition molecule Caspr2 precursor							100.0	87.0	91.0					7																	146536876		2203	4300	6503	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.chr7:146536876G>C	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.282G>C	7.37:g.146536876G>C	ENSP00000354778:p.Gln94His	HNSCC(39;0.1)					p.Q94H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	798	+	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)	94			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.282G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014370	0.75161	.	.	ENSG00000174469	ENST00000361727	D	0.98264	-4.83	5.83	4.94	0.65067	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000054	D	0.97470	0.9172	L	0.38838	1.175	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	D	0.96484	0.9358	10	0.59425	D	0.04	.	10.3402	0.43873	0.1517:0.0:0.8483:0.0	.	94	Q9UHC6	CNTP2_HUMAN	H	94	ENSP00000354778:Q94H	ENSP00000354778:Q94H	Q	+	3	2	CNTNAP2	146167809	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.449000	0.44935	2.760000	0.94817	0.650000	0.86243	CAG		0.517	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			25	30	0	0	0	0.00333	0	25	30				
ZNF786	136051	broad.mit.edu	37	7	148769333	148769333	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:148769333C>A	ENST00000491431.1	-	4	595	c.531G>T	c.(529-531)tgG>tgT	p.W177C	ZNF786_ENST00000316286.9_Missense_Mutation_p.W91C|ZNF786_ENST00000451334.3_Missense_Mutation_p.W140C	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGGGACGTCCCACAAACCAG	0.577																																							uc003wfh.2		NA																	0				breast(3)|skin(1)	4						c.(529-531)TGG>TGT		zinc finger protein 786							30.0	34.0	33.0					7																	148769333		1922	4137	6059	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769333C>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.531G>T	7.37:g.148769333C>A	ENSP00000417470:p.Trp177Cys					ZNF786_uc011kuk.1_Missense_Mutation_p.W140C|ZNF786_uc003wfi.2_Missense_Mutation_p.W91C	p.W177C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	668	-	Melanoma(164;0.15)		177					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.531G>T	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324800	0.24080	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.08193	3.12;3.27;3.18	4.41	1.57	0.23409	.	0.564623	0.13457	N	0.386465	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.27679	0.185	B	0.27262	0.078	T	0.42378	-0.9455	10	0.38643	T	0.18	-9.3669	8.1583	0.31183	0.0:0.7209:0.0:0.2791	.	177	Q8N393	ZN786_HUMAN	C	91;91;177;140	ENSP00000313516:W91C;ENSP00000417470:W177C;ENSP00000404984:W140C	ENSP00000313516:W91C	W	-	3	0	ZNF786	148400266	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.040000	0.12104	0.518000	0.28383	0.561000	0.74099	TGG		0.577	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		12	1	1	0	1.08611e-07	0.000978	1.32871e-07	12	1				
ZNF862	643641	broad.mit.edu	37	7	149559330	149559330	+	Silent	SNP	C	C	T	rs371553918		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:149559330C>T	ENST00000223210.4	+	7	3326	c.3081C>T	c.(3079-3081)gcC>gcT	p.A1027A	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1027					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGCTCATGGCCGTGGTGGTCT	0.602																																							uc010lpn.2		NA																	0				skin(1)	1						c.(3079-3081)GCC>GCT		zinc finger protein 862		C		2,4220		0,2,2109	45.0	52.0	49.0		3081	-10.8	0.0	7		49	0,8464		0,0,4232	no	coding-synonymous	ZNF862	NM_001099220.1		0,2,6341	TT,TC,CC		0.0,0.0474,0.0158		1027/1170	149559330	2,12684	2111	4232	6343	SO:0001819	synonymous_variant	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149559330C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.3081C>T	7.37:g.149559330C>T						ZNF862_uc003wgm.2_RNA	p.A1027A	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			7	3273	+			1027					A0AUL8	Silent	SNP	ENST00000223210.4	37	c.3081C>T	CCDS47741.1																																																																																				0.602	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		12	23	0	0	0	0.000978	0	12	23				
GIMAP4	55303	broad.mit.edu	37	7	150269499	150269499	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:150269499C>T	ENST00000255945.2	+	3	516	c.341C>T	c.(340-342)cCt>cTt	p.P114L	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.P128L	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	114	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCCAGGGCCTCATGCTCTG	0.512																																							uc003whl.2		NA																	0				ovary(1)	1						c.(340-342)CCT>CTT		GTPase, IMAP family member 4							97.0	90.0	92.0					7																	150269499		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269499C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.341C>T	7.37:g.150269499C>T	ENSP00000255945:p.Pro114Leu					GIMAP4_uc011kuu.1_Intron|GIMAP4_uc011kuv.1_Missense_Mutation_p.P128L	p.P114L	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	423	+			114						Missense_Mutation	SNP	ENST00000255945.2	37	c.341C>T	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354554	0.61293	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	T;T;T	0.59906	0.23;0.23;0.23	4.72	4.72	0.59763	AIG1 (1);	0.123933	0.56097	D	0.000035	T	0.70219	0.3199	L	0.58583	1.82	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.986;0.998	T	0.68131	-0.5490	10	0.36615	T	0.2	.	13.0417	0.58904	0.0:1.0:0.0:0.0	.	128;114	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	L	114;128;128	ENSP00000255945:P114L;ENSP00000419545:P128L;ENSP00000418615:P128L	ENSP00000255945:P114L	P	+	2	0	GIMAP4	149900432	0.983000	0.35010	1.000000	0.80357	0.161000	0.22273	2.238000	0.43070	2.473000	0.83533	0.655000	0.94253	CCT		0.512	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		40	5	0	0	0	0.00874	0	40	5				
KCNH2	3757	broad.mit.edu	37	7	150643995	150643995	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:150643995G>T	ENST00000262186.5	-	14	3701	c.3300C>A	c.(3298-3300)ctC>ctA	p.L1100L	KCNH2_ENST00000330883.4_Silent_p.L760L|KCNH2_ENST00000392968.2_Silent_p.L1004L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1100					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TGAGGGTGGGGAGGGGGCTGA	0.642																																					GBM(137;110 1844 13671 20123 45161)	GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NA																	0				skin(3)|ovary(1)	4						c.(3298-3300)CTC>CTA		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						58.0	55.0	56.0					7																	150643995		2203	4299	6502	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150643995G>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.3300C>A	7.37:g.150643995G>T						KCNH2_uc003wib.2_Silent_p.L760L|KCNH2_uc011kux.1_Silent_p.L1004L	p.L1100L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	3313	-	all_neural(206;0.219)		1100			Cytoplasmic (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.3300C>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	8.120	0.780745	0.16120	.	.	ENSG00000055118	ENST00000350328	.	.	.	4.89	4.01	0.46588	.	.	.	.	.	T	0.70945	0.3282	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73610	-0.3928	5	0.72032	D	0.01	.	11.0485	0.47874	0.0916:0.0:0.9083:0.0	.	.	.	.	T	377	.	ENSP00000309393:P377T	P	-	1	0	KCNH2	150274928	0.984000	0.35163	1.000000	0.80357	0.704000	0.40688	0.817000	0.27281	1.194000	0.43101	0.484000	0.47621	CCC		0.642	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		53	9	1	0	1.11015e-26	0.00361	2.11627e-26	53	9				
AGAP3	116988	broad.mit.edu	37	7	150815701	150815701	+	Silent	SNP	G	G	T	rs201733562		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:150815701G>T	ENST00000463381.1	+	7	763	c.267G>T	c.(265-267)ccG>ccT	p.P89P	AGAP3_ENST00000397238.2_Silent_p.P317P|AGAP3_ENST00000473312.1_Silent_p.P317P|AGAP3_ENST00000335367.3_Silent_p.P497P|AGAP3_ENST00000479901.1_Silent_p.P317P	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	281	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCTCCATCCCGGCCGTGCACA	0.657																																							uc003wjg.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(949-951)CCG>CCT		centaurin, gamma 3 isoform a							59.0	72.0	68.0					7																	150815701		2177	4251	6428	SO:0001819	synonymous_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150815701G>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.267G>T	7.37:g.150815701G>T						AGAP3_uc003wje.1_Silent_p.P89P|AGAP3_uc003wjf.1_Silent_p.P317P|AGAP3_uc010lpy.1_Silent_p.P317P|AGAP3_uc003wjh.1_Silent_p.P497P|AGAP3_uc003wji.1_5'Flank	p.P317P	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			7	954	+			281			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000463381.1	37	c.951G>T																																																																																					0.657	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		28	38	1	0	1.99505e-19	0.002445	3.43941e-19	28	38				
KMT2C	58508	broad.mit.edu	37	7	151927028	151927028	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:151927028G>T	ENST00000262189.6	-	18	3174	c.2956C>A	c.(2956-2958)Cca>Aca	p.P986T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P986T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	986					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)										ACACAGTATGGATGGTAACAC	0.368																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2956-2958)CCA>ACA		myeloid/lymphoid or mixed-lineage leukemia 3							31.0	25.0	27.0					7																	151927028		1918	3758	5676	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151927028G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2956C>A	7.37:g.151927028G>T	ENSP00000262189:p.Pro986Thr					MLL3_uc003wkz.2_Missense_Mutation_p.P47T	p.P986T	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)	18	3175	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	986			PHD-type 4.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2956C>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.362347|3.362347	0.61403|0.61403	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.87029|.	-2.2;-2.2|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.41097|.	U|.	0.000958|.	T|T	0.58821|0.58821	0.2149|0.2149	L|L	0.35593|0.35593	1.075|1.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.55617|0.55617	-0.8113|-0.8113	10|5	0.44086|.	T|.	0.13|.	.|.	17.9348|17.9348	0.89009|0.89009	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	986;47|.	Q8NEZ4;Q8NEZ4-2|.	MLL3_HUMAN;.|.	T|Y	986|141	ENSP00000262189:P986T;ENSP00000347325:P986T|.	ENSP00000262189:P986T|.	P|S	-|-	1|2	0|0	MLL3|MLL3	151557961|151557961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.809000|9.809000	0.99208|0.99208	2.303000|2.303000	0.77524|0.77524	0.460000|0.460000	0.39030|0.39030	CCA|TCC		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	185	1	0	6.72482e-11	0.003163	9.22558e-11	6	185				
ARHGEF10	9639	broad.mit.edu	37	8	1842738	1842738	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:1842738G>T	ENST00000398564.1	+	13	1515	c.1515G>T	c.(1513-1515)tcG>tcT	p.S505S	ARHGEF10_ENST00000520359.1_Splice_Site_p.S442S|ARHGEF10_ENST00000398560.1_Splice_Site_p.S466S|ARHGEF10_ENST00000518288.1_Splice_Site_p.S505S|ARHGEF10_ENST00000262112.6_Splice_Site_p.S505S|ARHGEF10_ENST00000349830.3_Splice_Site_p.S480S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	505	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCGTGGCTTCGGTAATTAAGC	0.552																																							uc003wpr.2		NA																	0				large_intestine(1)	1						c.(1438-1440)TCG>TCT		Rho guanine nucleotide exchange factor 10							63.0	63.0	63.0					8																	1842738		2203	4300	6503	SO:0001630	splice_region_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1842738G>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1515+1G>T	8.37:g.1842738G>T						ARHGEF10_uc003wpq.1_Silent_p.S505S|ARHGEF10_uc003wps.2_Silent_p.S442S|ARHGEF10_uc003wpt.2_Silent_p.S356S|ARHGEF10_uc003wpv.2_Silent_p.S213S|ARHGEF10_uc010lre.2_Silent_p.S160S	p.S480S	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	13	1618	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	505			DH.		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.1440G>T																																																																																					0.552	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			Silent	11	1	1	0	2.80697e-09	0.000978	3.62059e-09	11	1				
MYOM2	9172	broad.mit.edu	37	8	2017574	2017574	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:2017574G>A	ENST00000262113.4	+	8	892	c.751G>A	c.(751-753)Gga>Aga	p.G251R	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	251					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			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)		AGGGTTCCGGGGAGACGAGGA	0.522																																							uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(751-753)GGA>AGA		myomesin 2							173.0	170.0	171.0					8																	2017574		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2017574G>A		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.751G>A	8.37:g.2017574G>A	ENSP00000262113:p.Gly251Arg					MYOM2_uc011kwi.1_Intron	p.G251R	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)	8	889	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	251					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.751G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314242	0.40996	.	.	ENSG00000036448	ENST00000262113	T	0.53206	0.63	5.38	5.38	0.77491	.	0.431214	0.23067	N	0.052303	T	0.49695	0.1572	L	0.56769	1.78	0.80722	D	1	B	0.16802	0.019	B	0.14023	0.01	T	0.49062	-0.8978	10	0.87932	D	0	.	19.1337	0.93417	0.0:0.0:1.0:0.0	.	251	P54296	MYOM2_HUMAN	R	251	ENSP00000262113:G251R	ENSP00000262113:G251R	G	+	1	0	MYOM2	2004981	0.993000	0.37304	0.026000	0.17262	0.270000	0.26580	4.151000	0.58105	2.520000	0.84964	0.655000	0.94253	GGA		0.522	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		35	57	0	0	0	0.004289	0	35	57				
C8orf74	203076	broad.mit.edu	37	8	10555224	10555225	+	Missense_Mutation	DNP	CC	CC	TA	rs138937646		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:10555224_10555225CC>TA	ENST00000304519.5	+	3	386_387	c.357_358CC>TA	c.(355-360)atCCgc>atTAgc	p.R120S	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	120										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACACCTTCATCCGCCACTACAA	0.594																																							uc003wtd.1		NA																	0					0						c.(355-360)ATCCGC>ATTAGC		hypothetical protein LOC203076																																				SO:0001583	missense	203076							g.chr8:10555224_10555225CC>TA	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	Exception_encountered	8.37:g.10555224_10555225delinsTA	ENSP00000307129:p.Arg120Ser					C8orf74_uc003wte.1_RNA	p.R120S	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	386_387	+			120					A2RUD6	Missense_Mutation	DNP	ENST00000304519.5	37	c.357_358CC>TA	CCDS47800.1																																																																																				0.594	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		23	18	0	0	0	0.004672	0	23	18				
PINX1	54984	broad.mit.edu	37	8	10623065	10623065	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:10623065C>A	ENST00000314787.3	-	7	952	c.833G>T	c.(832-834)gGg>gTg	p.G278V	PINX1_ENST00000519088.1_3'UTR|PINX1_ENST00000426190.2_3'UTR|SOX7_ENST00000554914.1_Intron|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	278	Telomerase inhibitory domain (TID).				mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		CACATGGTCCCCTGCATCCTG	0.597																																							uc003wth.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(832-834)GGG>GTG		PIN2-interacting protein 1							52.0	52.0	52.0					8																	10623065		1879	4114	5993	SO:0001583	missense	54984				mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding	g.chr8:10623065C>A	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.833G>T	8.37:g.10623065C>A	ENSP00000318966:p.Gly278Val					SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	p.G278V	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN		Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)	7	866	-			278			Telomerase inhibitory domain (TID).		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.833G>T	CCDS47801.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503261	0.26949	.	.	ENSG00000254093	ENST00000314787	T	0.18016	2.24	5.8	-0.909	0.10514	.	0.664821	0.16057	N	0.231694	T	0.09379	0.0231	L	0.40543	1.245	0.09310	N	1	B	0.30763	0.294	B	0.24974	0.057	T	0.19943	-1.0290	10	0.40728	T	0.16	.	1.0826	0.01646	0.1568:0.315:0.1622:0.366	.	278	Q96BK5	PINX1_HUMAN	V	278	ENSP00000318966:G278V	ENSP00000318966:G278V	G	-	2	0	PINX1	10660475	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.246000	0.18160	0.397000	0.25310	-0.345000	0.07892	GGG		0.597	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		6	8	1	0	3.59834e-05	0.001168	4.03785e-05	6	8				
SCARA3	51435	broad.mit.edu	37	8	27528514	27528514	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:27528514G>C	ENST00000301904.3	+	6	1487	c.1467G>C	c.(1465-1467)ttG>ttC	p.L489F	SCARA3_ENST00000337221.4_Intron	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	489	Collagen-like 1.				receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCGGCAGCTTGGGCCCCCTGG	0.677																																							uc003xga.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1465-1467)TTG>TTC		scavenger receptor class A, member 3 isoform 1							25.0	33.0	30.0					8																	27528514		2194	4283	6477	SO:0001583	missense	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27528514G>C	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1467G>C	8.37:g.27528514G>C	ENSP00000301904:p.Leu489Phe					SCARA3_uc003xgb.1_Intron	p.L489F	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	6	1608	+		Ovarian(32;2.61e-05)	489			Collagen-like 1.|Extracellular (Potential).		Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	c.1467G>C	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425558	0.25639	.	.	ENSG00000168077	ENST00000301904	D	0.93426	-3.22	5.72	4.85	0.62838	.	0.622040	0.17135	N	0.185663	D	0.90926	0.7148	L	0.53729	1.69	0.43953	D	0.996622	P	0.42161	0.772	B	0.41619	0.361	D	0.89561	0.3806	10	0.56958	D	0.05	-11.3373	8.6966	0.34301	0.1709:0.0:0.8291:0.0	.	489	Q6AZY7	SCAR3_HUMAN	F	489	ENSP00000301904:L489F	ENSP00000301904:L489F	L	+	3	2	SCARA3	27584433	0.186000	0.23225	1.000000	0.80357	0.020000	0.10135	0.277000	0.18734	1.419000	0.47118	0.561000	0.74099	TTG		0.677	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		7	6	0	0	0	0.001984	0	7	6				
PURG	29942	broad.mit.edu	37	8	30890256	30890256	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:30890256G>T	ENST00000475541.1	-	1	975	c.43C>A	c.(43-45)Cgc>Agc	p.R15S	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.R15S	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	15	Poly-Gly.					nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTGCCTccgcggccgcggccg	0.642																																							uc003xin.2		NA																	0					0						c.(43-45)CGC>AGC		purine-rich element binding protein G isoform A							4.0	5.0	5.0					8																	30890256		1966	4037	6003	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30890256G>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.43C>A	8.37:g.30890256G>T	ENSP00000418721:p.Arg15Ser					WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.R15S	p.R15S	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	62	-			15			Poly-Gly.		Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.43C>A	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	G	8.676	0.904072	0.17760	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.23348	1.91;1.92	3.81	3.81	0.43845	.	0.526446	0.15970	N	0.235837	T	0.09730	0.0239	N	0.08118	0	0.25184	N	0.990184	B;B	0.27013	0.058;0.166	B;B	0.18263	0.004;0.021	T	0.26326	-1.0106	10	0.06365	T	0.9	.	7.8207	0.29286	0.0:0.2246:0.6195:0.1559	.	15;15	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	S	15	ENSP00000345168:R15S;ENSP00000418721:R15S	ENSP00000345168:R15S	R	-	1	0	PURG	31009798	0.957000	0.32711	1.000000	0.80357	0.928000	0.56348	0.479000	0.22228	2.067000	0.61834	0.306000	0.20318	CGC		0.642	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		4	0	1	0	0.00024832	0.009096	0.000270549	4	0				
ADAM2	2515	broad.mit.edu	37	8	39695667	39695667	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:39695667C>A	ENST00000265708.4	-	1	141	c.38G>T	c.(37-39)gGg>gTg	p.G13V	ADAM2_ENST00000347580.4_Missense_Mutation_p.G13V|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.G13V|ADAM2_ENST00000379853.2_Missense_Mutation_p.G13V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	13					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCCGCAGCCCGCCGAGCCC	0.572																																							uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(37-39)GGG>GTG		ADAM metallopeptidase domain 2 proprotein							85.0	83.0	84.0					8																	39695667		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39695667C>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.38G>T	8.37:g.39695667C>A	ENSP00000265708:p.Gly13Val					ADAM2_uc003xnk.2_Missense_Mutation_p.G13V|ADAM2_uc011lck.1_Missense_Mutation_p.G13V|ADAM2_uc003xnl.2_Missense_Mutation_p.G13V	p.G13V	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	1	113	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	13					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.38G>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937174	0.34189	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02103	5.08;4.45;5.32;5.29	3.27	2.38	0.29361	.	.	.	.	.	T	0.06735	0.0172	M	0.68593	2.085	0.09310	N	0.999995	B;D;P;D	0.64830	0.404;0.994;0.724;0.983	B;P;B;P	0.56960	0.205;0.81;0.19;0.762	T	0.24728	-1.0152	8	.	.	.	.	6.5757	0.22564	0.0:0.8667:0.0:0.1333	.	13;13;13;13	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	V	13	ENSP00000343854:G13V;ENSP00000369182:G13V;ENSP00000265708:G13V;ENSP00000429352:G13V	.	G	-	2	0	ADAM2	39814824	0.000000	0.05858	0.003000	0.11579	0.071000	0.16799	-0.011000	0.12721	0.935000	0.37341	0.467000	0.42956	GGG		0.572	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		6	111	1	0	0.00307968	0.00308	0.00324849	6	111				
GINS4	84296	broad.mit.edu	37	8	41387778	41387778	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:41387778G>T	ENST00000276533.3	+	2	267	c.57G>T	c.(55-57)gtG>gtT	p.V19V	GINS4_ENST00000523277.2_Silent_p.V19V|GINS4_ENST00000520710.1_Silent_p.V19V|GINS4_ENST00000518671.1_Silent_p.V19V	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	19					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GTGAGGAAGTGGTCCTAACTC	0.468																																							uc003xnx.2		NA																	0				skin(1)	1						c.(55-57)GTG>GTT		GINS complex subunit 4							125.0	120.0	122.0					8																	41387778		2203	4300	6503	SO:0001819	synonymous_variant	84296				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr8:41387778G>T	BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.57G>T	8.37:g.41387778G>T						GINS4_uc003xny.2_Silent_p.V19V	p.V19V	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		2	267	+	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	19					B2R8H5|D3DSY0|Q8N648	Silent	SNP	ENST00000276533.3	37	c.57G>T	CCDS6116.1																																																																																				0.468	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377150.1	NM_032336		25	31	1	0	2.41591e-17	0.004656	3.97052e-17	25	31				
PXDNL	137902	broad.mit.edu	37	8	52232462	52232462	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:52232462C>T	ENST00000356297.4	-	23	4481	c.4381G>A	c.(4381-4383)Gag>Aag	p.E1461K	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1461					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAGCGCTTCTCTGGGGAATCA	0.473																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(4381-4383)GAG>AAG		peroxidasin homolog-like precursor							51.0	50.0	51.0					8																	52232462		1864	4088	5952	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52232462C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4381G>A	8.37:g.52232462C>T	ENSP00000348645:p.Glu1461Lys					PXDNL_uc003xqt.3_RNA	p.E1461K	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			23	4482	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1461					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.4381G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706717	0.30232	.	.	ENSG00000147485	ENST00000356297	T	0.66638	-0.22	4.37	2.55	0.30701	.	.	.	.	.	T	0.49949	0.1587	N	0.22421	0.69	0.09310	N	1	B	0.21452	0.056	B	0.19148	0.024	T	0.44190	-0.9344	9	0.87932	D	0	.	6.9747	0.24669	0.0:0.7807:0.0:0.2193	.	1461	A1KZ92	PXDNL_HUMAN	K	1461	ENSP00000348645:E1461K	ENSP00000348645:E1461K	E	-	1	0	PXDNL	52395015	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.205000	0.17356	0.289000	0.22422	0.655000	0.94253	GAG		0.473	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		12	3	0	0	0	0.004007	0	12	3				
PXDNL	137902	broad.mit.edu	37	8	52232505	52232505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:52232505G>T	ENST00000356297.4	-	23	4438	c.4338C>A	c.(4336-4338)tgC>tgA	p.C1446*	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1446	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAACTGGACAGCAGGTTCCTT	0.512																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(4336-4338)TGC>TGA		peroxidasin homolog-like precursor							54.0	54.0	54.0					8																	52232505		1896	4105	6001	SO:0001587	stop_gained	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52232505G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4338C>A	8.37:g.52232505G>T	ENSP00000348645:p.Cys1446*					PXDNL_uc003xqt.3_RNA	p.C1446*	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			23	4439	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1446			VWFC.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	ENST00000356297.4	37	c.4338C>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.71|12.71	2.018448|2.018448	0.35606|0.35606	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|.	.|.	.|.	4.51|4.51	-1.67|-1.67	0.08238|0.08238	.|.	.|.	.|.	.|.	.|.	T|.	0.13841|.	0.0335|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32587|.	-0.9901|.	4|.	.|0.02654	.|T	.|1	.|.	10.7214|10.7214	0.46042|0.46042	0.1858:0.0:0.8142:0.0|0.1858:0.0:0.8142:0.0	.|.	.|.	.|.	.|.	D|X	520|1446	.|.	.|ENSP00000348645:C1446X	A|C	-|-	2|3	0|2	PXDNL|PXDNL	52395058|52395058	0.017000|0.017000	0.18338|0.18338	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.691000|0.691000	0.25467|0.25467	-0.447000|-0.447000	0.07138|0.07138	-0.793000|-0.793000	0.03317|0.03317	GCT|TGC		0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		9	5	1	0	9.31168e-06	0.001855	1.06762e-05	9	5				
PXDNL	137902	broad.mit.edu	37	8	52287226	52287226	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:52287226C>G	ENST00000356297.4	-	18	3723	c.3623G>C	c.(3622-3624)gGt>gCt	p.G1208A	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1208A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1208					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACTCTTGTACCAGGAATCAG	0.478																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(3622-3624)GGT>GCT		peroxidasin homolog-like precursor							79.0	80.0	79.0					8																	52287226		1974	4155	6129	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52287226C>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3623G>C	8.37:g.52287226C>G	ENSP00000348645:p.Gly1208Ala					PXDNL_uc003xqt.3_RNA	p.G1208A	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			18	3724	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1208					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3623G>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762808	0.49574	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.80480	-1.38;-1.38	4.77	4.77	0.60923	.	0.000000	0.48767	D	0.000176	D	0.92756	0.7697	H	0.95850	3.73	0.42321	D	0.992253	D	0.89917	1.0	D	0.87578	0.998	D	0.95145	0.8267	10	0.87932	D	0	.	15.2578	0.73599	0.0:1.0:0.0:0.0	.	1208	A1KZ92	PXDNL_HUMAN	A	1208	ENSP00000348645:G1208A;ENSP00000444865:G1208A	ENSP00000348645:G1208A	G	-	2	0	PXDNL	52449779	1.000000	0.71417	0.059000	0.19551	0.012000	0.07955	6.832000	0.75329	2.204000	0.70986	0.655000	0.94253	GGT		0.478	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		29	10	0	0	0	0.008361	0	29	10				
PXDNL	137902	broad.mit.edu	37	8	52412259	52412259	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:52412259A>T	ENST00000356297.4	-	5	552	c.452T>A	c.(451-453)cTa>cAa	p.L151Q	PXDNL_ENST00000543296.1_Splice_Site_p.L151Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	151					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAACACTTACAGTCGCTCTAA	0.423																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(451-453)CTA>CAA		peroxidasin homolog-like precursor							175.0	170.0	172.0					8																	52412259		1885	4108	5993	SO:0001630	splice_region_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52412259A>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.452+1T>A	8.37:g.52412259A>T							p.L151Q	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			5	553	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	151			LRR 5.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.452T>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852415	0.32699	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.81908	-1.55;-1.55	4.72	4.72	0.59763	.	.	.	.	.	D	0.94381	0.8193	H	0.98996	4.395	0.21325	N	0.999722	D	0.76494	0.999	D	0.78314	0.991	D	0.87783	0.2613	8	.	.	.	.	10.601	0.45367	1.0:0.0:0.0:0.0	.	151	A1KZ92	PXDNL_HUMAN	Q	151	ENSP00000348645:L151Q;ENSP00000444865:L151Q	.	L	-	2	0	PXDNL	52574812	0.692000	0.27719	0.037000	0.18230	0.034000	0.12701	1.761000	0.38440	1.769000	0.52152	0.528000	0.53228	CTA		0.423	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Missense_Mutation	28	69	0	0	0	0.007291	0	28	69				
PENK	5179	broad.mit.edu	37	8	57354422	57354422	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:57354422C>A	ENST00000314922.3	-	2	289	c.213G>T	c.(211-213)ctG>ctT	p.L71L	PENK_ENST00000451791.2_Silent_p.L71L|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	71					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTGGTTTGGACAGCTGCAGGA	0.463																																							uc003xsz.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(211-213)CTG>CTT		proenkephalin							89.0	94.0	93.0					8																	57354422		2203	4300	6503	SO:0001819	synonymous_variant	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354422C>A		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.213G>T	8.37:g.57354422C>A						PENK_uc003xta.3_Silent_p.L71L	p.L71L	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	294	-		all_lung(136;0.229)	71					B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	ENST00000314922.3	37	c.213G>T	CCDS6168.1																																																																																				0.463	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			39	9	1	0	1.02591e-13	0.002522	1.52018e-13	39	9				
CLVS1	157807	broad.mit.edu	37	8	62289231	62289231	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:62289231C>A	ENST00000519846.1	+	4	995	c.523C>A	c.(523-525)Ctt>Att	p.L175I	CLVS1_ENST00000325897.4_Missense_Mutation_p.L175I|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	175	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGATCCGGAGCTTCAGATAAA	0.448																																							uc003xuh.2		NA																	0				skin(4)|ovary(1)	5						c.(523-525)CTT>ATT		retinaldehyde binding protein 1-like 1							101.0	98.0	99.0					8																	62289231		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62289231C>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.523C>A	8.37:g.62289231C>A	ENSP00000428402:p.Leu175Ile					CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Missense_Mutation_p.L175I	p.L175I	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			3	847	+			175			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.523C>A	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681359	0.47991	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.84442	-1.85;-1.85	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.76652	0.4017	N	0.14661	0.345	0.58432	D	0.999996	B	0.30236	0.274	B	0.30401	0.115	T	0.72401	-0.4305	10	0.26408	T	0.33	-13.3242	19.691	0.96000	0.0:1.0:0.0:0.0	.	175	Q8IUQ0	CLVS1_HUMAN	I	175	ENSP00000428402:L175I;ENSP00000325506:L175I	ENSP00000325506:L175I	L	+	1	0	CLVS1	62451785	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.089000	0.71384	2.671000	0.90904	0.585000	0.79938	CTT		0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		32	7	1	0	9.65021e-13	0.002096	1.40798e-12	32	7				
PREX2	80243	broad.mit.edu	37	8	69020436	69020436	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:69020436C>T	ENST00000288368.4	+	24	3085	c.2808C>T	c.(2806-2808)acC>acT	p.T936T		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	936					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTGCCCTACCAACTGCCATG	0.433																																							uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2806-2808)ACC>ACT		DEP domain containing 2 isoform a							113.0	98.0	103.0					8																	69020436		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69020436C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2808C>T	8.37:g.69020436C>T						PREX2_uc011lez.1_Silent_p.T871T	p.T936T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			24	2835	+			936					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.2808C>T	CCDS6201.1																																																																																				0.433	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		19	4	0	0	0	0.008871	0	19	4				
LACTB2	51110	broad.mit.edu	37	8	71581315	71581315	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:71581315C>A	ENST00000276590.4	-	1	77	c.41G>T	c.(40-42)cGa>cTa	p.R14L	LACTB2_ENST00000522447.1_Missense_Mutation_p.R14L|XKR9_ENST00000520030.1_5'Flank|XKR9_ENST00000408926.3_5'Flank	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	14						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACGCACGACTCGATTGGACAG	0.647											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc011lfd.1		NA																	0				ovary(1)	1						c.(40-42)CGA>CTA		lactamase, beta 2							45.0	38.0	40.0					8																	71581315		2202	4299	6501	SO:0001583	missense	51110						hydrolase activity|metal ion binding	g.chr8:71581315C>A	AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.41G>T	8.37:g.71581315C>A	ENSP00000276590:p.Arg14Leu		OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	LACTB2_uc003xyp.2_Missense_Mutation_p.R14L|XKR9_uc003xyq.2_5'Flank|XKR9_uc010lze.2_5'Flank|XKR9_uc010lzd.2_5'Flank	p.R14L	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)		1	133	-	Breast(64;0.0716)		14					A8K2D6|Q9Y392	Missense_Mutation	SNP	ENST00000276590.4	37	c.41G>T	CCDS6208.1	.	.	.	.	.	.	.	.	.	.	C	36	5.658206	0.96734	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	T;T	0.44482	0.92;0.92	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	L	0.47078	1.49	0.80722	D	1	P	0.48016	0.904	P	0.48063	0.565	T	0.20940	-1.0260	10	0.19147	T	0.46	-27.3844	17.7342	0.88388	0.0:1.0:0.0:0.0	.	14	Q53H82	LACB2_HUMAN	L	14	ENSP00000428801:R14L;ENSP00000276590:R14L	ENSP00000276590:R14L	R	-	2	0	LACTB2	71743869	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.146000	0.77373	2.429000	0.82318	0.650000	0.86243	CGA		0.647	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027		12	4	1	0	1.61879e-10	0.001368	2.18706e-10	12	4				
PSKH2	85481	broad.mit.edu	37	8	87081748	87081748	+	Missense_Mutation	SNP	C	C	G	rs567670091		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:87081748C>G	ENST00000276616.2	-	1	178	c.104G>C	c.(103-105)gGg>gCg	p.G35A	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	35							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CGCCTCGGGCCCAGGCCCCGC	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		10784	0.0		0.0	False		,,,				2504	0.001						uc011lfy.1		NA																	0				stomach(2)|lung(2)|ovary(1)	5						c.(103-105)GGG>GCG		protein serine kinase H2							7.0	10.0	9.0					8																	87081748		2006	4006	6012	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87081748C>G	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.104G>C	8.37:g.87081748C>G	ENSP00000276616:p.Gly35Ala						p.G35A	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		1	104	-			35					A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.104G>C	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	7.818	0.717109	0.15372	.	.	ENSG00000147613	ENST00000276616	T	0.68479	-0.33	4.89	3.99	0.46301	.	.	.	.	.	T	0.51991	0.1707	L	0.40543	1.245	0.09310	N	1	P	0.34522	0.455	B	0.34824	0.19	T	0.40887	-0.9539	9	0.07175	T	0.84	.	9.3622	0.38203	0.0:0.8996:0.0:0.1004	.	35	Q96QS6	KPSH2_HUMAN	A	35	ENSP00000276616:G35A	ENSP00000276616:G35A	G	-	2	0	PSKH2	87150864	0.000000	0.05858	0.030000	0.17652	0.042000	0.13812	0.177000	0.16801	2.515000	0.84797	0.467000	0.42956	GGG		0.716	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		13	6	0	0	0	0.00245	0	13	6				
CPNE3	8895	broad.mit.edu	37	8	87570585	87570585	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:87570585A>G	ENST00000521271.1	+	17	1723	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	CPNE3_ENST00000198765.4_Missense_Mutation_p.T521A	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	521					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CTACTTCAATACATACAAACT	0.438																																							uc003ydv.2		NA																	0				ovary(1)|skin(1)	2						c.(1561-1563)ACA>GCA		copine III							126.0	117.0	120.0					8																	87570585		2203	4300	6503	SO:0001583	missense	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87570585A>G	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1561A>G	8.37:g.87570585A>G	ENSP00000430934:p.Thr521Ala					CPNE3_uc003ydw.1_Missense_Mutation_p.T237A	p.T521A	NM_003909	NP_003900	O75131	CPNE3_HUMAN			17	1723	+			521					A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	c.1561A>G	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.286164	0.23478	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	T;T	0.05319	3.46;3.46	6.07	3.69	0.42338	.	0.148973	0.64402	N	0.000013	T	0.02888	0.0086	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36456	-0.9747	10	0.05525	T	0.97	-21.5289	10.41	0.44287	0.8686:0.0:0.1314:0.0	.	521	O75131	CPNE3_HUMAN	A	521	ENSP00000198765:T521A;ENSP00000430934:T521A	ENSP00000198765:T521A	T	+	1	0	CPNE3	87639701	0.992000	0.36948	0.984000	0.44739	0.992000	0.81027	2.964000	0.49192	0.535000	0.28714	0.533000	0.62120	ACA		0.438	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			16	54	0	0	0	0.00499	0	16	54				
RUNX1T1	862	broad.mit.edu	37	8	93023228	93023228	+	Splice_Site	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:93023228A>G	ENST00000523629.1	-	5	1013		c.e5+1		RUNX1T1_ENST00000520724.1_Splice_Site|RUNX1T1_ENST00000518844.1_Splice_Site|RUNX1T1_ENST00000521553.1_Splice_Site|RUNX1T1_ENST00000422361.2_Splice_Site|RUNX1T1_ENST00000396218.1_Splice_Site|RUNX1T1_ENST00000436581.2_Splice_Site|RUNX1T1_ENST00000360348.2_Splice_Site|RUNX1T1_ENST00000265814.3_Splice_Site	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)						fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTGTGCAATACCTTCAAAAA	0.358																																							uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.e4+1		acute myelogenous leukemia 1 translocation 1							133.0	128.0	130.0					8																	93023228		2203	4300	6503	SO:0001630	splice_region_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93023228A>G	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.558+1T>C	8.37:g.93023228A>G						RUNX1T1_uc003yfc.1_Splice_Site_p.K159_splice|RUNX1T1_uc003yfe.1_Splice_Site_p.K149_splice|RUNX1T1_uc010mao.2_Splice_Site_p.K159_splice|RUNX1T1_uc011lgi.1_Splice_Site_p.K197_splice|RUNX1T1_uc003yfh.1_Missense_Mutation_p.V150A|RUNX1T1_uc003yfb.1_Splice_Site_p.K149_splice|RUNX1T1_uc003yff.1_Splice_Site_p.K149_splice|RUNX1T1_uc003yfg.1_Missense_Mutation_p.V150A	p.K186_splice	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		4	642	-								B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Splice_Site	SNP	ENST00000523629.1	37	c.558_splice	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600169	0.87055	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RUNX1T1	93092404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.254000	0.74563	0.533000	0.62120	.		0.358	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	Intron	14	44	0	0	0	0.00245	0	14	44				
CDH17	1015	broad.mit.edu	37	8	95158220	95158220	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:95158220G>A	ENST00000027335.3	-	15	2227	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	CDH17_ENST00000441892.2_Silent_p.P487P|CDH17_ENST00000450165.2_Silent_p.P701P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	701	Cadherin 7. {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)			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)			ATGTAAAATGGGGACCCCGAA	0.448																																							uc003ygh.2		NA																	0		p.P701T(1)		ovary(5)|skin(1)	6						c.(2101-2103)CCC>CCT		cadherin 17 precursor							95.0	89.0	91.0					8																	95158220		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95158220G>A	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.2103C>T	8.37:g.95158220G>A						CDH17_uc011lgo.1_Silent_p.P487P|CDH17_uc011lgp.1_Silent_p.P701P	p.P701P	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		15	2228	-	Breast(36;4.65e-06)		701			Cadherin 7.|Extracellular (Potential).		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.2103C>T	CCDS6260.1																																																																																				0.448	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		30	21	0	0	0	0.008361	0	30	21				
MTERF3	51001	broad.mit.edu	37	8	97256192	97256192	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:97256192G>A	ENST00000287025.3	-	7	1112	c.1014C>T	c.(1012-1014)caC>caT	p.H338H	MTERFD1_ENST00000523821.1_Silent_p.H338H|MTERFD1_ENST00000522822.1_Silent_p.H217H|MTERFD1_ENST00000524341.1_Intron	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		338					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TCATCACATTGTGCACAAAAT	0.413																																							uc003yhs.1		NA																	0				ovary(1)	1						c.(1012-1014)CAC>CAT		MTERF domain containing 1 precursor							238.0	233.0	235.0					8																	97256192		2203	4300	6503	SO:0001819	synonymous_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97256192G>A																												ENST00000287025.3:c.1014C>T	8.37:g.97256192G>A						MTERFD1_uc003yhr.1_Silent_p.H217H|MTERFD1_uc010mbd.1_Silent_p.H338H	p.H338H	NM_015942	NP_057026	Q96E29	MTER1_HUMAN			7	1092	-	Breast(36;5.16e-05)		338					B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	c.1014C>T	CCDS6270.1																																																																																				0.413	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			56	28	0	0	0	0.00361	0	56	28				
GRHL2	79977	broad.mit.edu	37	8	102656453	102656453	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:102656453G>T	ENST00000251808.3	+	13	1950	c.1612G>T	c.(1612-1614)Gtg>Ttg	p.V538L	GRHL2_ENST00000395927.1_Splice_Site_p.V522L|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	538					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GACAAAGCGAGGTATCTCTCC	0.562																																							uc010mbu.2		NA																	0				ovary(2)|skin(1)	3						c.(1612-1614)GTG>TTG		transcription factor CP2-like 3							95.0	85.0	89.0					8																	102656453		2203	4300	6503	SO:0001630	splice_region_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102656453G>T	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1612+1G>T	8.37:g.102656453G>T							p.V538L	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		13	1942	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		538					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.1612G>T	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766925	0.69878	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.10573	2.86;2.86	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	M	0.69823	2.125	0.80722	D	1	P	0.41597	0.756	P	0.46585	0.521	T	0.00262	-1.1867	10	0.34782	T	0.22	-21.2063	16.9389	0.86210	0.0:0.0:1.0:0.0	.	538	Q6ISB3	GRHL2_HUMAN	L	538;522;538	ENSP00000251808:V538L;ENSP00000379260:V522L	ENSP00000251808:V538L	V	+	1	0	GRHL2	102725629	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.172000	0.77604	2.732000	0.93576	0.650000	0.86243	GTG		0.562	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	Missense_Mutation	9	3	1	0	2.17888e-05	0.006214	2.46835e-05	9	3				
UBR5	51366	broad.mit.edu	37	8	103293656	103293656	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:103293656C>T	ENST00000520539.1	-	41	6394	c.5788G>A	c.(5788-5790)Gat>Aat	p.D1930N	UBR5_ENST00000521922.1_Missense_Mutation_p.D1924N|UBR5_ENST00000220959.4_Missense_Mutation_p.D1930N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1930					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GAATGCTCATCATTATGAGAC	0.413																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(5788-5790)GAT>AAT		ubiquitin protein ligase E3 component n-recognin							136.0	120.0	125.0					8																	103293656		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103293656C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5788G>A	8.37:g.103293656C>T	ENSP00000429084:p.Asp1930Asn					UBR5_uc003yks.1_Missense_Mutation_p.D1930N	p.D1930N	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		41	5821	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1930					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5788G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097577	0.37048	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.40476	1.03;1.03;1.03	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.28274	0.84	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.25117	-1.0141	10	0.06099	T	0.92	.	18.3529	0.90344	0.0:1.0:0.0:0.0	.	1924;1930	E7EMW7;O95071	.;UBR5_HUMAN	N	1930;1930;1924	ENSP00000429084:D1930N;ENSP00000220959:D1930N;ENSP00000427819:D1924N	ENSP00000220959:D1930N	D	-	1	0	UBR5	103362832	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.772000	0.85439	2.317000	0.78254	0.563000	0.77884	GAT		0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		14	49	0	0	0	0.00245	0	14	49				
ATP6V1C1	528	broad.mit.edu	37	8	104053095	104053095	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:104053095G>T	ENST00000395862.3	+	2	190	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	ATP6V1C1_ENST00000521514.1_Intron|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.G11W|ATP6V1C1_ENST00000518857.1_Intron	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	11					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			ATCTGCTCCTGGGGAGAAAAC	0.358																																							uc003ykz.3		NA																	0					0						c.(31-33)GGG>TGG		ATPase, H+ transporting, lysosomal V1 subunit							107.0	105.0	106.0					8																	104053095		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104053095G>T	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.31G>T	8.37:g.104053095G>T	ENSP00000379203:p.Gly11Trp					ATP6V1C1_uc010mbz.2_Intron|ATP6V1C1_uc003yla.2_Missense_Mutation_p.G11W|ATP6V1C1_uc011lhl.1_Intron	p.G11W	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		2	276	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		11						Missense_Mutation	SNP	ENST00000395862.3	37	c.31G>T	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538086	0.85917	.	.	ENSG00000155097	ENST00000395862;ENST00000518738	T;T	0.44083	0.93;0.93	5.91	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73515	-0.3958	10	0.40728	T	0.16	.	15.159	0.72767	0.0694:0.0:0.9306:0.0	.	11	P21283	VATC1_HUMAN	W	11	ENSP00000379203:G11W;ENSP00000430282:G11W	ENSP00000379203:G11W	G	+	1	0	ATP6V1C1	104122271	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.048000	0.93830	2.813000	0.96785	0.655000	0.94253	GGG		0.358	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		21	11	1	0	3.8784e-16	0.001882	6.14332e-16	21	11				
TRHR	7201	broad.mit.edu	37	8	110131617	110131617	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:110131617T>A	ENST00000518632.1	+	3	1481	c.1130T>A	c.(1129-1131)cTg>cAg	p.L377Q	TRHR_ENST00000311762.2_Missense_Mutation_p.L377Q			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	377					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GACACTTACCTGTCTGCCACA	0.418																																							uc003ymz.3		NA																	0				skin(2)|lung(1)	3						c.(1129-1131)CTG>CAG		thyrotropin-releasing hormone receptor							109.0	101.0	104.0					8																	110131617		2203	4299	6502	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131617T>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1130T>A	8.37:g.110131617T>A	ENSP00000430711:p.Leu377Gln						p.L377Q	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	1146	+			377			Cytoplasmic (Potential).		Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.1130T>A	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076579	0.55753	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.67523	-0.27;-0.27	5.56	5.56	0.83823	.	0.164918	0.42172	D	0.000754	T	0.58538	0.2129	L	0.47716	1.5	0.46586	D	0.999113	B	0.06786	0.001	B	0.10450	0.005	T	0.54569	-0.8274	10	0.11794	T	0.64	-9.6768	15.1959	0.73088	0.0:0.0:0.0:1.0	.	377	P34981	TRFR_HUMAN	Q	377	ENSP00000430711:L377Q;ENSP00000309818:L377Q	ENSP00000309818:L377Q	L	+	2	0	TRHR	110200793	1.000000	0.71417	0.932000	0.37286	0.863000	0.49368	5.654000	0.67974	2.244000	0.73946	0.477000	0.44152	CTG		0.418	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			41	29	0	0	0	0.006999	0	41	29				
CSMD3	114788	broad.mit.edu	37	8	113241120	113241120	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113241120C>A	ENST00000297405.5	-	70	11073	c.10829G>T	c.(10828-10830)gGa>gTa	p.G3610V	CSMD3_ENST00000343508.3_Splice_Site_p.G3570V|CSMD3_ENST00000455883.2_Splice_Site_p.G3441V|CSMD3_ENST00000352409.3_Splice_Site_p.G3540V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3610						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATATTCAGTCCTACaaaata	0.279										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10828-10830)GGA>GTA		CUB and Sushi multiple domains 3 isoform 1							43.0	45.0	44.0					8																	113241120		2203	4298	6501	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113241120C>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.10829-1G>T	8.37:g.113241120C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2812V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3570V|CSMD3_uc011lhx.1_Missense_Mutation_p.G3441V	p.G3610V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			70	10988	-			3610			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10829G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208538	0.79240	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25414	2.1;2.1;2.13;1.8;2.12	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.45756	0.1358	L	0.39633	1.23	0.80722	D	1	D;D;D	0.76494	0.993;0.989;0.999	D;P;D	0.75484	0.926;0.881;0.986	T	0.31364	-0.9946	10	0.72032	D	0.01	.	20.0345	0.97552	0.0:1.0:0.0:0.0	.	3441;3610;3570	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3570;3610;2880;3441;3540	ENSP00000345799:G3570V;ENSP00000297405:G3610V;ENSP00000341558:G2880V;ENSP00000412263:G3441V;ENSP00000343124:G3540V	ENSP00000297405:G3610V	G	-	2	0	CSMD3	113310296	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.414000	0.80117	2.797000	0.96272	0.655000	0.94253	GGA		0.279	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	12	2	1	0	6.40141e-05	0.000978	7.11046e-05	12	2				
CSMD3	114788	broad.mit.edu	37	8	113253976	113253976	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113253976G>T	ENST00000297405.5	-	66	10685	c.10441C>A	c.(10441-10443)Ctg>Atg	p.L3481M	CSMD3_ENST00000343508.3_Missense_Mutation_p.L3441M|CSMD3_ENST00000455883.2_Missense_Mutation_p.L3312M|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3411M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3481						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGTTCCCAGTGCAGGTCTA	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10441-10443)CTG>ATG		CUB and Sushi multiple domains 3 isoform 1							125.0	134.0	131.0					8																	113253976		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113253976G>T	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.10441C>A	8.37:g.113253976G>T	ENSP00000297405:p.Leu3481Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L2683M|CSMD3_uc003ynt.2_Missense_Mutation_p.L3441M|CSMD3_uc011lhx.1_Missense_Mutation_p.L3312M	p.L3481M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			66	10600	-			3481			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10441C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	9.835	1.189377	0.21954	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25250	2.12;2.12;2.13;1.81;2.13	4.68	2.42	0.29668	.	0.641484	0.14035	N	0.345849	T	0.21103	0.0508	L	0.29908	0.895	0.26262	N	0.978568	P;P;B	0.49783	0.928;0.877;0.406	P;B;B	0.48030	0.564;0.293;0.139	T	0.05989	-1.0852	10	0.33940	T	0.23	.	6.5149	0.22242	0.4021:0.0:0.5979:0.0	.	3312;3481;3441	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	3441;3481;2751;3312;3411	ENSP00000345799:L3441M;ENSP00000297405:L3481M;ENSP00000341558:L2751M;ENSP00000412263:L3312M;ENSP00000343124:L3411M	ENSP00000297405:L3481M	L	-	1	2	CSMD3	113323152	0.998000	0.40836	0.995000	0.50966	0.074000	0.17049	1.218000	0.32467	0.990000	0.38787	0.591000	0.81541	CTG		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		41	32	1	0	6.07928e-31	0.009718	1.20738e-30	41	32				
CSMD3	114788	broad.mit.edu	37	8	113347615	113347615	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113347615G>C	ENST00000297405.5	-	45	7352	c.7108C>G	c.(7108-7110)Cta>Gta	p.L2370V	CSMD3_ENST00000343508.3_Missense_Mutation_p.L2330V|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2266V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2300V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2370	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTTGATTAGAATCTGATTT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7108-7110)CTA>GTA		CUB and Sushi multiple domains 3 isoform 1							114.0	107.0	109.0					8																	113347615		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113347615G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7108C>G	8.37:g.113347615G>C	ENSP00000297405:p.Leu2370Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L1572V|CSMD3_uc003ynt.2_Missense_Mutation_p.L2330V|CSMD3_uc011lhx.1_Missense_Mutation_p.L2266V|CSMD3_uc003ynw.1_Missense_Mutation_p.L81V	p.L2370V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			45	7267	-			2370			Extracellular (Potential).|CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7108C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656964	0.67586	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	4.78	2.98	0.34508	CUB (5);	0.000000	0.56097	D	0.000024	T	0.68439	0.3001	M	0.62088	1.915	0.44175	D	0.996988	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.997;0.996;0.999	T	0.65018	-0.6270	10	0.19590	T	0.45	.	11.8029	0.52137	0.1489:0.0:0.8511:0.0	.	2266;2370;2330	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2330;2370;1640;2266;2300	ENSP00000345799:L2330V;ENSP00000297405:L2370V;ENSP00000341558:L1640V;ENSP00000412263:L2266V;ENSP00000343124:L2300V	ENSP00000297405:L2370V	L	-	1	2	CSMD3	113416791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.346000	0.72999	1.384000	0.46424	0.585000	0.79938	CTA		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	12	0	0	0	0.00245	0	12	12				
CSMD3	114788	broad.mit.edu	37	8	113418917	113418917	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113418917G>T	ENST00000297405.5	-	35	5889	c.5645C>A	c.(5644-5646)cCt>cAt	p.P1882H	CSMD3_ENST00000343508.3_Missense_Mutation_p.P1842H|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1778H|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1812H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1882	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTGGTTCAGGCACAGAACT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5644-5646)CCT>CAT		CUB and Sushi multiple domains 3 isoform 1							104.0	97.0	99.0					8																	113418917		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418917G>T	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.5645C>A	8.37:g.113418917G>T	ENSP00000297405:p.Pro1882His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1084H|CSMD3_uc003ynt.2_Missense_Mutation_p.P1842H|CSMD3_uc011lhx.1_Missense_Mutation_p.P1778H	p.P1882H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			35	5804	-			1882			Sushi 10.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5645C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459417	0.84317	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	4.64	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.64402	D	0.000001	T	0.57095	0.2030	M	0.84773	2.715	0.58432	D	0.999994	D;D;D	0.89917	0.998;0.971;1.0	D;D;D	0.97110	0.944;0.928;1.0	T	0.65220	-0.6221	10	0.87932	D	0	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	1778;1882;1842	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	1842;1882;1152;1778;1812	ENSP00000345799:P1842H;ENSP00000297405:P1882H;ENSP00000341558:P1152H;ENSP00000412263:P1778H;ENSP00000343124:P1812H	ENSP00000297405:P1882H	P	-	2	0	CSMD3	113488093	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.601000	0.98297	2.574000	0.86865	0.655000	0.94253	CCT		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	31	1	0	5.18039e-06	0.00308	6.01703e-06	8	31				
CSMD3	114788	broad.mit.edu	37	8	113697935	113697935	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:113697935G>T	ENST00000297405.5	-	15	2426	c.2182C>A	c.(2182-2184)Cca>Aca	p.P728T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P688T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P624T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P728T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	728	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTCCCATTGGTGCAGTAAAG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2182-2184)CCA>ACA		CUB and Sushi multiple domains 3 isoform 1							70.0	77.0	75.0					8																	113697935		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697935G>T	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.2182C>A	8.37:g.113697935G>T	ENSP00000297405:p.Pro728Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.P688T|CSMD3_uc011lhx.1_Missense_Mutation_p.P624T	p.P728T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2341	-			728			Extracellular (Potential).|CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2182C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743076	0.49151	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000001	T	0.38957	0.1060	L	0.56124	1.755	0.50313	D	0.999863	P;D;D	0.71674	0.876;0.974;0.998	P;D;D	0.72075	0.669;0.951;0.976	T	0.01004	-1.1484	10	0.32370	T	0.25	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	624;728;688	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	688;728;68;624;728	ENSP00000345799:P688T;ENSP00000297405:P728T;ENSP00000341558:P68T;ENSP00000412263:P624T;ENSP00000343124:P728T	ENSP00000297405:P728T	P	-	1	0	CSMD3	113767111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.884000	0.87274	2.711000	0.92665	0.655000	0.94253	CCA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	44	1	0	4.7546e-09	0.004007	6.0996e-09	16	44				
CSMD3	114788	broad.mit.edu	37	8	114185950	114185950	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:114185950C>A	ENST00000297405.5	-	4	954		c.e4+1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000519485.1_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCATTTTACCTCTACAGAT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.e4+1		CUB and Sushi multiple domains 3 isoform 1							90.0	88.0	89.0					8																	114185950		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:114185950C>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.709+1G>T	8.37:g.114185950C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Splice_Site_p.A197_splice|CSMD3_uc011lhx.1_Splice_Site_p.A237_splice|CSMD3_uc010mcx.1_Splice_Site_p.A237_splice	p.A237_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			4	868	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.709_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088132	0.76642	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8634	0.88789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	114255126	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.722000	0.84778	2.533000	0.85409	0.650000	0.86243	.		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	35	13	1	0	2.42023e-17	0.003271	3.97052e-17	35	13				
AARD	441376	broad.mit.edu	37	8	117950633	117950633	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:117950633G>A	ENST00000378279.3	+	1	196	c.151G>A	c.(151-153)Gcc>Acc	p.A51T		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	51					lung development (GO:0030324)												GGAGGCCCTCGCCGCCAGCCC	0.716																																							uc003yof.2		NA																	0					0						c.(151-153)GCC>ACC		alanine and arginine-rich domain-containing							14.0	15.0	15.0					8																	117950633		2185	4270	6455	SO:0001583	missense	441376							g.chr8:117950633G>A	AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"""Alanine and arginine-rich domain-containing protein"""		"""chromosome 8 open reading frame 85"""	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.151G>A	8.37:g.117950633G>A	ENSP00000367528:p.Ala51Thr						p.A51T	NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN			1	170	+			51					A5PKU8	Missense_Mutation	SNP	ENST00000378279.3	37	c.151G>A	CCDS34935.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228521	0.58777	.	.	ENSG00000205002	ENST00000378279	T	0.34859	1.34	3.56	-0.867	0.10655	.	1.362860	0.05167	N	0.498901	T	0.18923	0.0454	L	0.27053	0.805	0.09310	N	1	P	0.38745	0.645	B	0.27608	0.081	T	0.13388	-1.0511	10	0.42905	T	0.14	0.0201	2.654	0.05007	0.1075:0.3417:0.3761:0.1747	.	51	Q4LEZ3	AARD_HUMAN	T	51	ENSP00000367528:A51T	ENSP00000367528:A51T	A	+	1	0	C8orf85	118019814	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.039000	0.12124	-0.318000	0.08665	0.400000	0.26472	GCC		0.716	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1	NM_001025357		13	7	0	0	0	0.00245	0	13	7				
SLC30A8	169026	broad.mit.edu	37	8	118147573	118147573	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:118147573T>A	ENST00000456015.2	+	1	7	c.7T>A	c.(7-9)Ttt>Att	p.F3I	SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000521243.1_Intron	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	3					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CGTCATGGAGTTTCTTGAAAG	0.418																																					Ovarian(162;1202 1922 6011 16223 52092)	Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NA																	0				ovary(2)|skin(2)	4						c.(7-9)TTT>ATT		solute carrier family 30 member 8							177.0	170.0	172.0					8																	118147573		2203	4299	6502	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118147573T>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.7T>A	8.37:g.118147573T>A	ENSP00000415011:p.Phe3Ile					SLC30A8_uc010mcz.2_Intron|SLC30A8_uc011lia.1_5'UTR|SLC30A8_uc003yog.2_5'UTR	p.F3I	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		1	237	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		3			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.7T>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.311117	0.40895	.	.	ENSG00000164756	ENST00000456015	T	0.64803	-0.12	5.79	3.24	0.37175	.	0.684405	0.14360	N	0.324511	T	0.41789	0.1174	N	0.24115	0.695	0.80722	D	1	B	0.32365	0.367	B	0.26864	0.074	T	0.35475	-0.9787	10	0.54805	T	0.06	-8.4519	5.0078	0.14297	0.3665:0.0:0.1565:0.477	.	3	Q8IWU4	ZNT8_HUMAN	I	3	ENSP00000415011:F3I	ENSP00000415011:F3I	F	+	1	0	SLC30A8	118216754	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	0.522000	0.22909	0.974000	0.38366	0.533000	0.62120	TTT		0.418	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		23	120	0	0	0	0.00333	0	23	120				
COLEC10	10584	broad.mit.edu	37	8	120114614	120114614	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:120114614G>T	ENST00000332843.2	+	4	361	c.320G>T	c.(319-321)gGa>gTa	p.G107V	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	107	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGTTTGCTTGGAATACCTGGA	0.299																																							uc003yoo.2		NA																	0				ovary(2)|skin(1)	3						c.(319-321)GGA>GTA		collectin sub-family member 10 precursor							114.0	116.0	115.0					8																	120114614		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120114614G>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.320G>T	8.37:g.120114614G>T	ENSP00000332723:p.Gly107Val						p.G107V	NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		4	417	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		107			Collagen-like.		Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.320G>T	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828628	0.71258	.	.	ENSG00000184374	ENST00000332843	D	0.99637	-6.29	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.99746	0.9899	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97458	1.0032	10	0.87932	D	0	-19.009	17.6494	0.88158	0.0:0.0:1.0:0.0	.	107	Q9Y6Z7	COL10_HUMAN	V	107	ENSP00000332723:G107V	ENSP00000332723:G107V	G	+	2	0	COLEC10	120183795	1.000000	0.71417	0.963000	0.40424	0.594000	0.36715	7.292000	0.78731	2.767000	0.95098	0.557000	0.71058	GGA		0.299	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			13	9	1	0	3.45872e-05	0.004007	3.89345e-05	13	9				
FER1L6	654463	broad.mit.edu	37	8	125072822	125072822	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:125072822G>T	ENST00000522917.1	+	24	3225	c.3019G>T	c.(3019-3021)Gtg>Ttg	p.V1007L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V1007L|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1007						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)			AATGAAGAAGGTGCAGCTCCT	0.562																																							uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3019-3021)GTG>TTG		fer-1-like 6							157.0	132.0	140.0					8																	125072822		2203	4300	6503	SO:0001583	missense	654463					integral to membrane		g.chr8:125072822G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3019G>T	8.37:g.125072822G>T	ENSP00000428280:p.Val1007Leu					uc003yqy.1_RNA	p.V1007L	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		24	3225	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1007			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.3019G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094226	0.76870	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81499	-1.5;-1.5	5.81	4.94	0.65067	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	T	0.81451	0.4825	L	0.45228	1.405	0.58432	D	0.99999	P	0.49447	0.924	P	0.53649	0.731	T	0.78740	-0.2086	10	0.26408	T	0.33	-12.2957	14.5179	0.67830	0.0709:0.0:0.9291:0.0	.	1007	Q2WGJ9	FR1L6_HUMAN	L	1007	ENSP00000428280:V1007L;ENSP00000381982:V1007L	ENSP00000381982:V1007L	V	+	1	0	FER1L6	125142003	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.438000	0.59961	1.461000	0.47929	-0.136000	0.14681	GTG		0.562	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		33	16	1	0	5.60225e-13	0.009535	8.19056e-13	33	16				
WISP1	8840	broad.mit.edu	37	8	134225300	134225300	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:134225300C>A	ENST00000250160.6	+	2	369	c.263C>A	c.(262-264)aCg>aAg	p.T88K	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.T88K|WISP1_ENST00000517423.1_Missense_Mutation_p.T88K	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	88	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GACAACTGCACGGAGGCTGCC	0.637																																							uc003yub.2		NA																	0				central_nervous_system(1)|kidney(1)	2						c.(262-264)ACG>AAG		WNT1 inducible signaling pathway protein 1							60.0	60.0	60.0					8																	134225300		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134225300C>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.263C>A	8.37:g.134225300C>A	ENSP00000250160:p.Thr88Lys					WISP1_uc003yuc.2_Missense_Mutation_p.T88K|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Missense_Mutation_p.T88K|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_RNA	p.T88K	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	339	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		88			IGFBP N-terminal.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.263C>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997627	0.74818	.	.	ENSG00000104415	ENST00000250160;ENST00000517423;ENST00000220856	T;T;T	0.62639	0.01;0.01;0.01	5.13	4.19	0.49359	Insulin-like growth factor-binding protein, IGFBP (3);	0.211578	0.47852	D	0.000217	T	0.74465	0.3720	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.984	D;P;P	0.71870	0.975;0.796;0.871	T	0.76790	-0.2829	10	0.62326	D	0.03	-21.5098	13.4726	0.61290	0.157:0.843:0.0:0.0	.	88;88;88	E7EMM5;O95388-2;O95388	.;.;WISP1_HUMAN	K	88	ENSP00000250160:T88K;ENSP00000427744:T88K;ENSP00000220856:T88K	ENSP00000220856:T88K	T	+	2	0	WISP1	134294482	0.992000	0.36948	1.000000	0.80357	0.927000	0.56198	3.001000	0.49488	2.394000	0.81467	0.549000	0.68633	ACG		0.637	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		29	11	1	0	3.73988e-18	0.00632	6.2654e-18	29	11				
COL22A1	169044	broad.mit.edu	37	8	139629171	139629171	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:139629171C>A	ENST00000303045.6	-	54	4302	c.3856G>T	c.(3856-3858)Gca>Tca	p.A1286S	COL22A1_ENST00000435777.1_Missense_Mutation_p.A1266S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1286	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCGGGTGCACCAGAATCG	0.577										HNSCC(7;0.00092)																													uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(3856-3858)GCA>TCA		collagen, type XXII, alpha 1							75.0	75.0	75.0					8																	139629171		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139629171C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3856G>T	8.37:g.139629171C>A	ENSP00000303153:p.Ala1286Ser	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.A566S	p.A1286S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		54	4303	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1286			Pro-rich.|Gly-rich.|Collagen-like 12.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3856G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.265701	0.01433	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94232	-3.2;-3.38	4.35	-2.54	0.06307	.	0.825040	0.10255	N	0.696678	D	0.82838	0.5124	N	0.13043	0.29	0.09310	N	1	B;B	0.16396	0.013;0.017	B;B	0.25614	0.037;0.062	T	0.69386	-0.5159	10	0.09843	T	0.71	.	6.8729	0.24131	0.0:0.2483:0.4924:0.2593	.	1266;1286	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1286;1266;979	ENSP00000303153:A1286S;ENSP00000387655:A1266S	ENSP00000303153:A1286S	A	-	1	0	COL22A1	139698353	0.018000	0.18449	0.000000	0.03702	0.113000	0.19764	0.263000	0.18478	-0.518000	0.06452	-1.049000	0.02347	GCA		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	45	1	0	0.000274275	0.004482	0.000296559	6	45				
MROH5	389690	broad.mit.edu	37	8	142458055	142458055	+	RNA	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:142458055G>T	ENST00000430863.1	-	0	2851				SNORD5_ENST00000458800.1_RNA	NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CTTGGGCTAGGGCTCGCTGGG	0.647																																							uc003ywi.2		NA																	0					0						c.(2770-2772)CCC>CAC		hypothetical protein LOC389690							27.0	30.0	29.0					8																	142458055		1999	4168	6167			389690						binding	g.chr8:142458055G>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142458055G>T						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.P924H	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		21	2852	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		924						Missense_Mutation	SNP	ENST00000430863.1	37	c.2771C>A																																																																																					0.647	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		14	7	1	0	1.3612e-06	0.003163	1.61261e-06	14	7				
CYP11B1	1584	broad.mit.edu	37	8	143956654	143956654	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:143956654G>C	ENST00000292427.4	-	7	1228	c.1196C>G	c.(1195-1197)gCt>gGt	p.A399G	CYP11B1_ENST00000377675.3_Missense_Mutation_p.A470G|CYP11B1_ENST00000517471.1_Missense_Mutation_p.A399G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	399					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	ACTCACCCCAGCTGGGATGTG	0.607									Familial Hyperaldosteronism type I																														uc003yxi.2		NA																	0				ovary(3)	3						c.(1195-1197)GCT>GGT		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						66.0	60.0	62.0					8																	143956654		2203	4299	6502	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956654G>C	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1196C>G	8.37:g.143956654G>C	ENSP00000292427:p.Ala399Gly					CYP11B1_uc010mex.2_Missense_Mutation_p.A98G|CYP11B1_uc003yxh.2_Missense_Mutation_p.A115G|CYP11B1_uc003yxj.2_Missense_Mutation_p.A399G|CYP11B1_uc010mey.2_Missense_Mutation_p.A470G	p.A399G	NM_000497	NP_000488	P15538	C11B1_HUMAN			7	1203	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		399					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1196C>G	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	19.19	3.779101	0.70107	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;T;T;T	0.70986	-0.51;-0.53;2.51;-0.53	3.78	3.78	0.43462	.	0.000000	0.50627	D	0.000106	D	0.82513	0.5053	M	0.75777	2.31	0.51233	D	0.999915	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.993;1.0;0.991;0.996	D	0.84774	0.0769	10	0.62326	D	0.03	.	13.9164	0.63899	0.0:0.0:1.0:0.0	.	470;399;399;399;115	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	G	77;399;399;470	ENSP00000430144:A77G;ENSP00000292427:A399G;ENSP00000428043:A399G;ENSP00000366903:A470G	ENSP00000292427:A399G	A	-	2	0	CYP11B1	143953656	0.996000	0.38824	0.200000	0.23457	0.693000	0.40251	5.597000	0.67577	2.055000	0.61198	0.555000	0.69702	GCT		0.607	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			6	19	0	0	0	0.001168	0	6	19				
KCNV2	169522	broad.mit.edu	37	9	2717905	2717905	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:2717905G>A	ENST00000382082.3	+	1	404	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	56					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.E56K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTACTACATCGAGGAAGACGA	0.647																																							uc003zho.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(166-168)GAG>AAG		potassium channel, subfamily V, member 2							151.0	120.0	130.0					9																	2717905		2203	4300	6503	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2717905G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.166G>A	9.37:g.2717905G>A	ENSP00000371514:p.Glu56Lys						p.E56K	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	380	+			56			Cytoplasmic (Potential).		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.166G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180250	0.78677	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.97138	-4.26	5.35	5.35	0.76521	.	1.878680	0.02548	N	0.095285	D	0.94879	0.8345	L	0.34521	1.04	0.37858	D	0.929605	P	0.44006	0.824	B	0.29663	0.105	D	0.84536	0.0636	10	0.62326	D	0.03	.	19.0627	0.93099	0.0:0.0:1.0:0.0	.	56	Q8TDN2	KCNV2_HUMAN	K	56	ENSP00000371514:E56K	ENSP00000371514:E56K	E	+	1	0	KCNV2	2707905	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.892000	0.63193	2.499000	0.84300	0.467000	0.42956	GAG		0.647	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		17	27	0	0	0	0.006122	0	17	27				
GLDC	2731	broad.mit.edu	37	9	6556225	6556225	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:6556225G>C	ENST00000321612.6	-	18	2280	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	GLDC_ENST00000460457.1_5'Flank	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	710					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	ACACGTCACTGATGTTCTCTT	0.488																																							uc003zkc.2		NA																	0				ovary(2)	2						c.(2128-2130)ATC>ATG		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						171.0	139.0	150.0					9																	6556225		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6556225G>C	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2130C>G	9.37:g.6556225G>C	ENSP00000370737:p.Ile710Met						p.I710M	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	18	2323	-		Acute lymphoblastic leukemia(23;0.161)	710					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2130C>G	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293993	0.40594	.	.	ENSG00000178445	ENST00000321612	D	0.91237	-2.81	5.36	1.32	0.21799	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aromatic amino acid beta-eliminating lyase/threonine aldolase (1);	0.105870	0.64402	D	0.000004	D	0.94208	0.8141	M	0.88031	2.925	0.46185	D	0.998916	D	0.57899	0.981	D	0.67103	0.949	D	0.92035	0.5636	10	0.87932	D	0	-21.6644	6.1214	0.20155	0.3524:0.0:0.5304:0.1172	.	710	P23378	GCSP_HUMAN	M	710	ENSP00000370737:I710M	ENSP00000370737:I710M	I	-	3	3	GLDC	6546225	0.996000	0.38824	0.556000	0.28293	0.555000	0.35460	0.386000	0.20702	0.305000	0.22832	0.655000	0.94253	ATC		0.488	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		14	26	0	0	0	0.003163	0	14	26				
PTPRD	5789	broad.mit.edu	37	9	8319965	8319965	+	Splice_Site	SNP	C	C	T	rs141403124	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:8319965C>T	ENST00000381196.4	-	42	6079	c.5536G>A	c.(5536-5538)Gcg>Acg	p.A1846T	PTPRD_ENST00000537002.1_Splice_Site_p.A1436T|PTPRD_ENST00000360074.4_Splice_Site_p.A1833T|PTPRD_ENST00000397606.3_Splice_Site_p.A1439T|PTPRD_ENST00000397611.3_Splice_Site_p.A1436T|PTPRD_ENST00000355233.5_Splice_Site_p.A1440T|PTPRD_ENST00000397617.3_Splice_Site_p.A1439T|PTPRD_ENST00000486161.1_Splice_Site_p.A1439T|PTPRD_ENST00000356435.5_Splice_Site_p.A1846T|PTPRD_ENST00000540109.1_Splice_Site_p.A1846T|PTPRD_ENST00000358503.5_Splice_Site_p.A1824T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1846	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)			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)		CCAACGCCCGCGCTGCCACAA	0.453										TSP Lung(15;0.13)			C|||	3	0.000599042	0.0008	0.0	5008	,	,		18985	0.0		0.002	False		,,,				2504	0.0						uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(5536-5538)GCG>ACG		protein tyrosine phosphatase, receptor type, D		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	72.0	69.0	70.0		4306,4315,5536,4315,4318,4288	6.0	1.0	9	dbSNP_134	70	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	58,58,58,58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1436/1503,1439/1506,1846/1913,1439/1506,1440/1507,1430/1497	8319965	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8319965C>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.5535-1G>A	9.37:g.8319965C>T		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.A1440T|PTPRD_uc003zkq.2_Missense_Mutation_p.A1439T|PTPRD_uc003zkr.2_Missense_Mutation_p.A1430T|PTPRD_uc003zks.2_Missense_Mutation_p.A1439T|PTPRD_uc003zkl.2_Missense_Mutation_p.A1837T|PTPRD_uc003zkm.2_Missense_Mutation_p.A1833T|PTPRD_uc003zkn.2_Missense_Mutation_p.A1435T|PTPRD_uc003zko.2_Missense_Mutation_p.A1436T	p.A1846T	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)	44	6247	-		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)	1846			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5536G>A	CCDS43786.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	35	5.453821	0.96223	4.54E-4	0.0	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.98	5.98	0.97165	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;1.0;0.997;1.0;0.994	D;D;D;D;P;D;D;D;P	0.91635	0.993;0.993;0.993;0.993;0.77;0.988;0.909;0.999;0.896	T	0.24440	-1.0160	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	1439;1430;1439;1440;1436;1436;1833;1846;1846	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1846;1846;1833;1824;1440;1439;1436;1436;1317;1846;1439;1439	ENSP00000370593:A1846T;ENSP00000348812:A1846T;ENSP00000353187:A1833T;ENSP00000351293:A1824T;ENSP00000347373:A1440T;ENSP00000380741:A1439T;ENSP00000380735:A1436T;ENSP00000440515:A1436T;ENSP00000438164:A1846T;ENSP00000417093:A1439T;ENSP00000380731:A1439T	.	A	-	1	0	PTPRD	8309965	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GCG		0.453	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Missense_Mutation	13	16	0	0	0	0.001855	0	13	16				
PTPRD	5789	broad.mit.edu	37	9	8507430	8507430	+	Silent	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:8507430T>C	ENST00000381196.4	-	19	2091	c.1548A>G	c.(1546-1548)ccA>ccG	p.P516P	PTPRD_ENST00000537002.1_Silent_p.P513P|PTPRD_ENST00000360074.4_Silent_p.P503P|PTPRD_ENST00000397606.3_Silent_p.P506P|PTPRD_ENST00000355233.5_Silent_p.P516P|PTPRD_ENST00000397617.3_Silent_p.P506P|PTPRD_ENST00000486161.1_Silent_p.P516P|PTPRD_ENST00000356435.5_Silent_p.P516P|PTPRD_ENST00000540109.1_Silent_p.P516P|PTPRD_ENST00000358503.5_Silent_p.P503P|PTPRD_ENST00000397611.3_Silent_p.P513P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	516	Fibronectin type-III 2. {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)			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)		GTGGCTGCCCTGGTACTAAAA	0.433										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1546-1548)CCA>CCG		protein tyrosine phosphatase, receptor type, D							142.0	135.0	138.0					9																	8507430		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.chr9:8507430T>C	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.1548A>G	9.37:g.8507430T>C		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.P516P|PTPRD_uc003zkq.2_Silent_p.P516P|PTPRD_uc003zkr.2_Silent_p.P510P|PTPRD_uc003zks.2_Silent_p.P506P|PTPRD_uc003zkl.2_Silent_p.P516P|PTPRD_uc003zkm.2_Silent_p.P503P|PTPRD_uc003zkn.2_Silent_p.P516P|PTPRD_uc003zko.2_Silent_p.P513P	p.P516P	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)	21	2259	-		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)	516			Fibronectin type-III 3.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.1548A>G	CCDS43786.1																																																																																				0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			29	33	0	0	0	0.008361	0	29	33				
PTPRD	5789	broad.mit.edu	37	9	8528597	8528597	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:8528597G>T	ENST00000381196.4	-	12	1078	c.535C>A	c.(535-537)Cga>Aga	p.R179R	PTPRD_ENST00000537002.1_Silent_p.R179R|PTPRD_ENST00000360074.4_Silent_p.R179R|PTPRD_ENST00000397606.3_Silent_p.R179R|PTPRD_ENST00000355233.5_Silent_p.R179R|PTPRD_ENST00000463477.1_Silent_p.R179R|PTPRD_ENST00000397617.3_Silent_p.R179R|PTPRD_ENST00000486161.1_Silent_p.R179R|PTPRD_ENST00000356435.5_Silent_p.R179R|PTPRD_ENST00000540109.1_Silent_p.R179R|PTPRD_ENST00000358503.5_Silent_p.R179R|PTPRD_ENST00000397611.3_Silent_p.R179R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	179	Ig-like C2-type 2.				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.R179*(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)		CTACCTGATCGTAACTGCTTA	0.328										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - Nonsense(4)		endometrium(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(535-537)CGA>AGA		protein tyrosine phosphatase, receptor type, D							140.0	126.0	131.0					9																	8528597		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.chr9:8528597G>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.535C>A	9.37:g.8528597G>T		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.R179R|PTPRD_uc003zkq.2_Silent_p.R179R|PTPRD_uc003zkr.2_Silent_p.R179R|PTPRD_uc003zks.2_Silent_p.R179R|PTPRD_uc003zkl.2_Silent_p.R179R|PTPRD_uc003zkm.2_Silent_p.R179R|PTPRD_uc003zkn.2_Silent_p.R179R|PTPRD_uc003zko.2_Silent_p.R179R|PTPRD_uc003zkt.1_Silent_p.R179R	p.R179R	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)	14	1246	-		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)	179			Extracellular (Potential).|Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.535C>A	CCDS43786.1																																																																																				0.328	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			20	38	1	0	1.96292e-10	0.010504	2.63698e-10	20	38				
PLIN2	123	broad.mit.edu	37	9	19126234	19126235	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:19126234_19126235CT>AA	ENST00000276914.2	-	3	282_283	c.103_104AG>TT	c.(103-105)AGt>TTt	p.S35F	PLIN2_ENST00000380465.3_Missense_Mutation_p.S35F|PLIN2_ENST00000411567.1_Missense_Mutation_p.S35F|PLIN2_ENST00000380464.3_Missense_Mutation_p.S35F	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	35					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GTCCTTTGTACTGAGATAGGCT	0.54																																							uc003zno.2		NA																	0				ovary(2)	2						c.(103-105)AGT>TTT		adipose differentiation-related protein																																				SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19126234_19126235CT>AA	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.103_104delinsAA	9.37:g.19126234_19126235delinsAA	ENSP00000276914:p.Ser35Phe					PLIN2_uc011lna.1_Missense_Mutation_p.S7F|PLIN2_uc011lnb.1_Missense_Mutation_p.S35F	p.S35F	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			3	282_283	-			35					Q9BSC3	Missense_Mutation	DNP	ENST00000276914.2	37	c.103_104AG>TT	CCDS6490.1																																																																																				0.540	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		18	40	0	0	0	0.004672	0	18	40				
LRRC19	64922	broad.mit.edu	37	9	26998035	26998035	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:26998035G>T	ENST00000380055.5	-	3	396	c.286C>A	c.(286-288)Ctc>Atc	p.L96I	IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|LRRC19_ENST00000482770.1_5'Flank	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	96						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AGACTGGAGAGGTTACCAAAA	0.328																																							uc003zqh.2		NA																	0					0						c.(286-288)CTC>ATC		leucine rich repeat containing 19 precursor							94.0	105.0	101.0					9																	26998035		2203	4300	6503	SO:0001583	missense	64922					integral to membrane		g.chr9:26998035G>T	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.286C>A	9.37:g.26998035G>T	ENSP00000369395:p.Leu96Ile					IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	p.L96I	NM_022901	NP_075052	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	3	397	-		all_neural(11;1.81e-09)	96			Extracellular (Potential).		A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	c.286C>A	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725119	0.48833	.	.	ENSG00000184434	ENST00000380055	T	0.62105	0.05	5.62	5.62	0.85841	.	0.304581	0.28301	N	0.015845	D	0.82430	0.5035	M	0.90483	3.12	0.30062	N	0.810828	D	0.89917	1.0	D	0.80764	0.994	T	0.82182	-0.0584	10	0.72032	D	0.01	-2.2689	15.2132	0.73241	0.0696:0.0:0.9304:0.0	.	96	Q9H756	LRC19_HUMAN	I	96	ENSP00000369395:L96I	ENSP00000369395:L96I	L	-	1	0	LRRC19	26988035	1.000000	0.71417	0.771000	0.31576	0.348000	0.29142	4.091000	0.57700	2.814000	0.96858	0.585000	0.79938	CTC		0.328	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		29	55	1	0	1.38854e-25	0.008361	2.61545e-25	29	55				
FAM219A	203259	broad.mit.edu	37	9	34402709	34402709	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:34402709C>A	ENST00000445726.1	-	3	563	c.257G>T	c.(256-258)cGa>cTa	p.R86L	FAM219A_ENST00000379081.1_Missense_Mutation_p.R57L|FAM219A_ENST00000379084.1_Missense_Mutation_p.R68L|FAM219A_ENST00000379089.1_Missense_Mutation_p.R85L|FAM219A_ENST00000379080.1_Missense_Mutation_p.R74L|FAM219A_ENST00000379087.1_Missense_Mutation_p.R68L|FAM219A_ENST00000379078.1_Missense_Mutation_p.R85L|FAM219A_ENST00000297620.4_Missense_Mutation_p.R69L	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	86								p.R69Q(1)									CTACCTTGTTCGGGCCATGAC	0.622																																							uc011lok.1		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(256-258)CGA>CTA		hypothetical protein LOC203259							180.0	126.0	144.0					9																	34402709		2203	4300	6503	SO:0001583	missense	203259							g.chr9:34402709C>A	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.257G>T	9.37:g.34402709C>A	ENSP00000392452:p.Arg86Leu					C9orf25_uc003zuj.2_Missense_Mutation_p.R69L|C9orf25_uc003zuk.2_Missense_Mutation_p.R58L|C9orf25_uc011lol.1_Missense_Mutation_p.R75L|C9orf25_uc003zul.2_Missense_Mutation_p.R58L	p.R86L	NM_147202	NP_671735	Q8IW50	CI025_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.0858)	3	564	-	all_epithelial(49;0.244)		86					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	c.257G>T	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118881	0.94385	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409;ENST00000379078	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;1.0;0.998;0.996	D;D;D;D;D	0.87578	0.969;0.994;0.998;0.994;0.988	T	0.81771	-0.0780	9	0.66056	D	0.02	-6.0991	17.6693	0.88212	0.0:1.0:0.0:0.0	.	75;86;58;58;69	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	L	85;68;68;57;74;86;69;85;85	.	ENSP00000297620:R69L	R	-	2	0	C9orf25	34392709	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.226000	0.78060	2.415000	0.81967	0.561000	0.74099	CGA		0.622	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		21	37	1	0	2.70639e-06	0.002299	3.17717e-06	21	37				
SPATA31A7	26165	broad.mit.edu	37	9	65508168	65508168	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:65508168G>T	ENST00000355045.2	-	2	243	c.215C>A	c.(214-216)cCc>cAc	p.P72H	SPATA31A7_ENST00000491812.2_5'Flank	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	72					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTGCCTCTGGGCCTCCGCCT	0.522																																							uc004adx.3		NA																	0					0						c.(214-216)CCC>CAC		hypothetical protein LOC26165							16.0	18.0	17.0					9																	65508168		752	2359	3111	SO:0001583	missense	727905					integral to membrane		g.chr9:65508168G>T		CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.215C>A	9.37:g.65508168G>T	ENSP00000347153:p.Pro72His						p.P72H	NM_015667	NP_056482	Q5VU36	F75A5_HUMAN			2	244	-			72					Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	ENST00000355045.2	37	c.215C>A	CCDS43825.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334252	0.24253	.	.	ENSG00000234734	ENST00000355045	T	0.04049	3.72	1.58	-1.95	0.07548	.	1.674320	0.03658	N	0.242122	T	0.13543	0.0328	L	0.53249	1.67	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.19647	-1.0299	10	0.56958	D	0.05	.	2.743	0.05259	0.0:0.3532:0.2625:0.3843	.	72	Q8IWB4	F75A7_HUMAN	H	72	ENSP00000347153:P72H	ENSP00000347153:P72H	P	-	2	0	FAM75A7	65247988	0.001000	0.12720	0.001000	0.08648	0.288000	0.27193	-0.461000	0.06712	-0.599000	0.05798	0.162000	0.16502	CCC		0.522	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036952.1	NM_015667		64	108	1	0	1.46168e-27	0.00361	2.83188e-27	64	108				
PGM5	5239	broad.mit.edu	37	9	71144537	71144537	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:71144537A>G	ENST00000396396.1	+	11	1898	c.1669A>G	c.(1669-1671)Aga>Gga	p.R557G		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	557					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATTCATGAGAGAACTGGCCG	0.502																																							uc004agr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1669-1671)AGA>GGA		phosphoglucomutase 5							57.0	49.0	52.0					9																	71144537		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71144537A>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1669A>G	9.37:g.71144537A>G	ENSP00000379678:p.Arg557Gly						p.R557G	NM_021965	NP_068800	Q15124	PGM5_HUMAN			11	1898	+			557					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1669A>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963129	0.34659	.	.	ENSG00000154330	ENST00000396396	T	0.44083	0.93	5.66	4.45	0.53987	.	0.207171	0.51477	D	0.000096	T	0.47322	0.1439	M	0.85373	2.75	0.58432	D	0.999996	B	0.13594	0.008	B	0.14578	0.011	T	0.51718	-0.8670	10	0.48119	T	0.1	.	11.5784	0.50877	0.8509:0.1491:0.0:0.0	.	557	Q15124	PGM5_HUMAN	G	557	ENSP00000379678:R557G	ENSP00000379678:R557G	R	+	1	2	PGM5	70334357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.571000	0.36450	2.160000	0.67779	0.533000	0.62120	AGA		0.502	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		6	5	0	0	0	0.001168	0	6	5				
GDA	9615	broad.mit.edu	37	9	74838109	74838109	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:74838109G>T	ENST00000358399.3	+	7	773	c.680G>T	c.(679-681)gGc>gTc	p.G227V	GDA_ENST00000545168.1_Missense_Mutation_p.G153V|GDA_ENST00000238018.4_Missense_Mutation_p.G227V|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Intron|GDA_ENST00000376986.1_Intron	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	227					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGTGAACTGGGCAACATTGCT	0.423																																							uc004aiq.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(679-681)GGC>GTC		guanine deaminase							185.0	167.0	173.0					9																	74838109		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74838109G>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.680G>T	9.37:g.74838109G>T	ENSP00000351170:p.Gly227Val					GDA_uc011lse.1_Missense_Mutation_p.G153V|GDA_uc011lsf.1_Missense_Mutation_p.G153V|GDA_uc004air.2_Missense_Mutation_p.G227V|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Missense_Mutation_p.G153V	p.G227V	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	7	863	+		Myeloproliferative disorder(762;0.0122)	227					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.680G>T	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745716	0.69418	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000358399;ENST00000414671	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.58	5.58	0.84498	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.95826	0.8854	10	0.87932	D	0	-16.3147	16.4881	0.84190	0.0:0.0:1.0:0.0	.	227;227	Q9Y2T3-3;Q9Y2T3	.;GUAD_HUMAN	V	153;227;227;93	ENSP00000437972:G153V;ENSP00000238018:G227V;ENSP00000351170:G227V;ENSP00000403897:G93V	ENSP00000238018:G227V	G	+	2	0	GDA	74027929	1.000000	0.71417	0.740000	0.30986	0.659000	0.38960	6.689000	0.74562	2.626000	0.88956	0.655000	0.94253	GGC		0.423	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			35	4	1	0	2.75727e-19	0.004878	4.71918e-19	35	4				
PRUNE2	158471	broad.mit.edu	37	9	79325653	79325653	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:79325653C>A	ENST00000376718.3	-	8	1660	c.1537G>T	c.(1537-1539)Gca>Tca	p.A513S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A154S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	513					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGTAGTCTGCAGAATGAGAA	0.542																																							uc010mpk.2		NA																	0					0						c.(1537-1539)GCA>TCA		prune homolog 2							40.0	38.0	38.0					9																	79325653		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325653C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1537G>T	9.37:g.79325653C>A	ENSP00000365908:p.Ala513Ser						p.A513S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	1661	-			513					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.1537G>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063224	0.76187	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.55760	0.52;0.5	5.71	5.71	0.89125	.	0.131128	0.34802	N	0.003668	T	0.63117	0.2484	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.65187	-0.6229	10	0.87932	D	0	-12.4476	19.8557	0.96758	0.0:1.0:0.0:0.0	.	513	Q8WUY3	PRUN2_HUMAN	S	513;154;512	ENSP00000365908:A513S;ENSP00000397425:A154S	ENSP00000365908:A513S	A	-	1	0	PRUNE2	78515473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.076000	0.50081	2.707000	0.92482	0.655000	0.94253	GCA		0.542	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		6	2	1	0	3.59834e-05	0.001168	4.03785e-05	6	2				
SPATA31D1	389763	broad.mit.edu	37	9	84603853	84603853	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:84603853G>T	ENST00000344803.2	+	1	167	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	40					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGTTTATACTGTACTTGTTCT	0.458																																							uc004amn.2		NA																	0					0						c.(118-120)CTG>CTT		hypothetical protein LOC389763							285.0	241.0	255.0					9																	84603853		1879	4100	5979	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84603853G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.120G>T	9.37:g.84603853G>T							p.L40L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			1	167	+			40			Helical; (Potential).			Silent	SNP	ENST00000344803.2	37	c.120G>T	CCDS47986.1																																																																																				0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		25	7	1	0	5.35356e-11	0.00278	7.37993e-11	25	7				
SPATA31D1	389763	broad.mit.edu	37	9	84607299	84607299	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:84607299C>A	ENST00000344803.2	+	4	1961	c.1914C>A	c.(1912-1914)ggC>ggA	p.G638G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	638					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G638G(2)									GTTTGTGGGGCTTACCCTCTG	0.478																																							uc004amn.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1912-1914)GGC>GGA		hypothetical protein LOC389763							101.0	97.0	99.0					9																	84607299		1860	4112	5972	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84607299C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1914C>A	9.37:g.84607299C>A							p.G638G	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1961	+			638						Silent	SNP	ENST00000344803.2	37	c.1914C>A	CCDS47986.1																																																																																				0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		23	10	1	0	1.10513e-12	0.002299	1.60419e-12	23	10				
NAA35	60560	broad.mit.edu	37	9	88635851	88635851	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:88635851G>T	ENST00000361671.5	+	22	2218	c.2085G>T	c.(2083-2085)aaG>aaT	p.K695N		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	695					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TGGTTATGAAGTTATTGGCAG	0.313																																							uc004aoi.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2083-2085)AAG>AAT		corneal wound healing-related protein							80.0	89.0	86.0					9																	88635851		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88635851G>T	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.2085G>T	9.37:g.88635851G>T	ENSP00000354972:p.Lys695Asn					NAA35_uc004aoj.3_Missense_Mutation_p.K695N	p.K695N	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			22	2222	+			695					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.2085G>T	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	9.722	1.159869	0.21454	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.55	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.33339	1.005	0.80722	D	1	B	0.30021	0.265	B	0.24541	0.054	T	0.06356	-1.0831	9	0.21014	T	0.42	-12.8138	8.8949	0.35458	0.2829:0.0:0.7171:0.0	.	695	Q5VZE5	NAA35_HUMAN	N	695	.	ENSP00000354972:K695N	K	+	3	2	NAA35	87825671	1.000000	0.71417	0.986000	0.45419	0.999000	0.98932	3.153000	0.50685	0.318000	0.23185	0.650000	0.86243	AAG		0.313	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		11	8	1	0	2.27111e-07	0.001368	2.74772e-07	11	8				
BICD2	23299	broad.mit.edu	37	9	95482728	95482728	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:95482728C>A	ENST00000375512.3	-	4	983	c.916G>T	c.(916-918)Ggc>Tgc	p.G306C	BICD2_ENST00000356884.6_Missense_Mutation_p.G306C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	306					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAGGCCGCCGTGCTCAAAG	0.637																																							uc004aso.1		NA																	0				skin(1)	1						c.(916-918)GGC>TGC		bicaudal D homolog 2 isoform 2							87.0	89.0	89.0					9																	95482728		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95482728C>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.916G>T	9.37:g.95482728C>A	ENSP00000364662:p.Gly306Cys					BICD2_uc004asp.1_Missense_Mutation_p.G306C	p.G306C	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			4	973	-			306					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.916G>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715465	0.48622	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.46063	0.88;0.88	4.79	0.152	0.14893	.	0.410508	0.29059	N	0.013273	T	0.44074	0.1276	L	0.52011	1.625	0.09310	N	1	P;P	0.51933	0.937;0.949	P;P	0.54815	0.648;0.761	T	0.28073	-1.0055	10	0.56958	D	0.05	-15.6065	6.8493	0.24006	0.0:0.3935:0.0:0.6065	.	306;306	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	306	ENSP00000349351:G306C;ENSP00000364662:G306C	ENSP00000349351:G306C	G	-	1	0	BICD2	94522549	0.001000	0.12720	0.001000	0.08648	0.700000	0.40528	0.399000	0.20916	0.178000	0.19917	0.650000	0.86243	GGC		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		22	4	1	0	7.41877e-09	0.001882	9.4081e-09	22	4				
WNK2	65268	broad.mit.edu	37	9	96024316	96024316	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:96024316C>G	ENST00000297954.4	+	12	3287	c.3287C>G	c.(3286-3288)cCa>cGa	p.P1096R	WNK2_ENST00000427277.2_Missense_Mutation_p.P708R|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P708R|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P1096R	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1096					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)			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						CCAGCAAACCCACCGCTGCCT	0.672																																							uc004ati.1		NA																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(3286-3288)CCA>CGA		WNK lysine deficient protein kinase 2							24.0	21.0	22.0					9																	96024316		2199	4292	6491	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96024316C>G	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.3287C>G	9.37:g.96024316C>G	ENSP00000297954:p.Pro1096Arg					WNK2_uc011lud.1_Missense_Mutation_p.P1096R|WNK2_uc004atj.2_Missense_Mutation_p.P1096R|WNK2_uc004atk.2_Missense_Mutation_p.P733R	p.P1096R	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			12	3287	+			1096					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.3287C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.399|8.399	0.841568|0.841568	0.16963|0.16963	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|T;T;T;T	.|0.70399	.|-0.46;-0.48;0.16;0.17	5.3|5.3	1.1|1.1	0.20463|0.20463	.|.	.|0.871529	.|0.10110	.|N	.|0.714792	T|T	0.69333|0.69333	0.3099|0.3099	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999998|0.999998	.|D;P;B;D	.|0.71674	.|0.998;0.567;0.384;0.996	.|P;B;B;P	.|0.59703	.|0.862;0.177;0.33;0.731	T|T	0.57207|0.57207	-0.7851|-0.7851	5|10	.|0.59425	.|D	.|0.04	.|.	6.4705|6.4705	0.22005|0.22005	0.1227:0.687:0.0:0.1903|0.1227:0.687:0.0:0.1903	.|.	.|1096;699;1096;1096	.|Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	D|R	1092|1096;1096;708;708	.|ENSP00000297954:P1096R;ENSP00000378860:P1096R;ENSP00000297876:P708R;ENSP00000411181:P708R	.|ENSP00000297954:P1096R	H|P	+|+	1|2	0|0	WNK2|WNK2	95064137|95064137	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.212000|0.212000	0.17497|0.17497	-0.077000|-0.077000	0.12752|0.12752	-0.444000|-0.444000	0.05651|0.05651	CAC|CCA		0.672	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		5	3	0	0	0	0.000602	0	5	3				
PHF2	5253	broad.mit.edu	37	9	96429477	96429477	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:96429477T>G	ENST00000359246.4	+	17	2670	c.2303T>G	c.(2302-2304)cTg>cGg	p.L768R	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	768					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TTGGACCTGCTGCAGGCCAGT	0.667																																							uc004aub.2		NA																	0				ovary(1)	1						c.(2302-2304)CTG>CGG		PHD finger protein 2							40.0	38.0	39.0					9																	96429477		2201	4300	6501	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96429477T>G	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2303T>G	9.37:g.96429477T>G	ENSP00000352185:p.Leu768Arg					PHF2_uc011lug.1_Missense_Mutation_p.L651R|PHF2_uc004auc.2_Missense_Mutation_p.L188R	p.L768R	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	17	2450	+		Myeloproliferative disorder(762;0.0255)	768					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.2303T>G	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.030290	0.75504	.	.	ENSG00000197724	ENST00000359246	T	0.28666	1.6	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000003	T	0.51958	0.1705	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.55547	-0.8124	10	0.87932	D	0	-13.2883	14.6953	0.69118	0.0:0.0:0.0:1.0	.	187;768	Q8N359;O75151	.;PHF2_HUMAN	R	768	ENSP00000352185:L768R	ENSP00000352185:L768R	L	+	2	0	PHF2	95469298	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	7.399000	0.79935	1.870000	0.54199	0.248000	0.18094	CTG		0.667	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		10	2	0	0	0	0.006214	0	10	2				
TEX10	54881	broad.mit.edu	37	9	103111484	103111484	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:103111484A>T	ENST00000374902.4	-	2	338	c.162T>A	c.(160-162)aaT>aaA	p.N54K	TEX10_ENST00000535814.1_Missense_Mutation_p.N57K|TEX10_ENST00000537512.1_Intron	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	54						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TAAGTTTTCTATTGTTTGTTG	0.303																																							uc004bas.2		NA																	0				ovary(1)|skin(1)	2						c.(160-162)AAT>AAA		testis expressed 10 isoform 1							135.0	123.0	127.0					9																	103111484		2203	4299	6502	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103111484A>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.162T>A	9.37:g.103111484A>T	ENSP00000364037:p.Asn54Lys					TEX10_uc011lvf.1_5'Flank|TEX10_uc011lvg.1_Missense_Mutation_p.N57K|TEX10_uc011lvh.1_Intron|TEX10_uc004bat.2_Missense_Mutation_p.N54K	p.N54K	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	2	377	-		Acute lymphoblastic leukemia(62;0.0527)	54					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.162T>A	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.393671	0.25205	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	T;T	0.64991	-0.13;-0.13	5.56	-4.69	0.03299	Armadillo-like helical (1);	0.179247	0.64402	D	0.000012	T	0.34890	0.0913	N	0.21097	0.63	0.80722	D	1	P;B;P	0.48764	0.915;0.017;0.846	B;B;B	0.39904	0.313;0.008;0.218	T	0.55075	-0.8197	10	0.06625	T	0.88	-15.136	11.5304	0.50607	0.3527:0.0:0.5519:0.0954	.	57;54;54	B4DYV2;B4DQR0;Q9NXF1	.;.;TEX10_HUMAN	K	57;54;54	ENSP00000444555:N57K;ENSP00000364037:N54K	ENSP00000364037:N54K	N	-	3	2	TEX10	102151305	0.944000	0.32072	0.907000	0.35723	0.147000	0.21601	0.057000	0.14279	-0.772000	0.04602	0.533000	0.62120	AAT		0.303	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		11	16	0	0	0	0.001855	0	11	16				
BAAT	570	broad.mit.edu	37	9	104133567	104133567	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:104133567G>A	ENST00000395051.3	-	1	190	c.120C>T	c.(118-120)aaC>aaT	p.N40N	BAAT_ENST00000259407.2_Silent_p.N40N			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	40					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ACATGTCTCCGTTTTCATCTT	0.483																																							uc010mtd.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(118-120)AAC>AAT		bile acid Coenzyme A: amino acid	Glycine(DB00145)						106.0	97.0	100.0					9																	104133567		2203	4300	6503	SO:0001819	synonymous_variant	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104133567G>A	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.120C>T	9.37:g.104133567G>A						BAAT_uc004bbd.3_Silent_p.N40N	p.N40N	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN			2	229	-		Acute lymphoblastic leukemia(62;0.0559)	40					Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	37	c.120C>T	CCDS6752.1																																																																																				0.483	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			10	41	0	0	0	0.008291	0	10	41				
RNF20	56254	broad.mit.edu	37	9	104317070	104317070	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:104317070G>A	ENST00000389120.3	+	15	2204	c.2114G>A	c.(2113-2115)cGg>cAg	p.R705Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	705					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGGAAGATCCGGGCAGTGGAG	0.408																																							uc004bbn.2		NA																	0				ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(2113-2115)CGG>CAG		ring finger protein 20							97.0	99.0	99.0					9																	104317070		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104317070G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2114G>A	9.37:g.104317070G>A	ENSP00000373772:p.Arg705Gln						p.R705Q	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	15	2204	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	705			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2114G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793537	0.90453	.	.	ENSG00000155827	ENST00000389120	T	0.32515	1.45	5.69	4.6	0.57074	.	0.051692	0.85682	D	0.000000	T	0.45115	0.1326	M	0.72353	2.195	0.54753	D	0.999982	D	0.60575	0.988	P	0.55749	0.783	T	0.23833	-1.0177	10	0.15952	T	0.53	-17.2043	15.258	0.73599	0.0798:0.0:0.9202:0.0	.	705	Q5VTR2	BRE1A_HUMAN	Q	705	ENSP00000373772:R705Q	ENSP00000373772:R705Q	R	+	2	0	RNF20	103356891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.485000	0.81204	2.696000	0.92011	0.655000	0.94253	CGG		0.408	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		8	13	0	0	0	0.006214	0	8	13				
GRIN3A	116443	broad.mit.edu	37	9	104449437	104449437	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:104449437C>A	ENST00000361820.3	-	2	1345	c.745G>T	c.(745-747)Gat>Tat	p.D249Y		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	249					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)			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)	ACATCAGCATCAGAACTTAAT	0.388																																							uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(745-747)GAT>TAT		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)						83.0	83.0	83.0					9																	104449437		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.chr9:104449437C>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.745G>T	9.37:g.104449437C>A	ENSP00000355155:p.Asp249Tyr					GRIN3A_uc004bbq.1_Missense_Mutation_p.D249Y	p.D249Y	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			2	1346	-		Acute lymphoblastic leukemia(62;0.0568)	249			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.745G>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086451	0.36855	.	.	ENSG00000198785	ENST00000361820	D	0.85773	-2.03	5.69	5.69	0.88448	.	0.180764	0.39475	N	0.001351	T	0.80071	0.4556	L	0.44542	1.39	0.44762	D	0.997768	P	0.40534	0.72	B	0.37144	0.242	T	0.82127	-0.0611	10	0.66056	D	0.02	.	13.0696	0.59053	0.0:0.9268:0.0:0.0732	.	249	Q8TCU5	NMD3A_HUMAN	Y	249	ENSP00000355155:D249Y	ENSP00000355155:D249Y	D	-	1	0	GRIN3A	103489258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.301000	0.51842	2.690000	0.91761	0.455000	0.32223	GAT		0.388	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			26	31	1	0	4.26978e-12	0.00333	6.07409e-12	26	31				
OR13C8	138802	broad.mit.edu	37	9	107331522	107331522	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:107331522C>G	ENST00000335040.1	+	1	74	c.74C>G	c.(73-75)aCa>aGa	p.T25R		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAGCTCCAGACAGTTTTCTTC	0.443																																							uc011lvo.1		NA																	0				ovary(1)|skin(1)	2						c.(73-75)ACA>AGA		olfactory receptor, family 13, subfamily C,							187.0	185.0	186.0					9																	107331522		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331522C>G		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.74C>G	9.37:g.107331522C>G	ENSP00000334068:p.Thr25Arg						p.T25R	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	74	+			25			Extracellular (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.74C>G	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	5.104	0.204850	0.09704	.	.	ENSG00000186943	ENST00000335040	T	0.00441	7.41	4.97	3.05	0.35203	.	0.421029	0.20647	N	0.088287	T	0.00178	0.0005	N	0.08118	0	0.21105	N	0.999786	B	0.06786	0.001	B	0.09377	0.004	T	0.37009	-0.9724	10	0.23891	T	0.37	.	3.4063	0.07341	0.2017:0.5785:0.0:0.2198	.	25	Q8NGS7	O13C8_HUMAN	R	25	ENSP00000334068:T25R	ENSP00000334068:T25R	T	+	2	0	OR13C8	106371343	0.000000	0.05858	0.998000	0.56505	0.572000	0.35998	0.056000	0.14256	1.372000	0.46190	0.655000	0.94253	ACA		0.443	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			51	61	0	0	0	0.00361	0	51	61				
ABCA1	19	broad.mit.edu	37	9	107574976	107574976	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:107574976C>A	ENST00000374736.3	-	28	4323	c.3929G>T	c.(3928-3930)gGg>gTg	p.G1310V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1310					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCCATCCATCCCACTGAGCAA	0.488																																							uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(3928-3930)GGG>GTG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						154.0	138.0	143.0					9																	107574976		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107574976C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3929G>T	9.37:g.107574976C>A	ENSP00000363868:p.Gly1310Val						p.G1310V	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	28	4242	-			1310					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.3929G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657772	0.47467	.	.	ENSG00000165029	ENST00000374736	D	0.92495	-3.05	5.93	5.93	0.95920	.	0.049027	0.85682	D	0.000000	D	0.91150	0.7213	L	0.55481	1.735	0.80722	D	1	B	0.23442	0.085	B	0.25140	0.058	D	0.86762	0.1967	10	0.46703	T	0.11	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	1310	O95477	ABCA1_HUMAN	V	1310	ENSP00000363868:G1310V	ENSP00000363868:G1310V	G	-	2	0	ABCA1	106614797	1.000000	0.71417	0.998000	0.56505	0.425000	0.31504	5.752000	0.68728	2.826000	0.97356	0.655000	0.94253	GGG		0.488	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		35	56	1	0	2.75727e-19	0.004878	4.71918e-19	35	56				
KLF4	9314	broad.mit.edu	37	9	110249774	110249774	+	Missense_Mutation	SNP	C	C	A	rs367723954		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:110249774C>A	ENST00000374672.4	-	3	1374	c.901G>T	c.(901-903)Gct>Tct	p.A301S		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	301	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TCGTGTGCAGCCGGCCGGTGG	0.697																																							uc004bdh.2		NA																	0				central_nervous_system(2)|lung(1)	3						c.(874-876)GCT>TCT		Kruppel-like factor 4 (gut)							13.0	16.0	15.0					9																	110249774		2190	4288	6478	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249774C>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.901G>T	9.37:g.110249774C>A	ENSP00000363804:p.Ala301Ser					KLF4_uc004bdf.1_Missense_Mutation_p.A251S|KLF4_uc004bdg.2_Missense_Mutation_p.A301S	p.A292S	NM_004235	NP_004226	O43474	KLF4_HUMAN			3	1495	-			301			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.874G>T	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	3.347	-0.133403	0.06711	.	.	ENSG00000136826	ENST00000374672	T	0.04862	3.54	4.71	1.49	0.22878	.	1.657310	0.03720	N	0.251671	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39742	-0.9599	10	0.06891	T	0.86	.	8.4772	0.33021	0.0:0.1218:0.4832:0.3949	.	301;301	O43474;O43474-1	KLF4_HUMAN;.	S	301	ENSP00000363804:A301S	ENSP00000363804:A301S	A	-	1	0	KLF4	109289595	0.001000	0.12720	0.001000	0.08648	0.931000	0.56810	0.365000	0.20348	0.045000	0.15804	-0.339000	0.08088	GCT		0.697	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		6	9	1	0	2.7689e-08	0.001984	3.45869e-08	6	9				
SUSD1	64420	broad.mit.edu	37	9	114820804	114820804	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:114820804T>C	ENST00000374270.3	-	14	2185	c.2013A>G	c.(2011-2013)atA>atG	p.I671M	SUSD1_ENST00000374263.3_Missense_Mutation_p.I671M|SUSD1_ENST00000374264.2_Missense_Mutation_p.I671M	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	671						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCCTGTCTCCTATAGGTATCT	0.438																																							uc004bfu.2		NA																	0					0						c.(2011-2013)ATA>ATG		sushi domain containing 1 precursor							130.0	115.0	120.0					9																	114820804		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114820804T>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.2013A>G	9.37:g.114820804T>C	ENSP00000363388:p.Ile671Met					SUSD1_uc010mui.2_Missense_Mutation_p.I671M|SUSD1_uc010muj.2_Missense_Mutation_p.I671M	p.I671M	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			14	2054	-			671			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.2013A>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.27|10.27	1.303445|1.303445	0.23736|0.23736	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|.	0.49139|.	0.79;0.79;0.79|.	5.57|5.57	0.23|0.23	0.15372|0.15372	.|.	0.439127|.	0.19370|.	N|.	0.115931|.	T|T	0.47097|0.47097	0.1427|0.1427	M|M	0.69823|0.69823	2.125|2.125	0.29954|0.29954	N|N	0.820002|0.820002	B;B;B|.	0.28850|.	0.225;0.225;0.144|.	B;B;B|.	0.23716|.	0.048;0.032;0.022|.	T|T	0.48714|0.48714	-0.9011|-0.9011	10|5	0.51188|.	T|.	0.08|.	-4.7863|-4.7863	2.7292|2.7292	0.05222|0.05222	0.4482:0.119:0.0662:0.3666|0.4482:0.119:0.0662:0.3666	.|.	671;671;671|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	M|G	671|655	ENSP00000363388:I671M;ENSP00000363381:I671M;ENSP00000363382:I671M|.	ENSP00000363381:I671M|.	I|R	-|-	3|1	3|2	SUSD1|SUSD1	113860625|113860625	0.984000|0.984000	0.35163|0.35163	0.504000|0.504000	0.27639|0.27639	0.538000|0.538000	0.34931|0.34931	0.180000|0.180000	0.16860|0.16860	-0.203000|-0.203000	0.10251|0.10251	-0.339000|-0.339000	0.08088|0.08088	ATA|AGG		0.438	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		37	40	0	0	0	0.004878	0	37	40				
ZFP37	7539	broad.mit.edu	37	9	115805811	115805811	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:115805811C>A	ENST00000374227.3	-	4	1114	c.1087G>T	c.(1087-1089)Gca>Tca	p.A363S	ZFP37_ENST00000553380.1_Missense_Mutation_p.A378S|ZFP37_ENST00000555206.1_Missense_Mutation_p.A364S	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	363					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)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAGTGAGTGCATGTTTATGA	0.413																																							uc004bgm.1		NA																	0				ovary(1)|skin(1)	2						c.(1087-1089)GCA>TCA		zinc finger protein 37 homolog							116.0	115.0	115.0					9																	115805811		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805811C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1087G>T	9.37:g.115805811C>A	ENSP00000363344:p.Ala363Ser					ZFP37_uc011lwz.1_Missense_Mutation_p.A378S|ZFP37_uc011lxa.1_Missense_Mutation_p.A364S	p.A363S	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1115	-			363			C2H2-type 3; atypical.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1087G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	3.346	-0.133546	0.06711	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.07444	3.19;3.19;3.19	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000725	T	0.03011	0.0089	N	0.01751	-0.74	0.09310	N	1	P;P;B	0.38370	0.628;0.628;0.135	B;B;B	0.37601	0.254;0.254;0.18	T	0.40646	-0.9552	10	0.02654	T	1	-8.7507	14.8785	0.70513	0.0:1.0:0.0:0.0	.	364;378;363	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	S	363;364;378	ENSP00000363344:A363S;ENSP00000451310:A364S;ENSP00000452552:A378S	ENSP00000363344:A363S	A	-	1	0	ZFP37	114845632	0.000000	0.05858	1.000000	0.80357	0.948000	0.59901	-1.768000	0.01794	2.640000	0.89533	0.655000	0.94253	GCA		0.413	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		31	32	1	0	3.99451e-17	0.009535	6.52314e-17	31	32				
COL27A1	85301	broad.mit.edu	37	9	117028854	117028854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:117028854G>T	ENST00000356083.3	+	33	3794	c.3403G>T	c.(3403-3405)Gga>Tga	p.G1135*		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1135	Collagen-like 9.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGCCCTCAGGGACCCCAGGG	0.602																																							uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(3403-3405)GGA>TGA		collagen, type XXVII, alpha 1 precursor							70.0	75.0	74.0					9																	117028854		2203	4300	6503	SO:0001587	stop_gained	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117028854G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3403G>T	9.37:g.117028854G>T	ENSP00000348385:p.Gly1135*					COL27A1_uc004bii.2_RNA	p.G1135*	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			33	3403	+			1135			Pro-rich.|Collagen-like 9.|Triple-helical region.		Q66K43|Q96JF7	Nonsense_Mutation	SNP	ENST00000356083.3	37	c.3403G>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	46	12.618339	0.99683	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7245	0.69332	0.0:0.0:1.0:0.0	.	.	.	.	X	1135	.	ENSP00000348385:G1135X	G	+	1	0	COL27A1	116068675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.074000	0.71253	2.539000	0.85634	0.561000	0.74099	GGA		0.602	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		17	28	1	0	2.94398e-08	0.007413	3.67417e-08	17	28				
DEC1	50514	broad.mit.edu	37	9	118164403	118164403	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:118164403G>A	ENST00000374016.1	+	8	731	c.212G>A	c.(211-213)tGa>tAa	p.*71*		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	0					negative regulation of cell proliferation (GO:0008285)					kidney(1)|large_intestine(1)|ovary(1)	3						ccagcagattgaatgtaagtg	0.373																																							uc004bjk.1		NA																	0				ovary(1)	1						c.(211-213)TGA>TAA		deleted in esophageal cancer 1							76.0	73.0	74.0					9																	118164403		2203	4300	6503	SO:0001819	synonymous_variant	50514				negative regulation of cell proliferation			g.chr9:118164403G>A	AB022761	CCDS6812.1	9q32	2008-02-05			ENSG00000173077	ENSG00000173077			23658	protein-coding gene	gene with protein product		604767				8603412, 10612805	Standard	NM_017418		Approved	CTS9	uc004bjk.1	Q9P2X7	OTTHUMG00000020549	ENST00000374016.1:c.212G>A	9.37:g.118164403G>A						DEC1_uc004bjl.1_RNA	p.*71*	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN			8	731	+			71						Silent	SNP	ENST00000374016.1	37	c.212G>A	CCDS6812.1																																																																																				0.373	DEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053791.1	NM_017418		12	27	0	0	0	0.001855	0	12	27				
PAPPA	5069	broad.mit.edu	37	9	118969867	118969867	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:118969867C>A	ENST00000328252.3	+	3	1980	c.1611C>A	c.(1609-1611)gcC>gcA	p.A537A	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	537	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACAAGGAGGCCCTGATGCACT	0.433																																							uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(1609-1611)GCC>GCA		pregnancy-associated plasma protein A							71.0	67.0	68.0					9																	118969867		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118969867C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1611C>A	9.37:g.118969867C>A						PAPPA_uc011lxp.1_Silent_p.A330A|PAPPA_uc011lxq.1_Intron	p.A537A	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			3	1992	+			537			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.1611C>A	CCDS6813.1																																																																																				0.433	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		15	30	1	0	0.000308642	0.003163	0.000333212	15	30				
ASTN2	23245	broad.mit.edu	37	9	119738981	119738981	+	Splice_Site	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:119738981C>T	ENST00000313400.4	-	8	1775	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Splice_Site_p.G508R|ASTN2_ENST00000373996.3_Splice_Site_p.G559R			O75129	ASTN2_HUMAN	astrotactin 2	559					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				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						GCCACTCACCCTTCACTCTGT	0.537																																							uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1675-1677)GGA>AGA		astrotactin 2 isoform c							112.0	88.0	96.0					9																	119738981		2203	4300	6503	SO:0001630	splice_region_variant	23245					integral to membrane		g.chr9:119738981C>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.1676+1G>A	9.37:g.119738981C>T						ASTN2_uc004bjr.1_Missense_Mutation_p.G559R|ASTN2_uc004bjt.1_Missense_Mutation_p.G508R	p.G559R	NM_198187	NP_937830	O75129	ASTN2_HUMAN			8	1776	-			559			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1675G>A		.	.	.	.	.	.	.	.	.	.	C	22.4	4.279049	0.80692	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.24908	2.05;1.93;1.83;2.15	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.972	D;D;P	0.97110	1.0;0.999;0.844	T	0.06516	-1.0822	9	.	.	.	-10.8297	19.9343	0.97131	0.0:1.0:0.0:0.0	.	508;559;559	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	R	559;559;286;508	ENSP00000314038:G559R;ENSP00000363108:G559R;ENSP00000363098:G286R;ENSP00000354504:G508R	.	G	-	1	0	ASTN2	118778802	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.456000	0.80751	2.712000	0.92718	0.650000	0.86243	GGA		0.537	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	Missense_Mutation	18	21	0	0	0	0.007413	0	18	21				
MRRF	92399	broad.mit.edu	37	9	125075536	125075536	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:125075536G>T	ENST00000344641.3	+	6	893	c.582G>T	c.(580-582)gtG>gtT	p.V194V	MRRF_ENST00000373729.1_Silent_p.V150V|MRRF_ENST00000373723.5_Intron|MRRF_ENST00000297908.3_Silent_p.V142V|MRRF_ENST00000394315.3_Intron	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	194					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						AAATGCTGGTGAAACTGGCCA	0.403																																							uc004bmb.2		NA																	0				ovary(2)|skin(1)	3						c.(580-582)GTG>GTT		mitochondrial ribosome recycling factor isoform							114.0	95.0	101.0					9																	125075536		2203	4300	6503	SO:0001819	synonymous_variant	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125075536G>T	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.582G>T	9.37:g.125075536G>T						MRRF_uc004bmc.2_Intron|MRRF_uc010mvz.1_RNA|MRRF_uc010mwa.2_Silent_p.V194V|MRRF_uc011lyr.1_Silent_p.V142V|MRRF_uc004bmd.2_Silent_p.V194V|MRRF_uc004bme.2_RNA	p.V194V	NM_138777	NP_620132	Q96E11	RRFM_HUMAN			6	697	+			194					A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Silent	SNP	ENST00000344641.3	37	c.582G>T	CCDS6840.1																																																																																				0.403	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777		11	11	1	0	5.16669e-11	0.000978	7.13614e-11	11	11				
PTGS1	5742	broad.mit.edu	37	9	125154553	125154553	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:125154553G>A	ENST00000362012.2	+	11	1535	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	PTGS1_ENST00000373698.5_Silent_p.K401K|PTGS1_ENST00000223423.4_Silent_p.K473K|PTGS1_ENST00000540753.1_Silent_p.K448K	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)	510					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)			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)	TTCTTGAAAAGTGCCATCCAA	0.483																																							uc004bmg.1		NA																	0				ovary(1)|skin(1)	2						c.(1528-1530)AAG>AAA		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)						82.0	85.0	84.0					9																	125154553		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:125154553G>A	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.1530G>A	9.37:g.125154553G>A						PTGS1_uc011lys.1_Silent_p.K448K|PTGS1_uc010mwb.1_Silent_p.K364K|PTGS1_uc004bmf.1_Silent_p.K473K|PTGS1_uc004bmh.1_Silent_p.K401K|PTGS1_uc011lyt.1_Silent_p.K401K	p.K510K	NM_000962	NP_000953	P23219	PGH1_HUMAN			11	1665	+			510					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.1530G>A	CCDS6842.1																																																																																				0.483	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			34	53	0	0	0	0.002836	0	34	53				
CRB2	286204	broad.mit.edu	37	9	126133229	126133229	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:126133229C>G	ENST00000373631.3	+	7	1898	c.1897C>G	c.(1897-1899)Cgg>Ggg	p.R633G	CRB2_ENST00000373629.2_Missense_Mutation_p.R301G|CRB2_ENST00000359999.3_Missense_Mutation_p.R633G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	633	EGF-like 10. {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)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGACTGTGCCCGGCCCCATAG	0.637																																							uc004bnx.1		NA																	0				ovary(1)	1						c.(1897-1899)CGG>GGG		crumbs homolog 2 precursor							61.0	64.0	63.0					9																	126133229		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133229C>G	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.1897C>G	9.37:g.126133229C>G	ENSP00000362734:p.Arg633Gly					CRB2_uc004bnw.1_Missense_Mutation_p.R633G	p.R633G	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			7	1989	+			633			Extracellular (Potential).|EGF-like 10.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1897C>G	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	C	9.209	1.030507	0.19512	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.79141	-1.24;-1.24;-1.24	5.03	1.58	0.23477	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41712	D	0.000834	D	0.84061	0.5389	L	0.53617	1.68	0.40595	D	0.981523	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.84792	0.0779	10	0.56958	D	0.05	.	14.6753	0.68975	0.4919:0.5081:0.0:0.0	.	633;633	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	G	633;633;301	ENSP00000353092:R633G;ENSP00000362734:R633G;ENSP00000362732:R301G	ENSP00000353092:R633G	R	+	1	2	CRB2	125173050	0.385000	0.25172	0.602000	0.28890	0.000000	0.00434	1.016000	0.29976	0.463000	0.27118	-0.558000	0.04189	CGG		0.637	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		17	32	0	0	0	0.008871	0	17	32				
ODF2	4957	broad.mit.edu	37	9	131262530	131262530	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:131262530C>G	ENST00000434106.3	+	21	2849	c.2486C>G	c.(2485-2487)gCc>gGc	p.A829G	ODF2_ENST00000604420.1_Missense_Mutation_p.A829G|ODF2_ENST00000444119.2_Missense_Mutation_p.A805G|ODF2_ENST00000372807.5_Missense_Mutation_p.A824G|ODF2_ENST00000351030.3_Missense_Mutation_p.A824G|ODF2_ENST00000393527.3_Missense_Mutation_p.A805G	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	829					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TCTCCTCCTGCCTGAGGCCAC	0.552																																							uc011mbd.1		NA																	0				ovary(1)	1						c.(2485-2487)GCC>GGC		outer dense fiber of sperm tails 2 isoform 1							121.0	107.0	112.0					9																	131262530		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131262530C>G	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2486C>G	9.37:g.131262530C>G	ENSP00000403453:p.Ala829Gly					ODF2_uc004bvb.2_Missense_Mutation_p.A805G|ODF2_uc011mbe.1_Missense_Mutation_p.A824G|ODF2_uc004bvc.2_Missense_Mutation_p.A805G|ODF2_uc004bvd.3_Missense_Mutation_p.A829G|ODF2_uc004bvh.2_Missense_Mutation_p.A235G	p.A829G	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			21	2797	+			829					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.2486C>G	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301844	0.60195	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.27402	1.73;1.67;1.74	5.5	-0.278	0.12894	.	1.257880	0.05604	N	0.576864	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.28933	-1.0028	10	0.56958	D	0.05	.	5.5708	0.17196	0.0:0.439:0.1404:0.4206	.	824;174;829;805	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	G	824;829;805	ENSP00000342581:A824G;ENSP00000361882:A829G;ENSP00000307781:A805G	ENSP00000307781:A805G	A	+	2	0	ODF2	130302351	0.142000	0.22610	0.055000	0.19348	0.485000	0.33311	-0.055000	0.11807	0.021000	0.15133	-0.254000	0.11334	GCC		0.552	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			22	50	0	0	0	0.002299	0	22	50				
LAMC3	10319	broad.mit.edu	37	9	133932507	133932507	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:133932507C>A	ENST00000361069.4	+	12	2264	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	711	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACCTGTAACCAGCATGGCAC	0.587																																							uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(2131-2133)CAG>AAG		laminin, gamma 3 precursor							66.0	65.0	65.0					9																	133932507		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133932507C>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2131C>A	9.37:g.133932507C>A	ENSP00000354360:p.Gln711Lys						p.Q711K	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	12	2229	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	711			Laminin EGF-like 6.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2131C>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921536	0.52653	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.62639	0.01	4.79	4.79	0.61399	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	L	0.31926	0.97	0.42316	D	0.992233	B	0.29188	0.236	B	0.33960	0.173	T	0.60999	-0.7151	10	0.66056	D	0.02	.	16.907	0.86131	0.0:1.0:0.0:0.0	.	711	Q9Y6N6	LAMC3_HUMAN	K	711	ENSP00000354360:Q711K	ENSP00000347156:Q711K	Q	+	1	0	LAMC3	132922328	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.796000	0.47869	2.219000	0.72066	0.644000	0.83932	CAG		0.587	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		23	27	1	0	1.85244e-09	0.00333	2.40244e-09	23	27				
LAMC3	10319	broad.mit.edu	37	9	133942388	133942388	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:133942388C>A	ENST00000361069.4	+	14	2522	c.2389C>A	c.(2389-2391)Ccg>Acg	p.P797T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	797	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.P797S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTTTGGGGACCCGCTGGGGCT	0.647																																							uc004caa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2389-2391)CCG>ACG		laminin, gamma 3 precursor							49.0	51.0	51.0					9																	133942388		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133942388C>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2389C>A	9.37:g.133942388C>A	ENSP00000354360:p.Pro797Thr						p.P797T	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	14	2487	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	797			Laminin EGF-like 7.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2389C>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786702	0.90367	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.62498	0.02	4.8	4.8	0.61643	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.86247	0.5887	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91224	0.5009	10	0.87932	D	0	.	17.2687	0.87095	0.0:1.0:0.0:0.0	.	797	Q9Y6N6	LAMC3_HUMAN	T	797	ENSP00000354360:P797T	ENSP00000347156:P797T	P	+	1	0	LAMC3	132932209	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	7.750000	0.85110	2.385000	0.81259	0.650000	0.86243	CCG		0.647	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		20	26	1	0	1.33834e-09	0.007413	1.73886e-09	20	26				
OBP2B	29989	broad.mit.edu	37	9	136083520	136083520	+	Splice_Site	SNP	A	A	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:136083520A>T	ENST00000372034.3	-	3	318	c.277T>A	c.(277-279)Tat>Aat	p.Y93N	OBP2B_ENST00000372032.2_Splice_Site_p.L48Q|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	93					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		aggggCTCACAGGCGCTGTAT	0.642																																							uc004ccz.2		NA																	0					0						c.(277-279)TAT>AAT		odorant binding protein 2B precursor							49.0	47.0	48.0					9																	136083520		2203	4300	6503	SO:0001630	splice_region_variant	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136083520A>T	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.277+1T>A	9.37:g.136083520A>T						OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.Y25N	p.Y93N	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	3	319	-			93					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.277T>A	CCDS6961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.07|13.07	2.126602|2.126602	0.37533|0.37533	.|.	.|.	ENSG00000171102|ENSG00000171102	ENST00000372032|ENST00000372034	T|T	0.08102|0.12774	3.13|2.65	1.91|1.91	-3.29|-3.29	0.05017|0.05017	.|Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.|1.733480	.|0.03496	.|N	.|0.217386	T|T	0.08714|0.08714	0.0216|0.0216	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.12156	.|0.007	T|T	0.28235|0.28235	-1.0050|-1.0050	6|9	.|.	.|.	.|.	0.2437|0.2437	2.1206|2.1206	0.03724|0.03724	0.3451:0.0:0.1777:0.4771|0.3451:0.0:0.1777:0.4771	.|.	.|93	.|Q9NPH6	.|OBP2B_HUMAN	Q|N	48|93	ENSP00000361102:L48Q|ENSP00000361104:Y93N	.|.	L|Y	-|-	2|1	0|0	OBP2B|OBP2B	135073341|135073341	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.003000|0.003000	0.03518|0.03518	-0.018000|-0.018000	0.12568|0.12568	-0.793000|-0.793000	0.04475|0.04475	0.477000|0.477000	0.44152|0.44152	CTA|TAT		0.642	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581	Missense_Mutation	10	11	0	0	0	0.008291	0	10	11				
BRD3	8019	broad.mit.edu	37	9	136915621	136915621	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:136915621C>A	ENST00000303407.7	-	5	774	c.589G>T	c.(589-591)Gct>Tct	p.A197S	BRD3_ENST00000371834.2_Missense_Mutation_p.A197S|BRD3_ENST00000357885.2_Missense_Mutation_p.A197S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	197					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGGTGGCAGCGATGACGGGC	0.657			T	C15orf55	lethal midline carcinoma of young people																																		uc004cew.2		NA		Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	NUT|C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				stomach(4)|midline_organs(3)|kidney(1)	8						c.(589-591)GCT>TCT		bromodomain containing protein 3							74.0	85.0	81.0					9																	136915621		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136915621C>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.589G>T	9.37:g.136915621C>A	ENSP00000305918:p.Ala197Ser					BRD3_uc004cex.2_Missense_Mutation_p.A197S	p.A197S	NM_007371	NP_031397	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	5	777	-			197					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.589G>T	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876074	0.33162	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.60920	0.15;0.15;0.15	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.41534	0.1163	L	0.28115	0.83	0.48762	D	0.999709	B;B	0.33000	0.393;0.086	B;B	0.29862	0.108;0.015	T	0.35822	-0.9773	10	0.06625	T	0.88	-2.874	17.3626	0.87355	0.0:1.0:0.0:0.0	.	197;197	Q15059-2;Q15059	.;BRD3_HUMAN	S	197	ENSP00000305918:A197S;ENSP00000360900:A197S;ENSP00000350557:A197S	ENSP00000305918:A197S	A	-	1	0	BRD3	135905442	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.260000	0.58835	2.404000	0.81709	0.491000	0.48974	GCT		0.657	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		35	41	1	0	4.11147e-13	0.003755	6.03581e-13	35	41				
KCNT1	57582	broad.mit.edu	37	9	138656922	138656922	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:138656922G>T	ENST00000263604.3	+	12	1024	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C	KCNT1_ENST00000298480.5_Missense_Mutation_p.G361C|KCNT1_ENST00000371757.2_Missense_Mutation_p.G361C|KCNT1_ENST00000486577.2_Missense_Mutation_p.G322C|KCNT1_ENST00000490355.2_Missense_Mutation_p.G342C|KCNT1_ENST00000491806.2_Missense_Mutation_p.G328C|KCNT1_ENST00000487664.1_Missense_Mutation_p.G316C|KCNT1_ENST00000488444.2_Missense_Mutation_p.G342C			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	342					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAAGTCAGGGGGCAACTACAG	0.607																																							uc011mdq.1		NA																	0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(1081-1083)GGC>TGC		potassium channel, subfamily T, member 1							130.0	115.0	120.0					9																	138656922		2202	4300	6502	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138656922G>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1024G>T	9.37:g.138656922G>T	ENSP00000263604:p.Gly342Cys					KCNT1_uc011mdr.1_Missense_Mutation_p.G188C|KCNT1_uc010nbf.2_Missense_Mutation_p.G316C|KCNT1_uc004cgo.1_Missense_Mutation_p.G110C	p.G361C	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	12	1155	+		Myeloproliferative disorder(178;0.0821)	361					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1081G>T		.	.	.	.	.	.	.	.	.	.	G	26.1	4.703752	0.88924	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.28666	1.64;1.61;1.62;1.6	4.07	4.07	0.47477	.	0.000000	0.64402	U	0.000001	T	0.55862	0.1947	M	0.77616	2.38	0.80722	D	1	D;D;D;P	0.65815	0.978;0.987;0.995;0.921	P;P;D;P	0.70716	0.897;0.897;0.97;0.687	T	0.63752	-0.6566	10	0.87932	D	0	-27.5326	15.4297	0.75084	0.0:0.0:1.0:0.0	.	328;361;316;342	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	C	316;361;361;322;328;342;342;342	ENSP00000417851:G316C;ENSP00000298480:G361C;ENSP00000360822:G361C;ENSP00000263604:G342C	ENSP00000263604:G342C	G	+	1	0	KCNT1	137796743	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.285000	0.95894	2.098000	0.63641	0.462000	0.41574	GGC		0.607	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		14	22	1	0	9.31168e-06	0.001855	1.06762e-05	14	22				
QSOX2	169714	broad.mit.edu	37	9	139100583	139100583	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:139100583C>A	ENST00000358701.5	-	12	2125	c.2088G>T	c.(2086-2088)ccG>ccT	p.P696P		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	696					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTCACACGGCCGGGTGGTGGT	0.597																																							uc010nbi.2		NA																	0				ovary(1)	1						c.(2086-2088)CCG>CCT		quiescin Q6 sulfhydryl oxidase 2 precursor							55.0	47.0	50.0					9																	139100583		2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139100583C>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.2088G>T	9.37:g.139100583C>A							p.P696P	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	12	2126	-		Myeloproliferative disorder(178;0.0511)	696					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.2088G>T	CCDS35178.1																																																																																				0.597	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		18	15	1	0	8.00594e-06	0.007413	9.20134e-06	18	15				
GPSM1	26086	broad.mit.edu	37	9	139233111	139233111	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:139233111G>T	ENST00000440944.1	+	7	1138	c.918G>T	c.(916-918)gaG>gaT	p.E306D	GPSM1_ENST00000392945.3_Missense_Mutation_p.E306D	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	306	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		AGGACTACGAGCGCGCGGCCG	0.701																																							uc004chd.2		NA																	0					0						c.(916-918)GAG>GAT		G-protein signaling modulator 1 (AGS3-like, C.							35.0	28.0	30.0					9																	139233111		2181	4282	6463	SO:0001583	missense	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139233111G>T	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.918G>T	9.37:g.139233111G>T	ENSP00000392828:p.Glu306Asp					GPSM1_uc004chc.2_Missense_Mutation_p.E306D	p.E306D	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	7	1138	+		Myeloproliferative disorder(178;0.0821)	306			TPR 8.|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	c.918G>T	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315101	0.40996	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.78126	-1.15;-1.15;-1.15	4.57	3.66	0.41972	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.244296	0.31821	U	0.007014	T	0.79528	0.4461	L	0.42529	1.33	0.80722	D	1	D;B	0.54772	0.968;0.0	P;B	0.55965	0.788;0.001	T	0.78321	-0.2249	10	0.39692	T	0.17	-15.9308	13.8989	0.63790	0.0:0.154:0.846:0.0	.	306;306	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	D	306;306;283	ENSP00000376674:E306D;ENSP00000392828:E306D;ENSP00000346797:E283D	ENSP00000346797:E283D	E	+	3	2	GPSM1	138352932	1.000000	0.71417	0.985000	0.45067	0.740000	0.42216	1.776000	0.38594	1.016000	0.39470	0.561000	0.74099	GAG		0.701	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		7	6	1	0	2.7689e-08	0.001984	3.45869e-08	7	6				
NOTCH1	4851	broad.mit.edu	37	9	139401182	139401182	+	Missense_Mutation	SNP	C	C	A	rs368400902		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:139401182C>A	ENST00000277541.6	-	23	3962	c.3887G>T	c.(3886-3888)cGt>cTt	p.R1296L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1296	EGF-like 33. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGACCAGCACGGCACTCGCA	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3886-3888)CGT>CTT		notch1 preproprotein							21.0	28.0	26.0					9																	139401182		2105	4214	6319	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401182C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3887G>T	9.37:g.139401182C>A	ENSP00000277541:p.Arg1296Leu	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.R526L	p.R1296L	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	23	3887	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1296			Extracellular (Potential).|EGF-like 33.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3887G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092608	0.94149	.	.	ENSG00000148400	ENST00000277541	D	0.86769	-2.17	5.14	4.22	0.49857	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	N	0.16903	0.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84248	0.0476	10	0.23302	T	0.38	.	13.8583	0.63542	0.1538:0.8462:0.0:0.0	.	1296	P46531	NOTC1_HUMAN	L	1296	ENSP00000277541:R1296L	ENSP00000277541:R1296L	R	-	2	0	NOTCH1	138521003	0.998000	0.40836	0.751000	0.31187	0.952000	0.60782	3.635000	0.54309	1.118000	0.41863	0.655000	0.94253	CGT		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	2	1	0	0.00909568	0.009096	0.0094611	4	2				
MAN1B1	11253	broad.mit.edu	37	9	139990738	139990738	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:139990738C>A	ENST00000371589.4	+	4	588	c.515C>A	c.(514-516)cCc>cAc	p.P172H	MAN1B1_ENST00000474902.1_5'UTR|SNORD62_ENST00000362541.1_RNA	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	172					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CAGATTAGACCCCCAAGCCAA	0.582																																							uc004cld.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(514-516)CCC>CAC		alpha 1,2-mannosidase							70.0	67.0	68.0					9																	139990738		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139990738C>A	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.515C>A	9.37:g.139990738C>A	ENSP00000360645:p.Pro172His					MAN1B1_uc004clc.2_Missense_Mutation_p.P73H|MAN1B1_uc011meo.1_Missense_Mutation_p.P73H|MAN1B1_uc011mep.1_Missense_Mutation_p.P172H|MAN1B1_uc010ncc.2_RNA	p.P172H	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	4	550	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	172			Lumenal (Potential).		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.515C>A	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.34|16.34	3.095001|3.095001	0.56075|0.56075	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000371589|ENST00000540346	T|.	0.72282|.	-0.64|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.517302|0.517302	0.18214|0.18214	U|U	0.148094|0.148094	T|T	0.61615|0.61615	0.2361|0.2361	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.61080|.	0.947;0.989;0.958;0.987|.	P;P;P;P|.	0.61722|.	0.527;0.608;0.608;0.893|.	T|T	0.58607|0.58607	-0.7607|-0.7607	9|6	.|.	.|.	.|.	-4.4475|-4.4475	16.0538|16.0538	0.80779|0.80779	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	73;136;172;73|.	B4DPS9;B4DR05;Q9UKM7;Q68D80|.	.;.;MA1B1_HUMAN;.|.	H|T	172|169	ENSP00000360645:P172H|.	.|.	P|P	+|+	2|1	0|0	MAN1B1|MAN1B1	139110559|139110559	0.602000|0.602000	0.26916|0.26916	0.997000|0.997000	0.53966|0.53966	0.127000|0.127000	0.20565|0.20565	3.896000|3.896000	0.56266|0.56266	2.212000|2.212000	0.71576|0.71576	0.491000|0.491000	0.48974|0.48974	CCC|CCC		0.582	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		14	21	1	0	4.3838e-07	0.001855	5.25466e-07	14	21				
CACNA1B	774	broad.mit.edu	37	9	141016023	141016023	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:141016023C>A	ENST00000371372.1	+	47	6737	c.6592C>A	c.(6592-6594)Cgc>Agc	p.R2198S	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2197S|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1392S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2196S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2199S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2198					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)			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)	CCTGACTCCCCGCCCCAGCAT	0.687																																							uc004cog.2		NA																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(6592-6594)CGC>AGC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)																																			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.chr9:141016023C>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.6592C>A	9.37:g.141016023C>A	ENSP00000360423:p.Arg2198Ser					CACNA1B_uc004coi.2_Missense_Mutation_p.R1410S	p.R2198S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	46	6737	+	all_cancers(76;0.166)		2198			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.6592C>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564070	0.65651	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99429	-5.46;-5.89;-5.49;-5.47;-5.45	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	M	0.79926	2.475	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66716	0.946;0.946	D	0.99425	1.0934	10	0.37606	T	0.19	.	18.2603	0.90033	0.0:1.0:0.0:0.0	.	2197;2196	B1AQK7;B1AQK6	.;.	S	2198;1392;2196;2197;2199	ENSP00000360423:R2198S;ENSP00000277549:R1392S;ENSP00000360414:R2196S;ENSP00000360408:R2197S;ENSP00000360406:R2199S	ENSP00000277549:R1392S	R	+	1	0	CACNA1B	140135844	1.000000	0.71417	0.999000	0.59377	0.186000	0.23388	5.494000	0.66905	2.315000	0.78130	0.555000	0.69702	CGC		0.687	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		11	8	1	0	3.86212e-05	0.008291	4.31346e-05	11	8				
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	RNA	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:141071110A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597																																							uc004com.2		NA																	7	Substitution - coding silent(7)		kidney(3)|prostate(2)|endometrium(2)		0						c.(511-513)CCA>CCG		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071110A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071110A>G						TUBBP5_uc010ncq.2_3'UTR	p.P171P							4	774	+									Silent	SNP	ENST00000503395.1	37	c.513A>G																																																																																					0.597	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		3	60	0	0	0	0.004672	0	3	60				
DHRSX	207063	broad.mit.edu	37	X	2184953	2184953	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:2184953C>A	ENST00000334651.5	-	5	476	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	142							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCGAATCCATCTCTGGTTTTC	0.507																																							uc004cqf.3		NA																	0					0						c.(424-426)GAT>TAT		dehydrogenase/reductase (SDR family) X-linked							333.0	300.0	311.0					X																	2184953		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2184953C>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.424G>T	X.37:g.2184953C>A	ENSP00000334113:p.Asp142Tyr						p.D142Y	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			5	473	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	142					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.424G>T	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820793	0.50633	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.26660	1.72;1.72;1.72	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.56108	0.1963	M	0.91510	3.215	0.29380	N	0.863364	D	0.89917	1.0	D	0.97110	1.0	T	0.60403	-0.7270	10	0.87932	D	0	.	12.246	0.54571	0.0:1.0:0.0:0.0	.	142	Q8N5I4	DHRSX_HUMAN	Y	142;119;75	ENSP00000334113:D142Y;ENSP00000391778:D119Y;ENSP00000402741:D75Y	ENSP00000334113:D142Y	D	-	1	0	DHRSX	2194953	0.999000	0.42202	0.084000	0.20598	0.804000	0.45430	5.205000	0.65186	0.856000	0.35383	0.272000	0.19324	GAT		0.507	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		63	16	1	0	1.12612e-26	0.00361	2.14384e-26	63	16				
GYG2	8908	broad.mit.edu	37	X	2772127	2772127	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:2772127C>T	ENST00000381163.3	+	5	631	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Missense_Mutation_p.L117F|GYG2_ENST00000542787.1_Missense_Mutation_p.L117F|GYG2_ENST00000398806.3_Missense_Mutation_p.L86F	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	117					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGGCTCACCCTCACCAAGCT	0.502																																							uc004cqs.1		NA																	0				ovary(1)|kidney(1)	2						c.(349-351)CTC>TTC		glycogenin 2 isoform b							136.0	96.0	109.0					X																	2772127		2203	4298	6501	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2772127C>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.349C>T	X.37:g.2772127C>T	ENSP00000370555:p.Leu117Phe					GYG2_uc004cqt.1_Missense_Mutation_p.L86F|GYG2_uc004cqu.1_Missense_Mutation_p.L86F|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.L77F|GYG2_uc004cqx.1_Missense_Mutation_p.L86F|GYG2_uc010ndc.1_5'Flank	p.L117F	NM_003918	NP_003909	O15488	GLYG2_HUMAN			5	631	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	117					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.349C>T	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	C	5.602	0.295804	0.10622	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787;ENST00000520904	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	3.47	2.56	0.30785	.	0.213252	0.31495	N	0.007542	T	0.11580	0.0282	N	0.01188	-0.97	0.25742	N	0.985156	B;P;B;B;B	0.39809	0.201;0.689;0.042;0.038;0.092	B;B;B;B;B	0.37989	0.099;0.258;0.068;0.099;0.262	T	0.37150	-0.9718	10	0.02654	T	1	.	7.2719	0.26262	0.0:0.7233:0.0:0.2767	.	117;77;86;86;117	O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;GLYG2_HUMAN	F	86;117;117;117;86	ENSP00000381786:L86F;ENSP00000370555:L117F;ENSP00000341273:L117F;ENSP00000446092:L117F;ENSP00000430764:L86F	ENSP00000341273:L117F	L	+	1	0	GYG2	2782127	0.933000	0.31639	1.000000	0.80357	0.849000	0.48306	1.116000	0.31221	1.520000	0.48965	0.529000	0.55759	CTC		0.502	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		10	2	0	0	0	0.008291	0	10	2				
MXRA5	25878	broad.mit.edu	37	X	3240313	3240313	+	Missense_Mutation	SNP	G	G	T	rs140078324	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:3240313G>T	ENST00000217939.6	-	5	3567	c.3413C>A	c.(3412-3414)cCg>cAg	p.P1138Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1138						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGGATGACGGAGCAACTTT	0.527																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3412-3414)CCG>CAG		adlican precursor							106.0	92.0	97.0					X																	3240313		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240313G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3413C>A	X.37:g.3240313G>T	ENSP00000217939:p.Pro1138Gln						p.P1138Q	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	3570	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1138					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3413C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	6.245	0.413248	0.11812	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62941	-0.01	3.48	0.214	0.15249	.	0.872946	0.09285	U	0.823199	T	0.42017	0.1184	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.16722	0.016	T	0.32402	-0.9908	10	0.54805	T	0.06	.	11.7114	0.51626	0.0:0.5161:0.4839:0.0	.	1138	Q9NR99	MXRA5_HUMAN	Q	1138	ENSP00000217939:P1138Q	ENSP00000217939:P1138Q	P	-	2	0	MXRA5	3250313	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	1.603000	0.36794	-0.044000	0.13491	0.425000	0.28330	CCG		0.527	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		31	6	1	0	3.1745e-13	0.008361	4.66992e-13	31	6				
GLRA2	2742	broad.mit.edu	37	X	14625390	14625390	+	Splice_Site	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:14625390G>A	ENST00000218075.4	+	6	1245	c.715G>A	c.(715-717)Gga>Aga	p.G239R	GLRA2_ENST00000355020.4_Splice_Site_p.G239R|GLRA2_ENST00000443437.2_Splice_Site_p.G150R	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	239					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)			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)	CTACAACACTGGTAAGTTTCT	0.388																																							uc010nep.2		NA																	0				ovary(1)|lung(1)	2						c.(715-717)GGA>AGA		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						97.0	91.0	93.0					X																	14625390		2203	4300	6503	SO:0001630	splice_region_variant	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:14625390G>A		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.715+1G>A	X.37:g.14625390G>A						GLRA2_uc010neq.2_Missense_Mutation_p.G239R|GLRA2_uc004cwe.3_Missense_Mutation_p.G239R|GLRA2_uc011mio.1_Missense_Mutation_p.G150R|GLRA2_uc011mip.1_Missense_Mutation_p.G217R	p.G239R	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			7	1047	+	Hepatocellular(33;0.128)		239			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.715G>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.041048	0.93685	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	T;T;T	0.80738	-1.41;-1.41;-1.41	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.94711	0.7892	10	0.87932	D	0	.	18.4765	0.90795	0.0:0.0:1.0:0.0	.	223;239;239	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	R	150;239;239	ENSP00000387756:G150R;ENSP00000218075:G239R;ENSP00000347123:G239R	ENSP00000218075:G239R	G	+	1	0	GLRA2	14535311	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.715000	0.98748	2.391000	0.81399	0.600000	0.82982	GGA		0.388	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1		Missense_Mutation	16	8	0	0	0	0.010504	0	16	8				
CNKSR2	22866	broad.mit.edu	37	X	21627341	21627341	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:21627341C>A	ENST00000379510.3	+	20	2334	c.2298C>A	c.(2296-2298)cgC>cgA	p.R766R	CNKSR2_ENST00000425654.2_Silent_p.R736R|CNKSR2_ENST00000279451.4_Silent_p.R766R|CNKSR2_ENST00000543067.1_Silent_p.R717R	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	766					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTCAGCGCCGCTCCTGGCAGG	0.542																																							uc004czx.1		NA																	0				large_intestine(1)|lung(1)	2						c.(2296-2298)CGC>CGA		connector enhancer of kinase suppressor of Ras							95.0	94.0	94.0					X																	21627341		2203	4300	6503	SO:0001819	synonymous_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627341C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2298C>A	X.37:g.21627341C>A						CNKSR2_uc004czw.2_Silent_p.R766R|CNKSR2_uc011mjn.1_Silent_p.R717R|CNKSR2_uc011mjo.1_Silent_p.R736R|CNKSR2_uc004czy.2_Silent_p.R358R	p.R766R	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			20	2334	+			766					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	c.2298C>A	CCDS14198.1																																																																																				0.542	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		51	9	1	0	5.57489e-27	0.00361	1.06846e-26	51	9				
DMD	1756	broad.mit.edu	37	X	32827656	32827656	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:32827656G>T	ENST00000357033.4	-	7	809	c.603C>A	c.(601-603)aaC>aaA	p.N201K	DMD_ENST00000378677.2_Missense_Mutation_p.N197K|DMD_ENST00000288447.4_Missense_Mutation_p.N193K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	201	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTGGCGATGTTGAATGCAT	0.408																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(601-603)AAC>AAA		dystrophin Dp427m isoform							192.0	142.0	159.0					X																	32827656		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32827656G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.603C>A	X.37:g.32827656G>T	ENSP00000354923:p.Asn201Lys					DMD_uc004dcz.2_Missense_Mutation_p.N78K|DMD_uc004dcy.1_Missense_Mutation_p.N197K|DMD_uc004ddb.1_Missense_Mutation_p.N193K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.N193K|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	p.N201K	NM_004006	NP_003997	P11532	DMD_HUMAN			7	847	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	201			CH 2.|Actin-binding.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.603C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879450	0.51801	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.95001	-3.58;-3.58;-3.58	5.17	4.31	0.51392	Calponin homology domain (5);	0.000000	0.33916	U	0.004421	D	0.88422	0.6432	N	0.12422	0.21	0.80722	D	1	P;P;B;P	0.52061	0.95;0.736;0.249;0.777	B;B;B;B	0.43155	0.41;0.165;0.109;0.254	D	0.87913	0.2698	10	0.48119	T	0.1	.	12.7273	0.57178	0.083:0.0:0.917:0.0	.	193;193;201;197	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	193;197;201;201;78;193	ENSP00000367948:N197K;ENSP00000354923:N201K;ENSP00000288447:N193K	ENSP00000288447:N193K	N	-	3	2	DMD	32737577	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	3.050000	0.49877	0.951000	0.37770	0.422000	0.28245	AAC		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	4	1	0	0.000422831	0.004007	0.000455111	17	4				
DMD	1756	broad.mit.edu	37	X	32834669	32834669	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:32834669C>A	ENST00000357033.4	-	6	652	c.446G>T	c.(445-447)cGt>cTt	p.R149L	DMD_ENST00000378677.2_Missense_Mutation_p.R145L|DMD_ENST00000288447.4_Missense_Mutation_p.R141L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	149	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGATAATTACGAGTTGATTG	0.408																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(445-447)CGT>CTT		dystrophin Dp427m isoform							164.0	141.0	149.0					X																	32834669		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32834669C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.446G>T	X.37:g.32834669C>A	ENSP00000354923:p.Arg149Leu					DMD_uc004dcz.2_Missense_Mutation_p.R26L|DMD_uc004dcy.1_Missense_Mutation_p.R145L|DMD_uc004ddb.1_Missense_Mutation_p.R141L|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.R141L|DMD_uc010ngp.1_Missense_Mutation_p.R26L|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	p.R149L	NM_004006	NP_003997	P11532	DMD_HUMAN			6	690	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	149			CH 2.|Actin-binding.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.446G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708661	0.68615	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.94966	-3.57;-3.57;-3.57	5.51	5.51	0.81932	Calponin homology domain (5);	0.000000	0.38005	U	0.001842	D	0.95223	0.8451	M	0.72624	2.21	0.80722	D	1	P;D;P;P;P	0.53151	0.946;0.958;0.751;0.954;0.791	B;P;B;P;B	0.52343	0.34;0.633;0.124;0.696;0.196	D	0.94963	0.8110	10	0.52906	T	0.07	.	12.7324	0.57204	0.0:0.9197:0.0:0.0803	.	149;141;141;149;145	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	L	141;145;149;149;26;141	ENSP00000367948:R145L;ENSP00000354923:R149L;ENSP00000288447:R141L	ENSP00000288447:R141L	R	-	2	0	DMD	32744590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.560000	0.60802	2.300000	0.77407	0.600000	0.82982	CGT		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		38	14	1	0	6.05902e-23	0.003755	1.10333e-22	38	14				
FAM47A	158724	broad.mit.edu	37	X	34150258	34150258	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:34150258C>A	ENST00000346193.3	-	1	189	c.138G>T	c.(136-138)caG>caT	p.Q46H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	46										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATACCCAGTTCTGGGTGTCCA	0.572																																							uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(136-138)CAG>CAT		hypothetical protein LOC158724							70.0	67.0	68.0					X																	34150258		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150258C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.138G>T	X.37:g.34150258C>A	ENSP00000345029:p.Gln46His						p.Q46H	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	171	-			46					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.138G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513993	0.27123	.	.	ENSG00000185448	ENST00000346193	T	0.18810	2.19	1.36	0.452	0.16634	.	.	.	.	.	T	0.14570	0.0352	L	0.31664	0.95	0.09310	N	1	B	0.28055	0.199	B	0.33042	0.157	T	0.33650	-0.9860	9	0.72032	D	0.01	.	3.2963	0.06968	0.0:0.7044:0.0:0.2956	.	46	Q5JRC9	FA47A_HUMAN	H	46	ENSP00000345029:Q46H	ENSP00000345029:Q46H	Q	-	3	2	FAM47A	34060179	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.227000	0.09126	0.086000	0.17137	0.600000	0.82982	CAG		0.572	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		29	9	1	0	7.38237e-10	0.00632	9.69787e-10	29	9				
SRPX	8406	broad.mit.edu	37	X	38031232	38031232	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:38031232C>A	ENST00000378533.3	-	4	534	c.428G>T	c.(427-429)tGt>tTt	p.C143F	SRPX_ENST00000432886.2_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Missense_Mutation_p.C143F|SRPX_ENST00000343800.6_Missense_Mutation_p.C130F|SRPX_ENST00000544439.1_Missense_Mutation_p.C123F	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	143	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ATAATACTCACACCGGGAGTT	0.502																																							uc004ddy.1		NA																	0					0						c.(427-429)TGT>TTT		sushi-repeat-containing protein, X-linked							118.0	100.0	106.0					X																	38031232		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38031232C>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.428G>T	X.37:g.38031232C>A	ENSP00000367794:p.Cys143Phe					SRPX_uc004ddz.1_Missense_Mutation_p.C123F|SRPX_uc011mkh.1_Intron|SRPX_uc011mki.1_Missense_Mutation_p.C143F	p.C143F	NM_006307	NP_006298	P78539	SRPX_HUMAN			4	514	-			143			Sushi 2.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.428G>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650388	0.87958	.	.	ENSG00000101955	ENST00000544439;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.86	5.86	0.93980	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	D	0.86295	0.1676	10	0.87932	D	0	-11.1398	19.0499	0.93039	0.0:1.0:0.0:0.0	.	143;123;143	F5H4D7;G3V1L0;P78539	.;.;SRPX_HUMAN	F	123;143;143;130	ENSP00000440758:C123F;ENSP00000445034:C143F;ENSP00000367794:C143F;ENSP00000339211:C130F	ENSP00000339211:C130F	C	-	2	0	SRPX	37916176	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.451000	0.80668	2.447000	0.82792	0.600000	0.82982	TGT		0.502	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		19	1	1	0	1.56452e-12	0.007413	2.25723e-12	19	1				
GPR82	27197	broad.mit.edu	37	X	41586807	41586807	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:41586807C>A	ENST00000302548.4	+	3	768	c.528C>A	c.(526-528)gtC>gtA	p.V176V	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						ACTACTCAGTCATAGAGGCTA	0.428																																							uc004dfs.1		NA																	0				ovary(1)|pancreas(1)	2						c.(526-528)GTC>GTA		G protein-coupled receptor 82							77.0	71.0	73.0					X																	41586807		2203	4300	6503	SO:0001819	synonymous_variant	27197					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:41586807C>A	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"""GPCR / Class A : Orphans"""	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.528C>A	X.37:g.41586807C>A						CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Silent_p.V176V|GPR82_uc004dfu.1_RNA	p.V176V	NM_080817	NP_543007	Q96P67	GPR82_HUMAN			3	768	+			176			Helical; Name=4; (Potential).		Q5VT13	Silent	SNP	ENST00000302548.4	37	c.528C>A	CCDS14259.1																																																																																				0.428	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817		29	7	1	0	1.17739e-12	0.005443	1.70734e-12	29	7				
EFHC2	80258	broad.mit.edu	37	X	44107589	44107589	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:44107589C>G	ENST00000420999.1	-	7	1123	c.1040G>C	c.(1039-1041)tGg>tCg	p.W347S		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	347	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTTTCTTCCCCACACATTGAT	0.353																																							uc004dgb.3		NA																	0				breast(3)|ovary(2)|central_nervous_system(1)	6						c.(1039-1041)TGG>TCG		EF-hand domain (C-terminal) containing 2							52.0	44.0	46.0					X																	44107589		1853	4066	5919	SO:0001583	missense	80258						calcium ion binding	g.chrX:44107589C>G	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1040G>C	X.37:g.44107589C>G	ENSP00000404232:p.Trp347Ser						p.W347S	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN			8	1130	-			347			DM10 2.		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.1040G>C	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173353	0.57584	.	.	ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056	T;T	0.68624	-0.33;-0.34	5.59	5.59	0.84812	Uncharacterised domain DM10 (2);	0.000000	0.85682	D	0.000000	T	0.74558	0.3732	L	0.61387	1.9	0.80722	D	1	P	0.52842	0.956	P	0.51487	0.671	T	0.77281	-0.2646	10	0.62326	D	0.03	-11.8819	18.6045	0.91262	0.0:1.0:0.0:0.0	.	347	Q5JST6	EFHC2_HUMAN	S	347;375;151	ENSP00000333823:W347S;ENSP00000404232:W375S	ENSP00000333823:W347S	W	-	2	0	EFHC2	43992533	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	6.883000	0.75595	2.337000	0.79520	0.492000	0.49549	TGG		0.353	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		2	0	0	0	0	0.004672	0	2	0				
SYN1	6853	broad.mit.edu	37	X	47466569	47466569	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:47466569G>T	ENST00000295987.7	-	2	530	c.406C>A	c.(406-408)Cat>Aat	p.H136N	SYN1_ENST00000340666.4_Missense_Mutation_p.H136N	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	136	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						ATTTCTCCATGGATCTTTTTC	0.428																																							uc004die.2		NA																	0				ovary(1)	1						c.(406-408)CAT>AAT		synapsin I isoform Ia							213.0	178.0	190.0					X																	47466569		2203	4300	6503	SO:0001583	missense	6853					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	g.chrX:47466569G>T		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.406C>A	X.37:g.47466569G>T	ENSP00000295987:p.His136Asn					SYN1_uc004did.2_Missense_Mutation_p.H136N	p.H136N	NM_006950	NP_008881	P17600	SYN1_HUMAN			2	535	-			136			C; actin-binding and synaptic-vesicle binding.		B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	c.406C>A	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	G	7.385	0.629524	0.14257	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.30714	1.95;1.52	5.96	5.96	0.96718	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.17312	0.475	0.51767	D	0.999938	B;B	0.11235	0.004;0.003	B;B	0.17433	0.018;0.005	T	0.09335	-1.0679	10	0.13108	T	0.6	-12.2372	16.5798	0.84712	0.0:0.0:1.0:0.0	.	136;136	P17600;P17600-2	SYN1_HUMAN;.	N	136	ENSP00000295987:H136N;ENSP00000343206:H136N	ENSP00000295987:H136N	H	-	1	0	SYN1	47351513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.571000	0.60879	2.523000	0.85059	0.594000	0.82650	CAT		0.428	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		8	5	1	0	1.06961e-07	0.00308	1.31304e-07	8	5				
ZNF630	57232	broad.mit.edu	37	X	47920238	47920238	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:47920238C>G	ENST00000409324.3	-	3	328	c.102G>C	c.(100-102)agG>agC	p.R34S	ZNF630_ENST00000276054.4_5'UTR|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.R20S	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GCATCACATCCCTATGCAGGG	0.493																																							uc004div.3		NA																	0				ovary(1)|lung(1)	2						c.(100-102)AGG>AGC		zinc finger protein 630							81.0	62.0	68.0					X																	47920238		1557	3570	5127	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47920238C>G	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.102G>C	X.37:g.47920238C>G	ENSP00000386393:p.Arg34Ser					ZNF630_uc010nhz.1_RNA|ZNF630_uc004diw.2_5'UTR	p.R34S	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN			3	354	-			34			KRAB.		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.102G>C	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	15.29	2.789471	0.49997	.	.	ENSG00000221994	ENST00000442455;ENST00000409324;ENST00000428686	T;T;T	0.02656	4.21;4.21;4.21	2.17	1.28	0.21552	Krueppel-associated box (4);	.	.	.	.	T	0.07773	0.0195	M	0.92077	3.27	0.53688	D	0.999972	P	0.41569	0.755	B	0.43728	0.429	T	0.02966	-1.1088	9	0.72032	D	0.01	.	2.6493	0.04994	0.28:0.5422:0.0:0.1778	.	34	Q2M218	ZN630_HUMAN	S	20;34;34	ENSP00000393163:R20S;ENSP00000386393:R34S;ENSP00000407278:R34S	ENSP00000386393:R34S	R	-	3	2	ZNF630	47805182	0.012000	0.17670	0.061000	0.19648	0.272000	0.26649	0.209000	0.17435	0.199000	0.20427	0.468000	0.43344	AGG		0.493	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		11	3	0	0	0	0.008291	0	11	3				
PCSK1N	27344	broad.mit.edu	37	X	48689804	48689804	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:48689804G>A	ENST00000218230.5	-	3	749	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	PCSK1N_ENST00000478242.1_5'Flank	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN	proprotein convertase subtilisin/kexin type 1 inhibitor	217					neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)	endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)										CGGCGGAGGCGGCGCGGGGCT	0.726																																							uc004dkz.2		NA																	0					0						c.(649-651)CGC>TGC		proprotein convertase subtilisin/kexin type 1							4.0	4.0	4.0					X																	48689804		1956	3718	5674	SO:0001583	missense	27344				neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding	g.chrX:48689804G>A	AF181562	CCDS14307.1	Xp11.23	2008-07-28			ENSG00000102109	ENSG00000102109			17301	protein-coding gene	gene with protein product		300399				10632593	Standard	NM_013271		Approved	SAAS	uc004dkz.4	Q9UHG2	OTTHUMG00000034502	ENST00000218230.5:c.649C>T	X.37:g.48689804G>A	ENSP00000218230:p.Arg217Cys						p.R217C	NM_013271	NP_037403	Q9UHG2	PCSK1_HUMAN			3	675	-			217					Q4VC04	Missense_Mutation	SNP	ENST00000218230.5	37	c.649C>T	CCDS14307.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017141	0.54576	.	.	ENSG00000102109	ENST00000218230	T	0.58797	0.31	3.63	2.75	0.32379	.	0.000000	0.36101	N	0.002799	T	0.56232	0.1971	L	0.27053	0.805	0.09310	N	0.999996	D	0.89917	1.0	D	0.66979	0.948	T	0.40459	-0.9562	10	0.87932	D	0	11.2867	5.4141	0.16363	0.1565:0.0:0.8435:0.0	.	217	Q9UHG2	PCSK1_HUMAN	C	217	ENSP00000218230:R217C	ENSP00000218230:R217C	R	-	1	0	PCSK1N	48574748	1.000000	0.71417	0.743000	0.31040	0.702000	0.40608	2.655000	0.46707	1.799000	0.52666	0.499000	0.49734	CGC		0.726	PCSK1N-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083444.1	NM_013271		3	4	0	0	0	0.004672	0	3	4				
AKAP4	8852	broad.mit.edu	37	X	49955701	49955701	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:49955701G>T	ENST00000376056.2	-	6	2590	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	AKAP4_ENST00000376064.3_Missense_Mutation_p.Q814K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.Q440K|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q823K					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATGACCTCTTGAAGAAGACCT	0.512																																							uc004dow.1		NA																	0				kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(2467-2469)CAA>AAA		A-kinase anchor protein 4 isoform 1							241.0	193.0	209.0					X																	49955701		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49955701G>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2440C>A	X.37:g.49955701G>T	ENSP00000365224:p.Gln814Lys					AKAP4_uc004dov.1_Missense_Mutation_p.Q440K|AKAP4_uc010njp.1_Missense_Mutation_p.Q645K|AKAP4_uc004dou.1_Missense_Mutation_p.Q814K	p.Q823K	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			6	2591	-	Ovarian(276;0.236)		823						Missense_Mutation	SNP	ENST00000376056.2	37	c.2467C>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815851	0.70912	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.61	4.61	0.57282	A-kinase anchor 110kDa, C-terminal (1);	0.128596	0.35179	N	0.003397	T	0.28167	0.0695	M	0.74881	2.28	0.30194	N	0.799245	B;D	0.61697	0.393;0.99	B;P	0.61722	0.187;0.893	T	0.11518	-1.0584	9	.	.	.	-4.0566	12.1349	0.53966	0.0:0.0:1.0:0.0	.	823;440	Q5JQC9;A6ND82	AKAP4_HUMAN;.	K	814;440;823;814	ENSP00000365224:Q814K;ENSP00000365226:Q440K;ENSP00000351327:Q823K;ENSP00000365232:Q814K	.	Q	-	1	0	AKAP4	49842441	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.356000	0.66052	1.907000	0.55213	0.523000	0.50628	CAA		0.512	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		43	12	1	0	3.61848e-18	0.007835	6.08349e-18	43	12				
ITIH6	347365	broad.mit.edu	37	X	54777568	54777568	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:54777568G>C	ENST00000218436.6	-	12	3627	c.3598C>G	c.(3598-3600)Cgc>Ggc	p.R1200G		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1200					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGCCCAAGGCGGAGGGTAAGG	0.642																																							uc004dtj.2		NA																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(3598-3600)CGC>GGC		inter-alpha (globulin) inhibitor H5-like							42.0	34.0	37.0					X																	54777568		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54777568G>C	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.3598C>G	X.37:g.54777568G>C	ENSP00000218436:p.Arg1200Gly						p.R1200G	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			12	3628	-			1200					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3598C>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	8.537	0.872475	0.17322	.	.	ENSG00000102313	ENST00000218436	T	0.10860	2.83	3.41	1.49	0.22878	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.684405	0.13529	U	0.381096	T	0.06280	0.0162	N	0.19112	0.55	0.22521	N	0.99903	B	0.33748	0.423	B	0.35413	0.202	T	0.41770	-0.9490	10	0.19590	T	0.45	.	5.8565	0.18722	0.4053:0.0:0.5947:0.0	.	1200	Q6UXX5	ITH5L_HUMAN	G	1200	ENSP00000218436:R1200G	ENSP00000218436:R1200G	R	-	1	0	ITIH5L	54794293	0.002000	0.14202	0.333000	0.25482	0.795000	0.44927	0.209000	0.17435	0.272000	0.22027	0.287000	0.19450	CGC		0.642	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		6	3	0	0	0	0.001168	0	6	3				
MAGED2	10916	broad.mit.edu	37	X	54838685	54838685	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:54838685G>T	ENST00000375068.1	+	7	1318		c.e7+1		MAGED2_ENST00000375053.2_Splice_Site|MAGED2_ENST00000218439.4_Splice_Site|MAGED2_ENST00000347546.4_Splice_Site|MAGED2_ENST00000375060.1_Splice_Site|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375062.4_Splice_Site|MAGED2_ENST00000375058.1_Splice_Site|MAGED2_ENST00000396224.1_Splice_Site			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2							membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TACTGGGAACGTAAGCTGGGA	0.493																																							uc004dtk.1		NA																	0				ovary(2)|breast(1)	3						c.e7+1		melanoma antigen family D, 2							44.0	37.0	39.0					X																	54838685		2203	4300	6503	SO:0001630	splice_region_variant	10916							g.chrX:54838685G>T	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1085+1G>T	X.37:g.54838685G>T						MAGED2_uc004dtl.1_Splice_Site_p.T362_splice|MAGED2_uc004dtm.1_Splice_Site_p.T277_splice|MAGED2_uc010nkc.1_Splice_Site_p.T362_splice|MAGED2_uc004dtn.1_Splice_Site_p.T362_splice|MAGED2_uc004dto.1_Splice_Site_p.T336_splice|SNORA11_uc004dtp.1_5'Flank	p.T362_splice	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN			7	1179	+								A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Splice_Site	SNP	ENST00000375068.1	37	c.1085_splice	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910554	0.33721	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	.	.	.	3.67	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3207	0.54983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAGED2	54855410	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	6.728000	0.74769	1.775000	0.52247	0.506000	0.49869	.		0.493	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599	Intron	11	4	1	0	1.58986e-06	0.008291	1.87881e-06	11	4				
TRO	7216	broad.mit.edu	37	X	54954192	54954192	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:54954192A>G	ENST00000173898.7	+	11	1968	c.1856A>G	c.(1855-1857)aAa>aGa	p.K619R	TRO_ENST00000399736.1_Missense_Mutation_p.K222R|TRO_ENST00000420798.2_Missense_Mutation_p.K150R|TRO_ENST00000375022.4_Missense_Mutation_p.K619R|TRO_ENST00000319167.8_Missense_Mutation_p.K619R|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Missense_Mutation_p.K222R	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	619	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGCAAGATGAAAGTCCTCAAG	0.527																																							uc004dtq.2		NA																	0				ovary(1)	1						c.(1855-1857)AAA>AGA		trophinin isoform 5							60.0	57.0	58.0					X																	54954192		2200	4299	6499	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54954192A>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1856A>G	X.37:g.54954192A>G	ENSP00000173898:p.Lys619Arg					TRO_uc004dts.2_Missense_Mutation_p.K619R|TRO_uc004dtr.2_Missense_Mutation_p.K619R|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.K222R|TRO_uc011mok.1_Missense_Mutation_p.K150R|TRO_uc004dtw.2_Missense_Mutation_p.K222R|TRO_uc004dtx.2_Missense_Mutation_p.K2R	p.K619R	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			11	1963	+			619			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1856A>G	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.918637	0.52546	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35	3.1	1.88	0.25563	.	.	.	.	.	T	0.13884	0.0336	L	0.50919	1.6	0.31850	N	0.622295	D;B;P;D	0.65815	0.991;0.329;0.592;0.995	P;B;P;D	0.64042	0.862;0.147;0.627;0.921	T	0.10405	-1.0631	9	0.51188	T	0.08	.	6.1184	0.20139	0.7702:0.0:0.0:0.2298	.	222;222;619;619	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	R	619;619;619;222;222;150;222	ENSP00000173898:K619R;ENSP00000318278:K619R;ENSP00000364162:K619R;ENSP00000382641:K222R;ENSP00000405126:K150R;ENSP00000364181:K222R	ENSP00000173898:K619R	K	+	2	0	TRO	54970917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.146000	0.58072	0.396000	0.25283	0.417000	0.27973	AAA		0.527	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		14	3	0	0	0	0.00245	0	14	3				
USP51	158880	broad.mit.edu	37	X	55513782	55513782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:55513782C>A	ENST00000500968.3	-	2	1673	c.1591G>T	c.(1591-1593)Gag>Tag	p.E531*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	531	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCAGCCCTCTCTGGGTTCTGG	0.522																																							uc004dun.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1591-1593)GAG>TAG		ubiquitin specific protease 51							89.0	68.0	75.0					X																	55513782		2203	4300	6503	SO:0001587	stop_gained	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513782C>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1591G>T	X.37:g.55513782C>A	ENSP00000423333:p.Glu531*					USP51_uc011moo.1_Nonsense_Mutation_p.E235*	p.E531*	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	1670	-			531					Q8IWJ8	Nonsense_Mutation	SNP	ENST00000500968.3	37	c.1591G>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.414299	0.83449	.	.	ENSG00000247746	ENST00000500968	.	.	.	3.04	2.17	0.27698	.	0.262003	0.36234	U	0.002703	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	7.5345	0.27702	0.0:0.8594:0.0:0.1406	.	.	.	.	X	531	.	ENSP00000423333:E531X	E	-	1	0	USP51	55530507	0.398000	0.25279	0.029000	0.17559	0.559000	0.35586	2.779000	0.47734	0.685000	0.31468	0.508000	0.49915	GAG		0.522	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		14	4	1	0	4.3838e-07	0.001855	5.25466e-07	14	4				
AMER1	139285	broad.mit.edu	37	X	63412928	63412928	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:63412928C>A	ENST00000330258.3	-	2	511	c.239G>T	c.(238-240)gGt>gTt	p.G80V	AMER1_ENST00000403336.1_Missense_Mutation_p.G80V|AMER1_ENST00000374869.3_Missense_Mutation_p.G80V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	80					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TTTCCCAGAACCTTTGCTCCG	0.532																																							uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(238-240)GGT>GTT		family with sequence similarity 123B							129.0	99.0	109.0					X																	63412928		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412928C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.239G>T	X.37:g.63412928C>A	ENSP00000329117:p.Gly80Val						p.G80V	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	512	-			80					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.239G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664300	0.47572	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.59224	0.28;0.3;0.28	4.59	3.73	0.42828	.	0.305675	0.36740	N	0.002440	T	0.57917	0.2086	M	0.67397	2.05	0.54753	D	0.999982	P	0.50066	0.931	P	0.44732	0.459	T	0.64326	-0.6434	10	0.87932	D	0	-0.7576	11.3281	0.49460	0.0:0.9067:0.0:0.0933	.	80	Q5JTC6	F123B_HUMAN	V	80	ENSP00000364003:G80V;ENSP00000329117:G80V;ENSP00000384722:G80V	ENSP00000329117:G80V	G	-	2	0	FAM123B	63329653	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	2.586000	0.46119	1.282000	0.44496	-0.192000	0.12808	GGT		0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		29	5	1	0	3.73988e-18	0.00632	6.2654e-18	29	5				
HEPH	9843	broad.mit.edu	37	X	65411974	65411974	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:65411974G>A	ENST00000343002.2	+	6	1730	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S	HEPH_ENST00000374727.3_Missense_Mutation_p.G359S|HEPH_ENST00000419594.1_Missense_Mutation_p.G359S|HEPH_ENST00000336279.5_Missense_Mutation_p.G89S|HEPH_ENST00000441993.2_Missense_Mutation_p.G359S|HEPH_ENST00000519389.1_Missense_Mutation_p.G410S			Q9BQS7	HEPH_HUMAN	hephaestin	356	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCTTCAGATGGCATGCAGGC	0.502																																							uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(1075-1077)GGC>AGC		hephaestin isoform a							105.0	84.0	91.0					X																	65411974		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65411974G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1066G>A	X.37:g.65411974G>A	ENSP00000343939:p.Gly356Ser					HEPH_uc004dwn.2_Missense_Mutation_p.G359S|HEPH_uc004dwo.2_Missense_Mutation_p.G89S|HEPH_uc010nkr.2_Missense_Mutation_p.G359S|HEPH_uc011mpa.1_Missense_Mutation_p.G359S	p.G359S	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			7	1135	+			356			Extracellular (Potential).|Plastocyanin-like 2.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1075G>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.995362	0.93167	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99981	-10.33;-10.33;-10.33;-10.33;-10.33;-10.33;-10.33	5.3	5.3	0.74995	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	M	0.91300	3.195	0.58432	D	0.999994	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.91635	0.953;0.999;0.991	D	0.96317	0.9233	10	0.62326	D	0.03	.	16.513	0.84292	0.0:0.0:1.0:0.0	.	410;359;356	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	S	410;359;89;359;359;356;356	ENSP00000430620:G410S;ENSP00000363859:G359S;ENSP00000337418:G89S;ENSP00000411687:G359S;ENSP00000413211:G359S;ENSP00000343939:G356S;ENSP00000398078:G356S	ENSP00000337418:G89S	G	+	1	0	HEPH	65328699	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	8.167000	0.89668	2.212000	0.71576	0.529000	0.55759	GGC		0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		18	8	0	0	0	0.007413	0	18	8				
HEPH	9843	broad.mit.edu	37	X	65480040	65480040	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:65480040C>A	ENST00000343002.2	+	18	3799	c.3135C>A	c.(3133-3135)caC>caA	p.H1045Q	HEPH_ENST00000374727.3_Missense_Mutation_p.H1048Q|HEPH_ENST00000419594.1_Missense_Mutation_p.H856Q|HEPH_ENST00000336279.5_Missense_Mutation_p.H778Q|HEPH_ENST00000441993.2_Missense_Mutation_p.H1048Q|HEPH_ENST00000519389.1_Missense_Mutation_p.H1099Q			Q9BQS7	HEPH_HUMAN	hephaestin	1045	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCTGATGCACTGCCATGTGA	0.507																																							uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(3142-3144)CAC>CAA		hephaestin isoform a							121.0	94.0	103.0					X																	65480040		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65480040C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3135C>A	X.37:g.65480040C>A	ENSP00000343939:p.His1045Gln					HEPH_uc004dwn.2_Missense_Mutation_p.H1048Q|HEPH_uc004dwo.2_Missense_Mutation_p.H778Q|HEPH_uc010nkr.2_Missense_Mutation_p.H856Q|HEPH_uc011mpa.1_Missense_Mutation_p.H1048Q	p.H1048Q	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			19	3204	+			1045			Extracellular (Potential).|Plastocyanin-like 6.	Copper 3; type 3 (By similarity).	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3144C>A		.	.	.	.	.	.	.	.	.	.	C	19.98	3.926146	0.73327	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99902	-7.66;-7.66;-7.66;-7.66;-7.66;-7.66	4.81	3.03	0.35002	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.89478	3.035	0.38128	D	0.938077	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.97524	1.0075	10	0.51188	T	0.08	.	9.0034	0.36097	0.0:0.8128:0.0:0.1872	.	1099;856;1045	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	Q	1099;1048;778;1048;856;1045	ENSP00000430620:H1099Q;ENSP00000363859:H1048Q;ENSP00000337418:H778Q;ENSP00000411687:H1048Q;ENSP00000413211:H856Q;ENSP00000343939:H1045Q	ENSP00000337418:H778Q	H	+	3	2	HEPH	65396765	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	0.931000	0.28871	0.445000	0.26639	0.600000	0.82982	CAC		0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		32	2	1	0	1.06801e-11	0.009535	1.50579e-11	32	2				
OTUD6A	139562	broad.mit.edu	37	X	69282386	69282386	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:69282386G>T	ENST00000338352.2	+	1	46	c.12G>T	c.(10-12)ccG>ccT	p.P4P		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	4					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TGGATGATCCGAAGAGTGAAC	0.557																																							uc004dxu.1		NA																	0				lung(1)|skin(1)	2						c.(10-12)CCG>CCT		OTU domain containing 6A							20.0	19.0	19.0					X																	69282386		2203	4299	6502	SO:0001819	synonymous_variant	139562							g.chrX:69282386G>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.12G>T	X.37:g.69282386G>T							p.P4P	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			1	46	+			4					B2RPB7	Silent	SNP	ENST00000338352.2	37	c.12G>T	CCDS14395.1																																																																																				0.557	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		7	6	1	0	0.000274275	0.004482	0.000296559	7	6				
MED12	9968	broad.mit.edu	37	X	70341558	70341558	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70341558C>A	ENST00000374080.3	+	7	1025	c.993C>A	c.(991-993)acC>acA	p.T331T	MED12_ENST00000333646.6_Silent_p.T331T|MED12_ENST00000374102.1_Silent_p.T331T			Q93074	MED12_HUMAN	mediator complex subunit 12	331					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACCCACCACCCCTGCTCCTC	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(991-993)ACC>ACA		mediator complex subunit 12							91.0	98.0	95.0					X																	70341558		2144	4225	6369	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70341558C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.993C>A	X.37:g.70341558C>A						MED12_uc011mpq.1_Silent_p.T331T|MED12_uc004dyz.2_Silent_p.T331T|MED12_uc004dza.2_Silent_p.T178T	p.T331T	NM_005120	NP_005111	Q93074	MED12_HUMAN			7	1192	+	Renal(35;0.156)		331					O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.993C>A	CCDS43970.1																																																																																				0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		36	26	1	0	6.84511e-11	0.003271	9.38156e-11	36	26				
MED12	9968	broad.mit.edu	37	X	70352234	70352234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70352234G>T	ENST00000374080.3	+	31	4293	c.4261G>T	c.(4261-4263)Gag>Tag	p.E1421*	MED12_ENST00000333646.6_Nonsense_Mutation_p.E1421*|MED12_ENST00000374102.1_Nonsense_Mutation_p.E1421*			Q93074	MED12_HUMAN	mediator complex subunit 12	1421					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGCTCTCTAGAGCGCTCTGG	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(4261-4263)GAG>TAG		mediator complex subunit 12							64.0	59.0	61.0					X																	70352234		2014	4172	6186	SO:0001587	stop_gained	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70352234G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4261G>T	X.37:g.70352234G>T	ENSP00000363193:p.Glu1421*					MED12_uc011mpq.1_Nonsense_Mutation_p.E1421*|MED12_uc004dyz.2_Nonsense_Mutation_p.E1421*|MED12_uc004dza.2_Nonsense_Mutation_p.E1268*|MED12_uc010nla.2_Nonsense_Mutation_p.E47*	p.E1421*	NM_005120	NP_005111	Q93074	MED12_HUMAN			31	4460	+	Renal(35;0.156)		1421					O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	ENST00000374080.3	37	c.4261G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	45	11.281012	0.99541	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-21.873	16.9533	0.86251	0.0:0.0:1.0:0.0	.	.	.	.	X	1421;1421;1421;1421;1389;166	.	ENSP00000333125:E1421X	E	+	1	0	MED12	70268959	1.000000	0.71417	0.973000	0.42090	0.822000	0.46500	8.947000	0.93000	2.267000	0.75376	0.523000	0.50628	GAG		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		13	21	1	0	4.36969e-10	0.001855	5.78294e-10	13	21				
MED12	9968	broad.mit.edu	37	X	70352315	70352315	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70352315G>T	ENST00000374080.3	+	31	4374	c.4342G>T	c.(4342-4344)Ggg>Tgg	p.G1448W	MED12_ENST00000333646.6_Missense_Mutation_p.G1448W|MED12_ENST00000374102.1_Missense_Mutation_p.G1448W			Q93074	MED12_HUMAN	mediator complex subunit 12	1448					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AAAGGCTGCTGGGGAAGAATT	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(4342-4344)GGG>TGG		mediator complex subunit 12							63.0	58.0	60.0					X																	70352315		1935	4129	6064	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70352315G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4342G>T	X.37:g.70352315G>T	ENSP00000363193:p.Gly1448Trp					MED12_uc011mpq.1_Missense_Mutation_p.G1448W|MED12_uc004dyz.2_Missense_Mutation_p.G1448W|MED12_uc004dza.2_Missense_Mutation_p.G1295W|MED12_uc010nla.2_Missense_Mutation_p.G74W	p.G1448W	NM_005120	NP_005111	Q93074	MED12_HUMAN			31	4541	+	Renal(35;0.156)		1448					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4342G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290311	0.80914	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.987;0.993;0.997;0.991	T	0.71140	-0.4679	10	0.87932	D	0	-14.5784	16.6815	0.85292	0.0:0.0:1.0:0.0	.	1448;1295;1448;1448	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	W	1448;1448;1448;1448;1416;193	ENSP00000333125:G1448W;ENSP00000363215:G1448W;ENSP00000363193:G1448W;ENSP00000414203:G1416W;ENSP00000408388:G193W	ENSP00000333125:G1448W	G	+	1	0	MED12	70269040	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.947000	0.93000	2.199000	0.70637	0.523000	0.50628	GGG		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	9	1	0	2.17888e-05	0.006214	2.46835e-05	9	9				
NONO	4841	broad.mit.edu	37	X	70517785	70517786	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70517785_70517786TG>AT	ENST00000276079.8	+	9	1333_1334	c.1128_1129TG>AT	c.(1126-1131)gaTGcg>gaATcg	p.376_377DA>ES	NONO_ENST00000373856.3_Missense_Mutation_p.376_377DA>ES|NONO_ENST00000535149.1_Missense_Mutation_p.287_288DA>ES|NONO_ENST00000373841.1_Missense_Mutation_p.376_377DA>ES|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	376		Breakpoint for translocation to form NONO-TFE3.			circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCTTCCCTGATGCGGTATATCT	0.53			T	TFE3	papillary renal cancer																																		uc004dzo.2		NA		Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				ovary(2)|kidney(2)	4						c.(1126-1131)GATGCG>GAATCG		non-POU domain containing, octamer-binding																																				SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70517785_70517786TG>AT	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	Exception_encountered	X.37:g.70517785_70517786delinsAT	ENSP00000276079:p.D376_A377delinsES					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.376_377DA>ES|NONO_uc004dzp.2_Missense_Mutation_p.376_377DA>ES|NONO_uc011mpv.1_Missense_Mutation_p.287_288DA>ES|NONO_uc004dzq.2_Missense_Mutation_p.245_246DA>ES	p.376_377DA>ES	NM_001145408	NP_001138880	Q15233	NONO_HUMAN			10	1838_1839	+	Renal(35;0.156)		376_377				Breakpoint for translocation to form NONO-TFE3.	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	DNP	ENST00000276079.8	37	c.1128_1129TG>AT	CCDS14410.1																																																																																				0.530	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		5	15	0	0	0	0.004672	0	5	15				
OGT	8473	broad.mit.edu	37	X	70784509	70784509	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:70784509G>T	ENST00000373719.3	+	19	2712	c.2495G>T	c.(2494-2496)cGt>cTt	p.R832L	OGT_ENST00000373701.3_Missense_Mutation_p.R822L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	832					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTAACCACCCGTTCTCAGTAC	0.398																																							uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2494-2496)CGT>CTT		O-linked GlcNAc transferase isoform 1							126.0	102.0	110.0					X																	70784509		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70784509G>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2495G>T	X.37:g.70784509G>T	ENSP00000362824:p.Arg832Leu					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.R822L|OGT_uc004eac.2_Missense_Mutation_p.R693L|OGT_uc004ead.2_Missense_Mutation_p.R451L	p.R832L	NM_181672	NP_858058	O15294	OGT1_HUMAN			19	2712	+	Renal(35;0.156)		832					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.2495G>T	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929500	0.52759	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.16457	2.34;2.34	5.24	4.38	0.52667	.	0.057379	0.85682	D	0.000000	T	0.56702	0.2003	H	0.97707	4.06	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.771	D;D;P	0.83275	0.996;0.995;0.508	T	0.72590	-0.4247	10	0.87932	D	0	.	13.5229	0.61578	0.0777:0.0:0.9223:0.0	.	706;822;832	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	L	832;822	ENSP00000362824:R832L;ENSP00000362805:R822L	ENSP00000362805:R822L	R	+	2	0	OGT	70701234	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	9.778000	0.99011	1.114000	0.41781	-0.208000	0.12717	CGT		0.398	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		33	18	1	0	2.61193e-14	0.009535	3.9568e-14	33	18				
NHSL2	340527	broad.mit.edu	37	X	71360077	71360077	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:71360077G>T	ENST00000373677.1	+	2	2843	c.1581G>T	c.(1579-1581)gaG>gaT	p.E527D	NHSL2_ENST00000540800.1_Missense_Mutation_p.E893D|NHSL2_ENST00000510661.1_Missense_Mutation_p.E662D|NHSL2_ENST00000535692.1_Missense_Mutation_p.E527D			Q5HYW2	NHSL2_HUMAN	NHS-like 2	527										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CTGTTCCTGAGGAGTATGCAC	0.557																																							uc011mqa.1		NA																	0					0						c.(2677-2679)GAG>GAT		NHS-like 2							91.0	71.0	78.0					X																	71360077		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360077G>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1581G>T	X.37:g.71360077G>T	ENSP00000362781:p.Glu527Asp					NHSL2_uc004eak.1_Missense_Mutation_p.E527D|NHSL2_uc010nli.2_Missense_Mutation_p.E662D	p.E893D	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN			6	2679	+	Renal(35;0.156)		893					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.2679G>T		.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156764	0.01686	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.48201	1.44;0.84;0.82;0.84	5.65	4.65	0.58169	.	0.624103	0.16032	N	0.232791	T	0.36580	0.0972	L	0.36672	1.1	0.09310	N	0.999999	B;P;B	0.38504	0.287;0.634;0.403	B;B;B	0.36845	0.116;0.234;0.172	T	0.15867	-1.0422	10	0.38643	T	0.18	-3.1117	9.1913	0.37200	0.1327:0.0:0.8673:0.0	.	893;662;527	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	D	893;527;662;527	ENSP00000444617:E893D;ENSP00000362781:E527D;ENSP00000424079:E662D;ENSP00000444914:E527D	ENSP00000362781:E527D	E	+	3	2	NHSL2	71276802	1.000000	0.71417	0.121000	0.21740	0.019000	0.09904	1.967000	0.40491	1.104000	0.41587	0.600000	0.82982	GAG		0.557	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		7	75	1	0	5.18039e-06	0.00308	6.01703e-06	7	75				
CDX4	1046	broad.mit.edu	37	X	72673480	72673480	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:72673480G>T	ENST00000373514.2	+	2	630	c.630G>T	c.(628-630)ctG>ctT	p.L210L		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	210					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CAGTTAACCTGGGCCTTTCCG	0.398																																							uc011mqk.1		NA																	0					0						c.(628-630)CTG>CTT		caudal type homeobox 4							70.0	59.0	62.0					X																	72673480		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72673480G>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.630G>T	X.37:g.72673480G>T							p.L210L	NM_005193	NP_005184	O14627	CDX4_HUMAN			2	630	+	Renal(35;0.156)		210			Homeobox.		A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.630G>T	CCDS14424.1																																																																																				0.398	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		20	12	1	0	1.01871e-10	0.008871	1.38951e-10	20	12				
RLIM	51132	broad.mit.edu	37	X	73811407	73811407	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:73811407G>T	ENST00000332687.6	-	4	1961	c.1743C>A	c.(1741-1743)aaC>aaA	p.N581K	RLIM_ENST00000349225.2_Missense_Mutation_p.N581K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	581					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACGAAGTTTGTTGCCTTCTG	0.403																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NA																	0				ovary(2)	2						c.(1741-1743)AAC>AAA		ring finger protein, LIM domain interacting							135.0	105.0	115.0					X																	73811407		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811407G>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1743C>A	X.37:g.73811407G>T	ENSP00000328059:p.Asn581Lys					RLIM_uc004ebw.2_Missense_Mutation_p.N581K	p.N581K	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	2033	-			581			RING-type.		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1743C>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468195	0.63625	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.40756	1.02;1.02	5.41	5.41	0.78517	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.042977	0.85682	D	0.000000	T	0.48447	0.1500	N	0.11201	0.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60444	-0.7262	10	0.87932	D	0	-10.1487	18.3592	0.90370	0.0:0.0:1.0:0.0	.	581	Q9NVW2	RNF12_HUMAN	K	581	ENSP00000328059:N581K;ENSP00000253571:N581K	ENSP00000328059:N581K	N	-	3	2	RLIM	73728132	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.578000	0.82498	2.275000	0.75901	0.600000	0.82982	AAC		0.403	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		27	36	1	0	6.04164e-23	0.002096	1.10299e-22	27	36				
KIAA2022	340533	broad.mit.edu	37	X	73963343	73963343	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:73963343G>T	ENST00000055682.6	-	3	1660	c.1049C>A	c.(1048-1050)tCt>tAt	p.S350Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	350					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)			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						CCCACTCTTAGACTCTCGCTT	0.468																																							uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1048-1050)TCT>TAT		hypothetical protein LOC340533							57.0	53.0	54.0					X																	73963343		2203	4299	6502	SO:0001583	missense	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:73963343G>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.1049C>A	X.37:g.73963343G>T	ENSP00000055682:p.Ser350Tyr						p.S350Y	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1666	-			350					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1049C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	7.713	0.695553	0.15106	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33216	1.42;1.42	5.93	5.06	0.68205	.	1.646050	0.02965	N	0.143590	T	0.38321	0.1036	L	0.47716	1.5	0.39915	D	0.974086	P	0.51351	0.944	P	0.47981	0.563	T	0.46830	-0.9163	10	0.87932	D	0	-2.5653	6.691	0.23171	0.0941:0.1767:0.7292:0.0	.	350	Q5QGS0	K2022_HUMAN	Y	350	ENSP00000362567:S350Y;ENSP00000055682:S350Y	ENSP00000055682:S350Y	S	-	2	0	KIAA2022	73880068	1.000000	0.71417	0.998000	0.56505	0.380000	0.30137	1.940000	0.40223	2.510000	0.84645	0.600000	0.82982	TCT		0.468	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		57	40	1	0	2.17126e-26	0.00361	4.117e-26	57	40				
MAGEE2	139599	broad.mit.edu	37	X	75003851	75003851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:75003851C>A	ENST00000373359.2	-	1	1228	c.1036G>T	c.(1036-1038)Gag>Tag	p.E346*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	346	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACACATCCTCAAATTCTTTG	0.418																																							uc004ecj.1		NA																	0				ovary(1)|skin(1)	2						c.(1036-1038)GAG>TAG		melanoma antigen family E, 2							87.0	73.0	78.0					X																	75003851		2203	4300	6503	SO:0001587	stop_gained	139599							g.chrX:75003851C>A	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1036G>T	X.37:g.75003851C>A	ENSP00000362457:p.Glu346*						p.E346*	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1221	-			346			MAGE 2.		Q5JSI5	Nonsense_Mutation	SNP	ENST00000373359.2	37	c.1036G>T	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010178	0.93346	.	.	ENSG00000186675	ENST00000373359	.	.	.	2.76	0.911	0.19343	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5604	0.07880	0.0:0.5801:0.2584:0.1614	.	.	.	.	X	346	.	ENSP00000362457:E346X	E	-	1	0	MAGEE2	74920576	0.995000	0.38212	0.370000	0.25965	0.958000	0.62258	0.367000	0.20382	0.105000	0.17753	0.422000	0.28245	GAG		0.418	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		43	35	1	0	8.16277e-20	0.006999	1.421e-19	43	35				
MAGEE1	57692	broad.mit.edu	37	X	75650314	75650314	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:75650314C>A	ENST00000361470.2	+	1	2269	c.1991C>A	c.(1990-1992)aCc>aAc	p.T664N		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	664	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.		T -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.T664N(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTAGAAACCACCAAGATGAAA	0.433																																							uc004ecm.1		NA																	1	Substitution - Missense(1)	p.T664N(1)	breast(1)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(1990-1992)ACC>AAC		melanoma antigen family E, 1							39.0	37.0	38.0					X																	75650314		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650314C>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1991C>A	X.37:g.75650314C>A	ENSP00000354912:p.Thr664Asn						p.T664N	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	2198	+			664		T -> N (in a breast cancer sample; somatic mutation).	MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1991C>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	5.495	0.276347	0.10403	.	.	ENSG00000198934	ENST00000361470	T	0.05081	3.5	2.34	-2.27	0.06846	.	.	.	.	.	T	0.10551	0.0258	L	0.53729	1.69	0.09310	N	1	P	0.40000	0.698	P	0.49085	0.6	T	0.21280	-1.0250	9	0.72032	D	0.01	.	6.0574	0.19819	0.0:0.2679:0.5856:0.1465	.	664	Q9HCI5	MAGE1_HUMAN	N	664	ENSP00000354912:T664N	ENSP00000354912:T664N	T	+	2	0	MAGEE1	75566718	0.989000	0.36119	0.161000	0.22692	0.047000	0.14425	0.044000	0.13992	-0.812000	0.04363	-0.225000	0.12378	ACC		0.433	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		16	14	1	0	5.3912e-06	0.006122	6.23645e-06	16	14				
ATRX	546	broad.mit.edu	37	X	76938803	76938803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:76938803C>A	ENST00000373344.5	-	9	2159	c.1945G>T	c.(1945-1947)Gag>Tag	p.E649*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E611*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	649					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAGATTCCTCTAAAAGTAAT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(1945-1947)GAG>TAG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						133.0	144.0	140.0					X																	76938803		2203	4293	6496	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938803C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1945G>T	X.37:g.76938803C>A	ENSP00000362441:p.Glu649*					ATRX_uc004ecq.3_Nonsense_Mutation_p.E611*|ATRX_uc004eco.3_Nonsense_Mutation_p.E434*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E581*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E620*|ATRX_uc010nly.1_Nonsense_Mutation_p.E594*	p.E649*	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2177	-			649					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1945G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	40	8.436527	0.98810	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.13	5.13	0.70059	.	0.168880	0.45606	D	0.000345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.1972	17.7618	0.88466	0.0:1.0:0.0:0.0	.	.	.	.	X	649;611;576	.	ENSP00000362441:E649X	E	-	1	0	ATRX	76825459	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	4.911000	0.63328	2.125000	0.65367	0.513000	0.50165	GAG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		199	142	1	0	2.00895e-71	0.00361	4.34103e-71	199	142				
MAGT1	84061	broad.mit.edu	37	X	77109424	77109424	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77109424G>A	ENST00000358075.6	-	7	982	c.896C>T	c.(895-897)gCt>gTt	p.A299V		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	267					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGTGTTTCAGCTACAAACTG	0.348																																							uc004fof.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(895-897)GCT>GTT		magnesium transporter 1							138.0	122.0	127.0					X																	77109424		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77109424G>A		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.896C>T	X.37:g.77109424G>A	ENSP00000354649:p.Ala299Val					MAGT1_uc004fog.3_Intron	p.A299V	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			7	958	-			267					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000358075.6	37	c.896C>T	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050408	0.55218	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	T	0.77750	-1.12	5.01	4.13	0.48395	.	0.059366	0.64402	U	0.000003	T	0.66406	0.2786	L	0.31371	0.925	0.80722	D	1	B	0.24368	0.102	B	0.30495	0.116	T	0.60414	-0.7268	10	0.18276	T	0.48	-10.1148	11.999	0.53220	0.088:0.0:0.912:0.0	.	267	Q9H0U3	MAGT1_HUMAN	V	299;150	ENSP00000354649:A299V	ENSP00000354649:A299V	A	-	2	0	MAGT1	76996080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.205000	0.71048	0.600000	0.82982	GCT		0.348	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		76	54	0	0	0	0.00361	0	76	54				
ATP7A	538	broad.mit.edu	37	X	77267028	77267028	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77267028C>A	ENST00000341514.6	+	9	2184	c.2029C>A	c.(2029-2031)Cac>Aac	p.H677N	ATP7A_ENST00000343533.5_Missense_Mutation_p.H677N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	677					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TATGGACCACCACTTTGCAAC	0.378																																							uc004ecx.3		NA																	0					0						c.(2029-2031)CAC>AAC		ATPase, Cu++ transporting, alpha polypeptide							220.0	208.0	212.0					X																	77267028		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77267028C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2029C>A	X.37:g.77267028C>A	ENSP00000345728:p.His677Asn					ATP7A_uc004ecw.2_3'UTR	p.H677N	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			9	2189	+			677			Extracellular (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2029C>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216347	0.39201	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.96265	-3.96;-3.93	5.61	3.8	0.43715	.	0.509095	0.22083	N	0.064867	D	0.91476	0.7309	N	0.25647	0.755	0.80722	D	1	B	0.16802	0.019	B	0.19148	0.024	D	0.84632	0.0690	10	0.25106	T	0.35	-11.1904	10.1619	0.42858	0.1355:0.7917:0.0:0.0727	.	677	Q04656	ATP7A_HUMAN	N	677	ENSP00000343026:H677N;ENSP00000345728:H677N	ENSP00000345728:H677N	H	+	1	0	ATP7A	77153684	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.729000	0.38115	0.509000	0.28195	0.594000	0.82650	CAC		0.378	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		161	127	1	0	9.9684e-85	0.00361	2.16387e-84	161	127				
ATP7A	538	broad.mit.edu	37	X	77298190	77298190	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77298190C>A	ENST00000341514.6	+	20	4064	c.3909C>A	c.(3907-3909)atC>atA	p.I1303I	ATP7A_ENST00000343533.5_Silent_p.I1225I|ATP7A_ENST00000350425.4_Silent_p.I306I	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1303					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GAGATGGAATCAATGACTCCC	0.463																																							uc004ecx.3		NA																	0					0						c.(3907-3909)ATC>ATA		ATPase, Cu++ transporting, alpha polypeptide							223.0	182.0	196.0					X																	77298190		2203	4296	6499	SO:0001819	synonymous_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77298190C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3909C>A	X.37:g.77298190C>A							p.I1303I	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			20	4069	+			1303			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	c.3909C>A	CCDS35339.1																																																																																				0.463	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		144	91	1	0	2.29838e-65	0.00361	4.93648e-65	144	91				
TAF9B	51616	broad.mit.edu	37	X	77387130	77387130	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77387130C>A	ENST00000341864.5	-	7	827	c.733G>T	c.(733-735)Gat>Tat	p.D245Y		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	245	Poly-Asp. {ECO:0000255}.				DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TTGTCATCATCATCTTCATGT	0.358																																							uc004eda.2		NA																	0					0						c.(733-735)GAT>TAT		transcription associated factor 9B							243.0	203.0	217.0					X																	77387130		2203	4296	6499	SO:0001583	missense	51616				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	g.chrX:77387130C>A	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.733G>T	X.37:g.77387130C>A	ENSP00000339917:p.Asp245Tyr						p.D245Y	NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN			7	804	-			245			Poly-Asp.		B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	ENST00000341864.5	37	c.733G>T	CCDS35340.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554951	0.27739	.	.	ENSG00000187325	ENST00000341864	T	0.39056	1.1	4.2	4.2	0.49525	.	0.166845	0.52532	D	0.000075	T	0.46698	0.1406	L	0.46157	1.445	0.51233	D	0.999912	D	0.55172	0.97	P	0.51453	0.67	T	0.51568	-0.8689	10	0.87932	D	0	-0.1255	13.0295	0.58835	0.0:1.0:0.0:0.0	.	245	Q9HBM6	TAF9B_HUMAN	Y	245	ENSP00000339917:D245Y	ENSP00000339917:D245Y	D	-	1	0	TAF9B	77273786	1.000000	0.71417	0.993000	0.49108	0.025000	0.11179	6.481000	0.73608	1.927000	0.55829	0.544000	0.68410	GAT		0.358	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		105	87	1	0	6.17869e-53	0.00361	1.3132e-52	105	87				
CYSLTR1	10800	broad.mit.edu	37	X	77528599	77528599	+	Silent	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77528599G>C	ENST00000373304.3	-	3	937	c.645C>G	c.(643-645)acC>acG	p.T215T		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	215					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTTTTAGTAAGGTCAAAATGA	0.323																																							uc004edb.2		NA																	0				ovary(1)	1						c.(643-645)ACC>ACG		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						56.0	51.0	53.0					X																	77528599		2202	4300	6502	SO:0001819	synonymous_variant	10800				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528599G>C	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.645C>G	X.37:g.77528599G>C						CYSLTR1_uc010nma.2_Silent_p.T215T|CYSLTR1_uc010nmb.2_Silent_p.T215T	p.T215T	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN			3	1045	-			215			Cytoplasmic (Potential).		B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	ENST00000373304.3	37	c.645C>G	CCDS14439.1																																																																																				0.323	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			21	9	0	0	0	0.008871	0	21	9				
ZCCHC5	203430	broad.mit.edu	37	X	77913990	77913990	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:77913990C>A	ENST00000321110.1	-	0	223					NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GAGATCCTTCCTGAAAGCTGC	0.493																																							uc004edc.1		NA																	0				ovary(1)	1						c.(-74--70)CAGGA>CATGA		zinc finger, CCHC domain containing 5																																						203430						nucleic acid binding|zinc ion binding	g.chrX:77913990C>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.-73G>T	X.37:g.77913990C>A								NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	224	-								B2RMZ0|Q5JQE9	Translation_Start_Site	SNP	ENST00000321110.1	37	c.-72G>T	CCDS14440.1																																																																																				0.493	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		3	8	1	0	0.004672	0.004672	0.00490267	3	8				
GPR174	84636	broad.mit.edu	37	X	78427217	78427217	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:78427217T>A	ENST00000276077.1	+	1	749	c.713T>A	c.(712-714)gTa>gAa	p.V238E		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGTGCAGGGGTATTCCTAATT	0.408										HNSCC(63;0.18)																													uc004edg.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(712-714)GTA>GAA		putative purinergic receptor FKSG79							105.0	97.0	99.0					X																	78427217		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427217T>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.713T>A	X.37:g.78427217T>A	ENSP00000276077:p.Val238Glu	HNSCC(63;0.18)					p.V238E	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	749	+			238			Helical; Name=6; (Potential).		Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.713T>A	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	t	15.53	2.860662	0.51482	.	.	ENSG00000147138	ENST00000276077	T	0.76316	-1.01	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	M	0.87827	2.91	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.90574	0.4524	10	0.87932	D	0	.	12.8586	0.57901	0.0:0.0:0.0:1.0	.	238	Q9BXC1	GP174_HUMAN	E	238	ENSP00000276077:V238E	ENSP00000276077:V238E	V	+	2	0	GPR174	78313873	1.000000	0.71417	0.573000	0.28510	0.490000	0.33462	7.802000	0.85969	1.716000	0.51395	0.397000	0.26171	GTA		0.408	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		32	63	0	0	0	0.009535	0	32	63				
ITM2A	9452	broad.mit.edu	37	X	78622629	78622629	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:78622629C>T	ENST00000373298.2	-	1	227	c.84G>A	c.(82-84)acG>acA	p.T28T	ITM2A_ENST00000434584.2_Silent_p.T28T|ITM2A_ENST00000469541.1_5'Flank	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	28						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGTTCTGACCGTGCGGCTCA	0.587																																							uc004edh.2		NA																	0				lung(2)	2						c.(82-84)ACG>ACA		integral membrane protein 2A							38.0	30.0	33.0					X																	78622629		2203	4300	6503	SO:0001819	synonymous_variant	9452					integral to membrane	protein binding	g.chrX:78622629C>T	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.84G>A	X.37:g.78622629C>T						ITM2A_uc011mqr.1_Silent_p.T28T	p.T28T	NM_004867	NP_004858	O43736	ITM2A_HUMAN			1	419	-			28					B2R7X5|B4E062|Q6IBC9	Silent	SNP	ENST00000373298.2	37	c.84G>A	CCDS14444.1																																																																																				0.587	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		6	10	0	0	0	0.001168	0	6	10				
TBX22	50945	broad.mit.edu	37	X	79286260	79286260	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:79286260C>A	ENST00000373294.5	+	8	1241	c.1213C>A	c.(1213-1215)Cca>Aca	p.P405T	TBX22_ENST00000373296.3_Missense_Mutation_p.P405T|TBX22_ENST00000373291.1_Missense_Mutation_p.P285T|TBX22_ENST00000442340.1_Missense_Mutation_p.P285T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	405					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCTTTAGCCCCACTCATGAT	0.443																																							uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(1213-1215)CCA>ACA		T-box 22 isoform 1							167.0	161.0	163.0					X																	79286260		2202	4300	6502	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286260C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1213C>A	X.37:g.79286260C>A	ENSP00000362390:p.Pro405Thr					TBX22_uc004edi.1_Missense_Mutation_p.P285T|TBX22_uc004edj.1_Missense_Mutation_p.P405T	p.P405T	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1347	+			405					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1213C>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	8.422	0.846545	0.16963	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	4.12	3.25	0.37280	.	2.908990	0.00954	N	0.003014	T	0.78266	0.4256	L	0.48362	1.52	0.09310	N	1	P	0.45126	0.851	B	0.41946	0.371	T	0.63589	-0.6603	10	0.66056	D	0.02	.	6.8047	0.23770	0.0:0.7775:0.0:0.2225	.	405	Q9Y458	TBX22_HUMAN	T	405;285;405;285	ENSP00000362393:P405T;ENSP00000396394:P285T;ENSP00000362390:P405T;ENSP00000362388:P285T	ENSP00000362388:P285T	P	+	1	0	TBX22	79172916	0.956000	0.32656	0.606000	0.28943	0.068000	0.16541	2.910000	0.48766	0.759000	0.33084	0.513000	0.50165	CCA		0.443	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		133	85	1	0	1.13993e-56	0.00361	2.43367e-56	133	85				
FAM46D	169966	broad.mit.edu	37	X	79698120	79698120	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:79698120C>A	ENST00000308293.5	+	3	321	c.82C>A	c.(82-84)Cat>Aat	p.H28N	FAM46D_ENST00000538312.1_Missense_Mutation_p.H28N	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	28										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATTCCAATTCATGGAAAGGG	0.373																																							uc004edl.1		NA																	0				lung(2)	2						c.(82-84)CAT>AAT		hypothetical protein LOC169966							87.0	72.0	77.0					X																	79698120		2203	4300	6503	SO:0001583	missense	169966							g.chrX:79698120C>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.82C>A	X.37:g.79698120C>A	ENSP00000308575:p.His28Asn					FAM46D_uc004edm.1_Missense_Mutation_p.H28N	p.H28N	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN			5	416	+			28					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.82C>A	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499156	0.64298	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.25414	1.8;1.8	4.41	4.41	0.53225	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.87971	2.92	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.65294	-0.6203	10	0.72032	D	0.01	-15.2697	14.7747	0.69724	0.0:1.0:0.0:0.0	.	28	Q8NEK8	FA46D_HUMAN	N	28	ENSP00000443410:H28N;ENSP00000308575:H28N	ENSP00000308575:H28N	H	+	1	0	FAM46D	79584776	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.995000	0.76257	2.033000	0.60031	0.422000	0.28245	CAT		0.373	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		10	30	1	0	9.70103e-10	0.008291	1.27086e-09	10	30				
BRWD3	254065	broad.mit.edu	37	X	79952243	79952243	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:79952243G>A	ENST00000373275.4	-	26	3279	c.3063C>T	c.(3061-3063)tcC>tcT	p.S1021S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1021					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCACTTAATGGAAAAAGATT	0.388																																							uc004edt.2		NA																	0				ovary(4)	4						c.(3061-3063)TCC>TCT		bromodomain and WD repeat domain containing 3							100.0	87.0	92.0					X																	79952243		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79952243G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3063C>T	X.37:g.79952243G>A						BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Silent_p.S617S|BRWD3_uc004edp.2_Silent_p.S850S|BRWD3_uc004edq.2_Silent_p.S617S|BRWD3_uc010nmj.1_Silent_p.S617S|BRWD3_uc004edr.2_Silent_p.S691S|BRWD3_uc004eds.2_Silent_p.S617S|BRWD3_uc004edu.2_Silent_p.S691S|BRWD3_uc004edv.2_Silent_p.S617S|BRWD3_uc004edw.2_Silent_p.S617S|BRWD3_uc004edx.2_Silent_p.S617S|BRWD3_uc004edy.2_Silent_p.S617S|BRWD3_uc004edz.2_Silent_p.S691S|BRWD3_uc004eea.2_Silent_p.S691S|BRWD3_uc004eeb.2_Silent_p.S617S	p.S1021S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			26	3326	-			1021					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.3063C>T	CCDS14447.1																																																																																				0.388	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		9	20	0	0	0	0.008291	0	9	20				
BRWD3	254065	broad.mit.edu	37	X	79960191	79960191	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:79960191G>T	ENST00000373275.4	-	23	2923	c.2707C>A	c.(2707-2709)Cag>Aag	p.Q903K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	903					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTCTAGTCTGCTTAGGTTTC	0.318																																							uc004edt.2		NA																	0				ovary(4)	4						c.(2707-2709)CAG>AAG		bromodomain and WD repeat domain containing 3							111.0	98.0	102.0					X																	79960191		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79960191G>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2707C>A	X.37:g.79960191G>T	ENSP00000362372:p.Gln903Lys					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.Q499K|BRWD3_uc004edp.2_Missense_Mutation_p.Q732K|BRWD3_uc004edq.2_Missense_Mutation_p.Q499K|BRWD3_uc010nmj.1_Missense_Mutation_p.Q499K|BRWD3_uc004edr.2_Missense_Mutation_p.Q573K|BRWD3_uc004eds.2_Missense_Mutation_p.Q499K|BRWD3_uc004edu.2_Missense_Mutation_p.Q573K|BRWD3_uc004edv.2_Missense_Mutation_p.Q499K|BRWD3_uc004edw.2_Missense_Mutation_p.Q499K|BRWD3_uc004edx.2_Missense_Mutation_p.Q499K|BRWD3_uc004edy.2_Missense_Mutation_p.Q499K|BRWD3_uc004edz.2_Missense_Mutation_p.Q573K|BRWD3_uc004eea.2_Missense_Mutation_p.Q573K|BRWD3_uc004eeb.2_Missense_Mutation_p.Q499K	p.Q903K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			23	2970	-			903					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2707C>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	1.176	-0.639567	0.03557	.	.	ENSG00000165288	ENST00000373275	T	0.39229	1.09	4.48	4.48	0.54585	.	0.179966	0.49305	D	0.000142	T	0.28333	0.0700	N	0.16307	0.4	0.34004	D	0.650714	B	0.13594	0.008	B	0.15870	0.014	T	0.25012	-1.0144	9	.	.	.	-7.0019	16.6852	0.85303	0.0:0.0:1.0:0.0	.	903	Q6RI45	BRWD3_HUMAN	K	903	ENSP00000362372:Q903K	.	Q	-	1	0	BRWD3	79846847	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.138000	0.64795	2.200000	0.70718	0.544000	0.68410	CAG		0.318	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		32	23	1	0	4.62619e-21	0.004289	8.20385e-21	32	23				
CYLC1	1538	broad.mit.edu	37	X	83128432	83128432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:83128432C>A	ENST00000329312.4	+	4	753	c.716C>A	c.(715-717)tCa>tAa	p.S239*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	239					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.S238*(1)|p.S239*(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						GAGATTTGCTCAGAAAATAGT	0.333																																							uc004eei.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(1)	5						c.(715-717)TCA>TAA		cylicin, basic protein of sperm head							35.0	32.0	33.0					X																	83128432		2194	4289	6483	SO:0001587	stop_gained	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128432C>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.716C>A	X.37:g.83128432C>A	ENSP00000331556:p.Ser239*					CYLC1_uc004eeh.1_Nonsense_Mutation_p.S238*	p.S239*	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	737	+			239					A0AVQ8|Q5JQQ9	Nonsense_Mutation	SNP	ENST00000329312.4	37	c.716C>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	15.74	2.922043	0.52653	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	4.13	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5989	3.5577	0.07870	0.0:0.532:0.2177:0.2503	.	.	.	.	X	239	.	ENSP00000331556:S239X	S	+	2	0	CYLC1	83015088	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.028000	0.12350	0.133000	0.18654	0.513000	0.50165	TCA		0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		11	28	1	0	4.68919e-08	0.008291	5.81656e-08	11	28				
RPS6KA6	27330	broad.mit.edu	37	X	83371266	83371266	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:83371266G>A	ENST00000262752.2	-	12	986	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.H327Y	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	327	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAAAACAGATGTCTTTTGATT	0.299																																							uc004eej.1		NA																	0				lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(979-981)CAT>TAT		ribosomal protein S6 kinase polypeptide 6							65.0	56.0	59.0					X																	83371266		2201	4285	6486	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83371266G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.979C>T	X.37:g.83371266G>A	ENSP00000262752:p.His327Tyr					RPS6KA6_uc011mqt.1_Missense_Mutation_p.H327Y|RPS6KA6_uc011mqu.1_Missense_Mutation_p.H224Y	p.H327Y	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			12	1056	-			327			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.979C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486463	0.84854	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.58797	0.31;0.31	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	H	0.96662	3.86	0.80722	D	1	P;P	0.48350	0.909;0.805	P;P	0.52957	0.714;0.714	D	0.87699	0.2559	10	0.72032	D	0.01	.	17.4353	0.87550	0.0:0.0:1.0:0.0	.	327;327	B7ZL90;Q9UK32	.;KS6A6_HUMAN	Y	327	ENSP00000262752:H327Y;ENSP00000440830:H327Y	ENSP00000262752:H327Y	H	-	1	0	RPS6KA6	83257922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.515000	0.90548	2.142000	0.66516	0.594000	0.82650	CAT		0.299	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		4	26	0	0	0	0.009096	0	4	26				
RPS6KA6	27330	broad.mit.edu	37	X	83411147	83411147	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:83411147T>A	ENST00000262752.2	-	3	201	c.194A>T	c.(193-195)tAt>tTt	p.Y65F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Y65F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	65					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGCTTTCTCATAGCCTTCCTT	0.368																																							uc004eej.1		NA																	0				lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(193-195)TAT>TTT		ribosomal protein S6 kinase polypeptide 6							103.0	84.0	91.0					X																	83411147		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83411147T>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.194A>T	X.37:g.83411147T>A	ENSP00000262752:p.Tyr65Phe					RPS6KA6_uc011mqt.1_Missense_Mutation_p.Y65F|RPS6KA6_uc011mqu.1_5'UTR|RPS6KA6_uc010nmo.1_RNA	p.Y65F	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			3	271	-			65					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.194A>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	T	9.666	1.145400	0.21288	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.69306	-0.38;-0.39	5.42	4.28	0.50868	Protein kinase-like domain (1);	0.057968	0.64402	D	0.000001	T	0.41581	0.1165	N	0.25201	0.72	0.31595	N	0.653427	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.32188	-0.9916	10	0.08599	T	0.76	.	2.1345	0.03758	0.0:0.2487:0.315:0.4363	.	65;65	B7ZL90;Q9UK32	.;KS6A6_HUMAN	F	65	ENSP00000262752:Y65F;ENSP00000440830:Y65F	ENSP00000262752:Y65F	Y	-	2	0	RPS6KA6	83297803	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.442000	0.59988	1.792000	0.52537	0.417000	0.27973	TAT		0.368	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		11	30	0	0	0	0.000978	0	11	30				
HDX	139324	broad.mit.edu	37	X	83723981	83723981	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:83723981A>G	ENST00000297977.5	-	3	861	c.750T>C	c.(748-750)atT>atC	p.I250I	HDX_ENST00000506585.2_Silent_p.I192I|HDX_ENST00000373177.2_Silent_p.I250I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	250						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAGGGTCTCTAATAGTTGGCT	0.438																																					Pancreas(53;231 1169 36156 43751 51139)	Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(748-750)ATT>ATC		highly divergent homeobox							98.0	91.0	94.0					X																	83723981		2203	4299	6502	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723981A>G	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.750T>C	X.37:g.83723981A>G						HDX_uc011mqv.1_Silent_p.I250I|HDX_uc004eel.1_Silent_p.I192I	p.I250I	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	859	-			250					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.750T>C	CCDS35342.1																																																																																				0.438	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		97	58	0	0	0	0.00361	0	97	58				
SATL1	340562	broad.mit.edu	37	X	84363299	84363299	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:84363299G>A	ENST00000395409.3	-	1	675	c.115C>T	c.(115-117)Cca>Tca	p.P39S	SATL1_ENST00000332921.5_Missense_Mutation_p.P39S|SATL1_ENST00000509231.1_Missense_Mutation_p.P226S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	39	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTTATGCCTGGTTGGCTGGGG	0.517																																							uc011mqx.1		NA																	0				breast(2)	2						c.(676-678)CCA>TCA		spermidine/spermine N1-acetyl transferase-like 1							256.0	179.0	205.0					X																	84363299		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84363299G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.115C>T	X.37:g.84363299G>A	ENSP00000378804:p.Pro39Ser					SATL1_uc004een.2_Missense_Mutation_p.P226S	p.P226S	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	676	-			39			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.676C>T		.	.	.	.	.	.	.	.	.	.	-	5.417	0.262078	0.10239	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.39592	1.07;1.07;1.07	2.73	-4.58	0.03410	.	0.549933	0.13795	N	0.362259	T	0.25865	0.0630	L	0.38175	1.15	0.09310	N	1	P;P	0.40332	0.59;0.713	B;B	0.37304	0.078;0.246	T	0.11372	-1.0590	10	0.72032	D	0.01	-9.2639	6.5168	0.22252	0.22:0.4894:0.2906:0.0	.	39;226	Q86VE3;E9PB72	SATL1_HUMAN;.	S	39;39;226	ENSP00000378804:P39S;ENSP00000329115:P39S;ENSP00000425421:P226S	ENSP00000329115:P39S	P	-	1	0	SATL1	84249955	0.415000	0.25416	0.000000	0.03702	0.004000	0.04260	2.358000	0.44134	-1.344000	0.02216	0.384000	0.25694	CCA		0.517	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		80	57	0	0	0	0.00361	0	80	57				
ZNF711	7552	broad.mit.edu	37	X	84510740	84510740	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:84510740T>A	ENST00000373165.3	+	4	861	c.555T>A	c.(553-555)acT>acA	p.T185T	ZNF711_ENST00000360700.4_Silent_p.T185T|ZNF711_ENST00000395402.1_Silent_p.T163T|ZNF711_ENST00000276123.3_Silent_p.T185T|ZNF711_ENST00000542798.1_5'UTR	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	185					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CTACAGTTACTATAAAAACCG	0.388																																							uc004eeo.2		NA																	0				ovary(3)|skin(1)	4						c.(553-555)ACT>ACA		zinc finger protein 711							68.0	68.0	68.0					X																	84510740		2203	4300	6503	SO:0001819	synonymous_variant	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84510740T>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.555T>A	X.37:g.84510740T>A						ZNF711_uc004eep.2_Silent_p.T185T|ZNF711_uc004eeq.2_Silent_p.T185T	p.T185T	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			4	902	+			185					B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	c.555T>A	CCDS35344.1																																																																																				0.388	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		24	46	0	0	0	0.00333	0	24	46				
KLHL4	56062	broad.mit.edu	37	X	86772993	86772993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:86772993G>T	ENST00000373119.4	+	1	242	c.97G>T	c.(97-99)Gga>Tga	p.G33*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.G33*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	33						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CACCAACACTGGAAGCTGTCT	0.493																																							uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(97-99)GGA>TGA		kelch-like 4 isoform 1							98.0	88.0	91.0					X																	86772993		2203	4300	6503	SO:0001587	stop_gained	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86772993G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.97G>T	X.37:g.86772993G>T	ENSP00000362211:p.Gly33*					KLHL4_uc004efa.2_Nonsense_Mutation_p.G33*	p.G33*	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			1	279	+			33					B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	ENST00000373119.4	37	c.97G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	37	6.523690	0.97637	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	5.05	4.19	0.49359	.	1.519690	0.04232	N	0.335440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.8155	0.52207	0.0863:0.0:0.9137:0.0	.	.	.	.	X	33	.	ENSP00000362206:G33X	G	+	1	0	KLHL4	86659649	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	6.861000	0.75478	1.111000	0.41721	0.513000	0.50165	GGA		0.493	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			34	98	1	0	1.76533e-06	0.003755	2.08443e-06	34	98				
CPXCR1	53336	broad.mit.edu	37	X	88008905	88008905	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:88008905G>T	ENST00000276127.4	+	3	749	c.490G>T	c.(490-492)Gct>Tct	p.A164S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.A164S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	164							metal ion binding (GO:0046872)	p.A164S(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTCTCTCAGGCTGCAGGGTG	0.388																																							uc004efd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(490-492)GCT>TCT		CPX chromosome region, candidate 1							58.0	48.0	51.0					X																	88008905		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008905G>T	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.490G>T	X.37:g.88008905G>T	ENSP00000276127:p.Ala164Ser					CPXCR1_uc004efc.3_Missense_Mutation_p.A164S	p.A164S	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	749	+			164					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.490G>T	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942442	0.34283	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.44083	0.93;0.93	2.92	-5.85	0.02311	.	2.801600	0.01727	N	0.028623	T	0.23171	0.0560	L	0.27053	0.805	0.09310	N	1	B	0.23891	0.093	B	0.20955	0.032	T	0.07520	-1.0768	9	.	.	.	-0.0309	0.146	0.00088	0.2998:0.2579:0.1806:0.2617	.	164	Q8N123	CPXCR_HUMAN	S	164	ENSP00000276127:A164S;ENSP00000362203:A164S	.	A	+	1	0	CPXCR1	87895561	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.631000	0.05496	-2.107000	0.00840	-0.229000	0.12294	GCT		0.388	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		16	32	1	0	1.33834e-09	0.007413	1.73886e-09	16	32				
TGIF2LX	90316	broad.mit.edu	37	X	89177276	89177276	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:89177276C>G	ENST00000561129.2	+	1	322	c.192C>G	c.(190-192)atC>atG	p.I64M	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.I64M			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGTTAAGATCCTCCGCGACT	0.463																																							uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(190-192)ATC>ATG		TGFB-induced factor homeobox 2-like, X-linked							41.0	38.0	39.0					X																	89177276		2201	4278	6479	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177276C>G	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.192C>G	X.37:g.89177276C>G	ENSP00000453704:p.Ile64Met						p.I64M	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	241	+			64			Homeobox; TALE-type.		Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.192C>G	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	7.629	0.678430	0.14841	.	.	ENSG00000153779	ENST00000283891	D	0.84873	-1.91	2.57	0.766	0.18476	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.246304	0.25833	N	0.028007	D	0.87767	0.6260	M	0.64404	1.975	0.39728	D	0.971567	D	0.89917	1.0	D	0.71184	0.972	D	0.84144	0.0419	9	.	.	.	-0.2037	6.4159	0.21715	0.0:0.7161:0.0:0.2839	.	64	Q8IUE1	TF2LX_HUMAN	M	64	ENSP00000355119:I64M	.	I	+	3	3	TGIF2LX	89063932	0.503000	0.26115	0.220000	0.23810	0.037000	0.13140	-0.654000	0.05354	0.081000	0.16988	-0.305000	0.09177	ATC		0.463	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		46	33	0	0	0	0.00361	0	46	33				
TGIF2LX	90316	broad.mit.edu	37	X	89177530	89177530	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:89177530G>A	ENST00000561129.2	+	1	576	c.446G>A	c.(445-447)aGt>aAt	p.S149N	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.S149N			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TCAGGGCCCAGTGGTCCAGAC	0.602																																							uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(445-447)AGT>AAT		TGFB-induced factor homeobox 2-like, X-linked							67.0	65.0	66.0					X																	89177530		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177530G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.446G>A	X.37:g.89177530G>A	ENSP00000453704:p.Ser149Asn						p.S149N	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	495	+			149					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.446G>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	1.275	-0.611847	0.03690	.	.	ENSG00000153779	ENST00000283891	T	0.64803	-0.12	2.8	-2.35	0.06684	.	.	.	.	.	T	0.37433	0.1003	N	0.19112	0.55	0.09310	N	1	B	0.23937	0.094	B	0.15870	0.014	T	0.13469	-1.0508	8	.	.	.	-7.8982	4.6553	0.12615	0.4569:0.1606:0.3825:0.0	.	149	Q8IUE1	TF2LX_HUMAN	N	149	ENSP00000355119:S149N	.	S	+	2	0	TGIF2LX	89064186	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.966000	0.03825	-0.834000	0.04239	-0.332000	0.08345	AGT		0.602	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		20	60	0	0	0	0.001882	0	20	60				
PCDH11X	27328	broad.mit.edu	37	X	91133695	91133695	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:91133695C>A	ENST00000373094.1	+	2	3301	c.2456C>A	c.(2455-2457)gCt>gAt	p.A819D	PCDH11X_ENST00000504220.2_Missense_Mutation_p.A819D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A819D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A819D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A819D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A819D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A819D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A819D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A819D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	819					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCAGCTGTTGCTGGCACCATA	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(2455-2457)GCT>GAT		protocadherin 11 X-linked isoform c							56.0	47.0	50.0					X																	91133695		2202	4280	6482	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133695C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2456C>A	X.37:g.91133695C>A	ENSP00000362186:p.Ala819Asp					PCDH11X_uc004efl.1_Missense_Mutation_p.A819D|PCDH11X_uc004efo.1_Missense_Mutation_p.A819D|PCDH11X_uc010nmv.1_Missense_Mutation_p.A819D|PCDH11X_uc004efm.1_Missense_Mutation_p.A819D|PCDH11X_uc004efn.1_Missense_Mutation_p.A819D|PCDH11X_uc004efh.1_Missense_Mutation_p.A819D|PCDH11X_uc004efj.1_Missense_Mutation_p.A819D	p.A819D	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3301	+			819			Helical; (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2456C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195807	0.38806	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.15	5.15	0.70609	Protocadherin (1);	0.113350	0.64402	D	0.000015	T	0.69708	0.3141	M	0.77103	2.36	0.50632	D	0.999884	D;D;D;D;D;D;D;D	0.76494	0.995;0.997;0.999;0.999;0.999;0.999;0.995;0.995	D;D;D;D;D;D;D;D	0.74348	0.948;0.972;0.972;0.972;0.972;0.983;0.948;0.948	T	0.74856	-0.3522	10	0.87932	D	0	.	16.6077	0.84835	0.0:1.0:0.0:0.0	.	819;819;819;819;819;819;819;819	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	D	819	ENSP00000378746:A819D;ENSP00000362186:A819D;ENSP00000362189:A819D;ENSP00000355040:A819D;ENSP00000362180:A819D;ENSP00000423762:A819D;ENSP00000355105:A819D;ENSP00000384758:A819D;ENSP00000298274:A819D	ENSP00000298274:A819D	A	+	2	0	PCDH11X	91020351	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	5.820000	0.69250	2.123000	0.65237	0.594000	0.82650	GCT		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		42	69	1	0	5.85753e-14	0.00361	8.80794e-14	42	69				
PCDH11X	27328	broad.mit.edu	37	X	91133962	91133962	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:91133962C>G	ENST00000373094.1	+	2	3568	c.2723C>G	c.(2722-2724)cCt>cGt	p.P908R	PCDH11X_ENST00000504220.2_Missense_Mutation_p.P908R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P908R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P908R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P908R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P908R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P908R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P908R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P908R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	908					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTAGACCTTCCTATTGATCTA	0.418																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(2722-2724)CCT>CGT		protocadherin 11 X-linked isoform c							100.0	89.0	93.0					X																	91133962		2203	4297	6500	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133962C>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2723C>G	X.37:g.91133962C>G	ENSP00000362186:p.Pro908Arg					PCDH11X_uc004efl.1_Missense_Mutation_p.P908R|PCDH11X_uc004efo.1_Missense_Mutation_p.P908R|PCDH11X_uc010nmv.1_Missense_Mutation_p.P908R|PCDH11X_uc004efm.1_Missense_Mutation_p.P908R|PCDH11X_uc004efn.1_Missense_Mutation_p.P908R|PCDH11X_uc004efh.1_Missense_Mutation_p.P908R|PCDH11X_uc004efj.1_Missense_Mutation_p.P908R	p.P908R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3568	+			908			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2723C>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665270	0.47677	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.77;0.78;0.73;0.8;0.78;0.76;0.79;0.8	5.16	5.16	0.70880	Protocadherin (1);	0.114208	0.64402	D	0.000011	T	0.68339	0.2990	M	0.72894	2.215	0.46376	D	0.999011	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.999;0.999;0.999;0.997;0.997	D;D;D;D;D;D;D;D	0.79108	0.975;0.986;0.986;0.986;0.986;0.992;0.975;0.975	T	0.72786	-0.4188	10	0.87932	D	0	.	16.6257	0.84969	0.0:1.0:0.0:0.0	.	908;908;908;908;908;908;908;908	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	R	908	ENSP00000378746:P908R;ENSP00000362186:P908R;ENSP00000362189:P908R;ENSP00000355040:P908R;ENSP00000362180:P908R;ENSP00000423762:P908R;ENSP00000355105:P908R;ENSP00000384758:P908R;ENSP00000298274:P908R	ENSP00000298274:P908R	P	+	2	0	PCDH11X	91020618	1.000000	0.71417	0.986000	0.45419	0.709000	0.40893	5.483000	0.66838	2.127000	0.65507	0.600000	0.82982	CCT		0.418	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		50	114	0	0	0	0.00361	0	50	114				
PCDH11X	27328	broad.mit.edu	37	X	91873433	91873433	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:91873433G>T	ENST00000373094.1	+	7	4383	c.3538G>T	c.(3538-3540)Gcc>Tcc	p.A1180S	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1172S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1170S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1143S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1143S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1162S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1180					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGTCACAGGCCTCTACTCA	0.592																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(3538-3540)GCC>TCC		protocadherin 11 X-linked isoform c							188.0	148.0	161.0					X																	91873433		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873433G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3538G>T	X.37:g.91873433G>T	ENSP00000362186:p.Ala1180Ser					PCDH11X_uc004efl.1_Missense_Mutation_p.A1170S|PCDH11X_uc004efo.1_Missense_Mutation_p.A1143S|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1172S|PCDH11X_uc004efn.1_Missense_Mutation_p.A1162S	p.A1180S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4383	+			1180			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3538G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	5.021	0.189541	0.09547	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.51574	0.71;0.73;0.73;0.7;0.73;0.72	3.54	-5.3	0.02738	.	.	.	.	.	T	0.18257	0.0438	N	0.08118	0	0.09310	N	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	0.001;0.001;0.001;0.001;0.001	T	0.27191	-1.0081	9	0.09590	T	0.72	.	4.7308	0.12964	0.2164:0.0:0.4801:0.3034	.	1143;1162;1172;1170;1180	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	S	1180;1170;1143;1162;1172;1180;1143	ENSP00000362186:A1180S;ENSP00000362189:A1170S;ENSP00000362180:A1143S;ENSP00000355105:A1162S;ENSP00000384758:A1172S;ENSP00000298274:A1143S	ENSP00000298274:A1143S	A	+	1	0	PCDH11X	91760089	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.806000	0.04525	-1.138000	0.02884	0.370000	0.22315	GCC		0.592	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		39	96	1	0	4.92203e-23	0.00623	8.99739e-23	39	96				
FAM133A	286499	broad.mit.edu	37	X	92964479	92964479	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:92964479G>T	ENST00000355813.5	+	4	587	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	FAM133A_ENST00000332647.4_Missense_Mutation_p.G21C|FAM133A_ENST00000538690.1_Missense_Mutation_p.G21C|FAM133A_ENST00000322139.4_Missense_Mutation_p.G21C	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	21										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						CAGATGGAGAGGCCCAACTCA	0.458																																							uc004efr.1		NA																	0					0						c.(61-63)GGC>TGC		hypothetical protein LOC286499							25.0	25.0	25.0					X																	92964479		2201	4295	6496	SO:0001583	missense	286499							g.chrX:92964479G>T	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.61G>T	X.37:g.92964479G>T	ENSP00000348067:p.Gly21Cys						p.G21C	NM_173698	NP_775969	Q8N9E0	F133A_HUMAN			4	374	+			21						Missense_Mutation	SNP	ENST00000355813.5	37	c.61G>T	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.871567	0.51695	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	3.27	2.4	0.29515	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.75264	2.295	0.29222	N	0.873882	D	0.89917	1.0	D	0.87578	0.998	T	0.53063	-0.8491	10	0.87932	D	0	-2.0485	5.4918	0.16781	0.1564:0.0:0.8436:0.0	.	21	Q8N9E0	F133A_HUMAN	C	21	ENSP00000441389:G21C;ENSP00000348067:G21C;ENSP00000318974:G21C;ENSP00000362169:G21C	ENSP00000318974:G21C	G	+	1	0	FAM133A	92851135	1.000000	0.71417	0.920000	0.36463	0.998000	0.95712	2.867000	0.48428	0.759000	0.33084	0.591000	0.81541	GGC		0.458	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		16	19	1	0	9.16793e-09	0.00499	1.15737e-08	16	19				
DIAPH2	1730	broad.mit.edu	37	X	96212929	96212929	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:96212929G>C	ENST00000324765.8	+	16	2064	c.1717G>C	c.(1717-1719)Gga>Cga	p.G573R	DIAPH2_ENST00000373054.4_Missense_Mutation_p.G569R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G573R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G573R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.G573R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	573	FH1.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.G573R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACCTCTACCCGGAGGAGCTCC	0.592																																							uc004efu.3		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)|lung(1)	4						c.(1717-1719)GGA>CGA		diaphanous 2 isoform 156							49.0	43.0	45.0					X																	96212929		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96212929G>C	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1717G>C	X.37:g.96212929G>C	ENSP00000321348:p.Gly573Arg					DIAPH2_uc004eft.3_Missense_Mutation_p.G573R	p.G573R	NM_006729	NP_006720	O60879	DIAP2_HUMAN			16	2113	+			573			FH1.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1717G>C	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819796	0.32145	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.09	-1.95	0.07548	.	5.916000	0.01819	U	0.033925	T	0.78097	0.4230	M	0.85945	2.785	0.09310	N	0.999997	B;B	0.13145	0.004;0.007	B;B	0.10450	0.002;0.005	T	0.48198	-0.9056	10	0.23891	T	0.37	.	6.917	0.24365	0.4059:0.1077:0.4864:0.0	.	573;573	O60879;O60879-2	DIAP2_HUMAN;.	R	573;569;573;573;573;580	ENSP00000362152:G573R;ENSP00000362145:G569R;ENSP00000348082:G573R;ENSP00000362140:G573R;ENSP00000321348:G573R	ENSP00000321348:G573R	G	+	1	0	DIAPH2	96099585	0.604000	0.26932	0.000000	0.03702	0.003000	0.03518	1.800000	0.38833	-0.955000	0.03636	-0.928000	0.02712	GGA		0.592	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		19	16	0	0	0	0.006122	0	19	16				
ARMCX2	9823	broad.mit.edu	37	X	100911707	100911707	+	Silent	SNP	G	G	T	rs143836164	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:100911707G>T	ENST00000328766.5	-	5	1321	c.868C>A	c.(868-870)Cgg>Agg	p.R290R	ARMCX2_ENST00000356824.4_Silent_p.R290R|ARMCX2_ENST00000330154.2_Silent_p.R290R|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	290						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCCCATTCCGGGACCTGGTT	0.592																																							uc004eid.2		NA																	0				ovary(6)	6						c.(868-870)CGG>AGG		ALEX2 protein							139.0	147.0	144.0					X																	100911707		2203	4300	6503	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100911707G>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.868C>A	X.37:g.100911707G>T						ARMCX2_uc004eie.3_Silent_p.R290R|ARMCX2_uc004eif.3_Silent_p.R290R|ARMCX2_uc004eig.3_Silent_p.R290R|ARMCX2_uc010nnt.2_Silent_p.R290R	p.R290R	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	1223	-			290					O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.868C>A	CCDS14490.1																																																																																				0.592	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		47	118	1	0	8.48111e-28	0.00361	1.64988e-27	47	118				
ARMCX5	64860	broad.mit.edu	37	X	101857907	101857907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:101857907G>T	ENST00000604957.1	+	1	3460	c.838G>T	c.(838-840)Gag>Tag	p.E280*	ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.E280*|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.E280*|ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.E280*|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.E280*|ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.E280*	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	280										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GACCTTAGCTGAGATCAAAAA	0.458																																							uc004ejg.2		NA																	0				ovary(1)	1						c.(838-840)GAG>TAG		armadillo repeat containing, X-linked 5							89.0	83.0	85.0					X																	101857907		2203	4300	6503	SO:0001587	stop_gained	64860						binding	g.chrX:101857907G>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.838G>T	X.37:g.101857907G>T	ENSP00000474720:p.Glu280*					ARMCX5_uc004ejh.2_Nonsense_Mutation_p.E280*	p.E280*	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1719	+			280					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Nonsense_Mutation	SNP	ENST00000604957.1	37	c.838G>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	38	7.267573	0.98175	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	.	.	.	3.9	3.03	0.35002	.	0.338015	0.21632	N	0.071467	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-3.0193	6.4509	0.21903	0.1335:0.0:0.8665:0.0	.	.	.	.	X	280	.	ENSP00000246174:E280X	E	+	1	0	ARMCX5	101744563	1.000000	0.71417	0.790000	0.31976	0.355000	0.29361	4.262000	0.58847	1.015000	0.39444	0.600000	0.82982	GAG		0.458	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		63	63	1	0	6.12789e-21	0.00361	1.08264e-20	63	63				
ARMCX5	64860	broad.mit.edu	37	X	101857943	101857943	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:101857943G>T	ENST00000604957.1	+	1	3496	c.874G>T	c.(874-876)Ggg>Tgg	p.G292W	ARMCX5_ENST00000372742.1_Missense_Mutation_p.G292W|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G292W|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G292W|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G292W|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G292W	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	292										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGAAAAGTATGGGCCTAATCC	0.443																																							uc004ejg.2		NA																	0				ovary(1)	1						c.(874-876)GGG>TGG		armadillo repeat containing, X-linked 5							69.0	65.0	66.0					X																	101857943		2203	4299	6502	SO:0001583	missense	64860						binding	g.chrX:101857943G>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.874G>T	X.37:g.101857943G>T	ENSP00000474720:p.Gly292Trp					ARMCX5_uc004ejh.2_Missense_Mutation_p.G292W	p.G292W	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1755	+			292					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.874G>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687270	0.48097	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	3.67	3.67	0.42095	.	0.166576	0.29034	N	0.013357	T	0.31071	0.0785	L	0.29908	0.895	0.41177	D	0.9862	D	0.89917	1.0	D	0.91635	0.999	T	0.06215	-1.0839	10	0.87932	D	0	-4.0369	10.0142	0.42006	0.0:0.0:1.0:0.0	.	292	Q6P1M9	ARMX5_HUMAN	W	292	ENSP00000246174:G292W;ENSP00000439001:G292W;ENSP00000446385:G292W;ENSP00000445851:G292W;ENSP00000361827:G292W	ENSP00000246174:G292W	G	+	1	0	ARMCX5	101744599	0.998000	0.40836	1.000000	0.80357	0.922000	0.55478	0.985000	0.29578	2.114000	0.64651	0.600000	0.82982	GGG		0.443	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		61	54	1	0	6.60958e-23	0.00361	1.20205e-22	61	54				
GLRA4	441509	broad.mit.edu	37	X	102968568	102968568	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:102968568C>A	ENST00000372617.4	-	8	1383	c.963G>T	c.(961-963)tgG>tgT	p.W321C	TMEM31_ENST00000319560.6_Missense_Mutation_p.S50Y	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	321						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)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACACAGCCATCCAGATGTCGA	0.463																																							uc011mse.1		NA																	0					0						c.(961-963)TGG>TGT		glycine receptor, alpha 4 precursor							212.0	152.0	172.0					X																	102968568		2203	4300	6503	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:102968568C>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.963G>T	X.37:g.102968568C>A	ENSP00000361700:p.Trp321Cys					TMEM31_uc004elh.2_Missense_Mutation_p.S50Y	p.W321C	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			8	1384	-			321			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.963G>T	CCDS43980.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.297051|4.297051	0.81025|0.81025	.|.	.|.	ENSG00000179363|ENSG00000188828	ENST00000319560|ENST00000372617	.|D	.|0.85013	.|-1.93	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Neurotransmitter-gated ion-channel transmembrane domain (2);	.|0.134260	.|0.64402	.|D	.|0.000019	D|D	0.84840|0.84840	0.5561|0.5561	N|N	0.08118|0.08118	0|0	0.48135|0.48135	D|D	0.999595|0.999595	D|D	0.89917|0.89917	1.0|1.0	D|D	0.91635|0.97110	0.999|1.0	D|D	0.88592|0.88592	0.3144|0.3144	8|10	0.87932|0.87932	D|D	0|0	-7.6873|-7.6873	15.6855|15.6855	0.77405|0.77405	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	50|321	Q5JXX7|Q5JXX5	TMM31_HUMAN|GLRA4_HUMAN	Y|C	50|321	.|ENSP00000361700:W321C	ENSP00000316940:S50Y|ENSP00000361700:W321C	S|W	+|-	2|3	0|0	TMEM31|GLRA4	102855224|102855224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.299000|2.299000	0.77371|0.77371	0.523000|0.523000	0.50628|0.50628	TCC|TGG		0.463	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		25	61	1	0	7.87624e-14	0.00278	1.17689e-13	25	61				
TMEM31	203562	broad.mit.edu	37	X	102968923	102968923	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:102968923C>A	ENST00000319560.6	+	3	695	c.504C>A	c.(502-504)ttC>ttA	p.F168L	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	168						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						tgatcttcttctgattctttt	0.368																																							uc004elh.2		NA																	0					0						c.(502-504)TTC>TTA		transmembrane protein 31							33.0	19.0	23.0					X																	102968923		2196	4282	6478	SO:0001583	missense	203562					integral to membrane		g.chrX:102968923C>A	BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.504C>A	X.37:g.102968923C>A	ENSP00000316940:p.Phe168Leu					GLRA4_uc011mse.1_Intron	p.F168L	NM_182541	NP_872347	Q5JXX7	TMM31_HUMAN			3	695	+			168			Helical; (Potential).		Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	c.504C>A	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	C	0.217	-1.032011	0.02029	.	.	ENSG00000179363	ENST00000319560	.	.	.	3.9	-0.0714	0.13743	.	.	.	.	.	T	0.17492	0.0420	N	0.08118	0	0.25448	N	0.988038	B	0.26708	0.157	B	0.27715	0.082	T	0.21177	-1.0253	8	0.87932	D	0	.	4.9344	0.13934	0.1495:0.5561:0.0:0.2945	.	168	Q5JXX7	TMM31_HUMAN	L	168	.	ENSP00000316940:F168L	F	+	3	2	TMEM31	102855579	0.982000	0.34865	0.296000	0.24974	0.014000	0.08584	0.383000	0.20651	-0.436000	0.07254	-2.244000	0.00286	TTC		0.368	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		8	7	1	0	1.06961e-07	0.00308	1.31304e-07	8	7				
ESX1	80712	broad.mit.edu	37	X	103495214	103495214	+	Missense_Mutation	SNP	A	A	C	rs201963432		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:103495214A>C	ENST00000372588.4	-	4	999	c.916T>G	c.(916-918)Tgg>Ggg	p.W306G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	306	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ATGGGCGGCCAGGGTGGCACA	0.776													c|||	16	0.00423841	0.0045	0.0043	3775	,	,		6406	0.006		0.001	False		,,,				2504	0.0				Pancreas(200;1705 2227 25194 28471 45274)	Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NA																	0				ovary(1)	1						c.(916-918)TGG>GGG		extraembryonic, spermatogenesis, homeobox							6.0	8.0	8.0					X																	103495214		1830	3661	5491	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495214A>C	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.916T>G	X.37:g.103495214A>C	ENSP00000361669:p.Trp306Gly						p.W306G	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			4	974	-			306			7.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.916T>G	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	a	0.067	-1.210327	0.01555	.	.	ENSG00000123576	ENST00000372588	T	0.46819	0.86	1.97	-3.94	0.04130	.	.	.	.	.	T	0.17109	0.0411	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	9	0.15066	T	0.55	.	9.9937	0.41887	0.3946:0.6054:0.0:0.0	.	306	Q8N693	ESX1_HUMAN	G	306	ENSP00000361669:W306G	ENSP00000361669:W306G	W	-	1	0	ESX1	103381870	0.040000	0.19996	0.001000	0.08648	0.017000	0.09413	0.073000	0.14640	-3.165000	0.00226	-2.102000	0.00361	TGG		0.776	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		5	15	0	0	0	0.000602	0	5	15				
ESX1	80712	broad.mit.edu	37	X	103495217	103495217	+	Missense_Mutation	SNP	G	G	T	rs573223696		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:103495217G>T	ENST00000372588.4	-	4	996	c.913C>A	c.(913-915)Ccc>Acc	p.P305T		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	305	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGCGGCCAGGGTGGCACAGGC	0.781													g|||	13	0.00344371	0.003	0.0043	3775	,	,		6226	0.006		0.0	False		,,,				2504	0.0				Pancreas(200;1705 2227 25194 28471 45274)	Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NA																	0				ovary(1)	1						c.(913-915)CCC>ACC		extraembryonic, spermatogenesis, homeobox							7.0	9.0	8.0					X																	103495217		1913	3759	5672	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495217G>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.913C>A	X.37:g.103495217G>T	ENSP00000361669:p.Pro305Thr						p.P305T	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			4	971	-			305			7.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.913C>A	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	7.686	0.690085	0.15039	.	.	ENSG00000123576	ENST00000372588	T	0.73789	-0.78	1.97	0.812	0.18744	.	.	.	.	.	T	0.60856	0.2301	L	0.44542	1.39	0.09310	N	1	B	0.27853	0.191	B	0.21708	0.036	T	0.51949	-0.8640	9	0.45353	T	0.12	.	4.8335	0.13453	0.0:0.0:0.6413:0.3587	.	305	Q8N693	ESX1_HUMAN	T	305	ENSP00000361669:P305T	ENSP00000361669:P305T	P	-	1	0	ESX1	103381873	0.001000	0.12720	0.011000	0.14972	0.029000	0.11900	-1.208000	0.03005	0.739000	0.32628	0.124000	0.15798	CCC		0.781	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		7	17	1	0	8.12818e-05	0.001984	8.99342e-05	7	17				
COL4A6	1288	broad.mit.edu	37	X	107402958	107402958	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:107402958G>T	ENST00000372216.4	-	44	4649	c.4549C>A	c.(4549-4551)Ccc>Acc	p.P1517T	COL4A6_ENST00000545689.1_Missense_Mutation_p.P1492T|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1516T|COL4A6_ENST00000418180.1_Missense_Mutation_p.P51T|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1459T|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1517T	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1517	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTGAAGCGGGGCAGACAGGAG	0.567									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(4549-4551)CCC>ACC		type IV alpha 6 collagen isoform A precursor							89.0	90.0	89.0					X																	107402958		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107402958G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4549C>A	X.37:g.107402958G>T	ENSP00000361290:p.Pro1517Thr					COL4A6_uc004env.3_Missense_Mutation_p.P1516T|COL4A6_uc011msn.1_Missense_Mutation_p.P1492T|COL4A6_uc010npk.2_Missense_Mutation_p.P1459T|COL4A6_uc011msm.1_Missense_Mutation_p.P51T|COL4A6_uc010npj.2_5'UTR	p.P1517T	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			44	4652	-			1517			Collagen IV NC1.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4549C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380731	0.61845	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	4.82	4.82	0.62117	C-type lectin fold (1);	0.000000	0.38663	N	0.001610	D	0.95705	0.8603	L	0.56396	1.775	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.974;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.999;0.876;1.0;1.0;0.999	D	0.94816	0.7983	10	0.34782	T	0.22	.	17.7817	0.88526	0.0:0.0:1.0:0.0	.	1492;51;1459;1517;1516	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	T	51;1517;1516;1517;1504;1492;1459	ENSP00000406002:P51T;ENSP00000361290:P1517T;ENSP00000334733:P1516T;ENSP00000378340:P1517T;ENSP00000443707:P1492T;ENSP00000445236:P1459T	ENSP00000334733:P1516T	P	-	1	0	COL4A6	107289614	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	5.617000	0.67716	2.326000	0.78906	0.529000	0.55759	CCC		0.567	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			46	130	1	0	2.47872e-24	0.002522	4.62003e-24	46	130				
COL4A6	1288	broad.mit.edu	37	X	107422547	107422547	+	Silent	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:107422547G>A	ENST00000372216.4	-	26	2356	c.2256C>T	c.(2254-2256)gaC>gaT	p.D752D	COL4A6_ENST00000545689.1_Silent_p.D751D|COL4A6_ENST00000334504.7_Silent_p.D751D|COL4A6_ENST00000538570.1_Silent_p.D751D|COL4A6_ENST00000394872.2_Silent_p.D752D	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	752	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACCAAAGATGTCACCAGTGG	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(2254-2256)GAC>GAT		type IV alpha 6 collagen isoform A precursor							95.0	76.0	83.0					X																	107422547		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107422547G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2256C>T	X.37:g.107422547G>A						COL4A6_uc004env.3_Silent_p.D751D|COL4A6_uc011msn.1_Silent_p.D751D|COL4A6_uc010npk.2_Silent_p.D751D	p.D752D	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			26	2359	-			752			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.2256C>T	CCDS14541.1																																																																																				0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			19	60	0	0	0	0.001882	0	19	60				
COL4A5	1287	broad.mit.edu	37	X	107909782	107909782	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:107909782C>A	ENST00000361603.2	+	39	3755	c.3511C>A	c.(3511-3513)Caa>Aaa	p.Q1171K	COL4A5_ENST00000328300.6_Missense_Mutation_p.Q1171K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1171	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAAACCCGGTCAAGATGGTAT	0.443									Alport syndrome with Diffuse Leiomyomatosis																														uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(3511-3513)CAA>AAA		type IV collagen alpha 5 isoform 2 precursor							68.0	60.0	62.0					X																	107909782		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107909782C>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3511C>A	X.37:g.107909782C>A	ENSP00000354505:p.Gln1171Lys					COL4A5_uc011mso.1_Missense_Mutation_p.Q1171K	p.Q1171K	NM_033380	NP_203699	P29400	CO4A5_HUMAN			39	3713	+			1171			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.3511C>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478828	0.44044	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93366	-3.1;-3.21	5.49	5.49	0.81192	.	0.089289	0.51477	D	0.000098	D	0.88584	0.6476	N	0.16833	0.445	0.43512	D	0.995773	B;B	0.29481	0.245;0.245	B;B	0.35182	0.197;0.197	D	0.85340	0.1095	10	0.14252	T	0.57	.	18.4199	0.90587	0.0:1.0:0.0:0.0	.	1171;1171	E7EVY4;P29400	.;CO4A5_HUMAN	K	1171	ENSP00000331902:Q1171K;ENSP00000354505:Q1171K	ENSP00000331902:Q1171K	Q	+	1	0	COL4A5	107796438	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.556000	0.73932	2.290000	0.77057	0.600000	0.82982	CAA		0.443	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			11	10	1	0	2.80697e-09	0.000978	3.62059e-09	11	10				
ZCCHC12	170261	broad.mit.edu	37	X	117959831	117959831	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:117959831C>T	ENST00000310164.2	+	4	1131	c.624C>T	c.(622-624)aaC>aaT	p.N208N		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	208					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGCTTCCCAACTTTCTGGAGT	0.483																																							uc004equ.2		NA																	0				ovary(1)	1						c.(622-624)AAC>AAT		zinc finger, CCHC domain containing 12							51.0	51.0	51.0					X																	117959831		2201	4299	6500	SO:0001819	synonymous_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959831C>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.624C>T	X.37:g.117959831C>T							p.N208N	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1097	+			208					B3KV48|Q6PID5|Q8N1C1	Silent	SNP	ENST00000310164.2	37	c.624C>T	CCDS14574.1																																																																																				0.483	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		57	52	0	0	0	0.00361	0	57	52				
LONRF3	79836	broad.mit.edu	37	X	118109535	118109535	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:118109535C>G	ENST00000371628.3	+	1	823	c.792C>G	c.(790-792)ctC>ctG	p.L264L	LONRF3_ENST00000304778.7_Silent_p.L264L|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	264							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CGGCACTGCTCAAGTACAACG	0.667																																							uc004eqw.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(790-792)CTC>CTG		LON peptidase N-terminal domain and ring finger							18.0	13.0	15.0					X																	118109535		2166	4237	6403	SO:0001819	synonymous_variant	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118109535C>G	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.792C>G	X.37:g.118109535C>G						LONRF3_uc004eqx.2_Silent_p.L264L|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank	p.L264L	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			1	823	+			264			TPR 2.		Q5JPN6|Q8NB00|Q9H647	Silent	SNP	ENST00000371628.3	37	c.792C>G	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264689	0.23136	.	.	ENSG00000175556	ENST00000439603	.	.	.	4.4	-1.38	0.09027	.	.	.	.	.	T	0.69628	0.3132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70846	-0.4761	4	.	.	.	-7.5349	18.162	0.89710	0.0:0.3263:0.6736:0.0	.	.	.	.	E	71	.	.	Q	+	1	0	LONRF3	117993563	0.989000	0.36119	0.990000	0.47175	0.977000	0.68977	0.034000	0.13776	-0.184000	0.10567	0.600000	0.82982	CAA		0.667	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		14	6	0	0	0	0.00499	0	14	6				
KIAA1210	57481	broad.mit.edu	37	X	118221720	118221720	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:118221720G>T	ENST00000402510.2	-	11	3472	c.3473C>A	c.(3472-3474)gCt>gAt	p.A1158D		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1158										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAACTGGGTAGCATATTGGGG	0.468																																							uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(3472-3474)GCT>GAT		hypothetical protein LOC57481							67.0	61.0	63.0					X																	118221720		1862	4089	5951	SO:0001583	missense	57481							g.chrX:118221720G>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3473C>A	X.37:g.118221720G>T	ENSP00000384670:p.Ala1158Asp						p.A1158D	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	3473	-			1158					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.3473C>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.72|15.72	2.916931|2.916931	0.52546|0.52546	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.12361|.	2.69|.	4.43|4.43	4.43|4.43	0.53597|0.53597	.|.	.|.	.|.	.|.	.|.	T|.	0.21631|.	0.0521|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P|.	0.35982|.	0.531|.	B|.	0.33042|.	0.157|.	T|.	0.13602|.	-1.0503|.	9|.	0.59425|.	D|.	0.04|.	.|.	11.31|11.31	0.49358|0.49358	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1158|.	Q9ULL0|.	K1210_HUMAN|.	D|X	1158|564	ENSP00000384670:A1158D|.	ENSP00000384670:A1158D|.	A|C	-|-	2|3	0|2	RP13-347D8.6|KIAA1210	118105748|118105748	0.004000|0.004000	0.15560|0.15560	0.004000|0.004000	0.12327|0.12327	0.002000|0.002000	0.02628|0.02628	1.527000|1.527000	0.35975|0.35975	2.440000|2.440000	0.82611|0.82611	0.600000|0.600000	0.82982|0.82982	GCT|TGC		0.468	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		39	26	1	0	3.33393e-15	0.004878	5.14358e-15	39	26				
KIAA1210	57481	broad.mit.edu	37	X	118223080	118223080	+	Missense_Mutation	SNP	G	G	T	rs199571562		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:118223080G>T	ENST00000402510.2	-	11	2112	c.2113C>A	c.(2113-2115)Caa>Aaa	p.Q705K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	705										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AAAGCTTCTTGATCTTCTAAC	0.433																																							uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(2113-2115)CAA>AAA		hypothetical protein LOC57481							44.0	43.0	43.0					X																	118223080		1913	4133	6046	SO:0001583	missense	57481							g.chrX:118223080G>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2113C>A	X.37:g.118223080G>T	ENSP00000384670:p.Gln705Lys						p.Q705K	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	2113	-			705					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2113C>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.969|3.969	-0.008672|-0.008672	0.07727|0.07727	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.09073|.	3.02|.	4.42|4.42	0.206|0.206	0.15208|0.15208	.|.	.|.	.|.	.|.	.|.	T|.	0.10165|.	0.0249|.	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.30446|.	-0.9978|.	9|.	0.13108|.	T|.	0.6|.	.|.	4.0487|4.0487	0.09785|0.09785	0.0:0.3808:0.3632:0.2559|0.0:0.3808:0.3632:0.2559	.|.	705|.	Q9ULL0|.	K1210_HUMAN|.	K|X	705|111	ENSP00000384670:Q705K|.	ENSP00000384670:Q705K|.	Q|S	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118107108|118107108	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.034000|0.034000	0.12701|0.12701	-0.529000|-0.529000	0.06186|0.06186	-0.092000|-0.092000	0.12417|0.12417	-0.624000|-0.624000	0.04008|0.04008	CAA|TCA		0.433	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		52	28	1	0	1.27334e-21	0.00361	2.28079e-21	52	28				
GRIA3	2892	broad.mit.edu	37	X	122551485	122551485	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:122551485C>A	ENST00000371251.1	+	11	1785	c.1733C>A	c.(1732-1734)cCt>cAt	p.P578H	GRIA3_ENST00000371256.5_Missense_Mutation_p.P578H|GRIA3_ENST00000542149.1_Missense_Mutation_p.P578H|GRIA3_ENST00000264357.5_Missense_Mutation_p.P578H|GRIA3_ENST00000541091.1_Missense_Mutation_p.P562H			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	578					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)			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)	AGGTTCAGTCCTTATGAATGG	0.418																																							uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1732-1734)CCT>CAT		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						278.0	252.0	261.0					X																	122551485		2203	4300	6503	SO:0001583	missense	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:122551485C>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.1733C>A	X.37:g.122551485C>A	ENSP00000360297:p.Pro578His					GRIA3_uc004etr.3_Missense_Mutation_p.P578H|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.P562H	p.P578H	NM_007325	NP_015564	P42263	GRIA3_HUMAN			12	2026	+			578			Cytoplasmic (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1733C>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473072	0.84640	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.74	5.74	0.90152	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.83252	0.5214	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.88001	0.2756	10	0.87932	D	0	.	17.6917	0.88270	0.0:1.0:0.0:0.0	.	562;578;578	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	H	578;578;578;578;562	ENSP00000264357:P578H;ENSP00000446146:P578H;ENSP00000360302:P578H;ENSP00000360297:P578H;ENSP00000446440:P562H	ENSP00000264357:P578H	P	+	2	0	GRIA3	122379166	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.395000	0.81488	0.600000	0.82982	CCT		0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		102	233	1	0	5.10254e-61	0.00361	1.09099e-60	102	233				
THOC2	57187	broad.mit.edu	37	X	122760512	122760512	+	Splice_Site	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:122760512G>T	ENST00000245838.8	-	24	2790	c.2759C>A	c.(2758-2760)cCc>cAc	p.P920H	THOC2_ENST00000355725.4_Splice_Site_p.P920H|THOC2_ENST00000491737.1_Splice_Site_p.P805H	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	920					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTATTTGGGGGCTACAAAGA	0.338																																							uc004etu.2		NA																	0				ovary(3)	3						c.(2758-2760)CCC>CAC		THO complex 2							77.0	64.0	68.0					X																	122760512		1802	4058	5860	SO:0001630	splice_region_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122760512G>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2758-1C>A	X.37:g.122760512G>T							p.P920H	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			24	2791	-			920			Potential.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.2759C>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466203	0.63625	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	T;T;T	0.41065	1.01;1.01;1.01	5.82	4.96	0.65561	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.55800	0.1943	L	0.47716	1.5	0.80722	D	1	D	0.65815	0.995	D	0.67231	0.95	T	0.55276	-0.8166	10	0.48119	T	0.1	-11.3942	14.1205	0.65184	0.0736:0.0:0.9264:0.0	.	920	Q8NI27	THOC2_HUMAN	H	920;920;805	ENSP00000245838:P920H;ENSP00000347959:P920H;ENSP00000419795:P805H	ENSP00000245838:P920H	P	-	2	0	THOC2	122588193	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.869000	0.99810	1.226000	0.43582	-0.198000	0.12761	CCC		0.338	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		Missense_Mutation	18	36	1	0	3.62473e-10	0.001882	4.82846e-10	18	36				
XIAP	331	broad.mit.edu	37	X	123041011	123041011	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:123041011C>A	ENST00000371199.3	+	7	1773	c.1474C>A	c.(1474-1476)Caa>Aaa	p.Q492K	XIAP_ENST00000434753.3_Missense_Mutation_p.Q492K|XIAP_ENST00000355640.3_Missense_Mutation_p.Q492K|XIAP_ENST00000468691.1_3'UTR	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	492					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TACTTTCAAGCAAAAAATTTT	0.353									X-linked Lymphoproliferative syndrome																														uc010nqu.2		NA																	0				ovary(1)|lung(1)	2						c.(1474-1476)CAA>AAA		baculoviral IAP repeat-containing protein 4							84.0	73.0	77.0					X																	123041011		2203	4300	6503	SO:0001583	missense	331	X-linked_Lymphoproliferative_syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123041011C>A	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1474C>A	X.37:g.123041011C>A	ENSP00000360242:p.Gln492Lys					XIAP_uc004etx.2_Missense_Mutation_p.Q492K|XIAP_uc010nqv.2_Missense_Mutation_p.Q118K	p.Q492K	NM_001167	NP_001158	P98170	XIAP_HUMAN			7	1600	+			492					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.1474C>A	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	c	16.13	3.037090	0.54896	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.28069	1.63;1.63;1.63	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000003	T	0.42404	0.1201	L	0.33093	0.98	0.34614	D	0.717858	D	0.67145	0.996	P	0.61003	0.882	T	0.49234	-0.8961	9	.	.	.	-11.2264	18.062	0.89380	0.0:1.0:0.0:0.0	.	492	P98170	XIAP_HUMAN	K	492	ENSP00000395230:Q492K;ENSP00000360242:Q492K;ENSP00000347858:Q492K	.	Q	+	1	0	XIAP	122868692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.568000	0.67385	2.302000	0.77476	0.538000	0.68166	CAA		0.353	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		18	13	1	0	6.94344e-10	0.006122	9.1297e-10	18	13				
TENM1	10178	broad.mit.edu	37	X	123554363	123554363	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:123554363C>A	ENST00000371130.3	-	24	4822	c.4759G>T	c.(4759-4761)Gtg>Ttg	p.V1587L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.V1594L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1587					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGAATGTGCACTGAATTGCCA	0.493																																							uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4759-4761)GTG>TTG		odz, odd Oz/ten-m homolog 1 isoform 3							107.0	76.0	87.0					X																	123554363		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123554363C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4759G>T	X.37:g.123554363C>A	ENSP00000360171:p.Val1587Leu					ODZ1_uc011muj.1_Missense_Mutation_p.V1593L|ODZ1_uc010nqy.2_Missense_Mutation_p.V1594L	p.V1587L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			24	4823	-			1587			YD 2.|Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4759G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190677	0.38707	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85955	-2.05;-1.98	5.33	5.33	0.75918	Six-bladed beta-propeller, TolB-like (1);	0.229187	0.37012	N	0.002282	T	0.77032	0.4071	N	0.25890	0.77	0.42668	D	0.993501	B;B;B	0.13145	0.007;0.007;0.006	B;B;B	0.10450	0.004;0.004;0.005	T	0.72010	-0.4419	10	0.10636	T	0.68	.	18.155	0.89688	0.0:1.0:0.0:0.0	.	1593;1594;1587	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	1587;1594	ENSP00000360171:V1587L;ENSP00000403954:V1594L	ENSP00000360171:V1587L	V	-	1	0	ODZ1	123382044	0.999000	0.42202	0.985000	0.45067	0.913000	0.54294	4.051000	0.57412	2.224000	0.72417	0.513000	0.50165	GTG		0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		21	42	1	0	0.000132079	0.008871	0.000145686	21	42				
SMARCA1	6594	broad.mit.edu	37	X	128624153	128624153	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:128624153A>C	ENST00000371122.4	-	15	1961	c.1832T>G	c.(1831-1833)aTt>aGt	p.I611S	SMARCA1_ENST00000371123.1_Missense_Mutation_p.I599S|SMARCA1_ENST00000371121.3_Missense_Mutation_p.I599S	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	611	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTTCTGACCAATACGATGTGC	0.353																																							uc004eun.3		NA																	0				ovary(3)|skin(1)	4						c.(1831-1833)ATT>AGT		SWI/SNF-related matrix-associated							126.0	104.0	112.0					X																	128624153		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128624153A>C	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1832T>G	X.37:g.128624153A>C	ENSP00000360163:p.Ile611Ser					SMARCA1_uc004eup.3_Missense_Mutation_p.I599S|SMARCA1_uc011muk.1_Missense_Mutation_p.I611S|SMARCA1_uc011mul.1_Missense_Mutation_p.I599S	p.I611S	NM_003069	NP_003060	P28370	SMCA1_HUMAN			15	1945	-			611			Helicase C-terminal.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1832T>G	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.285508	0.80803	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73	5.29	5.29	0.74685	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000003	D	0.97451	0.9166	M	0.79258	2.445	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	D	0.98175	1.0454	10	0.87932	D	0	-14.6506	14.4918	0.67657	1.0:0.0:0.0:0.0	.	590;611;599;611	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	S	599;599;611;590	ENSP00000360162:I599S;ENSP00000360164:I599S;ENSP00000360163:I611S;ENSP00000404275:I590S	ENSP00000360162:I599S	I	-	2	0	SMARCA1	128451834	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	1.871000	0.54225	0.376000	0.23039	ATT		0.353	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		40	15	0	0	0	0.006999	0	40	15				
SMARCA1	6594	broad.mit.edu	37	X	128652416	128652416	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:128652416A>G	ENST00000371122.4	-	2	312	c.183T>C	c.(181-183)gtT>gtC	p.V61V	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Silent_p.V61V|SMARCA1_ENST00000371121.3_Silent_p.V61V	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	61					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GAAATGAAGAAACGTTTTTCT	0.348																																							uc004eun.3		NA																	0				ovary(3)|skin(1)	4						c.(181-183)GTT>GTC		SWI/SNF-related matrix-associated							79.0	69.0	72.0					X																	128652416		2202	4295	6497	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128652416A>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.183T>C	X.37:g.128652416A>G						SMARCA1_uc004eup.3_Silent_p.V61V|SMARCA1_uc011muk.1_Silent_p.V61V|SMARCA1_uc011mul.1_Silent_p.V61V	p.V61V	NM_003069	NP_003060	P28370	SMCA1_HUMAN			2	296	-			61					Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.183T>C	CCDS14612.1																																																																																				0.348	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		28	18	0	0	0	0.005443	0	28	18				
SMARCA1	6594	broad.mit.edu	37	X	128657242	128657242	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:128657242C>T	ENST00000371122.4	-	1	235	c.106G>A	c.(106-108)Gag>Aag	p.E36K	SMARCA1_ENST00000478420.1_5'Flank|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E36K|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E36K	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	36					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GCTCCCTCCTCCTGAGAGGTG	0.677																																							uc004eun.3		NA																	0				ovary(3)|skin(1)	4						c.(106-108)GAG>AAG		SWI/SNF-related matrix-associated							113.0	98.0	103.0					X																	128657242		2200	4298	6498	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128657242C>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.106G>A	X.37:g.128657242C>T	ENSP00000360163:p.Glu36Lys					SMARCA1_uc004eup.3_Missense_Mutation_p.E36K|SMARCA1_uc011muk.1_Missense_Mutation_p.E36K|SMARCA1_uc011mul.1_Missense_Mutation_p.E36K	p.E36K	NM_003069	NP_003060	P28370	SMCA1_HUMAN			1	219	-			36					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.106G>A	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.553624	0.27739	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91631	-2.76;-2.76;-2.75;-2.88	3.15	3.15	0.36227	.	.	.	.	.	D	0.86573	0.5965	N	0.19112	0.55	0.31425	N	0.673873	B;P;P;P	0.37398	0.011;0.458;0.593;0.458	B;B;P;B	0.45577	0.007;0.292;0.486;0.292	T	0.81737	-0.0796	9	0.12430	T	0.62	-8.717	9.0977	0.36649	0.0:1.0:0.0:0.0	.	36;36;36;36	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	K	36	ENSP00000360162:E36K;ENSP00000360164:E36K;ENSP00000360163:E36K;ENSP00000404275:E36K	ENSP00000360162:E36K	E	-	1	0	SMARCA1	128484923	0.994000	0.37717	1.000000	0.80357	0.978000	0.69477	2.929000	0.48916	1.577000	0.49804	0.472000	0.43445	GAG		0.677	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		34	105	0	0	0	0.002445	0	34	105				
ZDHHC9	51114	broad.mit.edu	37	X	128957772	128957772	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:128957772G>T	ENST00000357166.6	-	5	761	c.370C>A	c.(370-372)Cct>Act	p.P124T	AL359542.1_ENST00000582964.1_RNA|ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P124T|ZDHHC9_ENST00000491039.1_5'Flank	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	124					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TTGATACGAGGCGGTGGTCGC	0.483																																							uc004euv.2		NA																	0				ovary(1)	1						c.(370-372)CCT>ACT		zinc finger, DHHC domain containing 9							136.0	135.0	135.0					X																	128957772		2203	4300	6503	SO:0001583	missense	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128957772G>T	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.370C>A	X.37:g.128957772G>T	ENSP00000349689:p.Pro124Thr					ZDHHC9_uc004euw.2_Missense_Mutation_p.P124T|ZDHHC9_uc004eux.1_Missense_Mutation_p.P124T|ZDHHC9_uc004euy.1_Missense_Mutation_p.P51T	p.P124T	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN			4	739	-			124			Cytoplasmic (Potential).		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	c.370C>A	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.579749	0.86645	.	.	ENSG00000188706	ENST00000357166;ENST00000371064;ENST00000406492	T;T;T	0.23348	1.91;1.91;1.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.90145	3.09	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.69030	-0.5253	10	0.66056	D	0.02	-8.0368	18.3342	0.90282	0.0:0.0:1.0:0.0	.	124	Q9Y397	ZDHC9_HUMAN	T	124	ENSP00000349689:P124T;ENSP00000360103:P124T;ENSP00000383991:P124T	ENSP00000349689:P124T	P	-	1	0	ZDHHC9	128785453	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.369000	0.73109	2.369000	0.80426	0.597000	0.82753	CCT		0.483	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		71	71	1	0	2.28164e-27	0.00361	4.40252e-27	71	71				
UTP14A	10813	broad.mit.edu	37	X	129055513	129055513	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:129055513G>T	ENST00000394422.3	+	11	1326	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	UTP14A_ENST00000425117.2_Missense_Mutation_p.R381I|UTP14A_ENST00000371042.3_Missense_Mutation_p.R265I|UTP14A_ENST00000371051.5_Missense_Mutation_p.R379I|UTP14A_ENST00000498179.1_3'UTR|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	433					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CTTAGAAAAAGATCTGAGCTC	0.463																																							uc004euz.2		NA																	0				ovary(2)	2						c.(1297-1299)AGA>ATA		UTP14, U3 small nucleolar ribonucleoprotein,							44.0	43.0	43.0					X																	129055513		2201	4299	6500	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129055513G>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1298G>T	X.37:g.129055513G>T	ENSP00000377944:p.Arg433Ile					UTP14A_uc011mup.1_Missense_Mutation_p.R381I|UTP14A_uc011muq.1_Missense_Mutation_p.R379I|UTP14A_uc004eva.1_Missense_Mutation_p.R139I	p.R433I	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			11	1326	+			433					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1298G>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	g	9.040	0.989379	0.18966	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.36	2.43	0.29744	.	0.840312	0.11170	N	0.592125	T	0.17874	0.0429	L	0.55103	1.725	0.09310	N	1	P;P;P;P	0.42961	0.795;0.548;0.548;0.731	B;B;B;B	0.44044	0.312;0.439;0.439;0.439	T	0.16247	-1.0409	10	0.39692	T	0.17	-6.9685	3.5599	0.07878	0.4577:0.0:0.3626:0.1797	.	379;381;381;433	F8WD00;E9PEL7;B4DQ08;Q9BVJ6	.;.;.;UT14A_HUMAN	I	381;433;379;265;265	ENSP00000388669:R381I;ENSP00000377944:R433I;ENSP00000360090:R379I;ENSP00000413187:R265I;ENSP00000360081:R265I	ENSP00000360081:R265I	R	+	2	0	UTP14A	128883194	0.399000	0.25287	0.002000	0.10522	0.009000	0.06853	0.794000	0.26958	0.168000	0.19655	-0.240000	0.12126	AGA		0.463	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		22	23	1	0	2.89027e-11	0.002299	4.02321e-11	22	23				
AIFM1	9131	broad.mit.edu	37	X	129281788	129281788	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:129281788C>A	ENST00000287295.3	-	4	643	c.413G>T	c.(412-414)gGt>gTt	p.G138V	AIFM1_ENST00000319908.3_Missense_Mutation_p.G134V|AIFM1_ENST00000535724.1_Missense_Mutation_p.G51V|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	138	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TGTGCCTCCACCAATTAGCAG	0.517																																							uc004evg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(412-414)GGT>GTT		programmed cell death 8 isoform 1							145.0	129.0	135.0					X																	129281788		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129281788C>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.413G>T	X.37:g.129281788C>A	ENSP00000287295:p.Gly138Val					AIFM1_uc011mus.1_Missense_Mutation_p.G138V|AIFM1_uc004evh.2_Missense_Mutation_p.G134V|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	p.G138V	NM_004208	NP_004199	O95831	AIFM1_HUMAN			4	591	-			138			FAD.|FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.413G>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561723	0.45590	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	D;D;D	0.98012	-4.66;-4.66;-4.66	5.55	4.69	0.59074	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.047212	0.85682	D	0.000000	D	0.99171	0.9713	H	0.97635	4.045	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	0.98760	1.0724	10	0.87932	D	0	-10.3786	13.6446	0.62275	0.0:0.9237:0.0:0.0763	.	138;134;138	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	V	134;51;138	ENSP00000315122:G134V;ENSP00000446113:G51V;ENSP00000287295:G138V	ENSP00000287295:G138V	G	-	2	0	AIFM1	129109469	1.000000	0.71417	0.255000	0.24374	0.054000	0.15201	5.697000	0.68295	1.110000	0.41699	-0.296000	0.09543	GGT		0.517	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			100	73	1	0	1.90545e-35	0.00361	3.89851e-35	100	73				
SLC25A14	9016	broad.mit.edu	37	X	129506898	129506898	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:129506898G>T	ENST00000218197.5	+	10	1179	c.952G>T	c.(952-954)Gag>Tag	p.E318*	SLC25A14_ENST00000361980.5_Nonsense_Mutation_p.E315*|SLC25A14_ENST00000339231.3_Nonsense_Mutation_p.E346*	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	318					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TATTACATACGAGCAGCTAAA	0.393																																							uc004evn.1		NA																	0				ovary(1)	1						c.(952-954)GAG>TAG		solute carrier family 25, member 14 isoform							223.0	218.0	220.0					X																	129506898		2203	4300	6503	SO:0001587	stop_gained	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129506898G>T	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.952G>T	X.37:g.129506898G>T	ENSP00000218197:p.Glu318*					SLC25A14_uc004evo.1_Nonsense_Mutation_p.E139*|SLC25A14_uc004evp.1_Nonsense_Mutation_p.E318*|SLC25A14_uc004evq.1_Nonsense_Mutation_p.E315*|SLC25A14_uc004evr.1_Nonsense_Mutation_p.E346*	p.E318*	NM_003951	NP_003942	O95258	UCP5_HUMAN			11	1165	+			318			Solcar 3.		D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Nonsense_Mutation	SNP	ENST00000218197.5	37	c.952G>T	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973859	0.74246	.	.	ENSG00000102078	ENST00000218197;ENST00000361980;ENST00000339231	.	.	.	4.06	4.06	0.47325	.	0.060548	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.3591	12.5541	0.56244	0.0:0.0:1.0:0.0	.	.	.	.	X	318;315;346	.	ENSP00000218197:E318X	E	+	1	0	SLC25A14	129334579	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	7.665000	0.83852	2.002000	0.58637	0.600000	0.82982	GAG		0.393	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		165	130	1	0	2.18507e-80	0.00361	4.73598e-80	165	130				
STK26	51765	broad.mit.edu	37	X	131202555	131202555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:131202555G>A	ENST00000354719.6	+	6	771	c.555G>A	c.(553-555)tgG>tgA	p.W185*	MST4_ENST00000394335.2_Nonsense_Mutation_p.W108*|MST4_ENST00000394334.2_Nonsense_Mutation_p.W185*|MST4_ENST00000481105.1_Nonsense_Mutation_p.W207*|MST4_ENST00000496850.1_Nonsense_Mutation_p.W185*																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTCCATTTTGGATGGCTCCTG	0.368																																							uc004ewk.1		NA																	0				ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9						c.(553-555)TGG>TGA		serine/threonine protein kinase MST4 isoform 1							74.0	75.0	74.0					X																	131202555		2203	4300	6503	SO:0001587	stop_gained	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131202555G>A																												ENST00000354719.6:c.555G>A	X.37:g.131202555G>A	ENSP00000346755:p.Trp185*					MST4_uc004ewl.1_Nonsense_Mutation_p.W108*|MST4_uc011mux.1_Nonsense_Mutation_p.W207*|MST4_uc010nrj.1_Nonsense_Mutation_p.W185*|MST4_uc004ewm.1_Nonsense_Mutation_p.W185*	p.W185*	NM_016542	NP_057626	Q9P289	MST4_HUMAN			6	856	+	Acute lymphoblastic leukemia(192;0.000127)		185			Protein kinase.			Nonsense_Mutation	SNP	ENST00000354719.6	37	c.555G>A		.	.	.	.	.	.	.	.	.	.	G	38	6.868064	0.97897	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9063	0.92462	0.0:0.0:1.0:0.0	.	.	.	.	X	185;207;185;108;185	.	ENSP00000346755:W185X	W	+	3	0	AL109749.1	131030236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.413000	0.81919	0.600000	0.82982	TGG		0.368	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			35	70	0	0	0	0.006999	0	35	70				
FRMD7	90167	broad.mit.edu	37	X	131212529	131212529	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:131212529G>T	ENST00000298542.4	-	12	1691	c.1516C>A	c.(1516-1518)Ccc>Acc	p.P506T	FRMD7_ENST00000464296.1_Missense_Mutation_p.P491T|FRMD7_ENST00000370879.1_Missense_Mutation_p.P386T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	506					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GACCATCTGGGCACCTGGGGT	0.493																																							uc004ewn.2		NA																	0				skin(1)	1						c.(1516-1518)CCC>ACC		FERM domain containing 7							124.0	121.0	122.0					X																	131212529		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212529G>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1516C>A	X.37:g.131212529G>T	ENSP00000298542:p.Pro506Thr					FRMD7_uc011muy.1_Missense_Mutation_p.P491T	p.P506T	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			12	1694	-	Acute lymphoblastic leukemia(192;0.000127)		506					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1516C>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	5.202	0.222812	0.09863	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.88975	-2.45;-2.07;-2.17	5.27	3.46	0.39613	.	0.369326	0.26345	N	0.024916	D	0.85613	0.5737	M	0.68593	2.085	0.30776	N	0.742548	B;B	0.16603	0.018;0.005	B;B	0.20767	0.031;0.01	T	0.80507	-0.1352	10	0.59425	D	0.04	.	5.9972	0.19501	0.076:0.1317:0.6532:0.1391	.	491;506	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	T	386;506;491	ENSP00000359916:P386T;ENSP00000298542:P506T;ENSP00000417996:P491T	ENSP00000298542:P506T	P	-	1	0	FRMD7	131040210	1.000000	0.71417	0.992000	0.48379	0.196000	0.23810	4.141000	0.58038	0.417000	0.25871	-0.208000	0.12717	CCC		0.493	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		66	169	1	0	9.61844e-40	0.00361	1.9966e-39	66	169				
MBNL3	55796	broad.mit.edu	37	X	131526362	131526362	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:131526362C>A	ENST00000370853.3	-	3	421	c.343G>T	c.(343-345)Ggt>Tgt	p.G115C	MBNL3_ENST00000370839.3_Splice_Site_p.G115C|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000394311.2_Splice_Site_p.G19C|MBNL3_ENST00000370857.3_Splice_Site_p.G115C|MBNL3_ENST00000370844.1_Splice_Site_p.G19C|MBNL3_ENST00000538204.1_Splice_Site_p.G65C|MBNL3_ENST00000370849.3_Splice_Site_p.G65C|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000473364.1_5'UTR	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	115					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GGAAAAGAACCCTGTATGTTT	0.388																																							uc004ewv.3		NA																	0					0						c.(343-345)GGT>TGT		muscleblind-like 3 isoform G							75.0	70.0	72.0					X																	131526362		2203	4300	6503	SO:0001630	splice_region_variant	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131526362C>A	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.343-1G>T	X.37:g.131526362C>A						uc004ewr.1_Intron|MBNL3_uc004eww.2_Missense_Mutation_p.G19C|MBNL3_uc004ews.2_Missense_Mutation_p.G19C|MBNL3_uc004ewt.2_Missense_Mutation_p.G65C|MBNL3_uc011muz.1_Missense_Mutation_p.G19C|MBNL3_uc004ewu.3_Missense_Mutation_p.G115C|MBNL3_uc004ewx.1_Missense_Mutation_p.G65C	p.G115C	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN			3	422	-	Acute lymphoblastic leukemia(192;0.000127)		115					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.343G>T	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517040	0.27123	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.33	-1.26	0.09376	.	0.769691	0.12091	N	0.500457	T	0.30417	0.0764	N	0.03608	-0.345	0.22511	N	0.999039	P;P;P;P;B	0.35894	0.526;0.508;0.508;0.508;0.415	P;P;P;P;B	0.49140	0.556;0.473;0.547;0.601;0.247	T	0.47086	-0.9144	10	0.72032	D	0.01	1.0657	10.3054	0.43678	0.0:0.2068:0.0:0.7932	.	65;115;115;65;19	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	C	19;65;115;115;65;115;19;19;19	ENSP00000377848:G19C;ENSP00000439618:G65C;ENSP00000359894:G115C;ENSP00000359890:G115C;ENSP00000359886:G65C;ENSP00000359876:G115C;ENSP00000359881:G19C;ENSP00000406014:G19C;ENSP00000402128:G19C	ENSP00000359876:G115C	G	-	1	0	MBNL3	131354043	0.274000	0.24191	0.016000	0.15963	0.234000	0.25298	-0.200000	0.09478	-0.663000	0.05331	-0.306000	0.09157	GGT		0.388	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388	Missense_Mutation	16	21	1	0	2.23348e-06	0.004007	2.62416e-06	16	21				
SAGE1	55511	broad.mit.edu	37	X	134993903	134993903	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:134993903G>T	ENST00000370709.3	+	17	2312	c.2312G>T	c.(2311-2313)aGc>aTc	p.S771I	SAGE1_ENST00000537770.1_Missense_Mutation_p.S395I|SAGE1_ENST00000324447.3_Missense_Mutation_p.S771I|SAGE1_ENST00000535938.1_Missense_Mutation_p.S771I			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	771						nucleus (GO:0005634)				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)					ACAAGTCTCAGCAAAGATGAG	0.423																																							uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(2311-2313)AGC>ATC		sarcoma antigen 1							159.0	151.0	154.0					X																	134993903		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134993903G>T	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.2312G>T	X.37:g.134993903G>T	ENSP00000359743:p.Ser771Ile					SAGE1_uc010nry.1_Missense_Mutation_p.S740I|SAGE1_uc011mvv.1_Missense_Mutation_p.S395I	p.S771I	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			18	2479	+	Acute lymphoblastic leukemia(192;0.000127)		771					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2312G>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.436967	0.25900	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.37411	1.2;1.2;1.24;1.2	2.67	1.78	0.24846	.	0.744085	0.13166	U	0.408703	T	0.46151	0.1378	L	0.54323	1.7	0.09310	N	1	D;D	0.62365	0.958;0.991	P;P	0.58130	0.538;0.833	T	0.29119	-1.0022	10	0.72032	D	0.01	.	8.3253	0.32153	0.1308:0.0:0.8692:0.0	.	395;771	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	I	771;771;395;771	ENSP00000323191:S771I;ENSP00000445959:S771I;ENSP00000438276:S395I;ENSP00000359743:S771I	ENSP00000323191:S771I	S	+	2	0	SAGE1	134821569	0.000000	0.05858	0.001000	0.08648	0.278000	0.26855	0.433000	0.21477	0.135000	0.18707	0.179000	0.17066	AGC		0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		63	160	1	0	1.12357e-39	0.00361	2.32892e-39	63	160				
MAP7D3	79649	broad.mit.edu	37	X	135322608	135322608	+	Silent	SNP	C	C	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:135322608C>T	ENST00000316077.9	-	6	793	c.573G>A	c.(571-573)caG>caA	p.Q191Q	MAP7D3_ENST00000370663.5_Silent_p.Q173Q|MAP7D3_ENST00000370661.1_Intron	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	191					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CAGAAGTACCCTGTTCAAGTT	0.338																																							uc004ezt.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(571-573)CAG>CAA		MAP7 domain containing 3							110.0	97.0	101.0					X																	135322608		1828	4073	5901	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135322608C>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.573G>A	X.37:g.135322608C>T						MAP7D3_uc004ezs.2_Intron|MAP7D3_uc011mwc.1_Silent_p.Q173Q|MAP7D3_uc010nsa.1_Silent_p.Q190Q	p.Q191Q	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			6	664	-	Acute lymphoblastic leukemia(192;0.000127)		191					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.573G>A	CCDS44004.1																																																																																				0.338	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			43	34	0	0	0	0.003214	0	43	34				
MAP7D3	79649	broad.mit.edu	37	X	135323319	135323319	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:135323319C>A	ENST00000316077.9	-	5	755	c.535G>T	c.(535-537)Gcc>Tcc	p.A179S	MAP7D3_ENST00000370663.5_Splice_Site_p.A161S|MAP7D3_ENST00000370661.1_Splice_Site_p.G179W	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	179					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TATTAATTACCAGTTTTGCTC	0.358																																							uc004ezt.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(535-537)GCC>TCC		MAP7 domain containing 3							61.0	56.0	58.0					X																	135323319		1843	4095	5938	SO:0001630	splice_region_variant	79649					cytoplasm|spindle		g.chrX:135323319C>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.535+1G>T	X.37:g.135323319C>A						MAP7D3_uc004ezs.2_Missense_Mutation_p.G178W|MAP7D3_uc011mwc.1_Missense_Mutation_p.A161S|MAP7D3_uc010nsa.1_Missense_Mutation_p.A178S	p.A179S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			5	626	-	Acute lymphoblastic leukemia(192;0.000127)		179					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.535G>T	CCDS44004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.971|9.971	1.225478|1.225478	0.22457|0.22457	.|.	.|.	ENSG00000129680|ENSG00000129680	ENST00000316077;ENST00000370663;ENST00000370660|ENST00000370661	T;T;T|T	0.08458|0.08102	3.09;3.09;3.09|3.13	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|.	.|.	.|.	.|.	T|T	0.10766|0.10766	0.0263|0.0263	L|L	0.39898|0.39898	1.24|1.24	0.28321|0.28321	N|N	0.92223|0.92223	B;B;B|P	0.19200|0.48911	0.02;0.034;0.025|0.917	B;B;B|B	0.21708|0.43018	0.016;0.036;0.022|0.405	T|T	0.08330|0.08330	-1.0727|-1.0727	8|8	.|.	.|.	.|.	1.0902|1.0902	16.2204|16.2204	0.82255|0.82255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	161;179;179|179	B4DWD2;Q8IWC1-2;Q8IWC1|Q8IWC1-3	.;.;MA7D3_HUMAN|.	S|W	179;161;179|179	ENSP00000318086:A179S;ENSP00000359697:A161S;ENSP00000359694:A179S|ENSP00000359695:G179W	.|.	A|G	-|-	1|1	0|0	MAP7D3|MAP7D3	135150985|135150985	0.997000|0.997000	0.39634|0.39634	0.896000|0.896000	0.35187|0.35187	0.106000|0.106000	0.19336|0.19336	4.565000|4.565000	0.60836|0.60836	2.132000|2.132000	0.65825|0.65825	0.538000|0.538000	0.68166|0.68166	GCC|GGG		0.358	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		Missense_Mutation	32	31	1	0	2.08457e-15	0.002096	3.2371e-15	32	31				
GPR112	139378	broad.mit.edu	37	X	135431007	135431007	+	Silent	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:135431007T>A	ENST00000394143.1	+	6	5433	c.5142T>A	c.(5140-5142)acT>acA	p.T1714T	GPR112_ENST00000370652.1_Silent_p.T1714T|GPR112_ENST00000287534.4_Silent_p.T1651T|GPR112_ENST00000394141.1_Silent_p.T1509T|GPR112_ENST00000412101.1_Silent_p.T1509T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1714					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(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)					AGGCTACAACTTTGGGCATAT	0.433																																							uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5140-5142)ACT>ACA		G-protein coupled receptor 112							135.0	124.0	128.0					X																	135431007		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431007T>A	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	ENST00000394143.1:c.5142T>A	X.37:g.135431007T>A						GPR112_uc010nsb.1_Silent_p.T1509T|GPR112_uc010nsc.1_Silent_p.T1481T	p.T1714T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5433	+	Acute lymphoblastic leukemia(192;0.000127)		1714			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.5142T>A	CCDS35409.1																																																																																				0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			88	59	0	0	0	0.00361	0	88	59				
BRS3	680	broad.mit.edu	37	X	135572419	135572419	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:135572419G>A	ENST00000370648.3	+	2	790	c.562G>A	c.(562-564)Gta>Ata	p.V188I	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	188					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCAAATGTATACACTTT	0.408																																							uc004ezv.1		NA																	0				ovary(1)	1						c.(562-564)GTA>ATA		bombesin-like receptor 3							92.0	86.0	88.0					X																	135572419		2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135572419G>A		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.562G>A	X.37:g.135572419G>A	ENSP00000359682:p.Val188Ile						p.V188I	NM_001727	NP_001718	P32247	BRS3_HUMAN			2	711	+	Acute lymphoblastic leukemia(192;0.000127)		188			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000370648.3	37	c.562G>A	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789515	0.31685	.	.	ENSG00000102239	ENST00000370648	T	0.72394	-0.65	5.14	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.205867	0.33235	N	0.005128	T	0.65873	0.2733	L	0.42245	1.32	0.29982	N	0.81759	P	0.41159	0.74	P	0.50440	0.641	T	0.58901	-0.7554	10	0.09338	T	0.73	-10.7186	7.8699	0.29561	0.0:0.2162:0.5318:0.252	.	188	P32247	BRS3_HUMAN	I	188	ENSP00000359682:V188I	ENSP00000359682:V188I	V	+	1	0	BRS3	135400085	1.000000	0.71417	0.822000	0.32727	0.091000	0.18340	1.871000	0.39539	2.249000	0.74217	0.594000	0.82650	GTA		0.408	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		47	31	0	0	0	0.003214	0	47	31				
FGF13	2258	broad.mit.edu	37	X	137715101	137715101	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:137715101G>T	ENST00000315930.6	-	5	1309	c.648C>A	c.(646-648)tcC>tcA	p.S216S	FGF13_ENST00000441825.2_Silent_p.S197S|FGF13_ENST00000305414.4_Silent_p.S163S|FGF13_ENST00000370603.3_Silent_p.S226S|FGF13_ENST00000541469.1_Silent_p.S170S	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	216					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGATCGGGAGAACTCCG	0.517																																							uc004fam.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(646-648)TCC>TCA		fibroblast growth factor 13 isoform 1							146.0	114.0	125.0					X																	137715101		2203	4300	6503	SO:0001819	synonymous_variant	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137715101G>T	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.648C>A	X.37:g.137715101G>T						FGF13_uc004fan.2_Silent_p.S163S|FGF13_uc011mwi.1_Silent_p.S197S|FGF13_uc004faq.2_Silent_p.S226S|FGF13_uc004far.2_Silent_p.S197S|FGF13_uc011mwj.1_Silent_p.S226S|FGF13_uc011mwk.1_Silent_p.S170S	p.S216S	NM_004114	NP_004105	Q92913	FGF13_HUMAN			5	1310	-	Acute lymphoblastic leukemia(192;0.000127)		216					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000315930.6	37	c.648C>A	CCDS14665.1																																																																																				0.517	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		27	85	1	0	2.12542e-12	0.00632	3.06025e-12	27	85				
FGF13	2258	broad.mit.edu	37	X	137939743	137939743	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:137939743C>G	ENST00000441825.2	-	1	98	c.61G>C	c.(61-63)Gct>Cct	p.A21P	FGF13_ENST00000370603.3_Missense_Mutation_p.A50P|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TGACACTTAGCACGAAAGGGG	0.488																																							uc004faq.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(148-150)GCT>CCT		fibroblast growth factor 13 isoform 3							224.0	191.0	201.0					X																	137939743		1568	3582	5150	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137939743C>G	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000441825.2:c.61G>C	X.37:g.137939743C>G	ENSP00000409276:p.Ala21Pro					FGF13_uc011mwi.1_Missense_Mutation_p.A21P|FGF13_uc004far.2_Missense_Mutation_p.A21P|FGF13_uc011mwj.1_Missense_Mutation_p.A50P|FGF13_uc011mwk.1_Intron	p.A50P	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN			2	324	-	Acute lymphoblastic leukemia(192;0.000127)		Error:Variant_position_missing_in_Q92913_after_alignment					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000441825.2	37	c.148G>C	CCDS55511.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986104	0.74589	.	.	ENSG00000129682	ENST00000441825;ENST00000370603;ENST00000436198;ENST00000455663;ENST00000448673;ENST00000421460	D;D;D;D	0.83419	-1.59;-1.55;-1.5;-1.72	6.07	6.07	0.98685	.	1.641840	0.02685	N	0.110024	D	0.85995	0.5827	N	0.08118	0	0.47819	D	0.999526	D	0.71674	0.998	D	0.73708	0.981	T	0.74441	-0.3664	10	0.30854	T	0.27	.	18.3442	0.90315	0.0:1.0:0.0:0.0	.	50	B7Z4M7	.	P	21;50;50;56;50;21	ENSP00000409276:A21P;ENSP00000359635:A50P;ENSP00000396198:A50P;ENSP00000406916:A56P	ENSP00000359635:A50P	A	-	1	0	FGF13	137767409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.598000	0.67585	2.557000	0.86248	0.594000	0.82650	GCT		0.488	FGF13-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_004114		55	115	0	0	0	0.00361	0	55	115				
MCF2	4168	broad.mit.edu	37	X	138679702	138679702	+	Silent	SNP	A	A	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:138679702A>G	ENST00000370576.4	-	18	2181	c.1972T>C	c.(1972-1974)Ttg>Ctg	p.L658L	MCF2_ENST00000370573.4_Silent_p.L658L|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370578.4_Silent_p.L803L|MCF2_ENST00000536274.1_Silent_p.L619L|MCF2_ENST00000338585.6_Silent_p.L674L|MCF2_ENST00000414978.1_Silent_p.L718L|MCF2_ENST00000519895.1_Silent_p.L734L|MCF2_ENST00000520602.1_Silent_p.L718L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	658	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCCTTCTTCAACAGAGCAGAT	0.323																																							uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(1972-1974)TTG>CTG		MCF.2 cell line derived transforming sequence							110.0	92.0	98.0					X																	138679702		2203	4297	6500	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138679702A>G		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1972T>C	X.37:g.138679702A>G						MCF2_uc004fav.2_Silent_p.L674L|MCF2_uc011mwl.1_Silent_p.L635L|MCF2_uc010nsh.1_Silent_p.L658L|MCF2_uc011mwm.1_Silent_p.L619L|MCF2_uc011mwn.1_Silent_p.L803L|MCF2_uc004faw.2_Silent_p.L718L|MCF2_uc011mwo.1_Silent_p.L734L	p.L658L	NM_005369	NP_005360	P10911	MCF2_HUMAN			18	2266	-	Acute lymphoblastic leukemia(192;0.000127)		658			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.1972T>C	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	A	0.587	-0.834481	0.02713	.	.	ENSG00000101977	ENST00000437564	.	.	.	5.69	4.33	0.51752	.	.	.	.	.	T	0.57080	0.2029	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55250	-0.8170	4	.	.	.	.	7.5547	0.27817	0.8433:0.0:0.1567:0.0	.	.	.	.	A	161	.	.	V	-	2	0	MCF2	138507368	0.999000	0.42202	0.865000	0.33974	0.095000	0.18619	3.529000	0.53532	1.915000	0.55452	0.486000	0.48141	GTT		0.323	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		44	30	0	0	0	0.00361	0	44	30				
MCF2	4168	broad.mit.edu	37	X	138708385	138708385	+	Silent	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:138708385C>A	ENST00000370576.4	-	6	863	c.654G>T	c.(652-654)ctG>ctT	p.L218L	MCF2_ENST00000370573.4_Silent_p.L218L|MCF2_ENST00000370578.4_Silent_p.L363L|MCF2_ENST00000536274.1_Silent_p.L179L|MCF2_ENST00000338585.6_Silent_p.L218L|MCF2_ENST00000414978.1_Silent_p.L278L|MCF2_ENST00000519895.1_Silent_p.L278L|MCF2_ENST00000520602.1_Silent_p.L278L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	218					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCCATAGTTGCAGATACTGCT	0.338																																							uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(652-654)CTG>CTT		MCF.2 cell line derived transforming sequence							95.0	91.0	93.0					X																	138708385		2202	4299	6501	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138708385C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.654G>T	X.37:g.138708385C>A						MCF2_uc004fav.2_Silent_p.L218L|MCF2_uc011mwl.1_Silent_p.L179L|MCF2_uc010nsh.1_Silent_p.L218L|MCF2_uc011mwm.1_Silent_p.L179L|MCF2_uc011mwn.1_Silent_p.L363L|MCF2_uc004faw.2_Silent_p.L278L|MCF2_uc011mwo.1_Silent_p.L278L	p.L218L	NM_005369	NP_005360	P10911	MCF2_HUMAN			6	948	-	Acute lymphoblastic leukemia(192;0.000127)		218					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.654G>T	CCDS14667.1																																																																																				0.338	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		49	35	1	0	3.21987e-24	0.00361	5.98577e-24	49	35				
CXorf66	347487	broad.mit.edu	37	X	139038471	139038471	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:139038471C>G	ENST00000370540.1	-	3	693	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	224						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTGAGATTTCATTTTGTGGA	0.443																																							uc004fbb.2		NA																	0					0						c.(670-672)GAA>CAA		hypothetical protein LOC347487 precursor							157.0	141.0	146.0					X																	139038471		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038471C>G		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.670G>C	X.37:g.139038471C>G	ENSP00000359571:p.Glu224Gln						p.E224Q	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	692	-			224			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370540.1	37	c.670G>C	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	C	2.270	-0.367103	0.05069	.	.	ENSG00000203933	ENST00000370540	T	0.38722	1.12	4.2	-4.03	0.04021	.	3.902110	0.00582	N	0.000335	T	0.19248	0.0462	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.15464	-1.0436	9	.	.	.	-0.0988	8.0142	0.30372	0.0:0.3434:0.2126:0.444	.	224	Q5JRM2	CX066_HUMAN	Q	224	ENSP00000359571:E224Q	.	E	-	1	0	CXorf66	138866137	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.056000	0.11787	-1.180000	0.02734	-1.093000	0.02169	GAA		0.443	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		94	62	0	0	0	0.00361	0	94	62				
LDOC1	23641	broad.mit.edu	37	X	140271183	140271183	+	Silent	SNP	C	C	A	rs200888138		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:140271183C>A	ENST00000370526.2	-	1	127	c.24G>T	c.(22-24)ctG>ctT	p.L8L	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	8					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GCGCGTGCAGCAGCAGCACCA	0.667																																							uc004fbj.2		NA																	0					0						c.(22-24)CTG>CTT		leucine zipper, down-regulated in cancer 1							27.0	22.0	24.0					X																	140271183		2202	4297	6499	SO:0001819	synonymous_variant	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140271183C>A	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.24G>T	X.37:g.140271183C>A							p.L8L	NM_012317	NP_036449	O95751	LDOC1_HUMAN			1	128	-	Acute lymphoblastic leukemia(192;7.65e-05)		8					Q6IAR6	Silent	SNP	ENST00000370526.2	37	c.24G>T	CCDS14672.1																																																																																				0.667	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		14	18	1	0	4.36969e-10	0.001855	5.78294e-10	14	18				
SPANXN3	139067	broad.mit.edu	37	X	142605142	142605142	+	Splice_Site	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:142605142C>A	ENST00000370503.2	-	1	161	c.78G>T	c.(76-78)gaG>gaT	p.E26D	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	26										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					acaATCTTACCTCATCATTTT	0.463																																							uc004fbw.2		NA																	0				ovary(2)	2						c.(76-78)GAG>GAT		SPANX-N3 protein							214.0	182.0	193.0					X																	142605142		2203	4300	6503	SO:0001630	splice_region_variant	139067							g.chrX:142605142C>A		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.78+1G>T	X.37:g.142605142C>A							p.E26D	NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN			1	166	-	Acute lymphoblastic leukemia(192;6.56e-05)		26					Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	c.78G>T	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	C	9.998	1.232732	0.22626	.	.	ENSG00000189252	ENST00000370503	T	0.08008	3.14	2.13	0.25	0.15535	.	.	.	.	.	T	0.17450	0.0419	M	0.69823	2.125	0.09310	N	1	D	0.61080	0.989	P	0.57911	0.829	T	0.10109	-1.0644	8	.	.	.	.	4.4747	0.11729	0.0:0.6476:0.0:0.3524	.	26	Q5MJ09	SPXN3_HUMAN	D	26	ENSP00000359534:E26D	.	E	-	3	2	SPANXN3	142432808	0.054000	0.20591	0.004000	0.12327	0.015000	0.08874	0.110000	0.15437	-0.007000	0.14345	0.509000	0.49947	GAG		0.463	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609	Missense_Mutation	12	147	1	0	6.40141e-05	0.000978	7.11046e-05	12	147				
SLITRK2	84631	broad.mit.edu	37	X	144904214	144904214	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:144904214C>A	ENST00000370490.1	+	1	4526	c.271C>A	c.(271-273)Ctt>Att	p.L91I	SLITRK2_ENST00000434188.2_Missense_Mutation_p.L91I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L91I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L91I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L91I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	91					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGCGGTGACTCTTCACCTAGG	0.463																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(271-273)CTT>ATT		SLIT and NTRK-like family, member 2 precursor							85.0	77.0	80.0					X																	144904214		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904214C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.271C>A	X.37:g.144904214C>A	ENSP00000359521:p.Leu91Ile					SLITRK2_uc010nsp.2_Missense_Mutation_p.L91I|SLITRK2_uc010nso.2_Missense_Mutation_p.L91I|SLITRK2_uc011mwq.1_Missense_Mutation_p.L91I|SLITRK2_uc011mwr.1_Missense_Mutation_p.L91I|SLITRK2_uc011mws.1_Missense_Mutation_p.L91I|SLITRK2_uc004fcg.2_Missense_Mutation_p.L91I|SLITRK2_uc011mwt.1_Missense_Mutation_p.L91I	p.L91I	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1261	+	Acute lymphoblastic leukemia(192;6.56e-05)		91			Extracellular (Potential).|LRR 2.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.271C>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781817	0.70222	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000001	D	0.85733	0.5765	M	0.69185	2.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.83999	0.0342	10	0.27785	T	0.31	-7.231	14.8435	0.70243	0.0:1.0:0.0:0.0	.	91	Q9H156	SLIK2_HUMAN	I	91	ENSP00000334374:L91I;ENSP00000411681:L91I;ENSP00000359521:L91I;ENSP00000397015:L91I;ENSP00000407347:L91I;ENSP00000412010:L91I	ENSP00000334374:L91I	L	+	1	0	SLITRK2	144711906	0.991000	0.36638	0.992000	0.48379	0.863000	0.49368	2.689000	0.46993	2.087000	0.62958	0.600000	0.82982	CTT		0.463	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		30	59	1	0	1.30897e-18	0.009535	2.21638e-18	30	59				
FMR1	2332	broad.mit.edu	37	X	147011491	147011491	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:147011491G>T	ENST00000370475.4	+	6	572	c.444G>T	c.(442-444)aaG>aaT	p.K148N	FMR1_ENST00000370477.1_Missense_Mutation_p.K148N|FMR1_ENST00000370470.1_Missense_Mutation_p.K148N|FMR1_ENST00000334557.6_Missense_Mutation_p.K148N|FMR1_ENST00000370471.3_Missense_Mutation_p.K148N|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Missense_Mutation_p.K148N|FMR1_ENST00000218200.8_Missense_Mutation_p.K148N	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	148					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCACATAAGGATTTTAAAA	0.313									Fragile X syndrome																														uc010nst.2		NA																	0				ovary(2)|pancreas(1)	3						c.(442-444)AAG>AAT		fragile X mental retardation 1							76.0	68.0	71.0					X																	147011491		2203	4300	6503	SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147011491G>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.444G>T	X.37:g.147011491G>T	ENSP00000359506:p.Lys148Asn					FMR1_uc011mwz.1_Missense_Mutation_p.K148N|FMR1_uc004fcj.2_Missense_Mutation_p.K148N|FMR1_uc004fck.3_Missense_Mutation_p.K148N|FMR1_uc004fcl.3_Missense_Mutation_p.K9N|FMR1_uc011mxa.1_5'Flank	p.K148N	NM_002024	NP_002015	Q06787	FMR1_HUMAN			6	633	+	Acute lymphoblastic leukemia(192;6.56e-05)		148					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.444G>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374461	0.42105	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.58506	1.07;0.33;1.09;1.08;1.4;1.09;1.11	5.26	1.48	0.22813	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.64404	1.975	0.80722	D	1	B;D;B;D;D	0.89917	0.213;0.999;0.27;1.0;1.0	B;D;B;D;D	0.91635	0.134;0.978;0.093;0.999;0.997	T	0.65092	-0.6252	10	0.59425	D	0.04	-20.8085	8.0369	0.30496	0.4148:0.0:0.5852:0.0	.	148;148;64;148;148	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	N	148	ENSP00000218200:K148N;ENSP00000359502:K148N;ENSP00000359508:K148N;ENSP00000359506:K148N;ENSP00000355115:K148N;ENSP00000395923:K148N;ENSP00000359501:K148N	ENSP00000218200:K148N	K	+	3	2	FMR1	146819183	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	1.592000	0.36676	0.168000	0.19655	0.600000	0.82982	AAG		0.313	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		33	20	1	0	1.22384e-17	0.002836	2.0288e-17	33	20				
FMR1	2332	broad.mit.edu	37	X	147026523	147026524	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:147026523_147026524GG>AT	ENST00000370475.4	+	15	1734_1735	c.1606_1607GG>AT	c.(1606-1608)GGg>ATg	p.G536M	FMR1_ENST00000370477.1_Missense_Mutation_p.G503M|FMR1_ENST00000370470.1_Missense_Mutation_p.G511M|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370471.3_Missense_Mutation_p.G446W|FMR1_ENST00000440235.2_Missense_Mutation_p.G183M|FMR1_ENST00000439526.2_Missense_Mutation_p.G513M|FMR1_ENST00000218200.8_Missense_Mutation_p.G515M	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	536	Interaction with RANBP9.|RNA-binding RGG-box.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GCGGCGTggagggggaggaaga	0.51									Fragile X syndrome																														uc010nst.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1606-1608)GGG>ATG		fragile X mental retardation 1																																				SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147026523_147026524GG>AT	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	Exception_encountered	X.37:g.147026523_147026524delinsAT	ENSP00000359506:p.Gly536Met					FMR1_uc004fcj.2_Missense_Mutation_p.G513M|FMR1_uc004fck.3_Missense_Mutation_p.G490M|FMR1_uc004fcl.3_Missense_Mutation_p.G376M|FMR1_uc011mxa.1_Missense_Mutation_p.G183M	p.G536M	NM_002024	NP_002015	Q06787	FMR1_HUMAN			15	1795_1796	+	Acute lymphoblastic leukemia(192;6.56e-05)		536			Interaction with RANBP9.|RNA-binding RGG-box.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	DNP	ENST00000370475.4	37	c.1606_1607GG>AT	CCDS14682.1																																																																																				0.510	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		24	8	0	0	0	0.004672	0	24	8				
AFF2	2334	broad.mit.edu	37	X	147743550	147743550	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:147743550C>A	ENST00000370460.2	+	3	781	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	AFF2_ENST00000370457.5_Missense_Mutation_p.S97Y|AFF2_ENST00000370458.1_Missense_Mutation_p.S97Y|AFF2_ENST00000342251.3_Missense_Mutation_p.S97Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	101					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGAATTCTGTGCCCCAG	0.403																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(301-303)TCT>TAT		fragile X mental retardation 2							142.0	144.0	143.0					X																	147743550		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743550C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.302C>A	X.37:g.147743550C>A	ENSP00000359489:p.Ser101Tyr					AFF2_uc004fco.2_Missense_Mutation_p.S97Y|AFF2_uc004fcq.2_Missense_Mutation_p.S97Y|AFF2_uc004fcr.2_Missense_Mutation_p.S97Y|AFF2_uc011mxb.1_Missense_Mutation_p.S101Y|AFF2_uc004fcs.2_Missense_Mutation_p.S97Y	p.S101Y	NM_002025	NP_002016	P51816	AFF2_HUMAN			3	781	+	Acute lymphoblastic leukemia(192;6.56e-05)		101					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.302C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091076	0.55968	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.63	5.63	0.86233	.	0.186878	0.46758	D	0.000266	T	0.77980	0.4212	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;D;D;P	0.91635	0.999;0.999;0.999;0.999;0.999;0.905	T	0.79617	-0.1729	10	0.72032	D	0.01	.	18.7174	0.91680	0.0:1.0:0.0:0.0	.	101;97;97;97;101;97	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	Y	101;97;97;97	ENSP00000359489:S101Y;ENSP00000359486:S97Y;ENSP00000345459:S97Y;ENSP00000359487:S97Y	ENSP00000345459:S97Y	S	+	2	0	AFF2	147551242	0.999000	0.42202	0.993000	0.49108	0.997000	0.91878	4.132000	0.57977	2.365000	0.80145	0.600000	0.82982	TCT		0.403	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		270	110	1	0	2.256e-115	0.00361	4.91967e-115	270	110				
AFF2	2334	broad.mit.edu	37	X	148037572	148037572	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:148037572C>A	ENST00000370460.2	+	11	2476	c.1997C>A	c.(1996-1998)cCa>cAa	p.P666Q	AFF2_ENST00000286437.5_Missense_Mutation_p.P307Q|AFF2_ENST00000370457.5_Missense_Mutation_p.P633Q|AFF2_ENST00000342251.3_Missense_Mutation_p.P633Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	666					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCATGACCCACCAAGAGGC	0.498																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1996-1998)CCA>CAA		fragile X mental retardation 2							85.0	90.0	88.0					X																	148037572		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037572C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1997C>A	X.37:g.148037572C>A	ENSP00000359489:p.Pro666Gln					AFF2_uc004fcq.2_Missense_Mutation_p.P656Q|AFF2_uc004fcr.2_Missense_Mutation_p.P627Q|AFF2_uc011mxb.1_Missense_Mutation_p.P631Q|AFF2_uc004fcs.2_Missense_Mutation_p.P633Q|AFF2_uc011mxc.1_Missense_Mutation_p.P307Q	p.P666Q	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2476	+	Acute lymphoblastic leukemia(192;6.56e-05)		666					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1997C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714131	0.30413	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.67	2.68	0.31781	.	0.184499	0.47455	D	0.000223	T	0.39963	0.1098	N	0.21373	0.66	0.32361	N	0.557162	B;B;B;B;B;B	0.20459	0.045;0.037;0.037;0.037;0.037;0.045	B;B;B;B;B;B	0.15870	0.014;0.008;0.008;0.008;0.008;0.014	T	0.36841	-0.9731	10	0.11794	T	0.64	.	7.4211	0.27073	0.3696:0.5387:0.0:0.0917	.	307;631;633;627;656;666	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	666;633;633;307	ENSP00000359489:P666Q;ENSP00000359486:P633Q;ENSP00000345459:P633Q;ENSP00000286437:P307Q	ENSP00000286437:P307Q	P	+	2	0	AFF2	147845272	0.958000	0.32768	0.861000	0.33841	0.932000	0.56968	2.718000	0.47236	1.155000	0.42497	0.600000	0.82982	CCA		0.498	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		139	63	1	0	1.95558e-62	0.00361	4.18759e-62	139	63				
AFF2	2334	broad.mit.edu	37	X	148038108	148038108	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:148038108G>C	ENST00000370460.2	+	11	3012	c.2533G>C	c.(2533-2535)Gag>Cag	p.E845Q	AFF2_ENST00000286437.5_Missense_Mutation_p.E486Q|AFF2_ENST00000370457.5_Missense_Mutation_p.E812Q|AFF2_ENST00000342251.3_Missense_Mutation_p.E812Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	845					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACAGCTGTGGAGAAACCAGC	0.527																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(2533-2535)GAG>CAG		fragile X mental retardation 2							68.0	67.0	67.0					X																	148038108		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148038108G>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2533G>C	X.37:g.148038108G>C	ENSP00000359489:p.Glu845Gln					AFF2_uc004fcq.2_Missense_Mutation_p.E835Q|AFF2_uc004fcr.2_Missense_Mutation_p.E806Q|AFF2_uc011mxb.1_Missense_Mutation_p.E810Q|AFF2_uc004fcs.2_Missense_Mutation_p.E812Q|AFF2_uc011mxc.1_Missense_Mutation_p.E486Q	p.E845Q	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	3012	+	Acute lymphoblastic leukemia(192;6.56e-05)		845					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2533G>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.356005	0.61293	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.87	5.87	0.94306	.	0.051826	0.85682	D	0.000000	T	0.80154	0.4571	M	0.72353	2.195	0.58432	D	0.999997	D;D;D;D;D;D	0.64830	0.994;0.992;0.992;0.992;0.992;0.994	P;P;P;P;P;P	0.60473	0.875;0.801;0.801;0.801;0.801;0.875	T	0.80301	-0.1440	10	0.51188	T	0.08	.	19.1236	0.93374	0.0:0.0:1.0:0.0	.	486;810;812;806;835;845	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	845;812;812;486	ENSP00000359489:E845Q;ENSP00000359486:E812Q;ENSP00000345459:E812Q;ENSP00000286437:E486Q	ENSP00000286437:E486Q	E	+	1	0	AFF2	147845808	1.000000	0.71417	0.663000	0.29738	0.296000	0.27459	8.223000	0.89779	2.467000	0.83353	0.600000	0.82982	GAG		0.527	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		70	45	0	0	0	0.00361	0	70	45				
TMEM185A	84548	broad.mit.edu	37	X	148690348	148690348	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:148690348C>G	ENST00000316916.8	-	3	693	c.389G>C	c.(388-390)tGc>tCc	p.C130S	TMEM185A_ENST00000536359.1_Missense_Mutation_p.C71S|TMEM185A_ENST00000507237.1_Missense_Mutation_p.C130S	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	130						dendrite (GO:0030425)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCCCCAAACGCAAGCTGCAAC	0.478																																							uc011mxq.1		NA																	0				ovary(1)	1						c.(388-390)TGC>TCC		transmembrane protein 185A							141.0	139.0	140.0					X																	148690348		2202	4299	6501	SO:0001583	missense	84548					integral to membrane		g.chrX:148690348C>G	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.389G>C	X.37:g.148690348C>G	ENSP00000359449:p.Cys130Ser					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.C71S|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.C47S	p.C130S	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN			4	700	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		130			Helical; (Potential).		B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	c.389G>C	CCDS14689.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.374361|4.374361	0.82573|0.82573	.|.	.|.	ENSG00000155984|ENSG00000155984	ENST00000502858|ENST00000316916;ENST00000536359;ENST00000507237	.|T;T;T	.|0.22743	.|1.94;1.94;1.94	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44265|0.44265	0.1285|0.1285	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.988;0.957	.|D;P;P	.|0.91635	.|0.999;0.761;0.642	T|T	0.21895|0.21895	-1.0232|-1.0232	5|10	.|0.45353	.|T	.|0.12	-11.2837|-11.2837	17.2137|17.2137	0.86937|0.86937	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|130;71;130	.|Q8NFB2;F5H5U0;E7EMM1	.|T185A_HUMAN;.;.	P|S	31|130;71;130	.|ENSP00000359449:C130S;ENSP00000443119:C71S;ENSP00000427766:C130S	.|ENSP00000359449:C130S	A|C	-|-	1|2	0|0	TMEM185A|TMEM185A	148498144|148498144	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.823000|0.823000	0.46562|0.46562	7.438000|7.438000	0.80431|0.80431	2.275000|2.275000	0.75901|0.75901	0.513000|0.513000	0.50165|0.50165	GCG|TGC		0.478	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		63	219	0	0	0	0.00361	0	63	219				
GPR50	9248	broad.mit.edu	37	X	150345294	150345294	+	Missense_Mutation	SNP	C	C	A	rs372712912		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:150345294C>A	ENST00000218316.3	+	1	170	c.101C>A	c.(100-102)gCg>gAg	p.A34E	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	34					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)			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)					ATGTTCTGCGCGATGGTTATC	0.522																																							uc010ntg.1		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(100-102)GCG>GAG		G protein-coupled receptor 50		C	GLU/ALA	1,3227		0,1,1328,570	128.0	124.0	125.0		101	1.9	0.2	X		125	0,6432		0,0,2326,1780	no	missense	GPR50	NM_004224.3	107	0,1,3654,2350	AA,AC,CC,C		0.0,0.031,0.0104	benign	34/618	150345294	1,9659	1899	4106	6005	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345294C>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.101C>A	X.37:g.150345294C>A	ENSP00000218316:p.Ala34Glu					uc004fes.1_RNA|GPR50_uc011myc.1_Missense_Mutation_p.A34E	p.A34E	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			1	236	+	Acute lymphoblastic leukemia(192;6.56e-05)		34			Helical; Name=1; (Potential).		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.101C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415335	0.25552	3.1E-4	0.0	ENSG00000102195	ENST00000218316	T	0.38401	1.14	3.88	1.91	0.25777	.	0.704021	0.13056	N	0.417277	T	0.18718	0.0449	N	0.08118	0	0.21355	N	0.999718	P	0.43169	0.8	B	0.41036	0.346	T	0.08554	-1.0716	10	0.72032	D	0.01	0.0044	5.3749	0.16160	0.0:0.6867:0.0:0.3133	.	34	Q13585	MTR1L_HUMAN	E	34	ENSP00000218316:A34E	ENSP00000218316:A34E	A	+	2	0	GPR50	150095952	0.611000	0.26992	0.233000	0.24025	0.442000	0.32017	0.030000	0.13688	0.199000	0.20427	0.292000	0.19580	GCG		0.522	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		137	71	1	0	2.67552e-55	0.00361	5.69497e-55	137	71				
GPR50	9248	broad.mit.edu	37	X	150349445	150349445	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:150349445T>A	ENST00000218316.3	+	2	1459	c.1390T>A	c.(1390-1392)Tct>Act	p.S464T	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	464	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)			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)					CAAGCCTGACTCTGTTCATTT	0.547																																							uc010ntg.1		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1390-1392)TCT>ACT		G protein-coupled receptor 50							246.0	254.0	251.0					X																	150349445		2109	4231	6340	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349445T>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.1390T>A	X.37:g.150349445T>A	ENSP00000218316:p.Ser464Thr						p.S464T	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1525	+	Acute lymphoblastic leukemia(192;6.56e-05)		464			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1390T>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	T	4.037	0.004346	0.07866	.	.	ENSG00000102195	ENST00000218316	T	0.72505	-0.66	2.79	-1.39	0.08997	.	0.249961	0.21226	N	0.078065	T	0.41858	0.1177	N	0.12182	0.205	0.22754	N	0.998773	B	0.23891	0.093	B	0.12837	0.008	T	0.13442	-1.0509	10	0.30854	T	0.27	-8.7572	3.521	0.07741	0.5886:0.1362:0.0:0.2752	.	464	Q13585	MTR1L_HUMAN	T	464	ENSP00000218316:S464T	ENSP00000218316:S464T	S	+	1	0	GPR50	150100103	0.000000	0.05858	0.009000	0.14445	0.325000	0.28411	-0.921000	0.04008	-0.396000	0.07703	0.381000	0.24937	TCT		0.547	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		495	198	0	0	0	0.00361	0	495	198				
MAGEA4	4103	broad.mit.edu	37	X	151092786	151092786	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:151092786C>A	ENST00000360243.2	+	3	917	c.650C>A	c.(649-651)gCc>gAc	p.A217D	MAGEA4_ENST00000370340.3_Missense_Mutation_p.A217D|MAGEA4_ENST00000370337.4_Missense_Mutation_p.A217D|MAGEA4_ENST00000276344.2_Missense_Mutation_p.A217D|MAGEA4_ENST00000370335.1_Missense_Mutation_p.A217D|MAGEA4_ENST00000393921.1_Missense_Mutation_p.A217D|MAGEA4_ENST00000393920.1_Missense_Mutation_p.A217D	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	217	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGACAGCGCCTCTGAGGAG	0.547																																							uc004fez.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(649-651)GCC>GAC		melanoma antigen family A, 4							103.0	107.0	106.0					X																	151092786		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092786C>A		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.650C>A	X.37:g.151092786C>A	ENSP00000353379:p.Ala217Asp					MAGEA4_uc004ffa.2_Missense_Mutation_p.A217D|MAGEA4_uc004ffb.2_Missense_Mutation_p.A217D|MAGEA4_uc004ffc.2_Missense_Mutation_p.A217D|MAGEA4_uc004ffd.2_Missense_Mutation_p.A217D	p.A217D	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	806	+	Acute lymphoblastic leukemia(192;6.56e-05)		217			MAGE.		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.650C>A	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002565	0.35320	.	.	ENSG00000147381	ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.10763	3.33;2.84;3.33;3.33;3.33;3.33;3.33;3.33;3.33;2.84;3.33;3.33;3.33;3.33	2.37	0.733	0.18289	.	0.580013	0.19436	N	0.114317	T	0.36331	0.0963	H	0.95611	3.695	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.16988	-1.0384	9	.	.	.	.	3.9185	0.09233	0.0:0.611:0.0:0.389	.	217	P43358	MAGA4_HUMAN	D	217	ENSP00000276344:A217D;ENSP00000391904:A217D;ENSP00000377498:A217D;ENSP00000394149:A217D;ENSP00000359362:A217D;ENSP00000402624:A217D;ENSP00000377497:A217D;ENSP00000359365:A217D;ENSP00000394073:A217D;ENSP00000400900:A217D;ENSP00000402186:A217D;ENSP00000359360:A217D;ENSP00000353379:A217D;ENSP00000390096:A217D	.	A	+	2	0	MAGEA4	150843442	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.079000	0.11357	0.074000	0.16767	0.292000	0.19580	GCC		0.547	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		150	80	1	0	1.30846e-95	0.00361	2.849e-95	150	80				
HAUS7	55559	broad.mit.edu	37	X	152721042	152721042	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:152721042G>T	ENST00000370211.4	-	8	961	c.918C>A	c.(916-918)ccC>ccA	p.P306P	TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Silent_p.P306P|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000421080.2_Missense_Mutation_p.P128Q|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000370232.1_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	306					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CCTGGATGATGGGGCCGCACG	0.622																																							uc004fho.1		NA																	0					0						c.(916-918)CCC>CCA		HAUS augmin-like complex subunit 7							88.0	69.0	75.0					X																	152721042		2203	4298	6501	SO:0001819	synonymous_variant	55559				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152721042G>T	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.918C>A	X.37:g.152721042G>T						HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Silent_p.P306P|HAUS7_uc004fhp.1_RNA	p.P306P	NM_017518	NP_059988	Q99871	HAUS7_HUMAN			8	1476	-			306					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Silent	SNP	ENST00000370211.4	37	c.918C>A	CCDS35438.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077441	0.36662	.	.	ENSG00000213397	ENST00000435662;ENST00000421080	T	0.25085	1.82	4.99	4.07	0.47477	.	0.319686	0.33309	N	0.005042	T	0.29190	0.0726	.	.	.	0.23361	N	0.997837	.	.	.	.	.	.	T	0.10337	-1.0634	7	0.46703	T	0.11	-25.7866	10.1883	0.43011	0.0:0.0:0.8024:0.1976	.	.	.	.	Q	90;128	ENSP00000389431:P90Q	ENSP00000395447:P128Q	P	-	2	0	HAUS7	152374236	0.677000	0.27577	0.975000	0.42487	0.390000	0.30446	0.637000	0.24659	2.221000	0.72209	0.292000	0.19580	CCA		0.622	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		42	29	1	0	7.66079e-34	0.002522	1.55398e-33	42	29				
ATP2B3	492	broad.mit.edu	37	X	152815537	152815537	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:152815537T>C	ENST00000349466.2	+	11	1942	c.1616T>C	c.(1615-1617)gTg>gCg	p.V539A	ATP2B3_ENST00000370181.2_Missense_Mutation_p.V525A|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V525A|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V539A|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V539A|ATP2B3_ENST00000370186.1_Missense_Mutation_p.V525A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	539					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACGCCAGGTGGGCAATAAG	0.637																																							uc004fht.1		NA																	0				pancreas(1)	1						c.(1615-1617)GTG>GCG		plasma membrane calcium ATPase 3 isoform 3b							51.0	38.0	42.0					X																	152815537		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815537T>C	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1616T>C	X.37:g.152815537T>C	ENSP00000343886:p.Val539Ala					ATP2B3_uc004fhs.1_Missense_Mutation_p.V539A	p.V539A	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			10	1742	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		539			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1616T>C	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	t	27.4	4.827219	0.90955	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.26	5.26	0.73747	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	L	0.49350	1.555	0.51767	D	0.999933	B;B	0.32040	0.353;0.304	B;B	0.40375	0.327;0.3	T	0.72279	-0.4340	10	0.62326	D	0.03	-20.7156	13.2116	0.59828	0.0:0.0:0.0:1.0	.	539;539	Q16720;Q16720-2	AT2B3_HUMAN;.	A	525;539;525;539;539;525	ENSP00000359205:V525A;ENSP00000343886:V539A;ENSP00000377425:V525A;ENSP00000352062:V539A;ENSP00000263519:V539A;ENSP00000359200:V525A	ENSP00000263519:V539A	V	+	2	0	ATP2B3	152468731	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.029000	0.88807	1.761000	0.52028	0.480000	0.44947	GTG		0.637	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		44	17	0	0	0	0.00874	0	44	17				
SLC6A8	6535	broad.mit.edu	37	X	152959710	152959710	+	Silent	SNP	C	C	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:152959710C>G	ENST00000253122.5	+	9	1856	c.1380C>G	c.(1378-1380)tcC>tcG	p.S460S	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.S345S	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	460					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCGATCTCTCCATGGTGACTG	0.622																																							uc004fib.3		NA																	0				pancreas(1)	1						c.(1378-1380)TCC>TCG		solute carrier family 6 member 8 isoform 1	Creatine(DB00148)						91.0	93.0	92.0					X																	152959710		2203	4300	6503	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152959710C>G		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1380C>G	X.37:g.152959710C>G						SLC6A8_uc004fic.3_Silent_p.S450S|SLC6A8_uc011myx.1_Silent_p.S345S|SLC6A8_uc010nuj.2_RNA	p.S460S	NM_005629	NP_005620	P48029	SC6A8_HUMAN			9	1658	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		460			Helical; (Potential).		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.1380C>G	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	c	7.089	0.571729	0.13623	.	.	ENSG00000130821	ENST00000442457	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	T	0.63319	0.2501	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62353	-0.6872	4	.	.	.	.	11.5588	0.50764	0.0:0.6912:0.3088:0.0	.	.	.	.	R	145	.	.	P	+	2	0	SLC6A8	152612904	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.859000	0.39418	2.130000	0.65690	0.529000	0.55759	CCA		0.622	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			139	73	0	0	0	0.00361	0	139	73				
ABCD1	215	broad.mit.edu	37	X	153001804	153001804	+	Silent	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153001804G>T	ENST00000218104.3	+	4	1629	c.1230G>T	c.(1228-1230)acG>acT	p.T410T	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	410					alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGGTGACGGAGCTGGCTG	0.622																																							uc004fif.2		NA																	0					0						c.(1228-1230)ACG>ACT		ATP-binding cassette, sub-family D (ALD), member							77.0	63.0	68.0					X																	153001804		2203	4300	6503	SO:0001819	synonymous_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153001804G>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1230G>T	X.37:g.153001804G>T						ABCD1_uc004fig.2_5'Flank	p.T410T	NM_000033	NP_000024	P33897	ABCD1_HUMAN			4	1629	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		410					Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.1230G>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	g	6.479	0.456565	0.12283	.	.	ENSG00000101986	ENST00000443684	.	.	.	4.7	-0.413	0.12363	.	.	.	.	.	T	0.44222	0.1283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	-5.9419	4.1892	0.10413	0.32:0.0:0.4052:0.2748	.	.	.	.	L	78	.	.	R	+	2	0	ABCD1	152654998	0.001000	0.12720	0.998000	0.56505	0.743000	0.42351	-1.660000	0.01974	-0.119000	0.11830	-0.415000	0.06103	CGG		0.622	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		20	67	1	0	2.54575e-18	0.010504	4.28504e-18	20	67				
ARHGAP4	393	broad.mit.edu	37	X	153176039	153176039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153176039C>A	ENST00000350060.5	-	16	1884	c.1843G>T	c.(1843-1845)Gag>Tag	p.E615*	ARHGAP4_ENST00000370016.1_Nonsense_Mutation_p.E594*|ARHGAP4_ENST00000370028.3_Nonsense_Mutation_p.E655*|ARHGAP4_ENST00000393721.1_Nonsense_Mutation_p.E437*|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Nonsense_Mutation_p.E592*	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	615	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					CTCACGTGCTCCACCCTCTCC	0.697																																							uc004fjk.1		NA																	0				central_nervous_system(1)	1						c.(1843-1845)GAG>TAG		Rho GTPase activating protein 4 isoform 2							9.0	13.0	12.0					X																	153176039		2108	4141	6249	SO:0001587	stop_gained	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153176039C>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1843G>T	X.37:g.153176039C>A	ENSP00000203786:p.Glu615*					ARHGAP4_uc004fjj.1_5'UTR|ARHGAP4_uc011mzf.1_Nonsense_Mutation_p.E592*|ARHGAP4_uc004fjl.1_Nonsense_Mutation_p.E655*|ARHGAP4_uc010nup.1_Intron	p.E615*	NM_001666	NP_001657	P98171	RHG04_HUMAN			16	1885	-	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)		615			Rho-GAP.		Q14144|Q86UY3	Nonsense_Mutation	SNP	ENST00000350060.5	37	c.1843G>T	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.62|13.62	2.292171|2.292171	0.40594|0.40594	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000454164;ENST00000442172	.|.	.|.	.|.	4.22|4.22	3.33|3.33	0.38152|0.38152	.|.	0.000000|.	0.41712|.	D|.	0.000823|.	.|T	.|0.30230	.|0.0758	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.32025	.|-0.9922	.|3	0.08381|.	T|.	0.77|.	.|.	2.3479|2.3479	0.04276|0.04276	0.2012:0.4981:0.1915:0.1093|0.2012:0.4981:0.1915:0.1093	.|.	.|.	.|.	.|.	X|C	437;655;615;594;592|114;103	.|.	ENSP00000203786:E615X|.	E|W	-|-	1|3	0|0	ARHGAP4|ARHGAP4	152829233|152829233	0.001000|0.001000	0.12720|0.12720	0.800000|0.800000	0.32199|0.32199	0.046000|0.046000	0.14306|0.14306	0.445000|0.445000	0.21677|0.21677	0.775000|0.775000	0.33450|0.33450	0.597000|0.597000	0.82753|0.82753	GAG|TGG		0.697	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		13	26	1	0	4.7546e-09	0.004007	6.0996e-09	13	26				
FLNA	2316	broad.mit.edu	37	X	153587460	153587460	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153587460G>T	ENST00000369850.3	-	26	4602	c.4366C>A	c.(4366-4368)Ccc>Acc	p.P1456T	FLNA_ENST00000344736.4_Missense_Mutation_p.P1456T|FLNA_ENST00000360319.4_Missense_Mutation_p.P1456T|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.P1456T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1456					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCAGGCCGGGCCCAGAGCAC	0.597																																							uc004fkk.2		NA																	0				breast(6)	6						c.(4366-4368)CCC>ACC		filamin A, alpha isoform 2							145.0	151.0	149.0					X																	153587460		2098	4210	6308	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587460G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4366C>A	X.37:g.153587460G>T	ENSP00000358866:p.Pro1456Thr					FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.P1456T	p.P1456T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			26	4615	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1456			Filamin 13.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4366C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362331	0.61403	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.69	4.8	0.61643	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.137236	0.48286	D	0.000193	D	0.89238	0.6658	M	0.88906	2.99	0.80722	D	1	P;P	0.42827	0.791;0.631	B;P	0.44811	0.444;0.461	D	0.91362	0.5112	10	0.66056	D	0.02	.	15.1246	0.72472	0.0:0.0:0.8584:0.1416	.	1456;1456	P21333-2;P21333	.;FLNA_HUMAN	T	1456;1429;1456;1456;1456	ENSP00000353467:P1456T;ENSP00000416926:P1456T;ENSP00000358866:P1456T;ENSP00000358863:P1456T	ENSP00000358863:P1456T	P	-	1	0	FLNA	153240654	1.000000	0.71417	0.995000	0.50966	0.543000	0.35085	7.525000	0.81892	2.379000	0.81126	0.600000	0.82982	CCC		0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			181	116	1	0	3.54974e-74	0.00361	7.68212e-74	181	116				
FLNA	2316	broad.mit.edu	37	X	153590134	153590134	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153590134T>G	ENST00000369850.3	-	20	3084	c.2848A>C	c.(2848-2850)Act>Cct	p.T950P	FLNA_ENST00000344736.4_Missense_Mutation_p.T950P|FLNA_ENST00000360319.4_Missense_Mutation_p.T950P|FLNA_ENST00000422373.1_Missense_Mutation_p.T950P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	950					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTCCATAAGTGACATTGACG	0.557																																							uc004fkk.2		NA																	0				breast(6)	6						c.(2848-2850)ACT>CCT		filamin A, alpha isoform 2							80.0	76.0	78.0					X																	153590134		1932	4119	6051	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590134T>G	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2848A>C	X.37:g.153590134T>G	ENSP00000358866:p.Thr950Pro					FLNA_uc010nuu.1_Missense_Mutation_p.T950P	p.T950P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			20	3097	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		950			Filamin 7.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2848A>C	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891387	0.52014	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.56	4.4	0.53042	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.133460	0.47852	D	0.000220	D	0.92515	0.7623	M	0.90814	3.15	0.80722	D	1	P;B	0.41498	0.752;0.11	P;B	0.61800	0.894;0.098	D	0.91909	0.5538	10	0.87932	D	0	.	9.2703	0.37668	0.0:0.1527:0.0:0.8473	.	950;950	P21333-2;P21333	.;FLNA_HUMAN	P	950;923;950;950;950	ENSP00000353467:T950P;ENSP00000416926:T950P;ENSP00000358866:T950P;ENSP00000358863:T950P	ENSP00000358863:T950P	T	-	1	0	FLNA	153243328	1.000000	0.71417	0.895000	0.35142	0.618000	0.37518	6.264000	0.72527	0.751000	0.32900	0.425000	0.28330	ACT		0.557	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			52	53	0	0	0	0.00361	0	52	53				
EMD	2010	broad.mit.edu	37	X	153608666	153608666	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:153608666C>A	ENST00000369842.4	+	4	626	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	EMD_ENST00000369835.3_Missense_Mutation_p.P78Q|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	113	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTGCCGGCCCGTCCAGGGCT	0.592																																							uc004fkl.2		NA																	0					0						c.(337-339)CCG>CAG		emerin							51.0	49.0	50.0					X																	153608666		2203	4298	6501	SO:0001583	missense	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153608666C>A	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.338C>A	X.37:g.153608666C>A	ENSP00000358857:p.Pro113Gln						p.P113Q	NM_000117	NP_000108	P50402	EMD_HUMAN			4	586	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		113			Interaction with F-actin (Probable).		Q6FI02	Missense_Mutation	SNP	ENST00000369842.4	37	c.338C>A	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	C	0.344	-0.948543	0.02304	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	D;D	0.86297	-1.68;-2.1	3.78	-0.887	0.10587	.	0.743599	0.11994	N	0.509529	T	0.66366	0.2782	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51988	-0.8635	10	0.13470	T	0.59	-12.6342	2.95	0.05859	0.2072:0.3219:0.0:0.4708	.	113	P50402	EMD_HUMAN	Q	113;78	ENSP00000358857:P113Q;ENSP00000358850:P78Q	ENSP00000358850:P78Q	P	+	2	0	EMD	153261860	0.001000	0.12720	0.004000	0.12327	0.005000	0.04900	0.338000	0.19858	-0.185000	0.10550	-1.936000	0.00505	CCG		0.592	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			84	37	1	0	1.67174e-50	0.00361	3.53724e-50	84	37				
F8	2157	broad.mit.edu	37	X	154158167	154158167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:154158167C>A	ENST00000360256.4	-	14	4098	c.3898G>T	c.(3898-3900)Gga>Tga	p.G1300*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1300	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTGATTTCCCAAGCCTTCC	0.373																																							uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3898-3900)GGA>TGA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						185.0	158.0	167.0					X																	154158167		2203	4299	6502	SO:0001587	stop_gained	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158167C>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3898G>T	X.37:g.154158167C>A	ENSP00000353393:p.Gly1300*						p.G1300*	NM_000132	NP_000123	P00451	FA8_HUMAN			14	4069	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1300			B.		Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	c.3898G>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	39	7.407651	0.98265	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.46	-0.506	0.11989	.	0.943966	0.08779	N	0.894901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	0.4275	8.8755	0.35343	0.0:0.4761:0.0:0.5239	.	.	.	.	X	1300	.	ENSP00000353393:G1300X	G	-	1	0	F8	153811361	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	0.155000	0.16362	-0.165000	0.10908	-0.922000	0.02736	GGA		0.373	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			45	138	1	0	9.9191e-30	0.00874	1.95364e-29	45	138				
SPRY3	10251	broad.mit.edu	37	X	155004198	155004198	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:155004198G>T	ENST00000302805.2	+	2	1096	c.665G>T	c.(664-666)tGg>tTg	p.W222L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	222	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTGTCCGCTGGGCAGCCATG	0.567																																							uc004fnq.1		NA																	0					0						c.(664-666)TGG>TTG		sprouty homolog 3							243.0	216.0	225.0					X																	155004198		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004198G>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.665G>T	X.37:g.155004198G>T	ENSP00000302978:p.Trp222Leu					SPRY3_uc010nvl.1_Missense_Mutation_p.W123L	p.W222L	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	1119	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		222			SPR.|Cys-rich.		A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.665G>T	CCDS14769.4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.95|14.95	2.689690|2.689690	0.48097|0.48097	.|.	.|.	ENSG00000168939|ENSG00000168939	ENST00000369437|ENST00000302805	.|T	.|0.69175	.|-0.38	2.94|2.94	2.94|2.94	0.34122|0.34122	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.78786|0.78786	0.4338|0.4338	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.79108	.|0.992	T|T	0.68554|0.68554	-0.5378|-0.5378	5|9	0.87932|0.87932	D|D	0|0	-24.5489|-24.5489	10.9825|10.9825	0.47504|0.47504	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|222	.|O43610	.|SPY3_HUMAN	W|L	123|222	.|ENSP00000302978:W222L	ENSP00000358445:G123W|ENSP00000302978:W222L	G|W	+|+	1|2	0|0	SPRY3|SPRY3	154657392|154657392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.823000|0.823000	0.46562|0.46562	7.231000|7.231000	0.78106|0.78106	1.494000|1.494000	0.48533|0.48533	0.279000|0.279000	0.19357|0.19357	GGG|TGG		0.567	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		42	185	1	0	1.48646e-12	0.002522	2.15333e-12	42	185				
TGFBR3	7049	broad.mit.edu	37	1	92181945	92181945	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:92181945delA	ENST00000525962.1	-	11	1775	c.1714delT	c.(1714-1716)tgcfs	p.C572fs	TGFBR3_ENST00000370399.2_Frame_Shift_Del_p.C571fs|TGFBR3_ENST00000212355.4_Frame_Shift_Del_p.C572fs			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	572	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGAAGGCTGCAATTAAACTGG	0.448																																							uc001doh.2		NA																	0				ovary(3)	3						c.(1714-1716)TGCfs		transforming growth factor, beta receptor III							110.0	110.0	110.0					1																	92181945		2203	4300	6503	SO:0001589	frameshift_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92181945delA	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1714delT	1.37:g.92181945delA	ENSP00000436127:p.Cys572fs					TGFBR3_uc009wde.2_Frame_Shift_Del_p.C349fs|TGFBR3_uc010osy.1_Frame_Shift_Del_p.C530fs|TGFBR3_uc001doi.2_Frame_Shift_Del_p.C571fs|TGFBR3_uc001doj.2_Frame_Shift_Del_p.C571fs	p.C572fs	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	12	2180	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	572			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Frame_Shift_Del	DEL	ENST00000525962.1	37	c.1714delT	CCDS30770.1																																																																																				0.448	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		28	4	NA	NA	NA	NA	NA	28	4	---	---	---	---
RBM15	64783	broad.mit.edu	37	1	110884751	110884751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:110884751delG	ENST00000369784.3	+	1	3624	c.2724delG	c.(2722-2724)gtgfs	p.V908fs	RBM15_ENST00000487146.2_Frame_Shift_Del_p.V908fs|RBM15_ENST00000602849.1_Frame_Shift_Del_p.V908fs|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	908	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G910fs*41(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTCCCTGTGGGGGGCAACA	0.557			T	MKL1	acute megakaryocytic leukemia																																		uc001dzl.1		NA		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		1	Deletion - Frameshift(1)		large_intestine(1)	ovary(3)	3						c.(2722-2724)GTGfs		RNA binding motif protein 15							76.0	80.0	78.0					1																	110884751		2203	4300	6503	SO:0001589	frameshift_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884751delG	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2724delG	1.37:g.110884751delG	ENSP00000358799:p.Val908fs					RBM15_uc001dzm.1_Frame_Shift_Del_p.V908fs|uc001dzj.2_5'Flank	p.V908fs	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	2807	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	908			SPOC.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	ENST00000369784.3	37	c.2724delG	CCDS822.1																																																																																				0.557	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		41	10	NA	NA	NA	NA	NA	41	10	---	---	---	---
ADAM30	11085	broad.mit.edu	37	1	120436750	120436750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:120436750delG	ENST00000369400.1	-	1	2368	c.2210delC	c.(2209-2211)acafs	p.T737fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	737	5 X 9 AA approximate repeats.		T -> A (in dbSNP:rs35273427).		binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TACAGTTTTTGTTTTAGATTC	0.363																																							uc001eij.2		NA																	0				ovary(2)|lung(1)	3						c.(2209-2211)ACAfs		ADAM metallopeptidase domain 30 preproprotein							197.0	207.0	203.0					1																	120436750		2203	4300	6503	SO:0001589	frameshift_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436750delG	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2210delC	1.37:g.120436750delG	ENSP00000358407:p.Thr737fs						p.T737fs	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2364	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	737			5 X 9 AA approximate repeats.|Cytoplasmic (Potential).|1.		A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Del	DEL	ENST00000369400.1	37	c.2210delC	CCDS907.1																																																																																				0.363	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		85	30	NA	NA	NA	NA	NA	85	30	---	---	---	---
NMNAT2	23057	broad.mit.edu	37	1	183255865	183255865	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:183255865delC	ENST00000287713.6	-	5	714	c.380delG	c.(379-381)ggafs	p.G127fs	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Frame_Shift_Del_p.G122fs	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	127					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TTGTGGCTGTCCGATCACAGG	0.522																																							uc001gqc.1		NA																	0				skin(1)	1						c.(379-381)GGAfs		nicotinamide mononucleotide adenylyltransferase							166.0	148.0	154.0					1																	183255865		2203	4300	6503	SO:0001589	frameshift_variant	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183255865delC	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.380delG	1.37:g.183255865delC	ENSP00000287713:p.Gly127fs					NMNAT2_uc001gqb.1_Frame_Shift_Del_p.G122fs|NMNAT2_uc001gqd.2_Frame_Shift_Del_p.G22fs	p.G127fs	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN			5	715	-			127					O75067|Q5T1Q3|Q8WU99|Q96QW1	Frame_Shift_Del	DEL	ENST00000287713.6	37	c.380delG	CCDS1353.1																																																																																				0.522	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			35	49	NA	NA	NA	NA	NA	35	49	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737718	248737718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr1:248737718delC	ENST00000328782.2	-	1	362	c.341delG	c.(340-342)ggafs	p.G114fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AACCTCAGCTCCAGCCAGGGT	0.562																																							uc001iep.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(340-342)GGAfs		olfactory receptor, family 2, subfamily T,							88.0	83.0	84.0					1																	248737718		2177	4279	6456	SO:0001589	frameshift_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737718delC	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.341delG	1.37:g.248737718delC	ENSP00000330904:p.Gly114fs						p.G114fs	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	341	-	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)		114			Helical; Name=3; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Frame_Shift_Del	DEL	ENST00000328782.2	37	c.341delG	CCDS31120.1																																																																																				0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		27	65	NA	NA	NA	NA	NA	27	65	---	---	---	---
HNRNPA3P1	10151	broad.mit.edu	37	10	44285625	44285625	+	IGR	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:44285625delG								RP11-272J7.4 (11352 upstream) : LINC00619 (55128 downstream)																							CGTTTTGTTTGGGGGTCTCTC	0.443																																							uc010qfe.1		NA																	0					0						c.(211-213)CAAfs		SubName: Full=cDNA FLJ52659, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=cDNA, FLJ79333, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=Heterogeneous nuclear ribonucleoprotein A3, isoform CRA_a;																																				SO:0001628	intergenic_variant	10151							g.chr10:44285625delG																													10.37:g.44285625delG							p.Q71fs	NR_002726						1	241	-									Frame_Shift_Del	DEL		37	c.211delC																																																																																				0	0.443									20	22	NA	NA	NA	NA	NA	20	22	---	---	---	---
ZNF488	118738	broad.mit.edu	37	10	48371143	48371143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:48371143delG	ENST00000395702.2	+	2	838	c.611delG	c.(610-612)tggfs	p.W204fs	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Frame_Shift_Del_p.W97fs			Q96MN9	ZN488_HUMAN	zinc finger protein 488	204					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CTCGCTTGTTGGGGTCGACTT	0.542																																							uc001jex.2		NA																	0				ovary(1)	1						c.(610-612)TGGfs		zinc finger protein 488							131.0	124.0	126.0					10																	48371143		2203	4300	6503	SO:0001589	frameshift_variant	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371143delG	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.611delG	10.37:g.48371143delG	ENSP00000379054:p.Trp204fs					ZNF488_uc001jey.2_Frame_Shift_Del_p.W97fs	p.W204fs	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN			2	773	+			204					Q05CE0	Frame_Shift_Del	DEL	ENST00000395702.2	37	c.611delG	CCDS7217.1																																																																																				0.542	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		11	38	NA	NA	NA	NA	NA	11	38	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106802834	106802834	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr10:106802834delG	ENST00000369701.3	+	5	1203	c.976delG	c.(976-978)ggafs	p.G326fs		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	326					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGGACTTTGGAAGACGGTG	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(976-978)GGAfs		VPS10 domain receptor protein SORCS 3 precursor							223.0	201.0	208.0					10																	106802834		2203	4300	6503	SO:0001589	frameshift_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106802834delG	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.976delG	10.37:g.106802834delG	ENSP00000358715:p.Gly326fs						p.G326fs	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)	5	1203	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	326			BNR 3.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Frame_Shift_Del	DEL	ENST00000369701.3	37	c.976delG	CCDS7558.1																																																																																				0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		31	41	NA	NA	NA	NA	NA	31	41	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4045158	4045159	+	Frame_Shift_Ins	INS	-	-	T	rs397514677		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:4045158_4045159insT	ENST00000300737.4	+	3	895_896	c.326_327insT	c.(325-330)catggtfs	p.G110fs	STIM1_ENST00000527484.1_3'UTR|STIM1_ENST00000527651.1_Frame_Shift_Ins_p.G110fs	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	110					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGCACCTTCCATGGTGAGGATA	0.485																																							uc001lyv.2		NA																	0				pancreas(1)	1						c.(325-327)CATfs		stromal interaction molecule 1 precursor																																				SO:0001589	frameshift_variant	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4045158_4045159insT	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.327dupT	11.37:g.4045159_4045159dupT	ENSP00000300737:p.Gly110fs					STIM1_uc009yef.2_Frame_Shift_Ins_p.H109fs	p.H109fs	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	3	894_895	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	109			Extracellular (Potential).		E9PQJ4|Q8N382	Frame_Shift_Ins	INS	ENST00000300737.4	37	c.326_327insT	CCDS7749.1																																																																																				0.485	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		14	27	NA	NA	NA	NA	NA	14	27	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62297223	62297224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:62297223_62297224insA	ENST00000378024.4	-	5	4939_4940	c.4665_4666insT	c.(4663-4668)cttgaafs	p.E1556fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1556					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGAGCTTCAAGATTCACAT	0.46																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(4663-4668)CTTGAAfs		AHNAK nucleoprotein isoform 1																																				SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297223_62297224insA	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.4666dupT	11.37:g.62297225_62297225dupA	ENSP00000367263:p.Glu1556fs					AHNAK_uc001ntk.1_Intron	p.L1555fs	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4965_4966	-		Melanoma(852;0.155)	1555_1556					A1A586	Frame_Shift_Ins	INS	ENST00000378024.4	37	c.4665_4666insT	CCDS31584.1																																																																																				0.460	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		56	141	NA	NA	NA	NA	NA	56	141	---	---	---	---
NXPE1	120400	broad.mit.edu	37	11	114401102	114401103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr11:114401102_114401103insA	ENST00000424269.1	-	2	626_627	c.627_628insT	c.(625-630)tttgttfs	p.V210fs	NXPE1_ENST00000251921.2_Frame_Shift_Ins_p.V68fs|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Frame_Shift_Ins_p.V210fs			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	210						extracellular region (GO:0005576)											GTGCCATTAACAAATTTGCCTT	0.47																																							uc001ppa.2		NA																	0					0						c.(199-204)TTTGTTfs		hypothetical protein LOC120400																																				SO:0001589	frameshift_variant	120400					extracellular region		g.chr11:114401102_114401103insA	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.628dupT	11.37:g.114401105_114401105dupA	ENSP00000411690:p.Val210fs					FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Frame_Shift_Ins_p.F209fs	p.F67fs	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	3	618_619	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	209_210					B0YJ13	Frame_Shift_Ins	INS	ENST00000424269.1	37	c.201_202insT																																																																																					0.470	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		13	45	NA	NA	NA	NA	NA	13	45	---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23728652	23728652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:23728652delG	ENST00000451604.2	-	10	1386	c.1285delC	c.(1285-1287)ctcfs	p.L429fs	SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Frame_Shift_Del_p.L416fs|SOX5_ENST00000537393.1_Frame_Shift_Del_p.L394fs|SOX5_ENST00000546136.1_Frame_Shift_Del_p.L416fs|SOX5_ENST00000545921.1_Frame_Shift_Del_p.L419fs|SOX5_ENST00000396007.2_Frame_Shift_Del_p.L43fs			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	429					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGCTTTGAGGGGGCCTGCC	0.488																																							uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(1285-1287)CTCfs		SRY (sex determining region Y)-box 5 isoform a							141.0	144.0	143.0					12																	23728652		2203	4300	6503	SO:0001589	frameshift_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23728652delG	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1285delC	12.37:g.23728652delG	ENSP00000398273:p.Leu429fs					SOX5_uc001rfx.2_Frame_Shift_Del_p.L416fs|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Frame_Shift_Del_p.L43fs|SOX5_uc010siv.1_Frame_Shift_Del_p.L416fs|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Frame_Shift_Del_p.L381fs	p.L429fs	NM_006940	NP_008871	P35711	SOX5_HUMAN			10	1387	-			429					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Frame_Shift_Del	DEL	ENST00000451604.2	37	c.1285delC	CCDS8699.1																																																																																				0.488	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		31	15	NA	NA	NA	NA	NA	31	15	---	---	---	---
ZNF10	7556	broad.mit.edu	37	12	133727739	133727739	+	Splice_Site	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr12:133727739delG	ENST00000248211.6	+	3	381	c.159delG	c.(157-159)ttg>tt	p.L53fs	ZNF10_ENST00000402932.2_Splice_Site_p.L53fs|CTD-2140B24.4_ENST00000540096.2_Splice_Site_p.L53fs|ZNF268_ENST00000416488.1_Splice_Site_p.L53fs|ZNF10_ENST00000426665.2_Splice_Site_p.L53fs	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	53	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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGGTTTCCTTGGGTAAGACTA	0.463																																							uc009zzb.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(157-159)TTGfs		zinc finger protein 10							160.0	151.0	154.0					12																	133727739		2203	4300	6503	SO:0001630	splice_region_variant	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133727739delG	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.160+1G>-	12.37:g.133727739delG						ZNF268_uc010tbv.1_5'UTR|ZNF10_uc001ulq.2_Frame_Shift_Del_p.L53fs	p.L53fs	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	3	606	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	53			KRAB.		B2RBS1|Q8TC91	Frame_Shift_Del	DEL	ENST00000248211.6	37	c.159delG	CCDS9283.1																																																																																				0.463	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394	Frame_Shift_Del	11	38	NA	NA	NA	NA	NA	11	38	---	---	---	---
DHRS12	79758	broad.mit.edu	37	13	52364174	52364174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr13:52364174delC	ENST00000444610.2	-	5	434	c.421delG	c.(421-423)gaafs	p.E141fs	DHRS12_ENST00000218981.1_Frame_Shift_Del_p.E92fs|DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Frame_Shift_Del_p.E92fs	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	141							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		AAGTTTTTTTCAAGTCCATCT	0.303																																							uc001vfq.2		NA																	0					0						c.(421-423)GAAfs		RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;							88.0	87.0	87.0					13																	52364174		2203	4298	6501	SO:0001589	frameshift_variant	79758						binding|oxidoreductase activity	g.chr13:52364174delC	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.421delG	13.37:g.52364174delC	ENSP00000411565:p.Glu141fs					DHRS12_uc001vfr.1_Frame_Shift_Del_p.E92fs|DHRS12_uc001vfs.1_Frame_Shift_Del_p.E92fs	p.E141fs			A0PJE2	DHR12_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	5	469	-		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)	141					Q96GB2|Q9H8H1	Frame_Shift_Del	DEL	ENST00000444610.2	37	c.421delG	CCDS58292.1																																																																																				0.303	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705		11	29	NA	NA	NA	NA	NA	11	29	---	---	---	---
SERPINA6	866	broad.mit.edu	37	14	94770871	94770871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr14:94770871delG	ENST00000341584.3	-	5	1248	c.1102delC	c.(1102-1104)ctafs	p.L368fs		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	368					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTCAGGTTTAGGGTGACCCCA	0.522																																							uc001ycv.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1102-1104)CTAfs		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						197.0	154.0	169.0					14																	94770871		2203	4300	6503	SO:0001589	frameshift_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94770871delG	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1102delC	14.37:g.94770871delG	ENSP00000342850:p.Leu368fs					SERPINA6_uc010auv.2_RNA	p.L368fs	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1206	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	368					A8K456|Q7Z2Q9	Frame_Shift_Del	DEL	ENST00000341584.3	37	c.1102delC	CCDS9924.1																																																																																				0.522	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		35	4	NA	NA	NA	NA	NA	35	4	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28377876	28377876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:28377876delC	ENST00000261609.7	-	80	12439	c.12331delG	c.(12331-12333)gacfs	p.D4111fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GTGTAGAGGTCCCCGGCTGCT	0.642																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(12331-12333)GACfs		hect domain and RLD 2							66.0	71.0	69.0					15																	28377876		2203	4300	6503	SO:0001589	frameshift_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.chr15:28377876delC	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.12331delG	15.37:g.28377876delC	ENSP00000261609:p.Asp4111fs						p.D4111fs	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)	80	12437	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4111			RCC1 16.			Frame_Shift_Del	DEL	ENST00000261609.7	37	c.12331delG	CCDS10021.1																																																																																				0.642	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		35	50	NA	NA	NA	NA	NA	35	50	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42021366	42021366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:42021366delG	ENST00000570161.1	+	10	3662	c.3662delG	c.(3661-3663)cggfs	p.R1221fs	MGA_ENST00000545763.1_Frame_Shift_Del_p.R1221fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.R1221fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.R1221fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.R1221fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTACAGATTCGGGAAGAGGAC	0.363																																							uc010ucy.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(3661-3663)CGGfs		MAX-interacting protein isoform 1							68.0	67.0	68.0					15																	42021366		1863	4102	5965	SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42021366delG	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3662delG	15.37:g.42021366delG	ENSP00000457035:p.Arg1221fs					MGA_uc010ucz.1_Frame_Shift_Del_p.R1221fs	p.R1221fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	11	3843	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1221					Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	c.3662delG	CCDS55959.1																																																																																				0.363	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		9	10	NA	NA	NA	NA	NA	9	10	---	---	---	---
MORF4L1	10933	broad.mit.edu	37	15	79189377	79189378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr15:79189377_79189378insT	ENST00000331268.5	+	13	1261_1262	c.1057_1058insT	c.(1057-1059)gctfs	p.A353fs	RNU6-415P_ENST00000516252.1_RNA|MORF4L1_ENST00000379535.4_Frame_Shift_Ins_p.A339fs|MORF4L1_ENST00000426013.2_Frame_Shift_Ins_p.A314fs|MORF4L1_ENST00000558502.1_Frame_Shift_Ins_p.A226fs|MORF4L1_ENST00000559345.1_Frame_Shift_Ins_p.A226fs|MORF4L1_ENST00000561171.1_3'UTR	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	353	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TTATGAAGTGGCTCCTCCTGAG	0.376																																							uc002bel.2		NA																	0					0						c.(1057-1059)GCTfs		MORF-related gene 15 isoform 2																																				SO:0001589	frameshift_variant	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79189377_79189378insT	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	Exception_encountered	15.37:g.79189377_79189378insT	ENSP00000331310:p.Ala353fs					MORF4L1_uc002bem.2_Frame_Shift_Ins_p.A314fs|MORF4L1_uc010une.1_Frame_Shift_Ins_p.A226fs	p.A353fs	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN			13	1245_1246	+			353					B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Frame_Shift_Ins	INS	ENST00000331268.5	37	c.1057_1058insT	CCDS10307.1																																																																																				0.376	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		13	29	NA	NA	NA	NA	NA	13	29	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72829861	72829862	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr16:72829861_72829862insC	ENST00000268489.5	-	9	7391_7392	c.6719_6720insG	c.(6718-6720)ggafs	p.G2240fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.G1326fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2240					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACCTCTTGCTTCCCCAGTACTC	0.515																																							uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(6718-6720)GGAfs		zinc finger homeobox 3 isoform A																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829861_72829862insC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6720dupG	16.37:g.72829865_72829865dupC	ENSP00000268489:p.Gly2240fs					ZFHX3_uc002fcl.2_Frame_Shift_Ins_p.G1326fs	p.G2240fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	7392_7393	-		Ovarian(137;0.13)	2240					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.6719_6720insG	CCDS10908.1																																																																																				0.515	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		45	61	NA	NA	NA	NA	NA	45	61	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11645507	11645507	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:11645507delG	ENST00000262442.4	+	30	6056	c.5988delG	c.(5986-5988)gtgfs	p.V1997fs	AC005701.1_ENST00000584990.1_RNA|DNAH9_ENST00000454412.2_Frame_Shift_Del_p.V1997fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1997	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCAATGGTGGTTCCAGACT	0.453																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5986-5988)GTGfs		dynein, axonemal, heavy chain 9 isoform 2							177.0	160.0	166.0					17																	11645507		2203	4300	6503	SO:0001589	frameshift_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11645507delG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5988delG	17.37:g.11645507delG	ENSP00000262442:p.Val1997fs					DNAH9_uc010coo.2_Frame_Shift_Del_p.V1290fs	p.V1996fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	30	6056	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1996			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Del	DEL	ENST00000262442.4	37	c.5988delG	CCDS11160.1																																																																																				0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		61	15	NA	NA	NA	NA	NA	61	15	---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30380301	30380301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:30380301delG	ENST00000341671.7	+	12	2803	c.2798delG	c.(2797-2799)aggfs	p.R933fs	LRRC37B_ENST00000394713.3_Frame_Shift_Del_p.R882fs|LRRC37B_ENST00000327564.7_Frame_Shift_Del_p.R960fs|LRRC37B_ENST00000584368.1_Frame_Shift_Del_p.R894fs|LRRC37B_ENST00000543378.2_Frame_Shift_Del_p.R851fs	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	933						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCACATAAAAGGGCATCAGAA	0.338																																							uc002hgu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2797-2799)AGGfs		leucine rich repeat containing 37B precursor							82.0	79.0	80.0					17																	30380301		2203	4300	6503	SO:0001589	frameshift_variant	114659					integral to membrane		g.chr17:30380301delG	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2798delG	17.37:g.30380301delG	ENSP00000340519:p.Arg933fs					LRRC37B_uc010wbx.1_Frame_Shift_Del_p.R851fs|LRRC37B_uc010csu.2_Frame_Shift_Del_p.R882fs	p.R933fs	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			12	2809	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	933			Cytoplasmic (Potential).		Q17RC9|Q5YKG6	Frame_Shift_Del	DEL	ENST00000341671.7	37	c.2798delG	CCDS32609.1																																																																																				0.338	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		15	41	NA	NA	NA	NA	NA	15	41	---	---	---	---
USH1G	124590	broad.mit.edu	37	17	72916480	72916480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr17:72916480delC	ENST00000319642.1	-	2	633	c.451delG	c.(451-453)gccfs	p.A151fs		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	151					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCAGCTTGGCGCACTCGCGG	0.677																																							uc002jme.1		NA																	0				skin(2)	2						c.(451-453)GCCfs		Usher syndrome 1G protein							69.0	49.0	56.0					17																	72916480		2203	4300	6503	SO:0001589	frameshift_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916480delC	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.451delG	17.37:g.72916480delC	ENSP00000320076:p.Ala151fs					USH1G_uc010wro.1_Frame_Shift_Del_p.A48fs	p.A151fs	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			2	634	-	all_lung(278;0.172)|Lung NSC(278;0.207)		151					Q8N251	Frame_Shift_Del	DEL	ENST00000319642.1	37	c.451delG	CCDS32725.1																																																																																				0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		14	65	NA	NA	NA	NA	NA	14	65	---	---	---	---
IGFLR1	79713	broad.mit.edu	37	19	36230358	36230358	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:36230358delG	ENST00000592537.1	-	5	991	c.891delC	c.(889-891)accfs	p.T297fs	IGFLR1_ENST00000246532.1_Frame_Shift_Del_p.T297fs|IGFLR1_ENST00000588992.1_Frame_Shift_Del_p.T129fs|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000587101.1_5'Flank|IGFLR1_ENST00000344990.3_Frame_Shift_Del_p.T109fs|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Frame_Shift_Del_p.T109fs			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AATAGGCAAAGGTGGACCAGG	0.647																																							uc002obc.2		NA																	0					0						c.(889-891)ACCfs		transmembrane protein 149 precursor							44.0	40.0	41.0					19																	36230358		2203	4300	6503	SO:0001589	frameshift_variant	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230358delG	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.891delC	19.37:g.36230358delG	ENSP00000466181:p.Thr297fs					TMEM149_uc002obb.2_Frame_Shift_Del_p.T109fs|TMEM149_uc002obd.3_Frame_Shift_Del_p.T297fs|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Frame_Shift_Del_p.T377fs	p.T297fs	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	992	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		297			Cytoplasmic (Potential).		Q8N5X0	Frame_Shift_Del	DEL	ENST00000592537.1	37	c.891delC	CCDS12472.1																																																																																				0.647	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		26	26	NA	NA	NA	NA	NA	26	26	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50158112	50158113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:50158112_50158113insG	ENST00000360565.3	+	9	3727_3728	c.3603_3604insG	c.(3604-3606)gggfs	p.G1202fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1202	Necessary for interaction with the CTD domain of POLR2A.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGAGGGCCGTGGGGACACAGA	0.663																																							uc002poq.2		NA																	0					0						c.(3601-3606)CGTGGGfs		SR-related CTD-associated factor 1																																				SO:0001589	frameshift_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50158112_50158113insG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3607dupG	19.37:g.50158116_50158116dupG	ENSP00000353769:p.Gly1202fs						p.R1201fs	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	9	3727_3728	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1201_1202			Necessary for interaction with the CTD domain of POLR2A.		Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Ins	INS	ENST00000360565.3	37	c.3603_3604insG	CCDS33074.1																																																																																				0.663	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		8	19	NA	NA	NA	NA	NA	8	19	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GCA	GCA	-	-	GCA	GCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																							uc002pwt.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(22-27)CTGCCC>CCC		sialic acid binding Ig-like lectin 8 precursor																																				SO:0001651	inframe_deletion	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961617_51961619delGCA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del					SIGLEC8_uc010yda.1_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del	p.L8del	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	90_92	-		all_neural(266;0.0199)	8					Q7Z728	In_Frame_Del	DEL	ENST00000321424.3	37	c.23_25delTGC	CCDS33086.1																																																																																				0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		7	103	NA	NA	NA	NA	NA	7	103	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401359	54401360	+	Frame_Shift_Ins	INS	-	-	G	rs142359778		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:54401359_54401360insG	ENST00000263431.3	+	10	1368_1369	c.1086_1087insG	c.(1087-1089)gggfs	p.G363fs	PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000542049.1_Frame_Shift_Ins_p.G250fs|PRKCG_ENST00000540413.1_Frame_Shift_Ins_p.G363fs	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	AAGGCAGTTTTGGGAAGGTTGG	0.569																																							uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1084-1089)TTTGGGfs		protein kinase C, gamma																																				SO:0001589	frameshift_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.chr19:54401359_54401360insG	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.1089dupG	19.37:g.54401362_54401362dupG	ENSP00000263431:p.Gly363fs					PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Frame_Shift_Ins_p.F362fs|PRKCG_uc010yeh.1_Frame_Shift_Ins_p.F249fs	p.F362fs	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	10	1368_1369	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		362_363			ATP (By similarity).|Protein kinase.		B7Z8Q0	Frame_Shift_Ins	INS	ENST00000263431.3	37	c.1086_1087insG	CCDS12867.1																																																																																				0.569	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		14	19	NA	NA	NA	NA	NA	14	19	---	---	---	---
TNNI3	7137	broad.mit.edu	37	19	55665575	55665576	+	Splice_Site	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr19:55665575_55665576insA	ENST00000344887.5	-	7	515		c.e7-1		TNNI3_ENST00000590463.1_5'Flank|TNNI3_ENST00000588882.1_Splice_Site	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)						cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GATCTGCAATCTGGGGGCAAAC	0.53																																							uc002qjg.3		NA																	0				lung(1)|pancreas(1)	2						c.e7-1		troponin I, cardiac																																				SO:0001630	splice_region_variant	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55665575_55665576insA	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.373-1->T	19.37:g.55665575_55665576insA						TNNI3_uc010yft.1_Splice_Site_p.I117_splice	p.I125_splice	NM_000363	NP_000354	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	373	-									Splice_Site	INS	ENST00000344887.5	37	c.373_splice	CCDS42628.1																																																																																				0.530	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1		Intron	26	29	NA	NA	NA	NA	NA	26	29	---	---	---	---
SSTR4	6754	broad.mit.edu	37	20	23016582	23016582	+	Frame_Shift_Del	DEL	G	G	-	rs35140595	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:23016582delG	ENST00000255008.3	+	1	526	c.462delG	c.(460-462)gcgfs	p.A155fs	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	155					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTCTGCGCGCGGCGACCTACC	0.657																																					Esophageal Squamous(15;850 1104 16640)	Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	0				ovary(1)	1						c.(460-462)GCGfs		somatostatin receptor 4							48.0	52.0	51.0					20																	23016582		2200	4294	6494	SO:0001589	frameshift_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016582delG		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.462delG	20.37:g.23016582delG	ENSP00000255008:p.Ala155fs						p.A154fs	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	526	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		154			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Frame_Shift_Del	DEL	ENST00000255008.3	37	c.462delG	CCDS42856.1																																																																																				0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			20	27	NA	NA	NA	NA	NA	20	27	---	---	---	---
PABPC1L	80336	broad.mit.edu	37	20	43561038	43561038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:43561038delC	ENST00000217073.2	+	9	1295	c.1295delC	c.(1294-1296)gccfs	p.A432fs	PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000255136.3_Frame_Shift_Del_p.A432fs|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000372824.1_5'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	432	Pro-rich.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						ACCCAGCCTGCCCCCAGGTGG	0.632																																							uc010ggv.1		NA																	0				ovary(1)	1						c.(1294-1296)GCCfs		poly(A)-binding protein, cytoplasmic 1-like							56.0	61.0	60.0					20																	43561038		1568	3582	5150	SO:0001589	frameshift_variant	80336						nucleotide binding|RNA binding	g.chr20:43561038delC	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1295delC	20.37:g.43561038delC	ENSP00000217073:p.Ala432fs					PABPC1L_uc010zwq.1_Intron|PABPC1L_uc002xmv.2_Intron|PABPC1L_uc002xmw.2_5'UTR|PABPC1L_uc002xmx.2_5'UTR	p.A432fs	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			9	1377	+			432			Pro-rich.		Q4VY17	Frame_Shift_Del	DEL	ENST00000217073.2	37	c.1295delC	CCDS42878.1																																																																																				0.632	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			15	38	NA	NA	NA	NA	NA	15	38	---	---	---	---
PI3	5266	broad.mit.edu	37	20	43804522	43804522	+	Frame_Shift_Del	DEL	A	A	-	rs2664581	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:43804522delA	ENST00000243924.3	+	2	147	c.100delA	c.(100-102)actfs	p.T34fs		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	34	2 X tandem repeats of SVP-1 like motif.		T -> P (in dbSNP:rs2664581).		copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				AGGTCAAGACACTGTCAAAGG	0.453																																							uc002xng.2		NA																	0					0						c.(100-102)ACTfs		elafin preproprotein							106.0	98.0	101.0					20																	43804522		2203	4300	6503	SO:0001589	frameshift_variant	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804522delA	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.100delA	20.37:g.43804522delA	ENSP00000243924:p.Thr34fs						p.T34fs	NM_002638	NP_002629	P19957	ELAF_HUMAN			2	124	+		Myeloproliferative disorder(115;0.0122)	34			SVP-1 clotting 1.|2 X tandem repeats of SVP-1 like motif.		E1P618|Q6FG74	Frame_Shift_Del	DEL	ENST00000243924.3	37	c.100delA	CCDS13344.1																																																																																				0.453	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		30	71	NA	NA	NA	NA	NA	30	71	---	---	---	---
WFDC8	90199	broad.mit.edu	37	20	44187578	44187578	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:44187578delC	ENST00000357199.4	-	3	268	c.190delG	c.(190-192)gacfs	p.D64fs	RNA5SP485_ENST00000365053.1_RNA|WFDC8_ENST00000289953.2_Frame_Shift_Del_p.D64fs	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	64	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTACATGAGTCCGGAAGTTCA	0.448																																							uc002xow.2		NA																	0					0						c.(190-192)GACfs		WAP four-disulfide core domain 8 precursor							195.0	175.0	182.0					20																	44187578		2203	4300	6503	SO:0001589	frameshift_variant	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44187578delC	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.190delG	20.37:g.44187578delC	ENSP00000361735:p.Asp64fs					WFDC8_uc002xox.2_Frame_Shift_Del_p.D64fs	p.D64fs	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			3	269	-		Myeloproliferative disorder(115;0.0122)	64			WAP 1.		E1P623|Q5TDV2|Q96A34	Frame_Shift_Del	DEL	ENST00000357199.4	37	c.190delG	CCDS13361.1																																																																																				0.448	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			48	75	NA	NA	NA	NA	NA	48	75	---	---	---	---
UBE2C	11065	broad.mit.edu	37	20	44441431	44441431	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr20:44441431delA	ENST00000356455.4	+	1	217	c.97delA	c.(97-99)aaafs	p.K33fs	UBE2C_ENST00000405520.1_5'UTR|UBE2C_ENST00000372568.4_5'Flank|UBE2C_ENST00000352551.5_Frame_Shift_Del_p.K33fs|UBE2C_ENST00000335046.3_Frame_Shift_Del_p.K33fs|UBE2C_ENST00000243893.6_Frame_Shift_Del_p.K33fs	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	33					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TCCGGTGGGCAAAAGGTGAGT	0.692																																							uc002xpm.2		NA																	0					0						c.(97-99)AAAfs		ubiquitin-conjugating enzyme E2C isoform 1							6.0	10.0	9.0					20																	44441431		2050	4020	6070	SO:0001589	frameshift_variant	11065				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr20:44441431delA	U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.97delA	20.37:g.44441431delA	ENSP00000348838:p.Lys33fs					UBE2C_uc002xpl.2_Frame_Shift_Del_p.K33fs|UBE2C_uc002xpn.2_5'UTR|UBE2C_uc002xpo.2_Frame_Shift_Del_p.K33fs|UBE2C_uc002xpp.2_Frame_Shift_Del_p.K33fs|UBE2C_uc002xpq.2_5'Flank	p.K33fs	NM_007019	NP_008950	O00762	UBE2C_HUMAN			1	177	+		Myeloproliferative disorder(115;0.0122)	33					A6NP33|E1P5N7|G3XAB7	Frame_Shift_Del	DEL	ENST00000356455.4	37	c.97delA	CCDS13370.1																																																																																				0.692	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2	NM_007019		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
TTLL12	23170	broad.mit.edu	37	22	43570312	43570312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:43570312delC	ENST00000216129.6	-	8	1195	c.1132delG	c.(1132-1134)gcafs	p.A378fs	TTLL12_ENST00000484118.1_5'UTR|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	378	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGGCCACCTGCCCGGCGCGCG	0.652																																							uc003bdq.2		NA																	0				central_nervous_system(1)	1						c.(1132-1134)GCAfs		tubulin tyrosine ligase-like family, member 12							46.0	52.0	50.0					22																	43570312		2203	4299	6502	SO:0001589	frameshift_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43570312delC	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1132delG	22.37:g.43570312delC	ENSP00000216129:p.Ala378fs					TTLL12_uc003bdr.1_Frame_Shift_Del_p.A378fs	p.A378fs	NM_015140	NP_055955	Q14166	TTL12_HUMAN			8	1164	-		Ovarian(80;0.221)|Glioma(61;0.222)	378			TTL.		Q20WK5|Q9UGU3	Frame_Shift_Del	DEL	ENST00000216129.6	37	c.1132delG	CCDS14047.1																																																																																				0.652	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		22	47	NA	NA	NA	NA	NA	22	47	---	---	---	---
MAPK8IP2	23542	broad.mit.edu	37	22	51041769	51041771	+	In_Frame_Del	DEL	GAG	GAG	-	rs572434194	byFrequency	TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr22:51041769_51041771delGAG	ENST00000329492.3	+	3	406_408	c.289_291delGAG	c.(289-291)gagdel	p.E103del	MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000442429.2_In_Frame_Del_p.E103del|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_In_Frame_Del_p.E76del|MAPK8IP2_ENST00000399908.2_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	103	Asp/Glu-rich (acidic).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.E97delE(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ggacgaggaagaggaggaggagg	0.631														10	0.00199681	0.003	0.0014	5008	,	,		18122	0.001		0.0	False		,,,				2504	0.0041						uc003bmx.2		NA																	1	Deletion - In frame(1)		prostate(1)	large_intestine(2)|central_nervous_system(1)	3						c.(289-291)GAGdel		mitogen-activated protein kinase 8 interacting			,	17,100,3819		3,0,11,9,82,1863					,	-7.2	0.1			25	5,202,7773		0,0,5,21,160,3804	no	codingComplex,codingComplex	MAPK8IP2	NM_016431.3,NM_012324.3	,	3,0,16,30,242,5667	A1A1,A1A2,A1R,A2A2,A2R,RR		2.594,2.9726,2.719	,	,		22,302,11592				SO:0001651	inframe_deletion	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51041769_51041771delGAG	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.289_291delGAG	22.37:g.51041778_51041780delGAG	ENSP00000330572:p.Glu103del					MAPK8IP2_uc003bmy.2_In_Frame_Del_p.E76del|MAPK8IP2_uc011asc.1_5'Flank	p.E103del	NM_012324	NP_036456	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	406_408	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	103			Asp/Glu-rich (acidic).		Q96G62|Q99771|Q9NZ59|Q9UKQ4	In_Frame_Del	DEL	ENST00000329492.3	37	c.289_291delGAG																																																																																					0.631	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012324		3	4	NA	NA	NA	NA	NA	3	4	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2967431	2967431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:2967431delG	ENST00000397461.1	+	12	1710	c.1326delG	c.(1324-1326)aagfs	p.K443fs	CNTN4_ENST00000448906.2_Frame_Shift_Del_p.K115fs|CNTN4_ENST00000418658.1_Frame_Shift_Del_p.K443fs|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Frame_Shift_Del_p.K224fs|CNTN4_ENST00000397459.2_Frame_Shift_Del_p.K115fs|CNTN4_ENST00000427331.1_Frame_Shift_Del_p.K443fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	443	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACACCTGGAAGAAAGGAAGGG	0.338																																							uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1324-1326)AAGfs		contactin 4 isoform a precursor							112.0	121.0	118.0					3																	2967431		2203	4300	6503	SO:0001589	frameshift_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.chr3:2967431delG	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.1326delG	3.37:g.2967431delG	ENSP00000380602:p.Lys443fs					CNTN4_uc003bpb.1_Frame_Shift_Del_p.K114fs|CNTN4_uc003bpd.1_Frame_Shift_Del_p.K442fs|CNTN4_uc003bpe.2_Frame_Shift_Del_p.K114fs|CNTN4_uc003bpf.2_Frame_Shift_Del_p.K114fs	p.K442fs	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	12	1547	+		Ovarian(110;0.156)	442			Ig-like C2-type 5.		B2RAX3|Q8IX14|Q8TC35	Frame_Shift_Del	DEL	ENST00000397461.1	37	c.1326delG	CCDS43041.1																																																																																				0.338	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			46	9	NA	NA	NA	NA	NA	46	9	---	---	---	---
SLC6A1	6529	broad.mit.edu	37	3	11059079	11059079	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:11059079delC	ENST00000287766.4	+	3	603	c.182delC	c.(181-183)gccfs	p.A61fs	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	61					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GTGGGCTATGCCATCGGCCTG	0.632																																							uc010hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(181-183)GCCfs		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						69.0	73.0	72.0					3																	11059079		2203	4300	6503	SO:0001589	frameshift_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11059079delC		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.182delC	3.37:g.11059079delC	ENSP00000287766:p.Ala61fs						p.A61fs	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	3	593	+		Ovarian(110;0.0392)	61			Helical; Name=1; (Potential).		Q8N4K8	Frame_Shift_Del	DEL	ENST00000287766.4	37	c.182delC	CCDS2603.1																																																																																				0.632	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		35	6	NA	NA	NA	NA	NA	35	6	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100988399	100988400	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr3:100988399_100988400insA	ENST00000193391.7	-	8	1033_1034	c.846_847insT	c.(844-849)actgggfs	p.G283fs		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	283	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CCTGGTAACCCAGTAAATGCAT	0.262																																							uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(844-849)ACTGGGfs		interphotoreceptor matrix proteoglycan 2																																				SO:0001589	frameshift_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100988399_100988400insA	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.847dupT	3.37:g.100988400_100988400dupA	ENSP00000193391:p.Gly283fs					IMPG2_uc011bhe.1_Frame_Shift_Ins_p.T145fs	p.T282fs	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			8	1049_1050	-			282_283			Extracellular (Potential).|SEA 1.		A8MWT5|Q9UKD4|Q9UKK5	Frame_Shift_Ins	INS	ENST00000193391.7	37	c.846_847insT	CCDS2940.1																																																																																				0.262	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			15	43	NA	NA	NA	NA	NA	15	43	---	---	---	---
NEIL3	55247	broad.mit.edu	37	4	178262723	178262723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr4:178262723delT	ENST00000264596.3	+	6	914	c.796delT	c.(796-798)tttfs	p.F266fs	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	266					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TGTGTGCCGCTTTGGGGACAA	0.393								Base excision repair (BER), DNA glycosylases																															uc003iut.2		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(796-798)TTTfs	BER_DNA_glycosylases	nei endonuclease VIII-like 3							99.0	89.0	92.0					4																	178262723		2203	4300	6503	SO:0001589	frameshift_variant	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178262723delT	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.796delT	4.37:g.178262723delT	ENSP00000264596:p.Phe266fs					NEIL3_uc010irs.2_Intron	p.F266fs	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	6	913	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	266			FPG-type.		Q2PPJ3|Q8NG51|Q9NV95	Frame_Shift_Del	DEL	ENST00000264596.3	37	c.796delT	CCDS3828.1																																																																																				0.393	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		29	9	NA	NA	NA	NA	NA	29	9	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175318	140175319	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:140175318_140175319insT	ENST00000526136.1	+	1	769_770	c.769_770insT	c.(769-771)aatfs	p.N257fs	PCDHA2_ENST00000378132.1_Frame_Shift_Ins_p.N257fs|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Frame_Shift_Ins_p.N257fs	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	257	Cadherin 3. {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(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATACGGCAAATGGGACCTTA	0.396																																							uc003lhd.2		NA																	0				ovary(4)	4						c.(769-771)AATfs		protocadherin alpha 2 isoform 1 precursor																																				SO:0001589	frameshift_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175318_140175319insT	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		Exception_encountered	5.37:g.140175318_140175319insT	ENSP00000431748:p.Asn257fs					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Frame_Shift_Ins_p.N257fs|PCDHA2_uc011czy.1_Frame_Shift_Ins_p.N257fs	p.N257fs	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	875_876	+			257			Cadherin 3.|Extracellular (Potential).		O75287|Q9BTV3	Frame_Shift_Ins	INS	ENST00000526136.1	37	c.769_770insT	CCDS54914.1																																																																																				0.396	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		31	11	NA	NA	NA	NA	NA	31	11	---	---	---	---
DRD1	1812	broad.mit.edu	37	5	174869713	174869713	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr5:174869713delC	ENST00000393752.2	-	2	1382	c.390delG	c.(388-390)cggfs	p.R130fs		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	130					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TTCTCTCATACCGGAAAGGGC	0.537																																							uc003mcz.2		NA																	0				ovary(2)|skin(1)	3						c.(388-390)CGGfs		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						102.0	107.0	105.0					5																	174869713		2203	4300	6503	SO:0001589	frameshift_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869713delC	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.390delG	5.37:g.174869713delC	ENSP00000377353:p.Arg130fs						p.R130fs	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1335	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	130			Cytoplasmic (Potential).		B2RA44|Q4QRJ0	Frame_Shift_Del	DEL	ENST00000393752.2	37	c.390delG	CCDS4393.1																																																																																				0.537	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		22	12	NA	NA	NA	NA	NA	22	12	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43306801	43306801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:43306801delG	ENST00000361428.2	-	10	5012	c.4935delC	c.(4933-4935)cccfs	p.P1645fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1645					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTTTTGCAATGGGCTTTTCAG	0.488																																							uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(4933-4935)CCCfs		zinc finger protein 318							120.0	122.0	121.0					6																	43306801		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43306801delG	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4935delC	6.37:g.43306801delG	ENSP00000354964:p.Pro1645fs					ZNF318_uc003ouw.2_Intron	p.P1645fs	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5013	-			1645					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.4935delC	CCDS4895.2																																																																																				0.488	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		66	29	NA	NA	NA	NA	NA	66	29	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46979916	46979917	+	Frame_Shift_Ins	INS	-	-	A	rs552567295|rs149395001		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:46979916_46979917insA	ENST00000371253.2	-	10	1157_1158	c.942_943insT	c.(940-945)attgtafs	p.V315fs	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Frame_Shift_Ins_p.V118fs	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	315					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCATTGCCTACAATCATACTGA	0.411																																							uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(940-945)ATTGTAfs		G-protein coupled receptor 110 isoform 1																																				SO:0001589	frameshift_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46979916_46979917insA	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.943dupT	6.37:g.46979918_46979918dupA	ENSP00000360299:p.Val315fs					GPR110_uc011dwl.1_Frame_Shift_Ins_p.I2fs	p.I314fs	NM_153840	NP_722582	Q5T601	GP110_HUMAN			10	1141_1142	-			314_315			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Frame_Shift_Ins	INS	ENST00000371253.2	37	c.942_943insT	CCDS34471.1																																																																																				0.411	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		27	63	NA	NA	NA	NA	NA	27	63	---	---	---	---
GCLC	2729	broad.mit.edu	37	6	53373448	53373449	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:53373448_53373449insA	ENST00000229416.6	-	8	1372_1373	c.889_890insT	c.(889-891)tggfs	p.W297fs	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	297					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	AATCACTCCCCAGCGACAATCA	0.446																																							uc003pbw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(889-891)TGGfs		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53373448_53373449insA	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.890dupT	6.37:g.53373449_53373449dupA	ENSP00000229416:p.Trp297fs					GCLC_uc003pbv.1_Frame_Shift_Ins_p.W21fs	p.W297fs	NM_001498	NP_001489	P48506	GSH1_HUMAN			8	1277_1278	-	Lung NSC(77;0.0137)		297					Q14399	Frame_Shift_Ins	INS	ENST00000229416.6	37	c.889_890insT	CCDS4952.1																																																																																				0.446	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			22	85	NA	NA	NA	NA	NA	22	85	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64422676	64422676	+	Frame_Shift_Del	DEL	C	C	-	rs149370303		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr6:64422676delC	ENST00000262043.3	+	16	5532	c.5192delC	c.(5191-5193)tctfs	p.S1731fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.S1731fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1731					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			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)			ATACAGACTTCTCAAGCAGAA	0.393																																					GBM(135;136 1820 29512 34071 46235)	GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(5191-5193)TCTfs		PHD finger protein 3							72.0	74.0	73.0					6																	64422676		2202	4300	6502	SO:0001589	frameshift_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422676delC	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.5192delC	6.37:g.64422676delC	ENSP00000262043:p.Ser1731fs					PHF3_uc003pen.2_Frame_Shift_Del_p.S1643fs|PHF3_uc011dxs.1_Frame_Shift_Del_p.S1000fs	p.S1731fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	5218	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1731					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	ENST00000262043.3	37	c.5192delC	CCDS4966.1																																																																																				0.393	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			15	16	NA	NA	NA	NA	NA	15	16	---	---	---	---
HOXA13	3209	broad.mit.edu	37	7	27238965	27238965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:27238965delC	ENST00000222753.4	-	1	760	c.732delG	c.(730-732)cagfs	p.Q244fs	HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	244					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CAGGCATGGGCTGATGGTGGT	0.667			T	NUP98	AML																																		uc003szb.1		NA		Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)	1						c.(730-732)CAGfs		homeobox A13							41.0	45.0	43.0					7																	27238965		2203	4300	6503	SO:0001589	frameshift_variant	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27238965delC		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.732delG	7.37:g.27238965delC	ENSP00000222753:p.Gln244fs					uc003szc.1_5'Flank	p.Q244fs	NM_000522	NP_000513	P31271	HXA13_HUMAN			1	761	-			244					A4D188|O43371	Frame_Shift_Del	DEL	ENST00000222753.4	37	c.732delG	CCDS5412.1																																																																																				0.667	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			22	23	NA	NA	NA	NA	NA	22	23	---	---	---	---
PON2	5445	broad.mit.edu	37	7	95039225	95039225	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:95039225delG	ENST00000222572.3	-	6	929	c.683delC	c.(682-684)tcafs	p.S228fs	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000536183.1_Frame_Shift_Del_p.S249fs|PON2_ENST00000433091.2_Frame_Shift_Del_p.S216fs			Q15165	PON2_HUMAN	paraoxonase 2	228					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ATCATCAGGTGAAATATTGAT	0.353																																					GBM(42;803 823 13649 23368 31463)	GBM(42;803 823 13649 23368 31463)	uc003unv.2		NA																	0					0						c.(682-684)TCAfs		paraoxonase 2 isoform 1							143.0	143.0	143.0					7																	95039225		2203	4300	6503	SO:0001589	frameshift_variant	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95039225delG	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.683delC	7.37:g.95039225delG	ENSP00000222572:p.Ser228fs					PON2_uc003unu.2_Frame_Shift_Del_p.S216fs|PON2_uc010lfk.2_Intron|PON2_uc003unw.2_Frame_Shift_Del_p.S141fs	p.S228fs	NM_000305	NP_000296	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	804	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		228					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Frame_Shift_Del	DEL	ENST00000222572.3	37	c.683delC	CCDS5640.1																																																																																				0.353	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		40	111	NA	NA	NA	NA	NA	40	111	---	---	---	---
NAPEPLD	222236	broad.mit.edu	37	7	102769241	102769242	+	Splice_Site	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:102769241_102769242insA	ENST00000417955.1	-	2	139		c.e2-2		NAPEPLD_ENST00000427257.1_Splice_Site|NAPEPLD_ENST00000465647.1_Splice_Site|NAPEPLD_ENST00000341533.4_Splice_Site|NAPEPLD_ENST00000455523.2_Splice_Site			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D						phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGAAGAACTAAAAAAAACAA	0.337																																							uc003vbc.2		NA																	0				skin(1)	1						c.e2-1		N-acyl phosphatidylethanolamine phospholipase D																																				SO:0001630	splice_region_variant	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102769241_102769242insA	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.16-2->T	7.37:g.102769249_102769249dupA						NAPEPLD_uc003vbd.2_Splice_Site|NAPEPLD_uc011klj.1_Splice_Site_p.S68_splice|NAPEPLD_uc003vbe.2_Splice_Site|NAPEPLD_uc003vbf.2_Intron		NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN			2	313	-								Q5CZ87|Q769K1	Splice_Site	INS	ENST00000417955.1	37	c.-15_splice	CCDS5729.1																																																																																				0.337	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990	Intron	16	51	NA	NA	NA	NA	NA	16	51	---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107745057	107745057	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:107745057delC	ENST00000388781.3	-	9	961	c.878delG	c.(877-879)ggtfs	p.G293fs	LAMB4_ENST00000418464.1_Frame_Shift_Del_p.G293fs|LAMB4_ENST00000205386.4_Frame_Shift_Del_p.G293fs|LAMB4_ENST00000388780.3_Frame_Shift_Del_p.G293fs|LAMB4_ENST00000414450.2_Frame_Shift_Del_p.G293fs	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	293	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACACACTGACCGTGAACCTG	0.502																																							uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(877-879)GGTfs		laminin, beta 4 precursor							232.0	214.0	220.0					7																	107745057		2203	4300	6503	SO:0001589	frameshift_variant	22798				cell adhesion	basement membrane		g.chr7:107745057delC	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.878delG	7.37:g.107745057delC	ENSP00000373433:p.Gly293fs					LAMB4_uc003vey.2_Frame_Shift_Del_p.G293fs	p.G293fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			9	962	-			293			Laminin EGF-like 1.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Frame_Shift_Del	DEL	ENST00000388781.3	37	c.878delG	CCDS34732.1																																																																																				0.502	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		62	178	NA	NA	NA	NA	NA	62	178	---	---	---	---
EPHA1	2041	broad.mit.edu	37	7	143096462	143096462	+	Frame_Shift_Del	DEL	A	A	-	rs372725643		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr7:143096462delA	ENST00000275815.3	-	5	966	c.880delT	c.(880-882)tgtfs	p.C294fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	294	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|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 cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CACGTGAGACAATGGGGTGTG	0.602																																							uc003wcz.2		NA																	0				ovary(3)|lung(1)|breast(1)	5						c.(880-882)TGTfs		ephrin receptor EphA1 precursor							43.0	39.0	41.0					7																	143096462		2203	4300	6503	SO:0001589	frameshift_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096462delA	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.880delT	7.37:g.143096462delA	ENSP00000275815:p.Cys294fs						p.C294fs	NM_005232	NP_005223	P21709	EPHA1_HUMAN			5	967	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	294			Extracellular (Potential).|Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Frame_Shift_Del	DEL	ENST00000275815.3	37	c.880delT	CCDS5884.1																																																																																				0.602	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			10	20	NA	NA	NA	NA	NA	10	20	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885757	88885757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:88885757delC	ENST00000319675.3	-	1	539	c.443delG	c.(442-444)ggafs	p.G148fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	148										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ATCTGCAAGTCCCACGAAGCA	0.547																																							uc003ydz.2		NA																	0				ovary(1)	1						c.(442-444)GGAfs		WD repeat domain 21C							96.0	90.0	92.0					8																	88885757		2203	4300	6503	SO:0001589	frameshift_variant	138009							g.chr8:88885757delC	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.443delG	8.37:g.88885757delC	ENSP00000316496:p.Gly148fs						p.G148fs	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	540	-			148						Frame_Shift_Del	DEL	ENST00000319675.3	37	c.443delG	CCDS6245.1																																																																																				0.547	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		9	56	NA	NA	NA	NA	NA	9	56	---	---	---	---
ABRA	137735	broad.mit.edu	37	8	107782411	107782411	+	Frame_Shift_Del	DEL	G	G	-	rs149782926		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr8:107782411delG	ENST00000311955.3	-	1	62	c.8delC	c.(7-9)ccgfs	p.P3fs		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTTCGCCCGGAGCCATGCT	0.592																																							uc003ymm.3		NA																	0				ovary(2)	2						c.(7-9)CCGfs		actin-binding Rho activating protein							31.0	35.0	34.0					8																	107782411		2202	4291	6493	SO:0001589	frameshift_variant	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782411delG	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.8delC	8.37:g.107782411delG	ENSP00000311436:p.Pro3fs						p.P3fs	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	62	-			3						Frame_Shift_Del	DEL	ENST00000311955.3	37	c.8delC	CCDS6305.1																																																																																				0.592	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		37	13	NA	NA	NA	NA	NA	37	13	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012689	6012690	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:6012689_6012690insT	ENST00000259569.5	-	1	2928_2929	c.2918_2919insA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TAGCAATGACATTTTTTTTGGT	0.356																																							uc003zjr.2		NA																	1	Deletion - Frameshift(1)		ovary(1)	ovary(3)	3						c.(2917-2919)AATfs		RAN binding protein 6																																				SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012689_6012690insT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2919dupA	9.37:g.6012697_6012697dupT	ENSP00000259569:p.Asn973fs					RANBP6_uc011lmf.1_Frame_Shift_Ins_p.N621fs|RANBP6_uc003zjs.2_Frame_Shift_Ins_p.N561fs	p.N973fs	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2929_2930	-		Acute lymphoblastic leukemia(23;0.158)	973			HEAT 7.		Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Ins	INS	ENST00000259569.5	37	c.2918_2919insA	CCDS6467.1																																																																																				0.356	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		13	27	NA	NA	NA	NA	NA	13	27	---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95738685	95738685	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:95738685delG	ENST00000375482.3	+	3	643	c.147delG	c.(145-147)ctgfs	p.L49fs	FGD3_ENST00000337352.6_Frame_Shift_Del_p.L49fs|FGD3_ENST00000416701.2_Frame_Shift_Del_p.L49fs|FGD3_ENST00000468206.1_3'UTR	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	49					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CTGTCAGCCTGGCTGCAGCAG	0.647																																							uc004asw.2		NA																	0				ovary(1)|breast(1)	2						c.(145-147)CTGfs		FYVE, RhoGEF and PH domain containing 3							19.0	23.0	22.0					9																	95738685		1900	4111	6011	SO:0001589	frameshift_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95738685delG	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.147delG	9.37:g.95738685delG	ENSP00000364631:p.Leu49fs					FGD3_uc004asx.2_Frame_Shift_Del_p.L49fs|FGD3_uc004asz.2_Frame_Shift_Del_p.L49fs	p.L49fs	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			3	775	+			49					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Frame_Shift_Del	DEL	ENST00000375482.3	37	c.147delG	CCDS43849.1																																																																																				0.647	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		7	5	NA	NA	NA	NA	NA	7	5	---	---	---	---
OR13C8	138802	broad.mit.edu	37	9	107331774	107331774	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:107331774delC	ENST00000335040.1	+	1	326	c.326delC	c.(325-327)gccfs	p.A109fs		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GCCATGGGGGCCACGGAGTGC	0.498																																							uc011lvo.1		NA																	0				ovary(1)|skin(1)	2						c.(325-327)GCCfs		olfactory receptor, family 13, subfamily C,							110.0	101.0	104.0					9																	107331774		2203	4300	6503	SO:0001589	frameshift_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331774delC		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.326delC	9.37:g.107331774delC	ENSP00000334068:p.Ala109fs						p.A109fs	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	326	+			109			Helical; Name=3; (Potential).		Q5VVG0|Q96R44	Frame_Shift_Del	DEL	ENST00000335040.1	37	c.326delC	CCDS35090.1																																																																																				0.498	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			23	50	NA	NA	NA	NA	NA	23	50	---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617354	111617354	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chr9:111617354delC	ENST00000374667.3	-	1	1885	c.857delG	c.(856-858)ggcfs	p.G286fs		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	286						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATGAGTTTGCCGTCCGGGAG	0.647																																							uc004bdi.2		NA																	0				pancreas(1)	1						c.(856-858)GGCfs		actin-like 7B							46.0	52.0	50.0					9																	111617354		2200	4295	6495	SO:0001589	frameshift_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617354delC	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.857delG	9.37:g.111617354delC	ENSP00000363799:p.Gly286fs						p.G286fs	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	922	-			286					B2R9Q2|Q5JSV1	Frame_Shift_Del	DEL	ENST00000374667.3	37	c.857delG	CCDS6771.1																																																																																				0.647	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		24	47	NA	NA	NA	NA	NA	24	47	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107976481	107976482	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:107976481_107976482insA	ENST00000372129.2	-	1	3169_3170	c.3093_3094insT	c.(3091-3096)cttgctfs	p.A1032fs	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1032					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCACTGTCAGCAAGAGCCATGG	0.485																																							uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(3091-3096)CTTGCTfs		insulin receptor substrate 4																																				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976481_107976482insA	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3094dupT	X.37:g.107976483_107976483dupA	ENSP00000361202:p.Ala1032fs						p.L1031fs	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	3126_3127	-			1031_1032						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.3093_3094insT	CCDS14544.1																																																																																				0.485	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		59	56	NA	NA	NA	NA	NA	59	56	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122616661	122616661	+	Frame_Shift_Del	DEL	C	C	-	rs373381446		TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:122616661delC	ENST00000371251.1	+	15	2503	c.2451delC	c.(2449-2451)agcfs	p.S817fs	GRIA3_ENST00000371256.5_Frame_Shift_Del_p.S817fs|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000264357.5_Frame_Shift_Del_p.S817fs			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	817					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)			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)	ACAAGACCAGCGCTCTGAGCC	0.433																																							uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2449-2451)AGCfs		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						124.0	121.0	122.0					X																	122616661		2203	4300	6503	SO:0001589	frameshift_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:122616661delC	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.2451delC	X.37:g.122616661delC	ENSP00000360297:p.Ser817fs					GRIA3_uc004etr.3_Frame_Shift_Del_p.S817fs|GRIA3_uc004ets.3_RNA	p.S817fs	NM_007325	NP_015564	P42263	GRIA3_HUMAN			16	2744	+			817			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Frame_Shift_Del	DEL	ENST00000371251.1	37	c.2451delC	CCDS14604.1																																																																																				0.433	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		107	71	NA	NA	NA	NA	NA	107	71	---	---	---	---
TMLHE	55217	broad.mit.edu	37	X	154754199	154754200	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7043-01A-11D-1945-08	TCGA-95-7043-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	86040fdc-caa7-4c13-af9c-c3f78b79930f	7a16b2f7-cb45-4f60-a779-4455e89b1f1e	g.chrX:154754199_154754200insT	ENST00000334398.3	-	3	420_421	c.275_276insA	c.(274-276)cagfs	p.Q92fs	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Frame_Shift_Ins_p.Q92fs	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	92					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGGCTGCGCTGGTGAGTCTT	0.49																																							uc004fnn.2		NA																	0				ovary(1)	1						c.(274-276)CAGfs		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154754199_154754200insT	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.276dupA	X.37:g.154754200_154754200dupT	ENSP00000335261:p.Gln92fs					TMLHE_uc004fno.2_Frame_Shift_Ins_p.Q92fs|TMLHE_uc004fnp.3_Frame_Shift_Ins_p.Q92fs	p.Q92fs	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN			3	441_442	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		92					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Frame_Shift_Ins	INS	ENST00000334398.3	37	c.275_276insA	CCDS14768.1																																																																																				0.490	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		232	101	NA	NA	NA	NA	NA	232	101	---	---	---	---
